Search

Your search keyword '"FitzPatrick, David R."' showing total 33 results
Start Over Author "FitzPatrick, David R." Publisher springer science and business media llc
33 results on '"FitzPatrick, David R."'

1. A human embryonic limb cell atlas resolved in space and time

Author

Zhang, Bao, primary, He, Peng, additional, Lawrence, John E. G., additional, Wang, Shuaiyu, additional, Tuck, Elizabeth, additional, Williams, Brian A., additional, Roberts, Kenny, additional, Kleshchevnikov, Vitalii, additional, Mamanova, Lira, additional, Bolt, Liam, additional, Polanski, Krzysztof, additional, Li, Tong, additional, Elmentaite, Rasa, additional, Fasouli, Eirini S., additional, Prete, Martin, additional, He, Xiaoling, additional, Yayon, Nadav, additional, Fu, Yixi, additional, Yang, Hao, additional, Liang, Chen, additional, Zhang, Hui, additional, Blain, Raphael, additional, Chedotal, Alain, additional, FitzPatrick, David R., additional, Firth, Helen, additional, Dean, Andrew, additional, Bayraktar, Omer Ali, additional, Marioni, John C., additional, Barker, Roger A., additional, Storer, Mekayla A., additional, Wold, Barbara J., additional, Zhang, Hongbo, additional, and Teichmann, Sarah A., additional

Published
2023
Full Text
View/download PDF

2. Recommendations for clinical interpretation of variants found in non-coding regions of the genome

Author

Ellingford, Jamie M., primary, Ahn, Joo Wook, additional, Bagnall, Richard D., additional, Baralle, Diana, additional, Barton, Stephanie, additional, Campbell, Chris, additional, Downes, Kate, additional, Ellard, Sian, additional, Duff-Farrier, Celia, additional, FitzPatrick, David R., additional, Greally, John M., additional, Ingles, Jodie, additional, Krishnan, Neesha, additional, Lord, Jenny, additional, Martin, Hilary C., additional, Newman, William G., additional, O’Donnell-Luria, Anne, additional, Ramsden, Simon C., additional, Rehm, Heidi L., additional, Richardson, Ebony, additional, Singer-Berk, Moriel, additional, Taylor, Jenny C., additional, Williams, Maggie, additional, Wood, Jordan C., additional, Wright, Caroline F., additional, Harrison, Steven M., additional, and Whiffin, Nicola, additional

Published
2022
Full Text
View/download PDF

4. The genetic architecture of aniridia and Gillespie syndrome

Author

Hall, Hildegard Nikki, Williamson, Kathleen A., and FitzPatrick, David R.

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Cerebellar Ataxia, Iris, WAGR syndrome, Review, Biology, Gillespie syndrome, 03 medical and health sciences, Intellectual Disability, Genetics, medicine, Animals, Humans, Eye Proteins, Aniridia, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Cerebellar ataxia, 030305 genetics & heredity, Partial aniridia, Aplasia, medicine.disease, eye diseases, Human genetics, 3. Good health, Mutation, sense organs, PAX6, medicine.symptom
Abstract

Absence of part or all of the iris, aniridia, is a feature of several genetically distinct conditions. This review focuses on iris development and then the clinical features and molecular genetics of these iris malformations. Classical aniridia, a panocular eye malformation including foveal hypoplasia, is the archetypal phenotype associated with heterozygous PAX6 loss-of-function mutations. Since this was identified in 1991, many genetic mechanisms of PAX6 inactivation have been elucidated, the commonest alleles being intragenic mutations causing premature stop codons, followed by those causing C-terminal extensions. Rarely, aniridia cases are associated with FOXC1, PITX2 and/or their regulatory regions. Aniridia can also occur as a component of many severe global eye malformations. Gillespie syndrome—a triad of partial aniridia, non-progressive cerebellar ataxia and intellectual disability—is phenotypically and genotypically distinct from classical aniridia. The causative gene has recently been identified as ITPR1. The same characteristic Gillespie syndrome-like iris, with aplasia of the pupillary sphincter and a scalloped margin, is seen in ACTA2-related multisystemic smooth muscle dysfunction syndrome. WAGR syndrome (Wilms tumour, aniridia, genitourinary anomalies and mental retardation/intellectual disability), is caused by contiguous deletion of PAX6 and WT1 on chromosome 11p. Deletions encompassing BDNF have been causally implicated in the obesity and intellectual disability associated with the condition. Lastly, we outline a genetic investigation strategy for aniridia in light of recent developments, suggesting an approach based principally on chromosomal array and gene panel testing. This strategy aims to test all known aniridia loci—including the rarer, life-limiting causes—whilst remaining simple and practical.

