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59 results on '"FitzPatrick, David R."'

1. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Author: Ansari, Morad, primary, Faour, Kamli N.W., additional, Shimamura, Akiko, additional, Grimes, Graeme, additional, Kao, Emeline M., additional, Denhoff, Erica R., additional, Blatnik, Ana, additional, Ben-Isvy, Daniel, additional, Wang, Lily, additional, Helm, Benjamin M., additional, Firth, Helen, additional, Breman, Amy M., additional, Bijlsma, Emilia K., additional, Iwata-Otsubo, Aiko, additional, de Ravel, Thomy J.L., additional, Fusaro, Vincent, additional, Fryer, Alan, additional, Nykamp, Keith, additional, Stühn, Lara G., additional, Haack, Tobias B., additional, Korenke, G. Christoph, additional, Constantinou, Panayiotis, additional, Bujakowska, Kinga M., additional, Low, Karen J., additional, Place, Emily, additional, Humberson, Jennifer, additional, Napier, Melanie P., additional, Hoffman, Jessica, additional, Juusola, Jane, additional, Deardorff, Matthew A., additional, Shao, Wanqing, additional, Rockowitz, Shira, additional, Krantz, Ian, additional, Kaur, Maninder, additional, Raible, Sarah, additional, Dortenzio, Victoria, additional, Kliesch, Sabine, additional, Singer-Berk, Moriel, additional, Groopman, Emily, additional, DiTroia, Stephanie, additional, Ballal, Sonia, additional, Srivastava, Siddharth, additional, Rothfelder, Kathrin, additional, Biskup, Saskia, additional, Rzasa, Jessica, additional, Kerkhof, Jennifer, additional, McConkey, Haley, additional, Sadikovic, Bekim, additional, Hilton, Sarah, additional, Banka, Siddharth, additional, Tüttelmann, Frank, additional, Conrad, Donald, additional, O’Donnell-Luria, Anne, additional, Talkowski, Michael E., additional, FitzPatrick, David R., additional, and Boone, Philip M., additional
Published: 2024
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2. IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders

Author: Aitken, Stuart, primary, Firth, Helen V., additional, Wright, Caroline F., additional, Hurles, Matthew E., additional, FitzPatrick, David R., additional, and Semple, Colin A., additional
Published: 2023
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3. Importance of adopting standardized MANE transcripts in clinical reporting

Author: Wright, Caroline F., primary, FitzPatrick, David R., additional, Ware, James S., additional, Rehm, Heidi L., additional, and Firth, Helen V., additional
Published: 2022
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4. The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

Author: 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
Published: 2022
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5. Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders

Author: 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
Published: 2021
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6. Evaluating variants classified as pathogenic in ClinVar in the DDD Study

Author: 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.
Published: 2021
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7. Evaluating variants classified as pathogenic in ClinVar in the DDD Study

Author: 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
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8. Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

