64 results on '"Hurles, Matthew"'
Search Results
2. A minimal role for synonymous variation in human disease
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Dhindsa, Ryan S., primary, Wang, Quanli, additional, Vitsios, Dimitrios, additional, Burren, Oliver S., additional, Hu, Fengyuan, additional, DiCarlo, James E., additional, Kruglyak, Leonid, additional, MacArthur, Daniel G., additional, Hurles, Matthew E., additional, and Petrovski, Slavé, additional
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- 2022
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3. A cross-disorder dosage sensitivity map of the human genome
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Collins, Ryan L., primary, Glessner, Joseph T., additional, Porcu, Eleonora, additional, Lepamets, Maarja, additional, Brandon, Rhonda, additional, Lauricella, Christopher, additional, Han, Lide, additional, Morley, Theodore, additional, Niestroj, Lisa-Marie, additional, Ulirsch, Jacob, additional, Everett, Selin, additional, Howrigan, Daniel P., additional, Boone, Philip M., additional, Fu, Jack, additional, Karczewski, Konrad J., additional, Kellaris, Georgios, additional, Lowther, Chelsea, additional, Lucente, Diane, additional, Mohajeri, Kiana, additional, Nõukas, Margit, additional, Nuttle, Xander, additional, Samocha, Kaitlin E., additional, Trinh, Mi, additional, Ullah, Farid, additional, Võsa, Urmo, additional, Hurles, Matthew E., additional, Aradhya, Swaroop, additional, Davis, Erica E., additional, Finucane, Hilary, additional, Gusella, James F., additional, Janze, Aura, additional, Katsanis, Nicholas, additional, Matyakhina, Ludmila, additional, Neale, Benjamin M., additional, Sanders, David, additional, Warren, Stephanie, additional, Hodge, Jennelle C., additional, Lal, Dennis, additional, Ruderfer, Douglas M., additional, Meck, Jeanne, additional, Mägi, Reedik, additional, Esko, Tõnu, additional, Reymond, Alexandre, additional, Kutalik, Zoltán, additional, Hakonarson, Hakon, additional, Sunyaev, Shamil, additional, Brand, Harrison, additional, Talkowski, Michael E., additional, Metspalu, Andres, additional, Nelis, Mari, additional, and Milani, Lili, additional
- Published
- 2022
- Full Text
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4. The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources
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DiStefano, Marina T., primary, Goehringer, Scott, additional, Babb, Lawrence, additional, Alkuraya, Fowzan S., additional, Amberger, Joanna, additional, Amin, Mutaz, additional, Austin-Tse, Christina, additional, Balzotti, Marie, additional, Berg, Jonathan S., additional, Birney, Ewan, additional, Bocchini, Carol, additional, Bruford, Elspeth A., additional, Coffey, Alison J., additional, Collins, Heather, additional, Cunningham, Fiona, additional, Daugherty, Louise C., additional, Einhorn, Yaron, additional, Firth, Helen V., additional, Fitzpatrick, David R., additional, Foulger, Rebecca E., additional, Goldstein, Jennifer, additional, Hamosh, Ada, additional, Hurles, Matthew R., additional, Leigh, Sarah E., additional, Leong, Ivone U.S., additional, Maddirevula, Sateesh, additional, Martin, Christa L., additional, McDonagh, Ellen M., additional, Olry, Annie, additional, Puzriakova, Arina, additional, Radtke, Kelly, additional, Ramos, Erin M., additional, Rath, Ana, additional, Riggs, Erin Rooney, additional, Roberts, Angharad M., additional, Rodwell, Charlotte, additional, Snow, Catherine, additional, Stark, Zornitza, additional, Tahiliani, Jackie, additional, Tweedie, Susan, additional, Ware, James S., additional, Weller, Phillip, additional, Williams, Eleanor, additional, Wright, Caroline F., additional, Yates, Thabo Michael, additional, and Rehm, Heidi L., additional
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- 2022
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5. Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms
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van Walree, Eva S., primary, Dombrowsky, Gregor, additional, Jansen, Iris E., additional, Umićević Mirkov, Maša, additional, Zwart, Rob, additional, Ilgun, Aho, additional, Guo, Dongchuan, additional, Clur, Sally-Ann B., additional, Amin, Ahmed S., additional, Savage, Jeanne E., additional, van der Wal, Allard C., additional, Waisfisz, Quinten, additional, Maugeri, Alessandra, additional, Wilsdon, Anna, additional, Bu'Lock, Frances A., additional, Hurles, Matthew E., additional, Dittrich, Sven, additional, Berger, Felix, additional, Audain Martinez, Enrique, additional, Christoffels, Vincent M., additional, Hitz, Marc-Philip, additional, Milewicz, Dianna M., additional, Posthuma, Daniëlle, additional, Meijers-Heijboer, Hanne, additional, Postma, Alex V., additional, and Mathijssen, Inge B., additional
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- 2022
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6. Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders
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Gardner, Eugene J., primary, Sifrim, Alejandro, additional, Lindsay, Sarah J., additional, Prigmore, Elena, additional, Rajan, Diana, additional, Danecek, Petr, additional, Gallone, Giuseppe, additional, Eberhardt, Ruth Y., additional, Martin, Hilary C., additional, Wright, Caroline F., additional, FitzPatrick, David R., additional, Firth, Helen V., additional, and Hurles, Matthew E., additional
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- 2021
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7. Evaluating variants classified as pathogenic in ClinVar in the DDD Study
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Wright, Caroline F, Eberhardt, Ruth Y, Constantinou, Panayiotis, Hurles, Matthew E, FitzPatrick, David R, Firth, Helen V, DDD Study, Wright, Caroline F [0000-0003-2958-5076], and Apollo - University of Cambridge Repository
- Subjects
genomic medicine ,Gene Frequency ,variant interpretation ,Databases, Genetic ,Exome Sequencing ,reanalysis ,Humans ,developmental disorders ,Exome - Abstract
PURPOSE: Automated variant filtering is an essential part of diagnostic genome-wide sequencing but may generate false negative results. We sought to investigate whether some previously identified pathogenic variants may be being routinely excluded by standard variant filtering pipelines. METHODS: We evaluated variants that were previously classified as pathogenic or likely pathogenic in ClinVar in known developmental disorder genes using exome sequence data from the Deciphering Developmental Disorders (DDD) study. RESULTS: Of these ClinVar pathogenic variants, 3.6% were identified among 13,462 DDD probands, and 1134/1352 (83.9%) had already been independently communicated to clinicians using DDD variant filtering pipelines as plausibly pathogenic. The remaining 218 variants failed consequence, inheritance, or other automated variant filters. Following clinical review of these additional variants, we were able to identify 112 variants in 107 (0.8%) DDD probands as potential diagnoses. CONCLUSION: Lower minor allele frequency (1 star) are good predictors of a previously identified variant being plausibly diagnostic for developmental disorders. However, around half of previously identified pathogenic variants excluded by automated variant filtering did not appear to be disease-causing, underlining the continued need for clinical evaluation of candidate variants as part of the diagnostic process.
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- 2021
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8. Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
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Wright, Caroline F., primary, Quaife, Nicholas M., additional, Ramos-Hernández, Laura, additional, Danecek, Petr, additional, Ferla, Matteo P., additional, Samocha, Kaitlin E., additional, Kaplanis, Joanna, additional, Gardner, Eugene J., additional, Eberhardt, Ruth Y., additional, Chao, Katherine R., additional, Karczewski, Konrad J., additional, Morales, Joannella, additional, Gallone, Giuseppe, additional, Balasubramanian, Meena, additional, Banka, Siddharth, additional, Gompertz, Lianne, additional, Kerr, Bronwyn, additional, Kirby, Amelia, additional, Lynch, Sally A., additional, Morton, Jenny E.V., additional, Pinz, Hailey, additional, Sansbury, Francis H., additional, Stewart, Helen, additional, Zuccarelli, Britton D., additional, Cook, Stuart A., additional, Taylor, Jenny C., additional, Juusola, Jane, additional, Retterer, Kyle, additional, Firth, Helen V., additional, Hurles, Matthew E., additional, Lara-Pezzi, Enrique, additional, Barton, Paul J.R., additional, and Whiffin, Nicola, additional
- Published
- 2021
- Full Text
- View/download PDF
9. Launch of the gene curation coalition database
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DiStefano, Marina, primary, Goehringer, Scott, additional, Amberger, Joanna, additional, Tse, Christina Austin, additional, Balzotti, Marie, additional, Berg, Jonathan, additional, Birney, Ewan, additional, Bocchini, Carol, additional, Bruford, Elspeth, additional, Coffey, Alison, additional, Collins, Heather, additional, Cunningham, Fiona, additional, Firth, Helen, additional, Fitzpatrick, David, additional, Goldstein, Jennifer, additional, Hamosh, Ada, additional, Hurles, Matthew, additional, Leigh, Sarah, additional, Leong, Ivone, additional, Martin, Christa, additional, McDonagh, Ellen, additional, Puzriakova, Arina, additional, Olry, Annie, additional, Rath, Ana, additional, Roberts, Angharad, additional, Radtke, Kelly, additional, Ramos, Erin, additional, Riggs, Erin, additional, Rodwell, Charlotte, additional, Snow, Catherine, additional, Stark, Zornitza, additional, Tahiliani, Jackie, additional, Ware, James, additional, Williams, Eleanor, additional, Wright, Caroline, additional, Yates, Michael, additional, and Rehm, Heidi, additional
- Published
- 2021
- Full Text
- View/download PDF
10. Evaluating variants classified as pathogenic in ClinVar in the DDD Study
- Author
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Wright, Caroline F., primary, Eberhardt, Ruth Y., additional, Constantinou, Panayiotis, additional, Hurles, Matthew E., additional, FitzPatrick, David R., additional, and Firth, Helen V., additional
- Published
- 2021
- Full Text
- View/download PDF
11. Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms
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van Walree, Eva S., primary, Dombrowsky, Gregor, additional, Jansen, Iris E., additional, Mirkov, Maša Umićević, additional, Zwart, Rob, additional, Ilgun, Aho, additional, Guo, Dongchuan, additional, Clur, Sally-Ann B., additional, Amin, Ahmed S., additional, Savage, Jeanne E., additional, van der Wal, Allard C., additional, Waisfisz, Quinten, additional, Maugeri, Alessandra, additional, Wilsdon, Anna, additional, Bu’Lock, Frances A., additional, Hurles, Matthew E., additional, Dittrich, Sven, additional, Berger, Felix, additional, Audain Martinez, Enrique, additional, Christoffels, Vincent M., additional, Hitz, Marc-Philip, additional, Milewicz, Dianna M., additional, Posthuma, Daniëlle, additional, Meijers-Heijboer, Hanne, additional, Postma, Alex V., additional, and Mathijssen, Inge B., additional
- Published
- 2021
- Full Text
- View/download PDF
12. Population Structure, Stratification, and Introgression of Human Structural Variation
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Almarri, Mohamed A., primary, Bergström, Anders, additional, Prado-Martinez, Javier, additional, Yang, Fengtang, additional, Fu, Beiyuan, additional, Dunham, Alistair S., additional, Chen, Yuan, additional, Hurles, Matthew E., additional, Tyler-Smith, Chris, additional, and Xue, Yali, additional
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- 2020
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13. Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
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Aitken, Stuart, Firth, Helen V, McRae, Jeremy, Halachev, Mihail, Kini, Usha, Parker, Michael J, Lees, Melissa M, Lachlan, Katherine, Sarkar, Ajoy, Joss, Shelagh, Splitt, Miranda, McKee, Shane, Németh, Andrea H, Scott, Richard H, Wright, Caroline F, Marsh, Joseph A, Hurles, Matthew E, FitzPatrick, David R, DDD Study, Németh, Andrea H [0000-0002-2941-7657], Marsh, Joseph A [0000-0003-4132-0628], and Apollo - University of Cambridge Repository
- Subjects
Male ,Heterozygote ,phenotype ,genotype ,Developmental Disabilities ,Spectrin ,Bayes Theorem ,Dwarfism ,naive Bayes ,Repressor Proteins ,Gene Frequency ,developmental disease ,Mutation ,Exome Sequencing ,tSNE ,Humans ,Exome ,Female ,Genetic Predisposition to Disease ,Child - Abstract
Trio-based whole-exome sequence (WES) data have established confident genetic diagnoses in ∼40% of previously undiagnosed individuals recruited to the Deciphering Developmental Disorders (DDD) study. Here we aim to use the breadth of phenotypic information recorded in DDD to augment diagnosis and disease variant discovery in probands. Median Euclidean distances (mEuD) were employed as a simple measure of similarity of quantitative phenotypic data within sets of ≥10 individuals with plausibly causative de novo mutations (DNM) in 28 different developmental disorder genes. 13/28 (46.4%) showed significant similarity for growth or developmental milestone metrics, 10/28 (35.7%) showed similarity in HPO term usage, and 12/28 (43%) showed no phenotypic similarity. Pairwise comparisons of individuals with high-impact inherited variants to the 32 individuals with causative DNM in ANKRD11 using only growth z-scores highlighted 5 likely causative inherited variants and two unrecognized DNM resulting in an 18% diagnostic uplift for this gene. Using an independent approach, naive Bayes classification of growth and developmental data produced reasonably discriminative models for the 24 DNM genes with sufficiently complete data. An unsupervised naive Bayes classification of 6,993 probands with WES data and sufficient phenotypic information defined 23 in silico syndromes (ISSs) and was used to test a "phenotype first" approach to the discovery of causative genotypes using WES variants strictly filtered on allele frequency, mutation consequence, and evidence of constraint in humans. This highlighted heterozygous de novo nonsynonymous variants in SPTBN2 as causative in three DDD probands.