Published
2018

5. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

Author

Krab, Lianne C., primary, Marcos-Alcalde, Iñigo, additional, Assaf, Melissa, additional, Balasubramanian, Meena, additional, Andersen, Janne Bayer, additional, Bisgaard, Anne-Marie, additional, Fitzpatrick, David R., additional, Gudmundsson, Sanna, additional, Huisman, Sylvia A., additional, Kalayci, Tugba, additional, Maas, Saskia M., additional, Martinez, Francisco, additional, McKee, Shane, additional, Menke, Leonie A., additional, Mulder, Paul A., additional, Murch, Oliver D., additional, Parker, Michael, additional, Pie, Juan, additional, Ramos, Feliciano J., additional, Rieubland, Claudine, additional, Rosenfeld Mokry, Jill A., additional, Scarano, Emanuela, additional, Shinawi, Marwan, additional, Gómez-Puertas, Paulino, additional, Tümer, Zeynep, additional, and Hennekam, Raoul C., additional

Published
2020
Full Text
View/download PDF

6. Contribution of retrotransposition to developmental disorders

Author

Gardner, Eugene J., primary, Prigmore, Elena, additional, Gallone, Giuseppe, additional, Danecek, Petr, additional, Samocha, Kaitlin E., additional, Handsaker, Juliet, additional, Gerety, Sebastian S., additional, Ironfield, Holly, additional, Short, Patrick J., additional, Sifrim, Alejandro, additional, Singh, Tarjinder, additional, Chandler, Kate E., additional, Clement, Emma, additional, Lachlan, Katherine L., additional, Prescott, Katrina, additional, Rosser, Elisabeth, additional, FitzPatrick, David R., additional, Firth, Helen V., additional, and Hurles, Matthew E., additional

Published
2019
Full Text
View/download PDF

7. Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

Author

Thormann, Anja, primary, Halachev, Mihail, additional, McLaren, William, additional, Moore, David J., additional, Svinti, Victoria, additional, Campbell, Archie, additional, Kerr, Shona M., additional, Tischkowitz, Marc, additional, Hunt, Sarah E., additional, Dunlop, Malcolm G., additional, Hurles, Matthew E., additional, Wright, Caroline F., additional, Firth, Helen V., additional, Cunningham, Fiona, additional, and FitzPatrick, David R., additional

Published
2019
Full Text
View/download PDF

8. Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

Author

Niemi, Mari E. K., primary, Martin, Hilary C., additional, Rice, Daniel L., additional, Gallone, Giuseppe, additional, Gordon, Scott, additional, Kelemen, Martin, additional, McAloney, Kerrie, additional, McRae, Jeremy, additional, Radford, Elizabeth J., additional, Yu, Sui, additional, Gecz, Jozef, additional, Martin, Nicholas G., additional, Wright, Caroline F., additional, Fitzpatrick, David R., additional, Firth, Helen V., additional, Hurles, Matthew E., additional, and Barrett, Jeffrey C., additional

Published
2018
Full Text
View/download PDF

9. De novo mutations in regulatory elements in neurodevelopmental disorders

Author

Short, Patrick J., primary, McRae, Jeremy F., additional, Gallone, Giuseppe, additional, Sifrim, Alejandro, additional, Won, Hyejung, additional, Geschwind, Daniel H., additional, Wright, Caroline F., additional, Firth, Helen V., additional, FitzPatrick, David R., additional, Barrett, Jeffrey C., additional, and Hurles, Matthew E., additional