Author: 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.
Published: 2019

9. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

Author: Connaughton, Dervla M., primary, Dai, Rufeng, additional, Owen, Danielle J., additional, Marquez, Jonathan, additional, Mann, Nina, additional, Graham-Paquin, Adda L., additional, Nakayama, Makiko, additional, Coyaud, Etienne, additional, Laurent, Estelle M.N., additional, St-Germain, Jonathan R., additional, Blok, Lot Snijders, additional, Vino, Arianna, additional, Klämbt, Verena, additional, Deutsch, Konstantin, additional, Wu, Chen-Han Wilfred, additional, Kolvenbach, Caroline M., additional, Kause, Franziska, additional, Ottlewski, Isabel, additional, Schneider, Ronen, additional, Kitzler, Thomas M., additional, Majmundar, Amar J., additional, Buerger, Florian, additional, Onuchic-Whitford, Ana C., additional, Youying, Mao, additional, Kolb, Amy, additional, Salmanullah, Daanya, additional, Chen, Evan, additional, van der Ven, Amelie T., additional, Rao, Jia, additional, Ityel, Hadas, additional, Seltzsam, Steve, additional, Rieke, Johanna M., additional, Chen, Jing, additional, Vivante, Asaf, additional, Hwang, Daw-Yang, additional, Kohl, Stefan, additional, Dworschak, Gabriel C., additional, Hermle, Tobias, additional, Alders, Mariëlle, additional, Bartolomaeus, Tobias, additional, Bauer, Stuart B., additional, Baum, Michelle A., additional, Brilstra, Eva H., additional, Challman, Thomas D., additional, Zyskind, Jacob, additional, Costin, Carrie E., additional, Dipple, Katrina M., additional, Duijkers, Floor A., additional, Ferguson, Marcia, additional, Fitzpatrick, David R., additional, Fick, Roger, additional, Glass, Ian A., additional, Hulick, Peter J., additional, Kline, Antonie D., additional, Krey, Ilona, additional, Kumar, Selvin, additional, Lu, Weining, additional, Marco, Elysa J., additional, Wentzensen, Ingrid M., additional, Mefford, Heather C., additional, Platzer, Konrad, additional, Povolotskaya, Inna S., additional, Savatt, Juliann M., additional, Shcherbakova, Natalia V., additional, Senguttuvan, Prabha, additional, Squire, Audrey E., additional, Stein, Deborah R., additional, Thiffault, Isabelle, additional, Voinova, Victoria Y., additional, Somers, Michael J.G., additional, Ferguson, Michael A., additional, Traum, Avram Z., additional, Daouk, Ghaleb H., additional, Daga, Ankana, additional, Rodig, Nancy M., additional, Terhal, Paulien A., additional, van Binsbergen, Ellen, additional, Eid, Loai A., additional, Tasic, Velibor, additional, Rasouly, Hila Milo, additional, Lim, Tze Y., additional, Ahram, Dina F., additional, Gharavi, Ali G., additional, Reutter, Heiko M., additional, Rehm, Heidi L., additional, MacArthur, Daniel G., additional, Lek, Monkol, additional, Laricchia, Kristen M., additional, Lifton, Richard P., additional, Xu, Hong, additional, Mane, Shrikant M., additional, Sanna-Cherchi, Simone, additional, Sharrocks, Andrew D., additional, Raught, Brian, additional, Fisher, Simon E., additional, Bouchard, Maxime, additional, Khokha, Mustafa K., additional, Shril, Shirlee, additional, and Hildebrandt, Friedhelm, additional
Published: 2020
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10. GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder