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- 2019
14. Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
- Author
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Aitken, Stuart, primary, Firth, Helen V., additional, McRae, Jeremy, additional, Halachev, Mihail, additional, Kini, Usha, additional, Parker, Michael J., additional, Lees, Melissa M., additional, Lachlan, Katherine, additional, Sarkar, Ajoy, additional, Joss, Shelagh, additional, Splitt, Miranda, additional, McKee, Shane, additional, Németh, Andrea H., additional, Scott, Richard H., additional, Wright, Caroline F., additional, Marsh, Joseph A., additional, Hurles, Matthew E., additional, FitzPatrick, David R., additional, Fitzgerald, T.W., additional, Gerety, S.S., additional, Jones, W.D., additional, van Kogelenberg, M., additional, King, D.A., additional, McRae, J., additional, Morley, K.I., additional, Parthiban, V., additional, Al-Turki, S., additional, Ambridge, K., additional, Barrett, D.M., additional, Bayzetinova, T., additional, Clayton, S., additional, Coomber, E.L., additional, Gribble, S., additional, Jones, P., additional, Krishnappa, N., additional, Mason, L.E., additional, Middleton, A., additional, Miller, R., additional, Prigmore, E., additional, Rajan, D., additional, Sifrim, A., additional, Tivey, A.R., additional, Ahmed, M., additional, Akawi, N., additional, Andrews, R., additional, Anjum, U., additional, Archer, H., additional, Armstrong, R., additional, Balasubramanian, M., additional, Banerjee, R., additional, Barelle, D., additional, Batstone, P., additional, Baty, D., additional, Bennett, C., additional, Berg, J., additional, Bernhard, B., additional, Bevan, A.P., additional, Blair, E., additional, Blyth, M., additional, Bohanna, D., additional, Bourdon, L., additional, Bourn, D., additional, Brady, A., additional, Bragin, E., additional, Brewer, C., additional, Brueton, L., additional, Brunstrom, K., additional, Bumpstead, S.J., additional, Bunyan, D.J., additional, Burn, J., additional, Burton, J., additional, Canham, N., additional, Castle, B., additional, Chandler, K., additional, Clasper, S., additional, Clayton-Smith, J., additional, Cole, T., additional, Collins, A., additional, Collinson, M.N., additional, Connell, F., additional, Cooper, N., additional, Cox, H., additional, Cresswell, L., additional, Cross, G., additional, Crow, Y., additional, D’Alessandro, P.M., additional, Dabir, T., additional, Davidson, R., additional, Davies, S., additional, Dean, J., additional, Deshpande, C., additional, Devlin, G., additional, Dixit, A., additional, Dominiczak, A., additional, Donnelly, C., additional, Donnelly, D., additional, Douglas, A., additional, Duncan, A., additional, Eason, J., additional, Edkins, S., additional, Ellard, S., additional, Ellis, P., additional, Elmslie, F., additional, Evans, K., additional, Everest, S., additional, Fendick, T., additional, Fisher, R., additional, Flinter, F., additional, Foulds, N., additional, Fryer, A., additional, Fu, B., additional, Gardiner, C., additional, Gaunt, L., additional, Ghali, N., additional, Gibbons, R., additional, Pereira, S.L. Gomes, additional, Goodship, J., additional, Goudie, D., additional, Gray, E., additional, Greene, P., additional, Greenhalgh, L., additional, Harrison, L., additional, Hawkins, R., additional, Hellens, S., additional, Henderson, A., additional, Hobson, E., additional, Holden, S., additional, Holder, S., additional, Hollingsworth, G., additional, Homfray, T., additional, Humphreys, M., additional, Hurst, J., additional, Ingram, S., additional, Irving, M., additional, Jarvis, J., additional, Jenkins, L., additional, Johnson, D., additional, Jones, D., additional, Jones, E., additional, Josifova, D., additional, Joss, S., additional, Kaemba, B., additional, Kazembe, S., additional, Kerr, B., additional, Kini, U., additional, Kinning, E., additional, Kirby, G., additional, Kirk, C., additional, Kivuva, E., additional, Kraus, A., additional, Kumar, D., additional, Lachlan, K., additional, Lam, W., additional, Lampe, A., additional, Langman, C., additional, Lees, M., additional, Lim, D., additional, Lowther, G., additional, Lynch, S.A., additional, Magee, A., additional, Maher, E., additional, Mansour, S., additional, Marks, K., additional, Martin, K., additional, Maye, U., additional, McCann, E., additional, McConnell, V., additional, McEntagart, M., additional, McGowan, R., additional, McKay, K., additional, McKee, S., additional, McMullan, D.J., additional, McNerlan, S., additional, Mehta, S., additional, Metcalfe, K., additional, Miles, E., additional, Mohammed, S., additional, Montgomery, T., additional, Moore, D., additional, Morgan, S., additional, Morris, A., additional, Morton, J., additional, Mugalaasi, H., additional, Murday, V., additional, Nevitt, L., additional, Newbury-Ecob, R., additional, Norman, A., additional, O’Shea, R., additional, Ogilvie, C., additional, Park, S., additional, Parker, M.J., additional, Patel, C., additional, Paterson, J., additional, Payne, S., additional, Phipps, J., additional, Pilz, D.T., additional, Porteous, D., additional, Pratt, N., additional, Prescott, K., additional, Price, S., additional, Pridham, A., additional, Proctor, A., additional, Purnell, H., additional, Ragge, N., additional, Rankin, J., additional, Raymond, L., additional, Rice, D., additional, Robert, L., additional, Roberts, E., additional, Roberts, G., additional, Roberts, J., additional, Roberts, P., additional, Ross, A., additional, Rosser, E., additional, Saggar, A., additional, Samant, S., additional, Sandford, R., additional, Sarkar, A., additional, Schweiger, S., additional, Scott, C., additional, Scott, R., additional, Selby, A., additional, Seller, A., additional, Sequeira, C., additional, Shannon, N., additional, Sharif, S., additional, Shaw-Smith, C., additional, Shearing, E., additional, Shears, D., additional, Simonic, I., additional, Simpkin, D., additional, Singzon, R., additional, Skitt, Z., additional, Smith, A., additional, Smith, B., additional, Smith, K., additional, Smithson, S., additional, Sneddon, L., additional, Splitt, M., additional, Squires, M., additional, Stewart, F., additional, Stewart, H., additional, Suri, M., additional, Sutton, V., additional, Swaminathan, G.J., additional, Sweeney, E., additional, Tatton-Brown, K., additional, Taylor, C., additional, Taylor, R., additional, Tein, M., additional, Temple, I.K., additional, Thomson, J., additional, Tolmie, J., additional, Torokwa, A., additional, Treacy, B., additional, Turner, C., additional, Turnpenny, P., additional, Tysoe, C., additional, Vandersteen, A., additional, Vasudevan, P., additional, Vogt, J., additional, Wakeling, E., additional, Walker, D., additional, Waters, J., additional, Weber, A., additional, Wellesley, D., additional, Whiteford, M., additional, Widaa, S., additional, Wilcox, S., additional, Williams, D., additional, Williams, N., additional, Woods, G., additional, Wragg, C., additional, Wright, M., additional, Yang, F., additional, Yau, M., additional, Carter, N.P., additional, Parker, M., additional, Firth, H.V., additional, FitzPatrick, D.R., additional, Wright, C.F., additional, Barrett, J.C., additional, and Hurles, M.E., additional
- Published
- 2019
- Full Text
- View/download PDF
15. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
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O’Donnell-Luria, Anne H., primary, Pais, Lynn S., additional, Faundes, Víctor, additional, Wood, Jordan C., additional, Sveden, Abigail, additional, Luria, Victor, additional, Abou Jamra, Rami, additional, Accogli, Andrea, additional, Amburgey, Kimberly, additional, Anderlid, Britt Marie, additional, Azzarello-Burri, Silvia, additional, Basinger, Alice A., additional, Bianchini, Claudia, additional, Bird, Lynne M., additional, Buchert, Rebecca, additional, Carre, Wilfrid, additional, Ceulemans, Sophia, additional, Charles, Perrine, additional, Cox, Helen, additional, Culliton, Lisa, additional, Currò, Aurora, additional, Demurger, Florence, additional, Dowling, James J., additional, Duban-Bedu, Benedicte, additional, Dubourg, Christèle, additional, Eiset, Saga Elise, additional, Escobar, Luis F., additional, Ferrarini, Alessandra, additional, Haack, Tobias B., additional, Hashim, Mona, additional, Heide, Solveig, additional, Helbig, Katherine L., additional, Helbig, Ingo, additional, Heredia, Raul, additional, Héron, Delphine, additional, Isidor, Bertrand, additional, Jonasson, Amy R., additional, Joset, Pascal, additional, Keren, Boris, additional, Kok, Fernando, additional, Kroes, Hester Y., additional, Lavillaureix, Alinoë, additional, Lu, Xin, additional, Maas, Saskia M., additional, Maegawa, Gustavo H.B., additional, Marcelis, Carlo L.M., additional, Mark, Paul R., additional, Masruha, Marcelo R., additional, McLaughlin, Heather M., additional, McWalter, Kirsty, additional, Melchinger, Esther U., additional, Mercimek-Andrews, Saadet, additional, Nava, Caroline, additional, Pendziwiat, Manuela, additional, Person, Richard, additional, Ramelli, Gian Paolo, additional, Ramos, Luiza L.P., additional, Rauch, Anita, additional, Reavey, Caitlin, additional, Renieri, Alessandra, additional, Rieß, Angelika, additional, Sanchez-Valle, Amarilis, additional, Sattar, Shifteh, additional, Saunders, Carol, additional, Schwarz, Niklas, additional, Smol, Thomas, additional, Srour, Myriam, additional, Steindl, Katharina, additional, Syrbe, Steffen, additional, Taylor, Jenny C., additional, Telegrafi, Aida, additional, Thiffault, Isabelle, additional, Trauner, Doris A., additional, van der Linden, Helio, additional, van Koningsbruggen, Silvana, additional, Villard, Laurent, additional, Vogel, Ida, additional, Vogt, Julie, additional, Weber, Yvonne G., additional, Wentzensen, Ingrid M., additional, Widjaja, Elysa, additional, Zak, Jaroslav, additional, Baxter, Samantha, additional, Banka, Siddharth, additional, Rodan, Lance H., additional, McRae, Jeremy F., additional, Clayton, Stephen, additional, Fitzgerald, Tomas W., additional, Kaplanis, Joanna, additional, Prigmore, Elena, additional, Rajan, Diana, additional, Sifrim, Alejandro, additional, Aitken, Stuart, additional, Akawi, Nadia, additional, Alvi, Mohsan, additional, Ambridge, Kirsty, additional, Barrett, Daniel M., additional, Bayzetinova, Tanya, additional, Jones, Philip, additional, Jones, Wendy D., additional, King, Daniel, additional, Krishnappa, Netravathi, additional, Mason, Laura E., additional, Singh, Tarjinder, additional, Tivey, Adrian R., additional, Ahmed, Munaza, additional, Anjum, Uruj, additional, Archer, Hayley, additional, Armstrong, Ruth, additional, Awada, Jana, additional, Balasubramanian, Meena, additional, Baralle, Diana, additional, Barnicoat, Angela, additional, Batstone, Paul, additional, Baty, David, additional, Bennett, Chris, additional, Berg, Jonathan, additional, Bernhard, Birgitta, additional, Bevan, A. Paul, additional, Bitner-Glindzicz, Maria, additional, Blair, Edward, additional, Blyth, Moira, additional, Bohanna, David, additional, Bourdon, Louise, additional, Bourn, David, additional, Bradley, Lisa, additional, Brady, Angela, additional, Brent, Simon, additional, Brewer, Carole, additional, Brunstrom, Kate, additional, Bunyan, David J., additional, Burn, John, additional, Canham, Natalie, additional, Castle, Bruce, additional, Chandler, Kate, additional, Chatzimichali, Elena, additional, Cilliers, Deirdre, additional, Clarke, Angus, additional, Clasper, Susan, additional, Clayton-Smith, Jill, additional, Clowes, Virginia, additional, Coates, Andrea, additional, Cole, Trevor, additional, Colgiu, Irina, additional, Collins, Amanda, additional, Collinson, Morag N., additional, Connell, Fiona, additional, Cooper, Nicola, additional, Cresswell, Lara, additional, Cross, Gareth, additional, Crow, Yanick, additional, D’Alessandro, Mariella, additional, Dabir, Tabib, additional, Davidson, Rosemarie, additional, Davies, Sally, additional, de