Published
2018
Full Text
View/download PDF

12. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Author

Sifrim, Alejandro, Hitz, Marc-Phillip, Wilsdon, Anna, Breckpot, Jeroen, Turki, Saeed H Al, Thienpont, Bernard, McRae, Jeremy, Fitzgerald, Tomas W, Singh, Tarjinder, Swaminathan, Ganesh Jawahar, Prigmore, Elena, Rajan, Diana, Abdul-Khaliq, Hashim, Banka, Siddharth, Bauer, Ulrike MM, Bentham, Jamie, Berger, Felix, Bhattacharya, Shoumo, Bu'Lock, Frances, Canham, Natalie, Colgiu, Irina-Gabriela, Cosgrove, Catherine, Cox, Helen, Daehnert, Ingo, Daly, Allan, Danesh, John, Fryer, Alan, Gewillig, Marc, Hobson, Emma, Hoff, Kirstin, Homfray, Tessa, INTERVAL Study, Kahlert, Anne-Karin, Ketley, Ami, Kramer, Hans-Heiner, Lachlan, Katherine, Lampe, Anne Katrin, Louw, Jacoba J, Manickara, Ashok Kumar, Manase, Dorin, McCarthy, Karen P, Metcalfe, Kay, Moore, Carmel, Newbury-Ecob, Ruth, Omer, Seham Osman, Ouwehand, Willem H, Park, Soo-Mi, Parker, Michael J, Pickardt, Thomas, Pollard, Martin O, Robert, Leema, Roberts, David J, Sambrook, Jennifer, Setchfield, Kerry, Stiller, Brigitte, Thornborough, Chris, Toka, Okan, Watkins, Hugh, Williams, Denise, Wright, Michael, Mital, Seema, Daubeney, Piers EF, Keavney, Bernard, Goodship, Judith, UK10K Consortium, Abu-Sulaiman, Riyadh Mahdi, Klaassen, Sabine, Wright, Caroline F, Firth, Helen V, Barrett, Jeffrey C, Devriendt, Koenraad, FitzPatrick, David R, Brook, J David, Deciphering Developmental Disorders Study, Hurles, Matthew E, Sifrim, Alejandro [0000-0001-8247-4020], Thienpont, Bernard [0000-0002-8772-6845], Banka, Siddharth [0000-0002-8527-2210], Pollard, Martin O [0000-0001-8738-0920], Mital, Seema [0000-0002-7643-4484], Keavney, Bernard [0000-0001-9573-0812], Barrett, Jeffrey C [0000-0002-1152-370X], and Apollo - University of Cambridge Repository

Subjects
Heart Defects, Congenital, Male, Protein Conformation, Syndrome, Autoantigens, CDC2 Protein Kinase, Mutation, Humans, Exome, Female, cardiovascular diseases, Protein Kinase C, Mi-2 Nucleosome Remodeling and Deacetylase Complex, Sequence Deletion
Abstract

Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (∼2.7%), suggesting a considerable role for de novo mutations (DNMs) and/or incomplete penetrance. De novo protein-truncating variants (PTVs) have been shown to be enriched among the 10% of 'syndromic' patients with extra-cardiac manifestations. We exome sequenced 1,891 probands, including both syndromic CHD (S-CHD, n = 610) and nonsyndromic CHD (NS-CHD, n = 1,281). In S-CHD, we confirmed a significant enrichment of de novo PTVs but not inherited PTVs in known CHD-associated genes, consistent with recent findings. Conversely, in NS-CHD we observed significant enrichment of PTVs inherited from unaffected parents in CHD-associated genes. We identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1. Our study finds evidence for distinct genetic architectures underlying the low sibling recurrence risk in S-CHD and NS-CHD.

Published
2016

13. Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Author

Akawi, Nadia, McRae, Jeremy, Ansari, Morad, Balasubramanian, Meena, Blyth, Moira, Brady, Angela F, Clayton, Stephen, Cole, Trevor, Deshpande, Charu, Fitzgerald, Tomas W, Foulds, Nicola, Francis, Richard, Gabriel, George, Gerety, Sebastian S, Goodship, Judith, Hobson, Emma, Jones, Wendy D, Joss, Shelagh, King, Daniel, Klena, Nikolai, Kumar, Ajith, Lees, Melissa, Lelliott, Chris, Lord, Jenny, McMullan, Dominic, O'Regan, Mary, Osio, Deborah, Piombo, Virginia, Prigmore, Elena, Rajan, Diana, Rosser, Elisabeth, Sifrim, Alejandro, Smith, Audrey, Swaminathan, Ganesh J, Turnpenny, Peter, Whitworth, James, Wright, Caroline F, Firth, Helen V, Barrett, Jeffrey C, Lo, Cecilia W, FitzPatrick, David R, Hurles, Matthew E, DDD Study, Kumar, Ajith [0000-0003-3878-2856], Lelliott, Chris [0000-0001-8087-4530], Barrett, Jeffrey C [0000-0002-1152-370X], and Apollo - University of Cambridge Repository