Author: Shieh, Christine, primary, Jones, Natasha, additional, Vanle, Brigitte, additional, Au, Margaret, additional, Huang, Alden Y., additional, Silva, Ana P.G., additional, Lee, Hane, additional, Douine, Emilie D., additional, Otero, Maria G., additional, Choi, Andrew, additional, Grand, Katheryn, additional, Taff, Ingrid P., additional, Delgado, Mauricio R., additional, Hajianpour, M.J., additional, Seeley, Andrea, additional, Rohena, Luis, additional, Vernon, Hilary, additional, Gripp, Karen W., additional, Vergano, Samantha A., additional, Mahida, Sonal, additional, Naidu, Sakkubai, additional, Sousa, Ana Berta, additional, Wain, Karen E., additional, Challman, Thomas D., additional, Beek, Geoffrey, additional, Basel, Donald, additional, Ranells, Judith, additional, Smith, Rosemarie, additional, Yusupov, Roman, additional, Freckmann, Mary-Louise, additional, Ohden, Lisa, additional, Davis-Keppen, Laura, additional, Chitayat, David, additional, Dowling, James J., additional, Finkel, Richard, additional, Dauber, Andrew, additional, Spillmann, Rebecca, additional, Pena, Loren D.M., additional, Metcalfe, Kay, additional, Splitt, Miranda, additional, Lachlan, Katherine, additional, McKee, Shane A., additional, Hurst, Jane, additional, Fitzpatrick, David R., additional, Morton, Jenny E.V., additional, Cox, Helen, additional, Venkateswaran, Sunita, additional, Young, Juan I., additional, Marsh, Eric D., additional, Nelson, Stanley F., additional, Martinez, Julian A., additional, Graham, John M., additional, Kini, Usha, additional, Mackay, Joel P., additional, and Pierson, Tyler Mark, additional
Published: 2020
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11. Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Author: Shieh, Christine, primary, Jones, Natasha, additional, Vanle, Brigitte, additional, Au, Margaret, additional, Huang, Alden Y., additional, Silva, Ana P.G., additional, Lee, Hane, additional, Douine, Emilie D., additional, Otero, Maria G., additional, Choi, Andrew, additional, Grand, Katheryn, additional, Taff, Ingrid P., additional, Delgado, Mauricio R., additional, Hajianpour, M.J., additional, Seeley, Andrea, additional, Rohena, Luis, additional, Vernon, Hilary, additional, Gripp, Karen W., additional, Vergano, Samantha A., additional, Mahida, Sonal, additional, Naidu, Sakkubai, additional, Sousa, Ana Berta, additional, Wain, Karen E., additional, Challman, Thomas D., additional, Beek, Geoffrey, additional, Basel, Donald, additional, Ranells, Judith, additional, Smith, Rosemarie, additional, Yusupov, Roman, additional, Freckmann, Mary-Louise, additional, Ohden, Lisa, additional, Davis-Keppen, Laura, additional, Chitayat, David, additional, Dowling, James J., additional, Finkel, Richard, additional, Dauber, Andrew, additional, Spillmann, Rebecca, additional, Pena, Loren D.M., additional, Metcalfe, Kay, additional, Splitt, Miranda, additional, Lachlan, Katherine, additional, McKee, Shane A., additional, Hurst, Jane, additional, Fitzpatrick, David R., additional, Morton, Jenny E.V., additional, Cox, Helen, additional, Venkateswaran, Sunita, additional, Young, Juan I., additional, Marsh, Eric D., additional, Nelson, Stanley F., additional, Martinez, Julian A., additional, Graham, John M., additional, Kini, Usha, additional, Mackay, Joel P., additional, and Pierson, Tyler Mark, additional
Published: 2020
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12. Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

Author: Williamson, Kathleen A., primary, Hall, H. Nikki, additional, Owen, Liusaidh J., additional, Livesey, Benjamin J., additional, Hanson, Isabel M., additional, Adams, G., additional, Bodek, Simon, additional, Calvas, Patrick, additional, Castle, Bruce, additional, Clarke, Michael, additional, Deng, Alexander T., additional, Edery, Patrick, additional, Fisher, Richard, additional, Gillessen-Kaesbach, Gabriele, additional, Heon, Elise, additional, Hurst, Jane, additional, Josifova, Dragana, additional, Lorenz, Birgit, additional, McKee, Shane, additional, Meire, Francoise, additional, Moore, Anthony T., additional, Parker, Michael, additional, Reiff, Charlotte M., additional, Self, Jay, additional, Tobias, Edward S., additional, Verheij, Joke B., additional, Willems, Marjolaine, additional, Williams, Denise, additional, van Heyningen, Veronica, additional, Marsh, Joseph A., additional, and FitzPatrick, David R., additional
Published: 2020
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13. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Author: 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
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14. Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

Author: 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
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15. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Author: 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
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16. Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

Author: 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
Published: 2018
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17. Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study

Author: Männikkö, Roope, primary, Wong, Leonie, additional, Tester, David J, additional, Thor, Michael G, additional, Sud, Richa, additional, Kullmann, Dimitri M, additional, Sweeney, Mary G, additional, Leu, Costin, additional, Sisodiya, Sanjay M, additional, FitzPatrick, David R, additional, Evans, Margaret J, additional, Jeffrey, Iona J M, additional, Tfelt-Hansen, Jacob, additional, Cohen, Marta C, additional, Fleming, Peter J, additional, Jaye, Amie, additional, Simpson, Michael A, additional, Ackerman, Michael J, additional, Hanna, Michael G, additional, Behr, Elijah R, additional, and Matthews, Emma, additional
Published: 2018
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18. Cardiac Genetic Predisposition in Sudden Infant Death Syndrome