Vries, Dylan, additional, Dean, John, additional, Deshpande, Charu, additional, Devlin, Gemma, additional, Dixit, Abhijit, additional, Dobbie, Angus, additional, Donaldson, Alan, additional, Donnai, Dian, additional, Donnelly, Deirdre, additional, Donnelly, Carina, additional, Douglas, Angela, additional, Douzgou, Sofia, additional, Duncan, Alexis, additional, Eason, Jacqueline, additional, Ellard, Sian, additional, Ellis, Ian, additional, Elmslie, Frances, additional, Evans, Karenza, additional, Everest, Sarah, additional, Fendick, Tina, additional, Fisher, Richard, additional, Flinter, Frances, additional, Foulds, Nicola, additional, Fry, Andrew, additional, Fryer, Alan, additional, Gardiner, Carol, additional, Gaunt, Lorraine, additional, Ghali, Neeti, additional, Gibbons, Richard, additional, Gill, Harinder, additional, Goodship, Judith, additional, Goudie, David, additional, Gray, Emma, additional, Green, Andrew, additional, Greene, Philip, additional, Greenhalgh, Lynn, additional, Gribble, Susan, additional, Harrison, Rachel, additional, Harrison, Lucy, additional, Harrison, Victoria, additional, Hawkins, Rose, additional, He, Liu, additional, Hellens, Stephen, additional, Henderson, Alex, additional, Hewitt, Sarah, additional, Hildyard, Lucy, additional, Hobson, Emma, additional, Holden, Simon, additional, Holder, Muriel, additional, Holder, Susan, additional, Hollingsworth, Georgina, additional, Homfray, Tessa, additional, Humphreys, Mervyn, additional, Hurst, Jane, additional, Hutton, Ben, additional, Ingram, Stuart, additional, Irving, Melita, additional, Islam, Lily, additional, Jackson, Andrew, additional, Jarvis, Joanna, additional, Jenkins, Lucy, additional, Johnson, Diana, additional, Jones, Elizabeth, additional, Josifova, Dragana, additional, Joss, Shelagh, additional, Kaemba, Beckie, additional, Kazembe, Sandra, additional, Kelsell, Rosemary, additional, Kerr, Bronwyn, additional, Kingston, Helen, additional, Kini, Usha, additional, Kinning, Esther, additional, Kirby, Gail, additional, Kirk, Claire, additional, Kivuva, Emma, additional, Kraus, Alison, additional, Kumar, Dhavendra, additional, Kumar, V. K. Ajith, additional, Lachlan, Katherine, additional, Lam, Wayne, additional, Lampe, Anne, additional, Langman, Caroline, additional, Lees, Melissa, additional, Lim, Derek, additional, Longman, Cheryl, additional, Lowther, Gordon, additional, Lynch, Sally A., additional, Magee, Alex, additional, Maher, Eddy, additional, Male, Alison, additional, Mansour, Sahar, additional, Marks, Karen, additional, Martin, Katherine, additional, Maye, Una, additional, McCann, Emma, additional, McConnell, Vivienne, additional, McEntagart, Meriel, additional, McGowan, Ruth, additional, McKay, Kirsten, additional, McKee, Shane, additional, McMullan, Dominic J., additional, McNerlan, Susan, additional, McWilliam, Catherine, additional, Mehta, Sarju, additional, Metcalfe, Kay, additional, Middleton, Anna, additional, Miedzybrodzka, Zosia, additional, Miles, Emma, additional, Mohammed, Shehla, additional, Montgomery, Tara, additional, Moore, David, additional, Morgan, Sian, additional, Morton, Jenny, additional, Mugalaasi, Hood, additional, Murday, Victoria, additional, Murphy, Helen, additional, Naik, Swati, additional, Nemeth, Andrea, additional, Nevitt, Louise, additional, Newbury-Ecob, Ruth, additional, Norman, Andrew, additional, O’Shea, Rosie, additional, Ogilvie, Caroline, additional, Ong, Kai-Ren, additional, Park, Soo-Mi, additional, Parker, Michael J., additional, Patel, Chirag, additional, Paterson, Joan, additional, Payne, Stewart, additional, Perrett, Daniel, additional, Phipps, Julie, additional, Pilz, Daniela T., additional, Pollard, Martin, additional, Pottinger, Caroline, additional, Poulton, Joanna, additional, Pratt, Norman, additional, Prescott, Katrina, additional, Price, Sue, additional, Pridham, Abigail, additional, Procter, Annie, additional, Purnell, Hellen, additional, Quarrell, Oliver, additional, Ragge, Nicola, additional, Rahbari, Raheleh, additional, Randall, Josh, additional, Rankin, Julia, additional, Raymond, Lucy, additional, Rice, Debbie, additional, Robert, Leema, additional, Roberts, Eileen, additional, Roberts, Jonathan, additional, Roberts, Paul, additional, Roberts, Gillian, additional, Ross, Alison, additional, Rosser, Elisabeth, additional, Saggar, Anand, additional, Samant, Shalaka, additional, Sampson, Julian, additional, Sandford, Richard, additional, Sarkar, Ajoy, additional, Schweiger, Susann, additional, Scott, Richard, additional, Scurr, Ingrid, additional, Selby, Ann, additional, Seller, Anneke, additional, Sequeira, Cheryl, additional, Shannon, Nora, additional, Sharif, Saba, additional, Shaw-Smith, Charles, additional, Shearing, Emma, additional, Shears, Debbie, additional, Sheridan, Eamonn, additional, Simonic, Ingrid, additional, Singzon, Roldan, additional, Skitt, Zara, additional, Smith, Audrey, additional, Smith, Kath, additional, Smithson, Sarah, additional, Sneddon, Linda, additional, Splitt, Miranda, additional, Squires, Miranda, additional, Stewart, Fiona, additional, Stewart, Helen, additional, Straub, Volker, additional, Suri, Mohnish, additional, Sutton, Vivienne, additional, Swaminathan, Ganesh Jawahar, additional, Sweeney, Elizabeth, additional, Tatton-Brown, Kate, additional, Taylor, Cat, additional, Taylor, Rohan, additional, Tein, Mark, additional, Temple, I. Karen, additional, Thomson, Jenny, additional, Tischkowitz, Marc, additional, Tomkins, Susan, additional, Torokwa, Audrey, additional, Treacy, Becky, additional, Turner, Claire, additional, Turnpenny, Peter, additional, Tysoe, Carolyn, additional, Vandersteen, Anthony, additional, Varghese, Vinod, additional, Vasudevan, Pradeep, additional, Vijayarangakannan, Parthiban, additional, Wakeling, Emma, additional, Wallwark, Sarah, additional, Waters, Jonathon, additional, Weber, Astrid, additional, Wellesley, Diana, additional, Whiteford, Margo, additional, Widaa, Sara, additional, Wilcox, Sarah, additional, Wilkinson, Emily, additional, Williams, Denise, additional, Williams, Nicola, additional, Wilson, Louise, additional, Woods, Geoff, additional, Wragg, Christopher, additional, Wright, Michael, additional, Yates, Laura, additional, Yau, Michael, additional, Nellåker, Chris, additional, Parker, Michael, additional, Firth, Helen V., additional, Wright, Caroline F., additional, FitzPatrick, David R., additional, Barrett, Jeffrey C., additional, and Hurles, Matthew E., additional
- Published
- 2019
- Full Text
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16. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
- Author
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Gorman, Kathleen M., primary, Meyer, Esther, additional, Grozeva, Detelina, additional, Spinelli, Egidio, additional, McTague, Amy, additional, Sanchis-Juan, Alba, additional, Carss, Keren J., additional, Bryant, Emily, additional, Reich, Adi, additional, Schneider, Amy L., additional, Pressler, Ronit M., additional, Simpson, Michael A., additional, Debelle, Geoff D., additional, Wassmer, Evangeline, additional, Morton, Jenny, additional, Sieciechowicz, Diana, additional, Jan-Kamsteeg, Eric, additional, Paciorkowski, Alex R., additional, King, Mary D., additional, Cross, J. Helen, additional, Poduri, Annapurna, additional, Mefford, Heather C., additional, Scheffer, Ingrid E., additional, Haack, Tobias B., additional, McCullagh, Gary, additional, Millichap, John J., additional, Carvill, Gemma L., additional, Clayton-Smith, Jill, additional, Maher, Eamonn R., additional, Raymond, F. Lucy, additional, Kurian, Manju A., additional, McRae, Jeremy F., additional, Clayton, Stephen, additional, Fitzgerald, Tomas W., additional, Kaplanis, Joanna, additional, Prigmore, Elena, additional, Rajan, Diana, additional, Sifrim, Alejandro, additional, Aitken, Stuart, additional, Akawi, Nadia, additional, Alvi, Mohsan, additional, Ambridge, Kirsty, additional, Barrett, Daniel M., additional, Bayzetinova, Tanya, additional, Jones, Philip, additional, Jones, Wendy D., additional, King, Daniel, additional, Krishnappa, Netravathi, additional, Mason, Laura E., additional, Singh, Tarjinder, additional, Tivey, Adrian R., additional, Ahmed, Munaza, additional, Anjum, Uruj, additional, Archer, Hayley, additional, Armstrong, Ruth, additional, Awada, Jana, additional, Balasubramanian, Meena, additional, Banka, Siddharth, additional, Baralle, Diana, additional, Barnicoat, Angela, additional, Batstone, Paul, additional, Baty, David, additional, Bennett, Chris, additional, Berg, Jonathan, additional, Bernhard, Birgitta, additional, Bevan, A. Paul, additional, Bitner-Glindzicz, Maria, additional, Blair, Edward, additional, Blyth, Moira, additional, Bohanna, David, additional, Bourdon, Louise, additional, Bourn, David, additional, Bradley, Lisa, additional, Brady, Angela, additional, Brent, Simon, additional, Brewer, Carole, additional, Brunstrom, Kate, additional, Bunyan, David J., additional, Burn, John, additional, Canham, Natalie, additional, Castle, Bruce, additional, Chandler, Kate, additional, Chatzimichali, Elena, additional, Cilliers, Deirdre, additional, Clarke, Angus, additional, Clasper, Susan, additional, Clowes, Virginia, additional, Coates, Andrea, additional, Cole, Trevor, additional, Colgiu, Irina, additional, Collins, Amanda, additional, Collinson, Morag N., additional, Connell, Fiona, additional, Cooper, Nicola, additional, Cox, Helen, additional, Cresswell, Lara, additional, Cross, Gareth, additional, Crow, Yanick, additional, D’Alessandro, Mariella, additional, Dabir, Tabib, additional, Davidson, Rosemarie, additional, Davies, Sally, additional, de Vries, Dylan, additional, Dean, John, additional, Deshpande, Charu, additional, Devlin, Gemma, additional, Dixit, Abhijit, additional, Dobbie, Angus, additional, Donaldson, Alan, additional, Donnai, Dian, additional, Donnelly, Deirdre, additional, Donnelly, Carina, additional, Douglas, Angela, additional, Douzgou, Sofia, additional, Duncan, Alexis, additional, Eason, Jacqueline, additional, Ellard, Sian, additional, Ellis, Ian, additional, Elmslie, Frances, additional, Evans, Karenza, additional, Everest, Sarah, additional, Fendick, Tina, additional, Fisher, Richard, additional, Flinter, Frances, additional, Foulds, Nicola, additional, Fry, Andrew, additional, Fryer, Alan, additional, Gardiner, Carol, additional, Gaunt, Lorraine, additional, Ghali, Neeti, additional, Gibbons, Richard, additional, Gill, Harinder, additional, Goodship, Judith, additional, Goudie, David, additional, Gray, Emma, additional, Green, Andrew, additional, Greene, Philip, additional, Greenhalgh, Lynn, additional, Gribble, Susan, additional, Harrison, Rachel, additional, Harrison, Lucy, additional, Harrison, Victoria, additional, Hawkins, Rose, additional, He, Liu, additional, Hellens, Stephen, additional, Henderson, Alex, additional, Hewitt, Sarah, additional, Hildyard, Lucy, additional, Hobson, Emma, additional, Holden, Simon, additional, Holder, Muriel, additional, Holder, Susan, additional, Hollingsworth, Georgina, additional, Homfray, Tessa, additional, Humphreys, Mervyn, additional, Hurst, Jane, additional, Hutton, Ben, additional, Ingram, Stuart, additional, Irving, Melita, additional, Islam, Lily, additional, Jackson, Andrew, additional, Jarvis, Joanna, additional, Jenkins, Lucy, additional, Johnson, Diana, additional, Jones, Elizabeth, additional, Josifova, Dragana, additional, Joss, Shelagh, additional, Kaemba, Beckie, additional, Kazembe, Sandra, additional, Kelsell, Rosemary, additional, Kerr, Bronwyn, additional, Kingston, Helen, additional, Kini, Usha, additional, Kinning, Esther, additional, Kirby, Gail, additional, Kirk, Claire, additional, Kivuva, Emma, additional, Kraus, Alison, additional, Kumar, Dhavendra, additional, Kumar, V. K. Ajith, additional, Lachlan, Katherine, additional, Lam, Wayne, additional, Lampe, Anne, additional, Langman, Caroline, additional, Lees, Melissa, additional, Lim, Derek, additional, Longman, Cheryl, additional, Lowther, Gordon, additional, Lynch, Sally A., additional, Magee, Alex, additional, Maher, Eddy, additional, Male, Alison, additional, Mansour, Sahar, additional, Marks, Karen, additional, Martin, Katherine, additional, Maye, Una, additional, McCann, Emma, additional, McConnell, Vivienne, additional, McEntagart, Meriel, additional, McGowan, Ruth, additional, McKay, Kirsten, additional, McKee, Shane, additional, McMullan, Dominic J., additional, McNerlan, Susan, additional, McWilliam, Catherine, additional, Mehta, Sarju, additional, Metcalfe, Kay, additional, Middleton, Anna, additional, Miedzybrodzka, Zosia, additional, Miles, Emma, additional, Mohammed, Shehla, additional, Montgomery, Tara, additional, Moore, David, additional, Morgan, Sian, additional, Mugalaasi, Hood, additional, Murday, Victoria, additional, Murphy, Helen, additional, Naik, Swati, additional, Nemeth, Andrea, additional, Nevitt, Louise, additional, Newbury-Ecob, Ruth, additional, Norman, Andrew, additional, O’Shea, Rosie, additional, Ogilvie, Caroline, additional, Ong, Kai-Ren, additional, Park, Soo-Mi, additional, Parker, Michael J., additional, Patel, Chirag, additional, Paterson, Joan, additional, Payne, Stewart, additional, Perrett, Daniel, additional, Phipps, Julie, additional, Pilz, Daniela T., additional, Pollard, Martin, additional, Pottinger, Caroline, additional, Poulton, Joanna, additional, Pratt, Norman, additional, Prescott, Katrina, additional, Price, Sue, additional, Pridham, Abigail, additional, Procter, Annie, additional, Purnell, Hellen, additional, Quarrell, Oliver, additional, Ragge, Nicola, additional, Rahbari, Raheleh, additional, Randall, Josh, additional, Rankin, Julia, additional, Raymond, Lucy, additional, Rice, Debbie, additional, Robert, Leema, additional, Roberts, Eileen, additional, Roberts, Jonathan, additional, Roberts, Paul, additional, Roberts, Gillian, additional, Ross, Alison, additional, Rosser, Elisabeth, additional, Saggar, Anand, additional, Samant, Shalaka, additional, Sampson, Julian, additional, Sandford, Richard, additional, Sarkar, Ajoy, additional, Schweiger, Susann, additional, Scott, Richard, additional, Scurr, Ingrid, additional, Selby, Ann, additional, Seller, Anneke, additional, Sequeira, Cheryl, additional, Shannon, Nora, additional, Sharif, Saba, additional, Shaw-Smith, Charles, additional, Shearing, Emma, additional, Shears, Debbie, additional, Sheridan, Eamonn, additional, Simonic, Ingrid, additional, Singzon, Roldan, additional, Skitt, Zara, additional, Smith, Audrey, additional, Smith, Kath, additional, Smithson, Sarah, additional, Sneddon, Linda, additional, Splitt, Miranda, additional, Squires, Miranda, additional, Stewart, Fiona, additional, Stewart, Helen, additional, Straub, Volker, additional, Suri, Mohnish, additional, Sutton, Vivienne, additional, Swaminathan, Ganesh