Subjects
Family Health, Male, Protein-Arginine N-Methyltransferases, Genotype, Developmental Disabilities, Ubiquitin-Protein Ligases, Genetic Variation, Cell Cycle Proteins, Genes, Recessive, Sequence Analysis, DNA, United Kingdom, Pedigree, Phenotype, Matrix Metalloproteinases, Secreted, Humans, Exome, Female, Genetic Predisposition to Disease, human activities, Genetic Association Studies
Abstract

Discovery of most autosomal recessive disease-associated genes has involved analysis of large, often consanguineous multiplex families or small cohorts of unrelated individuals with a well-defined clinical condition. Discovery of new dominant causes of rare, genetically heterogeneous developmental disorders has been revolutionized by exome analysis of large cohorts of phenotypically diverse parent-offspring trios1,2. Here we analyzed 4,125 families with diverse, rare and genetically heterogeneous developmental disorders and identified four new autosomal recessive disorders. These four disorders were identified by integrating Mendelian filtering (selecting probands with rare, biallelic and putatively damaging variants in the same gene) with statistical assessments of (i) the likelihood of sampling the observed genotypes from the general population and (ii) the phenotypic similarity of patients with recessive variants in the same candidate gene. This new paradigm promises to catalyze the discovery of novel recessive disorders, especially those with less consistent or nonspecific clinical presentations and those caused predominantly by compound heterozygous genotypes.

Published
2015

14. Correction: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Author

Shaw, Natalie D, primary, Brand, Harrison, additional, Kupchinsky, Zachary A, additional, Bengani, Hemant, additional, Plummer, Lacey, additional, Jones, Takako I, additional, Erdin, Serkan, additional, Williamson, Kathleen A, additional, Rainger, Joe, additional, Stortchevoi, Alexei, additional, Samocha, Kaitlin, additional, Currall, Benjamin B, additional, Dunican, Donncha S, additional, Collins, Ryan L, additional, Willer, Jason R, additional, Lek, Angela, additional, Lek, Monkol, additional, Nassan, Malik, additional, Pereira, Shahrin, additional, Kammin, Tammy, additional, Lucente, Diane, additional, Silva, Alexandra, additional, Seabra, Catarina M, additional, Chiang, Colby, additional, An, Yu, additional, Ansari, Morad, additional, Rainger, Jacqueline K, additional, Joss, Shelagh, additional, Smith, Jill Clayton, additional, Lippincott, Margaret F, additional, Singh, Sylvia S, additional, Patel, Nirav, additional, Jing, Jenny W, additional, Law, Jennifer R, additional, Ferraro, Nalton, additional, Verloes, Alain, additional, Rauch, Anita, additional, Steindl, Katharina, additional, Zweier, Markus, additional, Scheer, Ianina, additional, Sato, Daisuke, additional, Okamoto, Nobuhiko, additional, Jacobsen, Christina, additional, Tryggestad, Jeanie, additional, Chernausek, Steven, additional, Schimmenti, Lisa A, additional, Brasseur, Benjamin, additional, Cesaretti, Claudia, additional, García-Ortiz, Jose E, additional, Buitrago, Tatiana Pineda, additional, Silva, Orlando Perez, additional, Hoffman, Jodi D, additional, Mühlbauer, Wolfgang, additional, Ruprecht, Klaus W, additional, Loeys, Bart L, additional, Shino, Masato, additional, Kaindl, Angela M, additional, Cho, Chie-Hee, additional, Morton, Cynthia C, additional, Meehan, Richard R, additional, van Heyningen, Veronica, additional, Liao, Eric C, additional, Balasubramanian, Ravikumar, additional, Hall, Janet E, additional, Seminara, Stephanie B, additional, Macarthur, Daniel, additional, Moore, Steven A, additional, Yoshiura, Koh-ichiro, additional, Gusella, James F, additional, Marsh, Joseph A, additional, Graham, John M, additional, Lin, Angela E, additional, Katsanis, Nicholas, additional, Jones, Peter L, additional, Crowley, William F, additional, Davis, Erica E, additional, FitzPatrick, David R, additional, and Talkowski, Michael E, additional