Author: Tester, David J., primary, Wong, Leonie C.H., additional, Chanana, Pritha, additional, Jaye, Amie, additional, Evans, Jared M., additional, FitzPatrick, David R., additional, Evans, Margaret J., additional, Fleming, Peter, additional, Jeffrey, Iona, additional, Cohen, Marta C., additional, Tfelt-Hansen, Jacob, additional, Simpson, Michael A., additional, Behr, Elijah R., additional, and Ackerman, Michael J., additional
Published: 2018
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19. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Author: 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
Published: 2018
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20. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Author: Hamdan, Fadi F., primary, Myers, Candace T., additional, Cossette, Patrick, additional, Lemay, Philippe, additional, Spiegelman, Dan, additional, Laporte, Alexandre Dionne, additional, Nassif, Christina, additional, Diallo, Ousmane, additional, Monlong, Jean, additional, Cadieux-Dion, Maxime, additional, Dobrzeniecka, Sylvia, additional, Meloche, Caroline, additional, Retterer, Kyle, additional, Cho, Megan T., additional, Rosenfeld, Jill A., additional, Bi, Weimin, additional, Massicotte, Christine, additional, Miguet, Marguerite, additional, Brunga, Ledia, additional, Regan, Brigid M., additional, Mo, Kelly, additional, Tam, Cory, additional, Schneider, Amy, additional, Hollingsworth, Georgie, additional, FitzPatrick, David R., additional, Donaldson, Alan, additional, Canham, Natalie, additional, Blair, Edward, additional, Kerr, Bronwyn, additional, Fry, Andrew E., additional, Thomas, Rhys H., additional, Shelagh, Joss, additional, Hurst, Jane A., additional, Brittain, Helen, additional, Blyth, Moira, additional, Lebel, Robert Roger, additional, Gerkes, Erica H., additional, Davis-Keppen, Laura, additional, Stein, Quinn, additional, Chung, Wendy K., additional, Dorison, Sara J., additional, Benke, Paul J., additional, Fassi, Emily, additional, Corsten-Janssen, Nicole, additional, Kamsteeg, Erik-Jan, additional, Mau-Them, Frederic T., additional, Bruel, Ange-Line, additional, Verloes, Alain, additional, Õunap, Katrin, additional, Wojcik, Monica H., additional, Albert, Dara V.F., additional, Venkateswaran, Sunita, additional, Ware, Tyson, additional, Jones, Dean, additional, Liu, Yu-Chi, additional, Mohammad, Shekeeb S., additional, Bizargity, Peyman, additional, Bacino, Carlos A., additional, Leuzzi, Vincenzo, additional, Martinelli, Simone, additional, Dallapiccola, Bruno, additional, Tartaglia, Marco, additional, Blumkin, Lubov, additional, Wierenga, Klaas J., additional, Purcarin, Gabriela, additional, O’Byrne, James J., additional, Stockler, Sylvia, additional, Lehman, Anna, additional, Keren, Boris, additional, Nougues, Marie-Christine, additional, Mignot, Cyril, additional, Auvin, Stéphane, additional, Nava, Caroline, additional, Hiatt, Susan M., additional, Bebin, Martina, additional, Shao, Yunru, additional, Scaglia, Fernando, additional, Lalani, Seema R., additional, Frye, Richard E., additional, Jarjour, Imad T., additional, Jacques, Stéphanie, additional, Boucher, Renee-Myriam, additional, Riou, Emilie, additional, Srour, Myriam, additional, Carmant, Lionel, additional, Lortie, Anne, additional, Major, Philippe, additional, Diadori, Paola, additional, Dubeau, François, additional, D’Anjou, Guy, additional, Bourque, Guillaume, additional, Berkovic, Samuel F., additional, Sadleir, Lynette G., additional, Campeau, Philippe M., additional, Kibar, Zoha, additional, Lafrenière, Ronald G., additional, Girard, Simon L., additional, Mercimek-Mahmutoglu, Saadet, additional, Boelman, Cyrus, additional, Rouleau, Guy A., additional, Scheffer, Ingrid E., additional, Mefford, Heather C., additional, Andrade, Danielle M., additional, Rossignol, Elsa, additional, Minassian, Berge A., additional, and Michaud, Jacques L., additional
Published: 2017
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21. Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Author: 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
Published: 2017
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22. De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