Jawahar, additional, Sweeney, Elizabeth, additional, Tatton-Brown, Kate, additional, Taylor, Cat, additional, Taylor, Rohan, additional, Tein, Mark, additional, Temple, I. Karen, additional, Thomson, Jenny, additional, Tischkowitz, Marc, additional, Tomkins, Susan, additional, Torokwa, Audrey, additional, Treacy, Becky, additional, Turner, Claire, additional, Turnpenny, Peter, additional, Tysoe, Carolyn, additional, Vandersteen, Anthony, additional, Varghese, Vinod, additional, Vasudevan, Pradeep, additional, Vijayarangakannan, Parthiban, additional, Vogt, Julie, additional, Wakeling, Emma, additional, Wallwark, Sarah, additional, Waters, Jonathon, additional, Weber, Astrid, additional, Wellesley, Diana, additional, Whiteford, Margo, additional, Widaa, Sara, additional, Wilcox, Sarah, additional, Wilkinson, Emily, additional, Williams, Denise, additional, Williams, Nicola, additional, Wilson, Louise, additional, Woods, Geoff, additional, Wragg, Christopher, additional, Wright, Michael, additional, Yates, Laura, additional, Yau, Michael, additional, Nellåker, Chris, additional, Parker, Michael, additional, Firth, Helen V., additional, Wright, Caroline F., additional, FitzPatrick, David R., additional, Barrett, Jeffrey C., additional, Hurles, Matthew E., additional, Al Turki, Saeed, additional, Anderson, Carl, additional, Anney, Richard, additional, Antony, Dinu, additional, Artigas, Maria Soler, additional, Ayub, Muhammad, additional, Balasubramaniam, Senduran, additional, Barroso, Inês, additional, Beales, Phil, additional, Bentham, Jamie, additional, Bhattacharya, Shoumo, additional, Birney, Ewan, additional, Blackwood, Douglas, additional, Bobrow, Martin, additional, Bochukova, Elena, additional, Bolton, Patrick, additional, Bounds, Rebecca, additional, Boustred, Chris, additional, Breen, Gerome, additional, Calissano, Mattia, additional, Carss, Keren, additional, Chatterjee, Krishna, additional, Chen, Lu, additional, Ciampi, Antonio, additional, Cirak, Sebhattin, additional, Clapham, Peter, additional, Clement, Gail, additional, Coates, Guy, additional, Collier, David, additional, Cosgrove, Catherine, additional, Cox, Tony, additional, Craddock, Nick, additional, Crooks, Lucy, additional, Curran, Sarah, additional, Curtis, David, additional, Daly, Allan, additional, Day-Williams, Aaron, additional, Day, Ian N.M., additional, Down, Thomas, additional, Du, Yuanping, additional, Dunham, Ian, additional, Edkins, Sarah, additional, Ellis, Peter, additional, Evans, David, additional, Faroogi, Sadaf, additional, Fatemifar, Ghazaleh, additional, Fitzpatrick, David R., additional, Flicek, Paul, additional, Flyod, James, additional, Foley, A. Reghan, additional, Franklin, Christopher S., additional, Futema, Marta, additional, Gallagher, Louise, additional, Geihs, Matthias, additional, Geschwind, Daniel, additional, Griffin, Heather, additional, Guo, Xueqin, additional, Guo, Xiaosen, additional, Gurling, Hugh, additional, Hart, Deborah, additional, Hendricks, Audrey, additional, Holmans, Peter, additional, Howie, Bryan, additional, Huang, Liren, additional, Hubbard, Tim, additional, Humphries, Steve E., additional, Hysi, Pirro, additional, Jackson, David K., additional, Jamshidi, Yalda, additional, Jing, Tian, additional, Joyce, Chris, additional, Kaye, Jane, additional, Keane, Thomas, additional, Keogh, Julia, additional, Kemp, John, additional, Kennedy, Karen, additional, Kolb-Kokocinski, Anja, additional, Lachance, Genevieve, additional, Langford, Cordelia, additional, Lawson, Daniel, additional, Lee, Irene, additional, Lek, Monkol, additional, Liang, Jieqin, additional, Lin, Hong, additional, Li, Rui, additional, Li, Yingrui, additional, Liu, Ryan, additional, Lönnqvist, Jouko, additional, Lopes, Margarida, additional, Iotchkova, Valentina, additional, MacArthur, Daniel, additional, Marchini, Jonathan, additional, Maslen, John, additional, Massimo, Mangino, additional, Mathieson, Iain, additional, Marenne, Gaëlle, additional, McGuffin, Peter, additional, McIntosh, Andrew, additional, McKechanie, Andrew G., additional, McQuillin, Andrew, additional, Metrustry, Sarah, additional, Mitchison, Hannah, additional, Moayyeri, Alireza, additional, Morris, James, additional, Muntoni, Francesco, additional, Northstone, Kate, additional, O'Donnovan, Michael, additional, Onoufriadis, Alexandros, additional, O'Rahilly, Stephen, additional, Oualkacha, Karim, additional, Owen, Michael J., additional, Palotie, Aarno, additional, Panoutsopoulou, Kalliope, additional, Parker, Victoria, additional, Parr, Jeremy R., additional, Paternoster, Lavinia, additional, Paunio, Tiina, additional, Payne, Felicity, additional, Pietilainen, Olli, additional, Plagnol, Vincent, additional, Quaye, Lydia, additional, Quail, Michael A., additional, Rehnström, Karola, additional, Ring, Susan, additional, Ritchie, Graham R.S., additional, Roberts, Nicola, additional, Savage, David B., additional, Scambler, Peter, additional, Schiffels, Stephen, additional, Schmidts, Miriam, additional, Schoenmakers, Nadia, additional, Semple, Robert K., additional, Serra, Eva, additional, Sharp, Sally I., additional, Shin, So-Youn, additional, Skuse, David, additional, Small, Kerrin, additional, Southam, Lorraine, additional, Spasic-Boskovic, Olivera, additional, St Clair, David, additional, Stalker, Jim, additional, Stevens, Elizabeth, additional, St Pourcian, Beate, additional, Sun, Jianping, additional, Suvisaari, Jaana, additional, Tachmazidou, Ionna, additional, Tobin, Martin D., additional, Valdes, Ana, additional, Van Kogelenberg, Margriet, additional, Visscher, Peter M., additional, Wain, Louise V., additional, Walters, James T.R., additional, Wang, Guangbiao, additional, Wang, Jun, additional, Wang, Yu, additional, Ward, Kirsten, additional, Wheeler, Elanor, additional, Whyte, Tamieka, additional, Williams, Hywel, additional, Williamson, Kathleen A., additional, Wilson, Crispian, additional, Wong, Kim, additional, Xu, ChangJiang, additional, Yang, Jian, additional, Zhang, Fend, additional, Zhang, Pingbo, additional, Aitman, Timothy, additional, Alachkar, Hana, additional, Ali, Sonia, additional, Allen, Louise, additional, Allsup, David, additional, Ambegaonkar, Gautum, additional, Anderson, Julie, additional, Antrobus, Richard, additional, Arno, Gavin, additional, Arumugakani, Gururaj, additional, Ashford, Sofie, additional, Astle, William, additional, Attwood, Antony, additional, Austin, Steve, additional, Bacchelli, Chiara, additional, Bakchoul, Tamam, additional, Bariana, Tadbir K., additional, Baxendale, Helen, additional, Bennett, David, additional, Bethune, Claire, additional, Bibi, Shahnaz, additional, Bleda, Marta, additional, Boggard, Harm, additional, Bolton-Maggs, Paula, additional, Booth, Claire, additional, Bradley, John R., additional, Brady, Angie, additional, Brown, Matthew, additional, Browning, Michael, additional, Bryson, Christine, additional, Burns, Siobhan, additional, Calleja, Paul, additional, Carmichael, Jenny, additional, Caulfield, Mark, additional, Chalmers, Elizabeth, additional, Chandra, Anita, additional, Chinnery, Patrick, additional, Chitre, Manali, additional, Church, Colin, additional, Clement, Emma, additional, Clements-Brod, Naomi, additional, Coghlan, Gerry, additional, Collins, Peter, additional, Cooper, Nichola, additional, Creaser-Myers, Amanda, additional, DaCosta, Rosa, additional, Daugherty, Louise, additional, Davies, Sophie, additional, Davis, John, additional, De Vries, Minka, additional, Deegan, Patrick, additional, Deevi, Sri V.V., additional, Devlin, Lisa, additional, Dewhurst, Eleanor, additional, Doffinger, Rainer, additional, Dormand, Natalie, additional, Drewe, Elizabeth, additional, Edgar, David, additional, Egner, William, additional, Erber, Wendy N., additional, Erwood, Marie, additional, Everington, Tamara, additional, Favier, Remi, additional, Firth, Helen, additional, Fletcher, Debra, additional, Fox, James C., additional, Frary, Amy, additional, Freson, Kathleen, additional, Furie, Bruce, additional, Furnell, Abigail, additional, Gale, Daniel, additional, Gardham, Alice, additional, Gattens, Michael, additional, Ghataorhe, Pavandeep K., additional, Ghurye, Rohit, additional, Gibbs, Simon, additional, Gilmour, Kimberley, additional, Gissen, Paul, additional, Goddard, Sarah, additional, Gomez, Keith, additional, Gordins, Pavel, additional, Gräf, Stefan, additional, Greene, Daniel, additional, Greenhalgh, Alan, additional, Greinacher, Andreas, additional, Grigoriadou, Sofia, additional, Hackett, Scott, additional, Hadinnapola, Charaka, additional, Hague, Rosie, additional, Haimel, Matthias, additional, Halmagyi, Csaba, additional, Hammerton, Tracey, additional, Hart, Daniel, additional, Hayman, Grant, additional, Heemskerk, Johan W.M., additional, Henderson, Robert, additional, Hensiek, Anke, additional, Henskens, Yvonne, additional, Herwadkar, Archana, additional, Hu, Fengyuan, additional, Huissoon, Aarnoud, additional, Humbert, Marc, additional, James, Roger, additional, Jolles, Stephen, additional, Kazmi, Rashid, additional, Keeling, David, additional, Kelleher, Peter, additional, Kelly, Anne M., additional, Kennedy, Fiona, additional, Kiely, David, additional, Kingston, Nathalie, additional, Koziell, Ania, additional, Krishnakumar, Deepa, additional, Kuijpers, Taco W., additional, Kumararatne, Dinakantha, additional, Kurian, Manju, additional, Laffan, Michael A., additional, Lambert, Michele P., additional, Allen, Hana Lango, additional, Lawrie, Allan, additional, Lear, Sara, additional, Lentaigne, Claire, additional, Liesner, Ri, additional, Linger, Rachel, additional, Longhurst, Hilary, additional, Lorenzo, Lorena, additional, Machado, Rajiv, additional, Mackenzie, Rob, additional, MacLaren, Robert, additional, Maher, Eamonn, additional, Maimaris, Jesmeen, additional, Mangles, Sarah, additional, Manson, Ania, additional, Mapeta, Rutendo, additional, Markus, Hugh S., additional, Martin, Jennifer, additional, Masati, Larahmie, additional, Mathias, Mary, additional, Matser, Vera, additional, Maw, Anna, additional, McDermott, Elizabeth, additional, McJannet, Coleen, additional, Meacham, Stuart, additional, Meehan, Sharon, additional, Megy, Karyn, additional, Michaelides, Michel, additional, Millar, Carolyn M., additional, Moledina, Shahin, additional, Moore, Anthony, additional, Morrell, Nicholas, additional, Mumford, Andrew, additional, Murng, Sai, additional, Murphy, Elaine, additional, Nejentsev, Sergey, additional, Noorani, Sadia, additional, Nurden, Paquita, additional, Oksenhendler, Eric, additional, Ouwehand, Willem H., additional, Papadia, Sofia, additional, Parker, Alasdair, additional, Pasi, John, additional, Patch, Chris, additional, Payne, Jeanette, additional, Peacock, Andrew, additional, Peerlinck, Kathelijne, additional, Penkett, Christopher J., additional, Pepke-Zaba, Joanna, additional, Perry, David J., additional, Pollock, Val, additional, Polwarth, Gary, additional, Ponsford, Mark, additional, Qasim, Waseem, additional, Quinti, Isabella, additional, Rankin, Stuart, additional, Rehnstrom, Karola, additional, Reid, Evan, additional, Rhodes, Christopher J., additional, Richards, Michael, additional, Richardson, Sylvia, additional, Richter, Alex, additional, Roberts, Irene, additional, Rondina, Matthew, additional, Roughley, Catherine, additional, Rue-Albrecht, Kevin, additional, Samarghitean, Crina, additional, Santra, Saikat, additional, Sargur, Ravishankar, additional, Savic, Sinisa, additional, Schulman, Sol, additional, Schulze, Harald, additional, Scully, Marie, additional, Seneviratne, Suranjith, additional, Sewell, Carrock, additional, Shamardina, Olga, additional, Shipley, Debbie, additional, Simeoni, Ilenia, additional, Sivapalaratnam, Suthesh, additional, Smith, Kenneth, additional, Sohal, Aman, additional, Southgate, Laura, additional, Staines, Simon, additional, Staples, Emily, additional, Stauss, Hans, additional, Stein, Penelope, additional, Stephens, Jonathan, additional, Stirrups, Kathleen, additional, Stock, Sophie, additional, Suntharalingam, Jay, additional, Tait, R. Campbell, additional, Talks, Kate, additional, Tan, Yvonne, additional, Thachil, Jecko, additional, Thaventhiran, James, additional, Thomas, Ellen, additional, Thomas, Moira, additional, Thompson, Dorothy, additional, Thrasher, Adrian, additional, Titterton, Catherine, additional, Toh, Cheng-Hock, additional, Toshner, Mark, additional, Treacy, Carmen, additional, Trembath, Richard, additional, Tuna, Salih, additional, Turek, Wojciech, additional, Turro, Ernest, additional, Van Geet, Chris, additional, Veltman, Marijke, additional, von Ziegenweldt, Julie, additional, Vonk Noordegraaf, Anton, additional, Wanjiku, Ivy, additional, Warner, Timothy Q., additional, Watkins, Hugh, additional, Webster, Andrew, additional, Welch, Steve, additional, Westbury, Sarah, additional, Wharton, John, additional, Whitehorn, Deborah, additional, Wilkins, Martin, additional, Willcocks, Lisa, additional, Williamson, Catherine, additional, Woods, Geoffrey, additional, Wort, John, additional, Yeatman, Nigel, additional, Yong, Patrick, additional, Young, Tim, additional, and Yu, Ping, additional