Published
2017
Full Text
View/download PDF

16. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Author

Low, Karen J, primary, Ansari, Morad, additional, Abou Jamra, Rami, additional, Clarke, Angus, additional, El Chehadeh, Salima, additional, FitzPatrick, David R, additional, Greenslade, Mark, additional, Henderson, Alex, additional, Hurst, Jane, additional, Keller, Kory, additional, Kuentz, Paul, additional, Prescott, Trine, additional, Roessler, Franziska, additional, Selmer, Kaja K, additional, Schneider, Michael C, additional, Stewart, Fiona, additional, Tatton-Brown, Katrina, additional, Thevenon, Julien, additional, Vigeland, Magnus D, additional, Vogt, Julie, additional, Willems, Marjolaine, additional, Zonana, Jonathan, additional, Study, D D D, additional, and Smithson, Sarah F, additional

Published
2017
Full Text
View/download PDF

17. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Author

Shaw, Natalie D, primary, Brand, Harrison, additional, Kupchinsky, Zachary A, additional, Bengani, Hemant, additional, Plummer, Lacey, additional, Jones, Takako I, additional, Erdin, Serkan, additional, Williamson, Kathleen A, additional, Rainger, Joe, additional, Stortchevoi, Alexei, additional, Samocha, Kaitlin, additional, Currall, Benjamin B, additional, Dunican, Donncha S, additional, Collins, Ryan L, additional, Willer, Jason R, additional, Lek, Angela, additional, Lek, Monkol, additional, Nassan, Malik, additional, Pereira, Shahrin, additional, Kammin, Tammy, additional, Lucente, Diane, additional, Silva, Alexandra, additional, Seabra, Catarina M, additional, Chiang, Colby, additional, An, Yu, additional, Ansari, Morad, additional, Rainger, Jacqueline K, additional, Joss, Shelagh, additional, Smith, Jill Clayton, additional, Lippincott, Margaret F, additional, Singh, Sylvia S, additional, Patel, Nirav, additional, Jing, Jenny W, additional, Law, Jennifer R, additional, Ferraro, Nalton, additional, Verloes, Alain, additional, Rauch, Anita, additional, Steindl, Katharina, additional, Zweier, Markus, additional, Scheer, Ianina, additional, Sato, Daisuke, additional, Okamoto, Nobuhiko, additional, Jacobsen, Christina, additional, Tryggestad, Jeanie, additional, Chernausek, Steven, additional, Schimmenti, Lisa A, additional, Brasseur, Benjamin, additional, Cesaretti, Claudia, additional, García-Ortiz, Jose E, additional, Buitrago, Tatiana Pineda, additional, Silva, Orlando Perez, additional, Hoffman, Jodi D, additional, Mühlbauer, Wolfgang, additional, Ruprecht, Klaus W, additional, Loeys, Bart L, additional, Shino, Masato, additional, Kaindl, Angela M, additional, Cho, Chie-Hee, additional, Morton, Cynthia C, additional, Meehan, Richard R, additional, van Heyningen, Veronica, additional, Liao, Eric C, additional, Balasubramanian, Ravikumar, additional, Hall, Janet E, additional, Seminara, Stephanie B, additional, Macarthur, Daniel, additional, Moore, Steven A, additional, Yoshiura, Koh-ichiro, additional, Gusella, James F, additional, Marsh, Joseph A, additional, Graham, John M, additional, Lin, Angela E, additional, Katsanis, Nicholas, additional, Jones, Peter L, additional, Crowley, William F, additional, Davis, Erica E, additional, FitzPatrick, David R, additional, and Talkowski, Michael E, additional