Author: Jansen, Sandra, primary, Geuer, Sinje, additional, Pfundt, Rolph, additional, Brough, Rachel, additional, Ghongane, Priyanka, additional, Herkert, Johanna C., additional, Marco, Elysa J., additional, Willemsen, Marjolein H., additional, Kleefstra, Tjitske, additional, Hannibal, Mark, additional, Shieh, Joseph T., additional, Lynch, Sally Ann, additional, Flinter, Frances, additional, FitzPatrick, David R., additional, Gardham, Alice, additional, Bernhard, Birgitta, additional, Ragge, Nicola, additional, Newbury-Ecob, Ruth, additional, Bernier, Raphael, additional, Kvarnung, Malin, additional, Magnusson, E.A. Helena, additional, Wessels, Marja W., additional, van Slegtenhorst, Marjon A., additional, Monaghan, Kristin G., additional, de Vries, Petra, additional, Veltman, Joris A., additional, Lord, Christopher J., additional, Vissers, Lisenka E.L.M., additional, and de Vries, Bert B.A., additional
Published: 2017
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23. Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

Author: Kharbanda, Mira, primary, Pilz, Daniela T., additional, Tomkins, Susan, additional, Chandler, Kate, additional, Saggar, Anand, additional, Fryer, Alan, additional, McKay, Victoria, additional, Louro, Pedro, additional, Smith, Jill Clayton, additional, Burn, John, additional, Kini, Usha, additional, De Burca, Anna, additional, FitzPatrick, David R., additional, and Kinning, Esther, additional
Published: 2017
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24. A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Author: McEntagart, Meriel, primary, Williamson, Kathleen A., additional, Rainger, Jacqueline K., additional, Wheeler, Ann, additional, Seawright, Anne, additional, De Baere, Elfride, additional, Verdin, Hannah, additional, Bergendahl, L. Therese, additional, Quigley, Alan, additional, Rainger, Joe, additional, Dixit, Abhijit, additional, Sarkar, Ajoy, additional, López Laso, Eduardo, additional, Sanchez-Carpintero, Rocio, additional, Barrio, Jesus, additional, Bitoun, Pierre, additional, Prescott, Trine, additional, Riise, Ruth, additional, McKee, Shane, additional, Cook, Jackie, additional, McKie, Lisa, additional, Ceulemans, Berten, additional, Meire, Françoise, additional, Temple, I. Karen, additional, Prieur, Fabienne, additional, Williams, Jonathan, additional, Clouston, Penny, additional, Németh, Andrea H., additional, Banka, Siddharth, additional, Bengani, Hemant, additional, Handley, Mark, additional, Freyer, Elisabeth, additional, Ross, Allyson, additional, van Heyningen, Veronica, additional, Marsh, Joseph A., additional, Elmslie, Frances, additional, and FitzPatrick, David R., additional
Published: 2016
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25. Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

Author: 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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26. Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

Author: 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
Published: 2014
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27. A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation

Author: Horn, Denise, primary, Prescott, Trine, additional, Houge, Gunnar, additional, Brække, Kristin, additional, Rosendahl, Karen, additional, Nishimura, Gen, additional, FitzPatrick, David R., additional, and Spranger, Jürgen, additional
Published: 2015
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28. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Author: 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
Published: 2015
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29. A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX

Author: Ansari, Morad, primary, Rainger, Jacqueline K., additional, Murray, Jennie E., additional, Hanson, Isabel, additional, Firth, Helen V., additional, Mehendale, Felicity, additional, Amiel, Jeanne, additional, Gordon, Christopher T., additional, Percesepe, Antonio, additional, Mazzanti, Laura, additional, Fryer, Alan, additional, Ferrari, Paola, additional, Devriendt, Koenraad, additional, Temple, I. Karen, additional, and FitzPatrick, David R., additional
Published: 2014
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30. The genetic architecture of microphthalmia, anophthalmia and coloboma

Author: Williamson, Kathleen A., primary and FitzPatrick, David R., additional
Published: 2014
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31. Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

Author: 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
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32. Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

Author: 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
Published: 2014
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33. Cornelia de Lange syndrome

Author: FitzPatrick, David R., primary
Published: 2011
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34. Genetic and epigenetic approaches to understanding the basis of human developmental anomalies

Author: FitzPatrick, David R, primary
Published: 2011
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35. Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

Author: Southgate, Laura, primary, Machado, Rajiv D., additional, Snape, Katie M., additional, Primeau, Martin, additional, Dafou, Dimitra, additional, Ruddy, Deborah M., additional, Branney, Peter A., additional, Fisher, Malcolm, additional, Lee, Grace J., additional, Simpson, Michael A., additional, He, Yi, additional, Bradshaw, Teisha Y., additional, Blaumeiser, Bettina, additional, Winship, William S., additional, Reardon, Willie, additional, Maher, Eamonn R., additional, FitzPatrick, David R., additional, Wuyts, Wim, additional, Zenker, Martin, additional, Lamarche-Vane, Nathalie, additional, and Trembath, Richard C., additional
Published: 2011
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36. Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Author: Pasutto, Francesca, primary, Sticht, Heinrich, additional, Hammersen, Gerhard, additional, Gillessen-Kaesbach, Gabriele, additional, FitzPatrick, David R., additional, Nürnberg, Gudrun, additional, Brasch, Frank, additional, Schirmer-Zimmermann, Heidemarie, additional, Tolmie, John L., additional, Chitayat, David, additional, Houge, Gunnar, additional, Fernández-Martínez, Lorena, additional, Keating, Sarah, additional, Mortier, Geert, additional, Hennekam, Raoul C.M., additional, von der Wense, Axel, additional, Slavotinek, Anne, additional, Meinecke, Peter, additional, Bitoun, Pierre, additional, Becker, Christian, additional, Nürnberg, Peter, additional, Reis, André, additional, and Rauch, Anita, additional
Published: 2007
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37. CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1

Author: Winnepenninckx, Birgitta, primary, Debacker, Kim, additional, Ramsay, Jacqueline, additional, Smeets, Dominique, additional, Smits, Arie, additional, FitzPatrick, David R., additional, and Kooy, R. Frank, additional
Published: 2007
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38. 3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

Author: Willatt, Lionel, primary, Cox, James, additional, Barber, John, additional, Cabanas, Elisabet Dachs, additional, Collins, Amanda, additional, Donnai, Dian, additional, FitzPatrick, David R., additional, Maher, Eddy, additional, Martin, Howard, additional, Parnau, Josep, additional, Pindar, Lesley, additional, Ramsay, Jacqueline, additional, Shaw-Smith, Charles, additional, Sistermans, Erik A., additional, Tettenborn, Michael, additional, Trump, Dorothy, additional, de Vries, Bert B.A., additional, Walker, Kate, additional, and Raymond, F. Lucy, additional
Published: 2005
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39. Genetics of disease

Author: FitzPatrick, David R, primary and van Heyningen, Veronica, additional
Published: 2005
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40. Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