- Published
- 2019
- Full Text
- View/download PDF
17. Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies
- Author
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Quinlan-Jones, Elizabeth, primary, Lord, Jenny, additional, Williams, Denise, additional, Hamilton, Sue, additional, Marton, Tamas, additional, Eberhardt, Ruth Y., additional, Rinck, Gabriele, additional, Prigmore, Elena, additional, Keelagher, Rebecca, additional, McMullan, Dominic J., additional, Maher, Eamonn R., additional, Hurles, Matthew E., additional, and Kilby, Mark D., additional
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- 2019
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18. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
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Lord, Jenny, primary, McMullan, Dominic J, additional, Eberhardt, Ruth Y, additional, Rinck, Gabriele, additional, Hamilton, Susan J, additional, Quinlan-Jones, Elizabeth, additional, Prigmore, Elena, additional, Keelagher, Rebecca, additional, Best, Sunayna K, additional, Carey, Georgina K, additional, Mellis, Rhiannon, additional, Robart, Sarah, additional, Berry, Ian R, additional, Chandler, Kate E, additional, Cilliers, Deirdre, additional, Cresswell, Lara, additional, Edwards, Sandra L, additional, Gardiner, Carol, additional, Henderson, Alex, additional, Holden, Simon T, additional, Homfray, Tessa, additional, Lester, Tracy, additional, Lewis, Rebecca A, additional, Newbury-Ecob, Ruth, additional, Prescott, Katrina, additional, Quarrell, Oliver W, additional, Ramsden, Simon C, additional, Roberts, Eileen, additional, Tapon, Dagmar, additional, Tooley, Madeleine J, additional, Vasudevan, Pradeep C, additional, Weber, Astrid P, additional, Wellesley, Diana G, additional, Westwood, Paul, additional, White, Helen, additional, Parker, Michael, additional, Williams, Denise, additional, Jenkins, Lucy, additional, Scott, Richard H, additional, Kilby, Mark D, additional, Chitty, Lyn S, additional, Hurles, Matthew E, additional, Maher, Eamonn R, additional, Bateman, Mark, additional, Campbell, Carolyn, additional, Campbell, Jenni, additional, Carey, Georgina, additional, Cohen, Kelly, additional, Collingwood, Emma, additional, Constantinou, Panayiotis, additional, Delmege, Catherine, additional, Ellis, Richard, additional, Evans, Jerry, additional, Everett, Thomas, additional, Pinto, Clare F, additional, Forrester, Natalie, additional, Fowler, Emma, additional, Hamilton, Susan, additional, Healey, Karen, additional, Hudson, Rebecca, additional, Lester, Tracey, additional, Lewis, Rebecca, additional, Lord, Jenny, additional, Marton, Tamas, additional, Mehta, Sarju, additional, Park, Soo-Mi, additional, Rowland, Jayne, additional, Steer, James, additional, Taylor, Emma J, additional, and Wilson, Elizabeth, additional
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- 2019
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19. Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
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Wright, Caroline F., primary, McRae, Jeremy F., additional, Clayton, Stephen, additional, Gallone, Giuseppe, additional, Aitken, Stuart, additional, FitzGerald, Tomas W., additional, Jones, Philip, additional, Prigmore, Elena, additional, Rajan, Diana, additional, Lord, Jenny, additional, Sifrim, Alejandro, additional, Kelsell, Rosemary, additional, Parker, Michael J., additional, Barrett, Jeffrey C., additional, Hurles, Matthew E., additional, FitzPatrick, David R., additional, and Firth, Helen V., additional
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- 2018
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20. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
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Faundes, Víctor, primary, Newman, William G., additional, Bernardini, Laura, additional, Canham, Natalie, additional, Clayton-Smith, Jill, additional, Dallapiccola, Bruno, additional, Davies, Sally J., additional, Demos, Michelle K., additional, Goldman, Amy, additional, Gill, Harinder, additional, Horton, Rachel, additional, Kerr, Bronwyn, additional, Kumar, Dhavendra, additional, Lehman, Anna, additional, McKee, Shane, additional, Morton, Jenny, additional, Parker, Michael J., additional, Rankin, Julia, additional, Robertson, Lisa, additional, Temple, I. Karen, additional, Banka, Siddharth, additional, Adam, Shelin, additional, du Souich, Christèle, additional, Elliott, Alison M., additional, Mwenifumbo, Jill, additional, Nelson, Tanya N., additional, van Karnebeek, Clara, additional, Friedman, Jan M., additional, McRae, Jeremy F., additional, Clayton, Stephen, additional, Fitzgerald, Tomas W., additional, Kaplanis, Joanna, additional, Prigmore, Elena, additional, Rajan, Diana, additional, Sifrim, Alejandro, additional, Aitken, Stuart, additional, Akawi, Nadia, additional, Alvi, Mohsan, additional, Ambridge, Kirsty, additional, Barrett, Daniel M., additional, Bayzetinova, Tanya, additional, Jones, Philip, additional, Jones, Wendy D., additional, King, Daniel, additional, Krishnappa, Netravathi, additional, Mason, Laura E., additional, Singh, Tarjinder, additional, Tivey, Adrian R., additional, Ahmed, Munaza, additional, Anjum, Uruj, additional, Archer, Hayley, additional, Armstrong, Ruth, additional, Awada, Jana, additional, Balasubramanian, Meena, additional, Baralle, Diana, additional, Barnicoat, Angela, additional, Batstone, Paul, additional, Baty, David, additional, Bennett, Chris, additional, Berg, Jonathan, additional, Bernhard, Birgitta, additional, Bevan, A. Paul, additional, Bitner-Glindzicz, Maria, additional, Blair, Edward, additional, Blyth, Moira, additional, Bohanna, David, additional, Bourdon, Louise, additional, Bourn, David, additional, Bradley, Lisa, additional, Brady, Angela, additional, Brent, Simon, additional, Brewer, Carole, additional, Brunstrom, Kate, additional, Bunyan, David J., additional, Burn, John, additional, Castle, Bruce, additional, Chandler, Kate, additional, Chatzimichali, Elena, additional, Cilliers, Deirdre, additional, Clarke, Angus, additional, Clasper, Susan, additional, Clowes, Virginia, additional, Coates, Andrea, additional, Cole, Trevor, additional, Colgiu, Irina, additional, Collins, Amanda, additional, Collinson, Morag N., additional, Connell, Fiona, additional, Cooper, Nicola, additional, Cox, Helen, additional, Cresswell, Lara, additional, Cross, Gareth, additional, Crow, Yanick, additional, D’Alessandro, Mariella, additional, Dabir, Tabib, additional, Davidson, Rosemarie, additional, Davies, Sally, additional, de Vries, Dylan, additional, Dean, John, additional, Deshpande, Charu, additional, Devlin, Gemma, additional, Dixit, Abhijit, additional, Dobbie, Angus, additional, Donaldson, Alan, additional, Donnai, Dian, additional, Donnelly, Deirdre, additional, Donnelly, Carina, additional, Douglas, Angela, additional, Douzgou, Sofia, additional, Duncan, Alexis, additional, Eason, Jacqueline, additional, Ellard, Sian, additional, Ellis, Ian, additional, Elmslie, Frances, additional, Evans, Karenza, additional, Everest, Sarah, additional, Fendick, Tina, additional, Fisher, Richard, additional, Flinter, Frances, additional, Foulds, Nicola, additional, Fry, Andrew, additional, Fryer, Alan, additional, Gardiner, Carol, additional, Gaunt, Lorraine, additional, Ghali, Neeti, additional, Gibbons, Richard, additional, Goodship, Judith, additional, Goudie, David, additional, Gray, Emma, additional, Green, Andrew, additional, Greene, Philip, additional, Greenhalgh, Lynn, additional, Gribble, Susan, additional, Harrison, Rachel, additional, Harrison, Lucy, additional, Harrison, Victoria, additional, Hawkins, Rose, additional, He, Liu, additional, Hellens, Stephen, additional, Henderson, Alex, additional, Hewitt, Sarah, additional, Hildyard, Lucy, additional, Hobson, Emma, additional, Holden, Simon, additional, Holder, Muriel, additional, Holder, Susan, additional, Hollingsworth, Georgina, additional, Homfray, Tessa, additional, Humphreys, Mervyn, additional, Hurst, Jane, additional, Hutton, Ben, additional, Ingram, Stuart, additional, Irving, Melita, additional, Islam, Lily, additional, Jackson, Andrew, additional, Jarvis, Joanna, additional, Jenkins, Lucy, additional, Johnson, Diana, additional, Jones, Elizabeth, additional, Josifova, Dragana, additional, Joss, Shelagh, additional, Kaemba, Beckie, additional, Kazembe, Sandra, additional, Kelsell, Rosemary, additional, Kingston, Helen, additional, Kini, Usha, additional, Kinning, Esther, additional, Kirby, Gail, additional, Kirk, Claire, additional, Kivuva, Emma, additional, Kraus, Alison, additional, Kumar, V.K. Ajith, additional, Lachlan, Katherine, additional, Lam, Wayne, additional, Lampe, Anne, additional, Langman, Caroline, additional, Lees, Melissa, additional, Lim, Derek, additional, Longman, Cheryl, additional, Lowther, Gordon, additional, Lynch, Sally A., additional, Magee, Alex, additional, Maher, Eddy, additional, Male, Alison, additional, Mansour, Sahar, additional, Marks, Karen, additional, Martin, Katherine, additional, Maye, Una, additional, McCann, Emma, additional, McConnell, Vivienne, additional, McEntagart, Meriel, additional, McGowan, Ruth, additional, McKay, Kirsten, additional, McMullan, Dominic J., additional, McNerlan, Susan, additional, McWilliam, Catherine, additional, Mehta, Sarju, additional, Metcalfe, Kay, additional, Middleton, Anna, additional, Miedzybrodzka, Zosia, additional, Miles, Emma, additional, Mohammed, Shehla, additional, Montgomery, Tara, additional, Moore, David, additional, Morgan, Sian, additional, Mugalaasi, Hood, additional, Murday, Victoria, additional, Murphy, Helen, additional, Naik, Swati, additional, Nemeth, Andrea, additional, Nevitt, Louise, additional, Newbury-Ecob, Ruth, additional, Norman, Andrew, additional, O’Shea, Rosie, additional, Ogilvie, Caroline, additional, Ong, Kai-Ren, additional, Park, Soo-Mi, additional, Patel, Chirag, additional, Paterson, Joan, additional, Payne, Stewart, additional, Perrett, Daniel, additional, Phipps, Julie, additional, Pilz, Daniela T., additional, Pollard, Martin, additional, Pottinger, Caroline, additional, Poulton, Joanna, additional, Pratt, Norman, additional, Prescott, Katrina, additional, Price, Sue, additional, Pridham, Abigail, additional, Procter, Annie, additional, Purnell, Hellen, additional, Quarrell, Oliver, additional, Ragge, Nicola, additional, Rahbari, Raheleh, additional, Randall, Josh, additional, Raymond, Lucy, additional, Rice, Debbie, additional, Robert, Leema, additional, Roberts, Eileen, additional, Roberts, Jonathan, additional, Roberts, Paul, additional, Roberts, Gillian, additional, Ross, Alison, additional, Rosser, Elisabeth, additional, Saggar, Anand, additional, Samant, Shalaka, additional, Sampson, Julian, additional, Sandford, Richard, additional, Sarkar, Ajoy, additional, Schweiger, Susann, additional, Scott, Richard, additional, Scurr, Ingrid, additional, Selby, Ann, additional, Seller, Anneke, additional, Sequeira, Cheryl, additional, Shannon, Nora, additional, Sharif, Saba, additional, Shaw-Smith, Charles, additional, Shearing, Emma, additional, Shears, Debbie, additional, Sheridan, Eamonn, additional, Simonic, Ingrid, additional, Singzon, Roldan, additional, Skitt, Zara, additional, Smith, Audrey, additional, Smith, Kath, additional, Smithson, Sarah, additional, Sneddon, Linda, additional, Splitt, Miranda, additional, Squires, Miranda, additional, Stewart, Fiona, additional, Stewart, Helen, additional, Straub, Volker, additional, Suri, Mohnish, additional, Sutton, Vivienne, additional, Swaminathan, Ganesh Jawahar, additional, Sweeney, Elizabeth, additional, Tatton-Brown, Kate, additional, Taylor, Cat, additional, Taylor, Rohan, additional, Tein, Mark, additional, Thomson, Jenny, additional, Tischkowitz, Marc, additional, Tomkins, Susan, additional, Torokwa, Audrey, additional, Treacy, Becky, additional, Turner, Claire, additional, Turnpenny, Peter, additional, Tysoe, Carolyn, additional, Vandersteen, Anthony, additional, Varghese, Vinod, additional, Vasudevan, Pradeep, additional, Vijayarangakannan, Parthiban, additional, Vogt, Julie, additional, Wakeling, Emma, additional, Wallwark, Sarah, additional, Waters, Jonathon, additional, Weber, Astrid, additional, Wellesley, Diana, additional, Whiteford, Margo, additional, Widaa, Sara, additional, Wilcox, Sarah, additional, Wilkinson, Emily, additional, Williams, Denise, additional, Williams, Nicola, additional, Wilson, Louise, additional, Woods, Geoff, additional, Wragg, Christopher, additional, Wright, Michael, additional, Yates, Laura, additional, Yau, Michael, additional, Nellåker, Chris, additional, Parker, Michael, additional, Firth, Helen V., additional, Wright, Caroline F., additional, FitzPatrick, David R., additional, Barrett, Jeffrey C., additional, and . Hurles, Matthew E., additional