Published
2017
Full Text
View/download PDF

18. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Author

Redin, Claire, primary, Brand, Harrison, additional, Collins, Ryan L, additional, Kammin, Tammy, additional, Mitchell, Elyse, additional, Hodge, Jennelle C, additional, Hanscom, Carrie, additional, Pillalamarri, Vamsee, additional, Seabra, Catarina M, additional, Abbott, Mary-Alice, additional, Abdul-Rahman, Omar A, additional, Aberg, Erika, additional, Adley, Rhett, additional, Alcaraz-Estrada, Sofia L, additional, Alkuraya, Fowzan S, additional, An, Yu, additional, Anderson, Mary-Anne, additional, Antolik, Caroline, additional, Anyane-Yeboa, Kwame, additional, Atkin, Joan F, additional, Bartell, Tina, additional, Bernstein, Jonathan A, additional, Beyer, Elizabeth, additional, Blumenthal, Ian, additional, Bongers, Ernie M H F, additional, Brilstra, Eva H, additional, Brown, Chester W, additional, Brüggenwirth, Hennie T, additional, Callewaert, Bert, additional, Chiang, Colby, additional, Corning, Ken, additional, Cox, Helen, additional, Cuppen, Edwin, additional, Currall, Benjamin B, additional, Cushing, Tom, additional, David, Dezso, additional, Deardorff, Matthew A, additional, Dheedene, Annelies, additional, D'Hooghe, Marc, additional, de Vries, Bert B A, additional, Earl, Dawn L, additional, Ferguson, Heather L, additional, Fisher, Heather, additional, FitzPatrick, David R, additional, Gerrol, Pamela, additional, Giachino, Daniela, additional, Glessner, Joseph T, additional, Gliem, Troy, additional, Grady, Margo, additional, Graham, Brett H, additional, Griffis, Cristin, additional, Gripp, Karen W, additional, Gropman, Andrea L, additional, Hanson-Kahn, Andrea, additional, Harris, David J, additional, Hayden, Mark A, additional, Hill, Rosamund, additional, Hochstenbach, Ron, additional, Hoffman, Jodi D, additional, Hopkin, Robert J, additional, Hubshman, Monika W, additional, Innes, A Micheil, additional, Irons, Mira, additional, Irving, Melita, additional, Jacobsen, Jessie C, additional, Janssens, Sandra, additional, Jewett, Tamison, additional, Johnson, John P, additional, Jongmans, Marjolijn C, additional, Kahler, Stephen G, additional, Koolen, David A, additional, Korzelius, Jerome, additional, Kroisel, Peter M, additional, Lacassie, Yves, additional, Lawless, William, additional, Lemyre, Emmanuelle, additional, Leppig, Kathleen, additional, Levin, Alex V, additional, Li, Haibo, additional, Li, Hong, additional, Liao, Eric C, additional, Lim, Cynthia, additional, Lose, Edward J, additional, Lucente, Diane, additional, Macera, Michael J, additional, Manavalan, Poornima, additional, Mandrile, Giorgia, additional, Marcelis, Carlo L, additional, Margolin, Lauren, additional, Mason, Tamara, additional, Masser-Frye, Diane, additional, McClellan, Michael W, additional, Mendoza, Cinthya J Zepeda, additional, Menten, Björn, additional, Middelkamp, Sjors, additional, Mikami, Liya R, additional, Moe, Emily, additional, Mohammed, Shehla, additional, Mononen, Tarja, additional, Mortenson, Megan E, additional, Moya, Graciela, additional, Nieuwint, Aggie W, additional, Ordulu, Zehra, additional, Parkash, Sandhya, additional, Pauker, Susan P, additional, Pereira, Shahrin, additional, Perrin, Danielle, additional, Phelan, Katy, additional, Aguilar, Raul E Piña, additional, Poddighe, Pino J, additional, Pregno, Giulia, additional, Raskin, Salmo, additional, Reis, Linda, additional, Rhead, William, additional, Rita, Debra, additional, Renkens, Ivo, additional, Roelens, Filip, additional, Ruliera, Jayla, additional, Rump, Patrick, additional, Schilit, Samantha L P, additional, Shaheen, Ranad, additional, Sparkes, Rebecca, additional, Spiegel, Erica, additional, Stevens, Blair, additional, Stone, Matthew R, additional, Tagoe, Julia, additional, Thakuria, Joseph V, additional, van Bon, Bregje W, additional, van de Kamp, Jiddeke, additional, van Der Burgt, Ineke, additional, van Essen, Ton, additional, van Ravenswaaij-Arts, Conny M, additional, van Roosmalen, Markus J, additional, Vergult, Sarah, additional, Volker-Touw, Catharina M L, additional, Warburton, Dorothy P, additional, Waterman, Matthew J, additional, Wiley, Susan, additional, Wilson, Anna, additional, Yerena-de Vega, Maria de la Concepcion A, additional, Zori, Roberto T, additional, Levy, Brynn, additional, Brunner, Han G, additional, de Leeuw, Nicole, additional, Kloosterman, Wigard P, additional, Thorland, Erik C, additional, Morton, Cynthia C, additional, Gusella, James F, additional, and Talkowski, Michael E, additional