Author: Ragge, Nicola K., primary, Brown, Alison G., additional, Poloschek, Charlotte M., additional, Lorenz, Birgit, additional, Henderson, R. Alex, additional, Clarke, Michael P., additional, Russell-Eggitt, Isabelle, additional, Fielder, Alistair, additional, Gerrelli, Dianne, additional, Martinez-Barbera, Juan Pedro, additional, Ruddle, Piers, additional, Hurst, Jane, additional, Collin, J. Richard O., additional, Salt, Alison, additional, Cooper, Simon T., additional, Thompson, Pamela J., additional, Sisodiya, Sanjay M., additional, Williamson, Kathleen A., additional, FitzPatrick, David R., additional, Heyningen, Veronica van, additional, and Hanson, Isabel M., additional
Published: 2005
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41. Developmental eye disorders

Author: FitzPatrick, David R, primary and Heyningen, Veronica van, additional
Published: 2005
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42. Transcriptional consequences of autosomal trisomy: primary gene dosage with complex downstream effects

Author: FitzPatrick, David R., primary
Published: 2005
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43. DNA methylation and the expanding epigenetics of T cell lineage commitment

Author: Wilson, Christopher B., primary, Makar, Karen W., additional, Shnyreva, Maria, additional, and Fitzpatrick, David R., additional
Published: 2005
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44. Methylation and demethylation in the regulation of genes, cells, and responses in the immune system

Author: Fitzpatrick, David R, primary and Wilson, Christopher B, additional
Published: 2003
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45. A Critical Role for Dnmt1 and DNA Methylation in T Cell Development, Function, and Survival

Author: Lee, Peggy P., primary, Fitzpatrick, David R., additional, Beard, Caroline, additional, Jessup, Heidi K., additional, Lehar, Sophie, additional, Makar, Karen W., additional, Pérez-Melgosa, Mercedes, additional, Sweetser, Marianne T., additional, Schlissel, Mark S., additional, Nguyen, Suzanne, additional, Cherry, Sara R., additional, Tsai, Jeff H., additional, Tucker, Sean M., additional, Weaver, William M., additional, Kelso, Anne, additional, Jaenisch, Rudolf, additional, and Wilson, Christopher B., additional
Published: 2001
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46. Mutations in the 3β-Hydroxysterol Δ24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis

Author: Waterham, Hans R., primary, Koster, Janet, additional, Romeijn, Gerrit Jan, additional, Hennekam, Raoul C.M., additional, Vreken, Peter, additional, Andersson, Hans C., additional, FitzPatrick, David R., additional, Kelley, Richard. I., additional, and Wanders, Ronald J.A., additional
Published: 2001
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47. Dengue virus binding to human leukocyte cell lines: receptor usage differs between cell types and virus strains

Author: Bielefeldt-Ohmann, Helle, primary, Meyer, Michelle, additional, Fitzpatrick, David R, additional, and Mackenzie, John S, additional
Published: 2001
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48. A Locus for Isolated Cleft Palate, Located on Human Chromosome 2q32

Author: Brewer, Carole M., primary, Leek, Jack P., additional, Green, Andrew J., additional, Holloway, Susan, additional, Bonthron, David T., additional, Markham, Alexander F., additional, and FitzPatrick, David R., additional
Published: 1999
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49. The Molecular Basis of Malonyl-CoA Decarboxylase Deficiency

Author: FitzPatrick, David R., primary, Hill, Alison, additional, Tolmie, John L., additional, Thorburn, David R., additional, and Christodoulou, John, additional
Published: 1999
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50. The Gene for Cherubism Maps to Chromosome 4p16.3

Author: Mangion, Jonathan, primary, Rahman, Nazneen, additional, Edkins, Sarah, additional, Barfoot, Rita, additional, Nguyen, Trang, additional, Sigurdsson, Asgeir, additional, Townend, John V., additional, Fitzpatrick, David R., additional, Flanagan, Adrienne M., additional, and Stratton, Michael R., additional
Published: 1999
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