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- 2018
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21. Clinical and molecular consequences of disease-associated de novo mutations in SATB2
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Bengani, Hemant, primary, Handley, Mark, additional, Alvi, Mohsan, additional, Ibitoye, Rita, additional, Lees, Melissa, additional, Lynch, Sally Ann, additional, Lam, Wayne, additional, Fannemel, Madeleine, additional, Nordgren, Ann, additional, Malmgren, H., additional, Kvarnung, M., additional, Mehta, Sarju, additional, McKee, Shane, additional, Whiteford, Margo, additional, Stewart, Fiona, additional, Connell, Fiona, additional, Clayton-Smith, Jill, additional, Mansour, Sahar, additional, Mohammed, Shehla, additional, Fryer, Alan, additional, Morton, Jenny, additional, Grozeva, Detelina, additional, Asam, Tara, additional, Moore, David, additional, Sifrim, Alejandro, additional, McRae, Jeremy, additional, Hurles, Matthew E., additional, Firth, Helen V., additional, Raymond, F. Lucy, additional, Kini, Usha, additional, Nellåker, Christoffer, additional, and FitzPatrick, David R., additional
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- 2017
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22. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
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Boycott, Kym M., primary, Rath, Ana, additional, Chong, Jessica X., additional, Hartley, Taila, additional, Alkuraya, Fowzan S., additional, Baynam, Gareth, additional, Brookes, Anthony J., additional, Brudno, Michael, additional, Carracedo, Angel, additional, den Dunnen, Johan T., additional, Dyke, Stephanie O.M., additional, Estivill, Xavier, additional, Goldblatt, Jack, additional, Gonthier, Catherine, additional, Groft, Stephen C., additional, Gut, Ivo, additional, Hamosh, Ada, additional, Hieter, Philip, additional, Höhn, Sophie, additional, Hurles, Matthew E., additional, Kaufmann, Petra, additional, Knoppers, Bartha M., additional, Krischer, Jeffrey P., additional, Macek, Milan, additional, Matthijs, Gert, additional, Olry, Annie, additional, Parker, Samantha, additional, Paschall, Justin, additional, Philippakis, Anthony A., additional, Rehm, Heidi L., additional, Robinson, Peter N., additional, Sham, Pak-Chung, additional, Stefanov, Rumen, additional, Taruscio, Domenica, additional, Unni, Divya, additional, Vanstone, Megan R., additional, Zhang, Feng, additional, Brunner, Han, additional, Bamshad, Michael J., additional, and Lochmüller, Hanns, additional
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- 2017
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23. An Organismal CNV Mutator Phenotype Restricted to Early Human Development
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Liu, Pengfei, primary, Yuan, Bo, additional, Carvalho, Claudia M.B., additional, Wuster, Arthur, additional, Walter, Klaudia, additional, Zhang, Ling, additional, Gambin, Tomasz, additional, Chong, Zechen, additional, Campbell, Ian M., additional, Coban Akdemir, Zeynep, additional, Gelowani, Violet, additional, Writzl, Karin, additional, Bacino, Carlos A., additional, Lindsay, Sarah J., additional, Withers, Marjorie, additional, Gonzaga-Jauregui, Claudia, additional, Wiszniewska, Joanna, additional, Scull, Jennifer, additional, Stankiewicz, Paweł, additional, Jhangiani, Shalini N., additional, Muzny, Donna M., additional, Zhang, Feng, additional, Chen, Ken, additional, Gibbs, Richard A., additional, Rautenstrauss, Bernd, additional, Cheung, Sau Wai, additional, Smith, Janice, additional, Breman, Amy, additional, Shaw, Chad A., additional, Patel, Ankita, additional, Hurles, Matthew E., additional, and Lupski, James R., additional
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- 2017
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24. THE PREVALENCE AND ARCHITECTURE OF SEVERE, DOMINANT DEVELOPMENTAL DISORDERS
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Hurles, Matthew, primary
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- 2017
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25. Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy
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Muona, Mikko, primary, Ishimura, Ryosuke, additional, Laari, Anni, additional, Ichimura, Yoshinobu, additional, Linnankivi, Tarja, additional, Keski-Filppula, Riikka, additional, Herva, Riitta, additional, Rantala, Heikki, additional, Paetau, Anders, additional, Pöyhönen, Minna, additional, Obata, Miki, additional, Uemura, Takefumi, additional, Karhu, Thomas, additional, Bizen, Norihisa, additional, Takebayashi, Hirohide, additional, McKee, Shane, additional, Parker, Michael J., additional, Akawi, Nadia, additional, McRae, Jeremy, additional, Hurles, Matthew E., additional, Kuismin, Outi, additional, Kurki, Mitja I., additional, Anttonen, Anna-Kaisa, additional, Tanaka, Keiji, additional, Palotie, Aarno, additional, Waguri, Satoshi, additional, Lehesjoki, Anna-Elina, additional, and Komatsu, Masaaki, additional
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- 2016
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26. A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies
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Bodea, Corneliu A., primary, Neale, Benjamin M., additional, Ripke, Stephan, additional, Daly, Mark J., additional, Devlin, Bernie, additional, Roeder, Kathryn, additional, Barclay, Murray, additional, Peyrin-Biroulet, Laurent, additional, Chamaillard, Mathias, additional, Colombel, Jean-Frederick, additional, Cottone, Mario, additional, Croft, Anthony, additional, D’Incà, Renata, additional, Halfvarson, Jonas, additional, Hanigan, Katherine, additional, Henderson, Paul, additional, Hugot, Jean-Pierre, additional, Karban, Amir, additional, Kennedy, Nicholas A., additional, Khan, Mohammed Azam, additional, Lémann, Marc, additional, Levine, Arie, additional, Massey, Dunecan, additional, Milla, Monica, additional, Montgomery, Grant W., additional, Ng, Sok Meng Evelyn, additional, Oikonomou, Ioannis, additional, Peeters, Harald, additional, Proctor, Deborah D., additional, Rahier, Jean-Francois, additional, Roberts, Rebecca, additional, Rutgeerts, Paul, additional, Seibold, Frank, additional, Stronati, Laura, additional, Taylor, Kirstin M., additional, Törkvist, Leif, additional, Ublick, Kullak, additional, Van Limbergen, Johan, additional, Van Gossum, Andre, additional, Vatn, Morten H., additional, Zhang, Hu, additional, Zhang, Wei, additional, Andrews, Jane M., additional, Bampton, Peter A., additional, Florin, Timothy H., additional, Gearry, Richard, additional, Krishnaprasad, Krupa, additional, Lawrance, Ian C., additional, Mahy, Gillian, additional, Radford-Smith, Graham, additional, Roberts, Rebecca L., additional, Simms, Lisa A., additional, Amininijad, Leila, additional, Cleynen, Isabelle, additional, Dewit, Olivier, additional, Franchimont, Denis, additional, Georges, Michel, additional, Laukens, Debby, additional, Theatre, Emilie, additional, Van Gossum, André, additional, Vermeire, Severine, additional, Aumais, Guy, additional, Baidoo, Leonard, additional, Barrie, Arthur M., additional, Beck, Karen, additional, Bernard, Edmond-Jean, additional, Binion, David G., additional, Bitton, Alain, additional, Brant, Steve R., additional, Cho, Judy H., additional, Cohen, Albert, additional, Croitoru, Kenneth, additional, Datta, Lisa W., additional, Deslandres, Colette, additional, Duerr, Richard H., additional, Dutridge, Debra, additional, Ferguson, John, additional, Fultz, Joann, additional, Goyette, Philippe, additional, Greenberg, Gordon R., additional, Haritunians, Talin, additional, Jobin, Gilles, additional, Katz, Seymour, additional, Lahaie, Raymond G., additional, McGovern, Dermot P., additional, Nelson, Linda, additional, Ng, Sok Meng, additional, Ning, Kaida, additional, Paré, Pierre, additional, Regueiro, Miguel D., additional, Rioux, John D., additional, Ruggiero, Elizabeth, additional, Schumm, L. Philip, additional, Schwartz, Marc, additional, Scott, Regan, additional, Sharma, Yashoda, additional, Silverberg, Mark S., additional, Spears, Denise, additional, Steinhart, A. Hillary, additional, Stempak, Joanne M., additional, Swoger, Jason M., additional, Tsagarelis, Constantina, additional, Zhang, Clarence, additional, Zhao, Hongyu, additional, Aerts, Jan, additional, Ahmad, Tariq, additional, Arbury, Hazel, additional, Attwood, Anthony, additional, Auton, Adam, additional, Ball, Stephen G., additional, Balmforth, Anthony J., additional, Barnes, Chris, additional, Barrett, Jeffrey C., additional, Barroso, Inês, additional, Barton, Anne, additional, Bennett, Amanda J., additional, Bhaskar, Sanjeev, additional, Blaszczyk, Katarzyna, additional, Bowes, John, additional, Brand, Oliver J., additional, Braund, Peter S., additional, Bredin, Francesca, additional, Breen, Gerome, additional, Brown, Morris J., additional, Bruce, Ian N., additional, Bull, Jaswinder, additional, Burren, Oliver S., additional, Burton, John, additional, Byrnes, Jake, additional, Caesar, Sian, additional, Cardin, Niall, additional, Clee, Chris M., additional, Coffey, Alison J., additional, Connell, John M.C., additional, Conrad, Donald F., additional, Cooper, Jason D., additional, Dominiczak, Anna F., additional, Downes, Kate, additional, Drummond, Hazel E., additional, Dudakia, Darshna, additional, Dunham, Andrew, additional, Ebbs, Bernadette, additional, Eccles, Diana, additional, Edkins, Sarah, additional, Edwards, Cathryn, additional, Elliot, Anna, additional, Emery, Paul, additional, Evans, David M., additional, Evans, Gareth, additional, Eyre, Steve, additional, Farmer, Anne, additional, Ferrier, Nicol, additional, Flynn, Edward, additional, Forbes, Alistair, additional, Forty, Liz, additional, Franklyn, Jayne A., additional, Frayling, Timothy M., additional, Freathy, Rachel M., additional, Giannoulatou, Eleni, additional, Gibbs, Polly, additional, Gilbert, Paul, additional, Gordon-Smith, Katherine, additional, Gray, Emma, additional, Green, Elaine, additional, Groves, Chris J., additional, Grozeva, Detelina, additional, Gwilliam, Rhian, additional, Hall, Anita, additional, Hammond, Naomi, additional, Hardy, Matt, additional, Harrison, Pile, additional, Hassanali, Neelam, additional, Hebaishi, Husam, additional, Hines, Sarah, additional, Hinks, Anne, additional, Hitman, Graham A., additional, Hocking, Lynne, additional, Holmes, Chris, additional, Howard, Eleanor, additional, Howard, Philip, additional, Howson, Joanna M.M., additional, Hughes, Debbie, additional, Hunt, Sarah, additional, Isaacs, John D., additional, Jain, Mahim, additional, Jewell, Derek P., additional, Johnson, Toby, additional, Jolley, Jennifer D., additional, Jones, Ian R., additional, Jones, Lisa A., additional, Kirov, George, additional, Langford, Cordelia F., additional, Lango-Allen, Hana, additional, Lathrop, G. Mark, additional, Lee, James, additional, Lee, Kate L., additional, Lees, Charlie, additional, Lewis, Kevin, additional, Lindgren, Cecilia M., additional, Maisuria-Armer, Meeta, additional, Maller, Julian, additional, Mansfield, John, additional, Marchini, Jonathan L., additional, Martin, Paul, additional, Massey, Dunecan C.O., additional, McArdle, Wendy L., additional, McGuffin, Peter, additional, McLay, Kirsten E., additional, McVean, Gil, additional, Mentzer, Alex, additional, Mimmack, Michael L., additional, Morgan, Ann E., additional, Morris, Andrew P., additional, Mowat, Craig, additional, Munroe, Patricia B., additional, Myers, Simon, additional, Newman, William, additional, Nimmo, Elaine R., additional, O’Donovan, Michael C., additional, Onipinla, Abiodun, additional, Ovington, Nigel R., additional, Owen, Michael J., additional, Palin, Kimmo, additional, Palotie, Aarno, additional, Parnell, Kirstie, additional, Pearson, Richard, additional, Pernet, David, additional, Perry, John R.B., additional, Phillips, Anne, additional, Plagnol, Vincent, additional, Prescott, Natalie J., additional, Prokopenko, Inga, additional, Quail, Michael A., additional, Rafelt, Suzanne, additional, Rayner, Nigel W., additional, Reid, David M., additional, Renwick, Anthony, additional, Ring, Susan M., additional, Robertson, Neil, additional, Robson, Samuel, additional, Russell, Ellie, additional, St Clair, David, additional, Sambrook, Jennifer G., additional, Sanderson, Jeremy D., additional, Sawcer, Stephen J., additional, Schuilenburg, Helen, additional, Scott, Carol E., additional, Scott, Richard, additional, Seal, Sheila, additional, Shaw-Hawkins, Sue, additional, Shields, Beverley M., additional, Simmonds, Matthew J., additional, Smyth, Debbie J., additional, Somaskantharajah, Elilan, additional, Spanova, Katarina, additional, Steer, Sophia, additional, Stephens, Jonathan, additional, Stevens, Helen E., additional, Stirrups, Kathy, additional, Stone, Millicent