Published
2016
Full Text
View/download PDF

19. Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome

Author

Naville, Magali, primary, Ishibashi, Minaka, additional, Ferg, Marco, additional, Bengani, Hemant, additional, Rinkwitz, Silke, additional, Krecsmarik, Monika, additional, Hawkins, Thomas A., additional, Wilson, Stephen W., additional, Manning, Elizabeth, additional, Chilamakuri, Chandra S. R., additional, Wilson, David I., additional, Louis, Alexandra, additional, Lucy Raymond, F., additional, Rastegar, Sepand, additional, Strähle, Uwe, additional, Lenhard, Boris, additional, Bally-Cuif, Laure, additional, van Heyningen, Veronica, additional, FitzPatrick, David R., additional, Becker, Thomas S., additional, and Roest Crollius, Hugues, additional

Published
2015
Full Text
View/download PDF

20. Clinical utility gene card for: Cornelia de Lange syndrome

Author

Ramos, Feliciano J, primary, Puisac, Beatriz, additional, Baquero-Montoya, Carolina, additional, Gil-Rodríguez, Ma Concepción, additional, Bueno, Inés, additional, Deardorff, Matthew A, additional, Hennekam, Raoul C, additional, Kaiser, Frank J, additional, Krantz, Ian D, additional, Musio, Antonio, additional, Selicorni, Angelo, additional, FitzPatrick, David R, additional, and Pié, Juan, additional

Published
2014
Full Text
View/download PDF

23. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

Author

Snape, Katie, primary, Hanks, Sandra, additional, Ruark, Elise, additional, Barros-Núñez, Patricio, additional, Elliott, Anna, additional, Murray, Anne, additional, Lane, Andrew H, additional, Shannon, Nora, additional, Callier, Patrick, additional, Chitayat, David, additional, Clayton-Smith, Jill, additional, FitzPatrick, David R, additional, Gisselsson, David, additional, Jacquemont, Sebastien, additional, Asakura-Hay, Keiko, additional, Micale, Mark A, additional, Tolmie, John, additional, Turnpenny, Peter D, additional, Wright, Michael, additional, Douglas, Jenny, additional, and Rahman, Nazneen, additional

Published
2011
Full Text
View/download PDF

24. The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

Author

Lynch, Sally Ann, primary, Foulds, Nicola, additional, Thuresson, Ann-Charlotte, additional, Collins, Amanda L, additional, Annerén, Göran, additional, Hedberg, Bernt-Oves, additional, Delaney, Carol A, additional, Iremonger, James, additional, Murray, Caroline M, additional, Crolla, John A, additional, Costigan, Colm, additional, Lam, Wayne, additional, Fitzpatrick, David R, additional, Regan, Regina, additional, Ennis, Sean, additional, and Sharkey, Freddie, additional