A., additional, Strachan, David P., additional, Su, Zhan, additional, Symmons, Deborah P.M., additional, Thompson, John R., additional, Thomson, Wendy, additional, Tobin, Martin D., additional, Travers, Mary E., additional, Turnbull, Clare, additional, Vukcevic, Damjan, additional, Wain, Louise V., additional, Walker, Mark, additional, Walker, Neil M., additional, Wallace, Chris, additional, Warren-Perry, Margaret, additional, Watkins, Nicholas A., additional, Webster, John, additional, Weedon, Michael N., additional, Wilson, Anthony G., additional, Woodburn, Matthew, additional, Wordsworth, B. Paul, additional, Yau, Chris, additional, Young, Allan H., additional, Zeggini, Eleftheria, additional, Brown, Matthew A., additional, Burton, Paul R., additional, Caulfield, Mark J., additional, Compston, Alastair, additional, Farrall, Martin, additional, Gough, Stephen C.L., additional, Hall, Alistair S., additional, Hattersley, Andrew T., additional, Hill, Adrian V.S., additional, Mathew, Christopher G., additional, Pembrey, Marcus, additional, Satsangi, Jack, additional, Stratton, Michael R., additional, Worthington, Jane, additional, Hurles, Matthew E., additional, Duncanson, Audrey, additional, Ouwehand, Willem H., additional, Parkes, Miles, additional, Rahman, Nazneen, additional, Todd, John A., additional, Samani, Nilesh J., additional, Kwiatkowski, Dominic P., additional, McCarthy, Mark I., additional, Craddock, Nick, additional, Deloukas, Panos, additional, Donnelly, Peter, additional, Blackwell, Jenefer M., additional, Bramon, Elvira, additional, Casas, Juan P., additional, Corvin, Aiden, additional, Jankowski, Janusz, additional, Markus, Hugh S., additional, Palmer, Colin N.A., additional, Plomin, Robert, additional, Rautanen, Anna, additional, Trembath, Richard C., additional, Viswanathan, Ananth C., additional, Wood, Nicholas W., additional, Spencer, Chris C.A., additional, Band, Gavin, additional, Bellenguez, Céline, additional, Freeman, Colin, additional, Hellenthal, Garrett, additional, Pirinen, Matti, additional, Strange, Amy, additional, Blackburn, Hannah, additional, Bumpstead, Suzannah J., additional, Dronov, Serge, additional, Gillman, Matthew, additional, Jayakumar, Alagurevathi, additional, McCann, Owen T., additional, Liddle, Jennifer, additional, Potter, Simon C., additional, Ravindrarajah, Radhi, additional, Ricketts, Michelle, additional, Waller, Matthew, additional, Weston, Paul, additional, Widaa, Sara, additional, and Whittaker, Pamela, additional
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- 2016
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27. Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans
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Al Turki, Saeed, primary, Manickaraj, Ashok K., additional, Mercer, Catherine L., additional, Gerety, Sebastian S., additional, Hitz, Marc-Phillip, additional, Lindsay, Sarah, additional, D’Alessandro, Lisa C.A., additional, Swaminathan, G. Jawahar, additional, Bentham, Jamie, additional, Arndt, Anne-Karin, additional, Louw, Jacoba, additional, Breckpot, Jeroen, additional, Gewillig, Marc, additional, Thienpont, Bernard, additional, Abdul-Khaliq, Hashim, additional, Harnack, Christine, additional, Hoff, Kirstin, additional, Kramer, Hans-Heiner, additional, Schubert, Stephan, additional, Siebert, Reiner, additional, Toka, Okan, additional, Cosgrove, Catherine, additional, Watkins, Hugh, additional, Lucassen, Anneke M., additional, O’Kelly, Ita M., additional, Salmon, Anthony P., additional, Bu’Lock, Frances A., additional, Granados-Riveron, Javier, additional, Setchfield, Kerry, additional, Thornborough, Chris, additional, Brook, J. David, additional, Mulder, Barbara, additional, Klaassen, Sabine, additional, Bhattacharya, Shoumo, additional, Devriendt, Koen, additional, FitzPatrick, David R., additional, Wilson, David I., additional, Mital, Seema, additional, and Hurles, Matthew E., additional
- Published
- 2016
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28. Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations
- Author
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Rainger, Joe, primary, Pehlivan, Davut, additional, Johansson, Stefan, additional, Bengani, Hemant, additional, Sanchez-Pulido, Luis, additional, Williamson, Kathleen A., additional, Ture, Mehmet, additional, Barker, Heather, additional, Rosendahl, Karen, additional, Spranger, Jürgen, additional, Horn, Denise, additional, Meynert, Alison, additional, Floyd, James A.B., additional, Prescott, Trine, additional, Anderson, Carl A., additional, Rainger, Jacqueline K., additional, Karaca, Ender, additional, Gonzaga-Jauregui, Claudia, additional, Jhangiani, Shalini, additional, Muzny, Donna M., additional, Seawright, Anne, additional, Soares, Dinesh C., additional, Kharbanda, Mira, additional, Murday, Victoria, additional, Finch, Andrew, additional, Gibbs, Richard A., additional, van Heyningen, Veronica, additional, Taylor, Martin S., additional, Yakut, Tahsin, additional, Knappskog, Per M., additional, Hurles, Matthew E., additional, Ponting, Chris P., additional, Lupski, James R., additional, Houge, Gunnar, additional, FitzPatrick, David R., additional, Hurles, Matthew, additional, FitzPatrick, David R., additional, Al-Turki, Saeed, additional, Anderson, Carl, additional, Barroso, Inês, additional, Beales, Philip, additional, Bentham, Jamie, additional, Bhattacharya, Shoumo, additional, Carss, Keren, additional, Chatterjee, Krishna, additional, Cirak, Sebhattin, additional, Cosgrove, Catherine, additional, Daly, Allan, additional, Floyd, Jamie, additional, Franklin, Chris, additional, Futema, Marta, additional, Humphries, Steve, additional, McCarthy, Shane, additional, Mitchison, Hannah, additional, Muntoni, Francesco, additional, Onoufriadis, Alexandros, additional, Parker, Victoria, additional, Payne, Felicity, additional, Plagnol, Vincent, additional, Raymond, Lucy, additional, Savage, David, additional, Scambler, Peter, additional, Schmidts, Miriam, additional, Semple, Robert, additional, Serra, Eva, additional, Stalker, Jim, additional, van Kogelenberg, Margriet, additional, Vijayarangakannan, Parthiban, additional, Walter, Klaudia, additional, and Wood, Gretta, additional
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- 2014
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29. Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect
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D’Alessandro, Lisa C.A., primary, Al Turki, Saeed, additional, Manickaraj, Ashok Kumar, additional, Manase, Dorin, additional, Mulder, Barbara J.M., additional, Bergin, Lynn, additional, Rosenberg, Herschel C., additional, Mondal, Tapas, additional, Gordon, Elaine, additional, Lougheed, Jane, additional, Smythe, John, additional, Devriendt, Koen, additional, Bhattacharya, Shoumo, additional, Watkins, Hugh, additional, Bentham, Jamie, additional, Bowdin, Sarah, additional, Hurles, Matthew E., additional, and Mital, Seema, additional
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- 2016
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30. No expectation to share incidental findings in genomic research
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Middleton, Anna, primary, Morley, Katherine I, additional, Bragin, Eugene, additional, Firth, Helen V, additional, Hurles, Matthew E, additional, Wright, Caroline F, additional, and Parker, Michael, additional
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- 2015
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31. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
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Wright, Caroline F, primary, Fitzgerald, Tomas W, additional, Jones, Wendy D, additional, Clayton, Stephen, additional, McRae, Jeremy F, additional, van Kogelenberg, Margriet, additional, King, Daniel A, additional, Ambridge, Kirsty, additional, Barrett, Daniel M, additional, Bayzetinova, Tanya, additional, Bevan, A Paul, additional, Bragin, Eugene, additional, Chatzimichali, Eleni A, additional, Gribble, Susan, additional, Jones, Philip, additional, Krishnappa, Netravathi, additional, Mason, Laura E, additional, Miller, Ray, additional, Morley, Katherine I, additional, Parthiban, Vijaya, additional, Prigmore, Elena, additional, Rajan, Diana, additional, Sifrim, Alejandro, additional, Swaminathan, G Jawahar, additional, Tivey, Adrian R, additional, Middleton, Anna, additional, Parker, Michael, additional, Carter, Nigel P, additional, Barrett, Jeffrey C, additional, Hurles, Matthew E, additional, FitzPatrick, David R, additional, and Firth, Helen V, additional
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- 2015
- Full Text
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32. Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements
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Carvalho, Claudia M.B., primary, Pfundt, Rolph, additional, King, Daniel A., additional, Lindsay, Sarah J., additional, Zuccherato, Luciana W., additional, Macville, Merryn V.E., additional, Liu, Pengfei, additional, Johnson, Diana, additional, Stankiewicz, Pawel, additional, Brown, Chester W., additional, Shaw, Chad A., additional, Hurles, Matthew E., additional, Ira, Grzegorz, additional, Hastings, P.J., additional, Brunner, Han G., additional, and Lupski, James R., additional
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- 2015
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33. Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans
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Al Turki, Saeed, primary, Manickaraj, Ashok K., additional, Mercer, Catherine L., additional, Gerety, Sebastian S., additional, Hitz, Marc-Phillip, additional, Lindsay, Sarah, additional, D’Alessandro, Lisa C.A., additional, Swaminathan, G. Jawahar, additional, Bentham, Jamie, additional, Arndt, Anne-Karin, additional, Low, Jacoba, additional, Breckpot, Jeroen, additional, Gewillig, Marc, additional, Thienpont, Bernard, additional, Abdul-Khaliq, Hashim, additional, Harnack, Christine, additional, Hoff, Kirstin, additional, Kramer, Hans-Heiner, additional, Schubert, Stephan, additional, Siebert, Reiner, additional, Toka, Okan, additional, Cosgrove, Catherine, additional, Watkins, Hugh, additional, Lucassen, Anneke M., additional, O’Kelly, Ita M., additional, Salmon, Anthony P., additional, Bu’Lock, Frances A., additional, Granados-Riveron, Javier, additional, Setchfield, Kerry, additional, Thornborough, Chris, additional, Brook, J. David, additional, Mulder, Barbara, additional, Klaassen, Sabine, additional, Bhattacharya, Shoumo, additional, Devriendt, Koen, additional, FitzPatrick, David R., additional, Wilson, David I., additional, Mital, Seema, additional, and Hurles, Matthew E., additional
- Published
- 2014
- Full Text
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34. De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability
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Grozeva, Detelina, primary, Carss, Keren, additional, Spasic-Boskovic, Olivera, additional, Parker, Michael J., additional, Archer, Hayley, additional, Firth, Helen V., additional, Park, Soo-Mi, additional, Canham, Natalie, additional, Holder, Susan E., additional, Wilson, Meredith, additional, Hackett, Anna, additional, Field, Michael, additional, Floyd, James A.B., additional, Hurles, Matthew, additional, and Raymond, F. Lucy, additional
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- 2014
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35. Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia
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Mulle, Jennifer Gladys, primary, Pulver, Ann E., additional, McGrath, John A., additional, Wolyniec, Paula S., additional, Dodd, Anne F., additional, Cutler, David J., additional, Sebat, Jonathan, additional, Malhotra, Dheeraj, additional, Nestadt, Gerald, additional, Conrad, Donald F., additional, Hurles, Matthew, additional, Barnes, Chris P., additional, Ikeda, Masashi, additional, Iwata, Nakao, additional, Levinson, Douglas F., additional, Gejman, Pablo V., additional, Sanders, Alan R., additional, Duan, Jubao, additional, Mitchell, Adele A., additional, Peter, Inga, additional, Sklar, Pamela, additional, O’Dushlaine, Colm T., additional, Grozeva, Detelina, additional, O’Donovan, Michael C., additional, Owen, Michael J., additional, Hultman, Christina M., additional, Kähler, Anna K., additional, Sullivan, Patrick F., additional, Kirov, George, additional, and Warren, Stephen T., additional
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- 2014
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36. Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects
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Williamson, Kathleen A., primary, Rainger, Joe, additional, Floyd, James A.B., additional, Ansari, Morad, additional, Meynert, Alison, additional, Aldridge, Kishan V., additional, Rainger, Jacqueline K., additional, Anderson, Carl A., additional, Moore, Anthony T., additional, Hurles, Matthew E., additional, Clarke, Angus, additional, van Heyningen, Veronica, additional, Verloes, Alain, additional, Taylor, Martin S., additional, Wilkie, Andrew O.M., additional, and FitzPatrick, David R., additional
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- 2014
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37. Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
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Schmidts, Miriam, primary, Vodopiutz, Julia, additional, Christou-Savina, Sonia, additional, Cortés, Claudio R., additional, McInerney-Leo, Aideen M., additional, Emes, Richard D., additional, Arts, Heleen H., additional, Tüysüz, Beyhan, additional, D’Silva, Jason, additional, Leo, Paul J., additional, Giles, Tom C., additional, Oud, Machteld M., additional, Harris, Jessica A., additional, Koopmans, Marije, additional, Marshall, Mhairi, additional, Elçioglu, Nursel, additional, Kuechler, Alma, additional, Bockenhauer, Detlef, additional, Moore, Anthony T., additional, Wilson, Louise C., additional, Janecke, Andreas R., additional, Hurles, Matthew E., additional, Emmet, Warren, additional, Gardiner, Brooke, additional, Streubel, Berthold, additional, Dopita, Belinda, additional, Zankl, Andreas, additional, Kayserili, Hülya, additional, Scambler, Peter J., additional, Brown, Matthew A., additional, Beales, Philip L., additional, Wicking, Carol, additional, Duncan, Emma L., additional, and Mitchison, Hannah M., additional
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- 2013
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38. TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities
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Wiszniewski, Wojciech, primary, Hunter, Jill V., additional, Hanchard, Neil A., additional, Willer, Jason R., additional, Shaw, Chad, additional, Tian, Qi, additional, Illner, Anna, additional, Wang, Xueqing, additional, Cheung, Sau W., additional, Patel, Ankita, additional, Campbell, Ian M., additional, Gelowani, Violet, additional, Hixson, Patricia, additional, Ester, Audrey R., additional, Azamian, Mahshid S., additional, Potocki, Lorraine, additional, Zapata, Gladys, additional, Hernandez, Patricia P., additional, Ramocki, Melissa B., additional, Santos-Cortez, Regie L.P., additional, Wang, Gao, additional, York, Michele K., additional, Justice, Monica J., additional, Chu, Zili D., additional, Bader, Patricia I., additional, Omo-Griffith, Lisa, additional, Madduri, Nirupama S., additional, Scharer, Gunter, additional, Crawford, Heather P., additional, Yanatatsaneejit, Pattamawadee, additional, Eifert, Anna, additional, Kerr, Jeffery, additional, Bacino, Carlos A., additional, Franklin, Adiaha I.A., additional, Goin-Kochel, Robin, additional, Simpson, Gayle, additional, Immken, Ladonna, additional, Haque, Muhammad E., additional, Stosic, Marija, additional, Williams, Misti D., additional, Morgan, Thomas M., additional, Pruthi, Sumit, additional, Omary, Reed, additional, Boyadjiev, Simeon A., additional, Win, Kay K., additional, Thida, Aye, additional, Hurles, Matthew, additional, Hibberd, Martin Lloyd, additional, Khor, Chiea Chuen, additional, Van Vinh Chau, Nguyen, additional, Gallagher, Thomas E., additional, Mutirangura, Apiwat, additional, Stankiewicz, Pawel, additional, Beaudet, Arthur L., additional, Maletic-Savatic, Mirjana, additional, Rosenfeld, Jill A., additional, Shaffer, Lisa G., additional, Davis, Erica E., additional, Belmont, John W., additional, Dunstan, Sarah, additional, Simmons, Cameron P., additional, Bonnen, Penelope E., additional, Leal, Suzanne M., additional, Katsanis, Nicholas, additional, Lupski, James R., additional, and Lalani, Seema R., additional
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- 2013
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39. Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
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Carss, Keren J., primary, Stevens, Elizabeth, additional, Foley, A. Reghan, additional, Cirak, Sebahattin, additional, Riemersma, Moniek, additional, Torelli, Silvia, additional, Hoischen, Alexander, additional, Willer, Tobias, additional, van Scherpenzeel, Monique, additional, Moore, Steven A., additional, Messina, Sonia, additional, Bertini, Enrico, additional, Bönnemann, Carsten G., additional, Abdenur, Jose E., additional, Grosmann, Carla M., additional, Kesari, Akanchha, additional, Punetha, Jaya, additional, Quinlivan, Ros, additional, Waddell, Leigh B., additional, Young, Helen K., additional, Wraige, Elizabeth, additional, Yau, Shu, additional, Brodd, Lina, additional, Feng, Lucy, additional, Sewry, Caroline, additional, MacArthur, Daniel G., additional, North, Kathryn N., additional, Hoffman, Eric, additional, Stemple, Derek L., additional, Hurles, Matthew E., additional, van Bokhoven, Hans, additional, Campbell, Kevin P., additional, Lefeber, Dirk J., additional, Lin, Yung-Yao, additional, and Muntoni, Francesco, additional
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- 2013
- Full Text
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40. NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease
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Pitceathly, Robert D.S., primary, Rahman, Shamima, additional, Wedatilake, Yehani, additional, Polke, James M., additional, Cirak, Sebahattin, additional, Foley, A. Reghan, additional, Sailer, Anna, additional, Hurles, Matthew E., additional, Stalker, Jim, additional, Hargreaves, Iain, additional, Woodward, Cathy E., additional, Sweeney, Mary G., additional, Muntoni, Francesco, additional, Houlden, Henry, additional, Taanman, Jan-Willem, additional, and Hanna, Michael G., additional
- Published
- 2013
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41. Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
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Oates, Emily C., primary, Rossor, Alexander M., additional, Hafezparast, Majid, additional, Gonzalez, Michael, additional, Speziani, Fiorella, additional, MacArthur, Daniel G., additional, Lek, Monkol, additional, Cottenie, Ellen, additional, Scoto, Mariacristina, additional, Foley, A. Reghan, additional, Hurles, Matthew, additional, Houlden, Henry, additional, Greensmith, Linda, additional, Auer-Grumbach, Michaela, additional, Pieber, Thomas R., additional, Strom, Tim M., additional, Schule, Rebecca, additional, Herrmann, David N., additional, Sowden, Janet E., additional, Acsadi, Gyula, additional, Menezes, Manoj P., additional, Clarke, Nigel F., additional, Züchner, Stephan, additional, Muntoni, Francesco, additional, North, Kathryn N., additional, and Reilly, Mary M., additional
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- 2013
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42. Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan
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Stevens, Elizabeth, primary, Carss, Keren J., additional, Cirak, Sebahattin, additional, Foley, A. Reghan, additional, Torelli, Silvia, additional, Willer, Tobias, additional, Tambunan, Dimira E., additional, Yau, Shu, additional, Brodd, Lina, additional, Sewry, Caroline A., additional, Feng, Lucy, additional, Haliloglu, Goknur, additional, Orhan, Diclehan, additional, Dobyns, William B., additional, Enns, Gregory M., additional, Manning, Melanie, additional, Krause, Amanda, additional, Salih, Mustafa A., additional, Walsh, Christopher A., additional, Hurles, Matthew, additional, Campbell, Kevin P., additional, Manzini, M. Chiara, additional, Stemple, Derek, additional, Lin, Yung-Yao, additional, and Muntoni, Francesco, additional
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- 2013
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43. Genetic Basis of Y-Linked Hearing Impairment
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Wang, Qiuju, primary, Xue, Yali, additional, Zhang, Yujun, additional, Long, Quan, additional, Yang, Fengtang, additional, Turner, Daniel J., additional, Fitzgerald, Tomas, additional, Ng, Bee Ling, additional, Zhao, Yali, additional, Chen, Yuan, additional, Liu, Qingjie, additional, Yang, Weiyan, additional, Han, Dongyi, additional, Quail, Michael A., additional, Swerdlow, Harold, additional, Burton, John, additional, Fahey, Ciara, additional, Ning, Zemin, additional, Hurles, Matthew E., additional, Carter, Nigel P., additional, Yang, Huanming, additional, and Tyler-Smith, Chris, additional
- Published
- 2013
- Full Text
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44. Genomic Pathology of SLE-Associated Copy-Number Variation at the FCGR2C/FCGR3B/FCGR2B Locus
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Mueller, Michael, primary, Barros, Paula, additional, Witherden, Abigail S., additional, Roberts, Amy L., additional, Zhang, Zhou, additional, Schaschl, Helmut, additional, Yu, Chack-Yung, additional, Hurles, Matthew E., additional, Schaffner, Catherine, additional, Floto, R. Andres, additional, Game, Laurence, additional, Steinberg, Karyn Meltz, additional, Wilson, Richard K., additional, Graves, Tina A., additional, Eichler, Evan E., additional, Cook, H. Terence, additional, Vyse, Timothy J., additional, and Aitman, Timothy J., additional
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- 2013
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45. Harnessing genomics to identify environmental determinants of heritable disease
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Yauk, Carole Lyn, primary, Lucas Argueso, J., additional, Auerbach, Scott S., additional, Awadalla, Philip, additional, Davis, Sean R., additional, DeMarini, David M., additional, Douglas, George R., additional, Dubrova, Yuri E., additional, Elespuru, Rosalie K., additional, Glover, Thomas W., additional, Hales, Barbara F., additional, Hurles, Matthew E., additional, Klein, Catherine B., additional, Lupski, James R., additional, Manchester, David K., additional, Marchetti, Francesco, additional, Montpetit, Alexandre, additional, Mulvihill, John J., additional, Robaire, Bernard, additional, Robbins, Wendie A., additional, Rouleau, Guy A., additional, Shaughnessy, Daniel T., additional, Somers, Christopher M., additional, Taylor, James G., additional, Trasler, Jacquetta, additional, Waters, Michael D., additional, Wilson, Thomas E., additional, Witt, Kristine L., additional, and Bishop, Jack B., additional
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- 2013
- Full Text
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46. Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry
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Olbrich, Heike, primary, Schmidts, Miriam, additional, Werner, Claudius, additional, Onoufriadis, Alexandros, additional, Loges, Niki T., additional, Raidt, Johanna, additional, Banki, Nora Fanni, additional, Shoemark, Amelia, additional, Burgoyne, Tom, additional, Al Turki, Saeed, additional, Hurles, Matthew E., additional, Köhler, Gabriele, additional, Schroeder, Josef, additional, Nürnberg, Gudrun, additional, Nürnberg, Peter, additional, Chung, Eddie M.K., additional, Reinhardt, Richard, additional, Marthin, June K., additional, Nielsen, Kim G., additional, Mitchison, Hannah M., additional, and Omran, Heymut, additional
- Published
- 2012
- Full Text
- View/download PDF
47. Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders
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Luo, Rui, primary, Sanders, Stephan J., additional, Tian, Yuan, additional, Voineagu, Irina, additional, Huang, Ni, additional, Chu, Su H., additional, Klei, Lambertus, additional, Cai, Chaochao, additional, Ou, Jing, additional, Lowe, Jennifer K., additional, Hurles, Matthew E., additional, Devlin, Bernie, additional, State, Matthew W., additional, and Geschwind, Daniel H., additional
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- 2012
- Full Text
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48. Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia
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Grozeva, Detelina, primary, Conrad, Donald F., additional, Barnes, Chris P., additional, Hurles, Matthew, additional, Owen, Michael J., additional, O'Donovan, Michael C., additional, Craddock, Nick, additional, and Kirov, George, additional
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- 2012
- Full Text
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49. Adaptive Evolution of UGT2B17 Copy-Number Variation
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Xue, Yali, primary, Sun, Donglin, additional, Daly, Allan, additional, Yang, Fengtang, additional, Zhou, Xue, additional, Zhao, Mengyao, additional, Huang, Ni, additional, Zerjal, Tatiana, additional, Lee, Charles, additional, Carter, Nigel P., additional, Hurles, Matthew E., additional, and Tyler-Smith, Chris, additional
- Published
- 2008
- Full Text
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50. The functional impact of structural variation in humans
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Hurles, Matthew E., primary, Dermitzakis, Emmanouil T., additional, and Tyler-Smith, Chris, additional
- Published
- 2008
- Full Text
- View/download PDF
Catalog
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