Published
2011
Full Text
View/download PDF

25. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Author

Benko, Sabina, primary, Fantes, Judy A, additional, Amiel, Jeanne, additional, Kleinjan, Dirk-Jan, additional, Thomas, Sophie, additional, Ramsay, Jacqueline, additional, Jamshidi, Negar, additional, Essafi, Abdelkader, additional, Heaney, Simon, additional, Gordon, Christopher T, additional, McBride, David, additional, Golzio, Christelle, additional, Fisher, Malcolm, additional, Perry, Paul, additional, Abadie, Véronique, additional, Ayuso, Carmen, additional, Holder-Espinasse, Muriel, additional, Kilpatrick, Nicky, additional, Lees, Melissa M, additional, Picard, Arnaud, additional, Temple, I Karen, additional, Thomas, Paul, additional, Vazquez, Marie-Paule, additional, Vekemans, Michel, additional, Crollius, Hugues Roest, additional, Hastie, Nicholas D, additional, Munnich, Arnold, additional, Etchevers, Heather C, additional, Pelet, Anna, additional, Farlie, Peter G, additional, FitzPatrick, David R, additional, and Lyonnet, Stanislas, additional

Published
2009
Full Text
View/download PDF

32. Mutations in SOX2 cause anophthalmia

Author

Fantes, Judy, primary, Ragge, Nicola K., additional, Lynch, Sally-Ann, additional, McGill, Niolette I., additional, Collin, J. Richard O., additional, Howard-Peebles, Patricia N., additional, Hayward, Caroline, additional, Vivian, Anthony J., additional, Williamson, Kathy, additional, van Heyningen, Veronica, additional, and FitzPatrick, David R., additional

Published
2003
Full Text
View/download PDF

33. Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

Author

William M. McLaren, Victoria Svinti, Sarah E. Hunt, Malcolm G. Dunlop, David R. FitzPatrick, Archie Campbell, Shona M. Kerr, Marc Tischkowitz, Fiona Cunningham, Caroline F. Wright, David Moore, Matthew E. Hurles, Mihail Halachev, Anja Thormann, Helen V. Firth, Svinti, Victoria [0000-0001-9926-0416], Campbell, Archie [0000-0003-0198-5078], Hunt, Sarah E [0000-0002-8350-1235], Dunlop, Malcolm G [0000-0002-3033-5851], Wright, Caroline F [0000-0003-2958-5076], Cunningham, Fiona [0000-0002-7445-2419], FitzPatrick, David R [0000-0003-4861-969X], and Apollo - University of Cambridge Repository

Subjects
0301 basic medicine, Genotype, Computer science, Science, Developmental Disabilities, General Physics and Astronomy, Locus (genetics), 02 engineering and technology, Computational biology, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, Ensembl, Humans, Clinical genetics, Genetic Testing, Allele, lcsh:Science, Exome, Exome sequencing, Alleles, Cancer, Genetic testing, Whole genome sequencing, Multidisciplinary, medicine.diagnostic_test, Whole Genome Sequencing, Genetic heterogeneity, Genome, Human, General Chemistry, Sequence Analysis, DNA, 021001 nanoscience & nanotechnology, Computational biology and bioinformatics, 030104 developmental biology, Phenotype, Molecular Diagnostic Techniques, Mutation, lcsh:Q, 0210 nano-technology
Abstract

We aimed to develop an efficient, flexible and scalable approach to diagnostic genome-wide sequence analysis of genetically heterogeneous clinical presentations. Here we present G2P (www.ebi.ac.uk/gene2phenotype) as an online system to establish, curate and distribute datasets for diagnostic variant filtering via association of allelic requirement and mutational consequence at a defined locus with phenotypic terms, confidence level and evidence links. An extension to Ensembl Variant Effect Predictor (VEP), VEP-G2P was used to filter both disease-associated and control whole exome sequence (WES) with Developmental Disorders G2P (G2PDD; 2044 entries). VEP-G2PDD shows a sensitivity/precision of 97.3%/33% for de novo and 81.6%/22.7% for inherited pathogenic genotypes respectively. Many of the missing genotypes are likely false-positive pathogenic assignments. The expected number and discriminative features of background genotypes are defined using control WES. Using only human genetic data VEP-G2P performs well compared to other freely-available diagnostic systems and future phenotypic matching capabilities should further enhance performance., Diagnostic filtering is an important step to analyze the functional and clinical significance of the large number of genetic variants identified from next-generation genome sequencing data. Here, the authors develop a flexible and scalable system for diagnostic filtering of genetic variants using G2P with Ensembl VEP.

Published
2019

Catalog

Books, media, physical & digital resources
See catalog results