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1.

Genomic newborn screening for rare diseases.

Stark, Zornitza; Scott, Richard H.

Nat Rev Genet ; 24(11): 755-766, 2023 Nov.

Article in English | MEDLINE | ID: mdl-37386126

2.

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.

Stark, Zornitza; Foulger, Rebecca E; Williams, Eleanor; Thompson, Bryony A; Patel, Chirag; Lunke, Sebastian; Snow, Catherine; Leong, Ivone U S; Puzriakova, Arina; Daugherty, Louise C; Leigh, Sarah; Boustred, Christopher; Niblock, Olivia; Rueda-Martin, Antonio; Gerasimenko, Oleg; Savage, Kevin; Bellamy, William; Lin, Victor San Kho; Valls, Roman; Gordon, Lavinia; Brittain, Helen K; Thomas, Ellen R A; Taylor Tavares, Ana Lisa; McEntagart, Meriel; White, Susan M; Tan, Tiong Y; Yeung, Alison; Downie, Lilian; Macciocca, Ivan; Savva, Elena; Lee, Crystle; Roesley, Ain; De Fazio, Paul; Deller, Jane; Deans, Zandra C; Hill, Sue L; Caulfield, Mark J; North, Kathryn N; Scott, Richard H; Rendon, Augusto; Hofmann, Oliver; McDonagh, Ellen M.

Am J Hum Genet ; 108(9): 1551-1557, 2021 09 02.

Article in English | MEDLINE | ID: mdl-34329581

3.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

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.

Am J Hum Genet ; 105(5): 933-946, 2019 11 07.

Article in English | MEDLINE | ID: mdl-31607427

4.

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.

Reid, Kimberley M; Spaull, Robert; Salian, Smrithi; Barwick, Katy; Meyer, Esther; Zhen, Juan; Hirata, Hiromi; Sheipouri, Diba; Benkerroum, Hind; Gorman, Kathleen M; Papandreou, Apostolos; Simpson, Michael A; Hirano, Yoshinobu; Farabella, Irene; Topf, Maya; Grozeva, Detelina; Carss, Keren; Smith, Martin; Pall, Hardev; Lunt, Peter; De Gressi, Susanna; Kamsteeg, Erik-Jan; Haack, Tobias B; Carr, Lucinda; Guerreiro, Rita; Bras, Jose; Maher, Eamonn R; Scott, Richard H; Vandenberg, Robert J; Raymond, F Lucy; Chong, Wui K; Sudhakar, Sniya; Mankad, Kshitij; Reith, Maarten E; Campeau, Philippe M; Harvey, Robert J; Kurian, Manju A.

Mov Disord ; 37(10): 2139-2146, 2022 10.

Article in English | MEDLINE | ID: mdl-35876425

5.

An online compendium of treatable genetic disorders.

Bick, David; Bick, Sarah L; Dimmock, David P; Fowler, Tom A; Caulfield, Mark J; Scott, Richard H.

Am J Med Genet C Semin Med Genet ; 187(1): 48-54, 2021 03.

Article in English | MEDLINE | ID: mdl-33350578

6.

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.

Hyder, Zerin; Calpena, Eduardo; Pei, Yang; Tooze, Rebecca S; Brittain, Helen; Twigg, Stephen R F; Cilliers, Deirdre; Morton, Jenny E V; McCann, Emma; Weber, Astrid; Wilson, Louise C; Douglas, Andrew G L; McGowan, Ruth; Need, Anna; Bond, Andrew; Tavares, Ana Lisa Taylor; Thomas, Ellen R A; Hill, Susan L; Deans, Zandra C; Boardman-Pretty, Freya; Caulfield, Mark; Scott, Richard H; Wilkie, Andrew O M.

Genet Med ; 23(12): 2360-2368, 2021 12.

Article in English | MEDLINE | ID: mdl-34429528

7.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss, Keren J; Arno, Gavin; Erwood, Marie; Stephens, Jonathan; Sanchis-Juan, Alba; Hull, Sarah; Megy, Karyn; Grozeva, Detelina; Dewhurst, Eleanor; Malka, Samantha; Plagnol, Vincent; Penkett, Christopher; Stirrups, Kathleen; Rizzo, Roberta; Wright, Genevieve; Josifova, Dragana; Bitner-Glindzicz, Maria; Scott, Richard H; Clement, Emma; Allen, Louise; Armstrong, Ruth; Brady, Angela F; Carmichael, Jenny; Chitre, Manali; Henderson, Robert H H; Hurst, Jane; MacLaren, Robert E; Murphy, Elaine; Paterson, Joan; Rosser, Elisabeth; Thompson, Dorothy A; Wakeling, Emma; Ouwehand, Willem H; Michaelides, Michel; Moore, Anthony T; Webster, Andrew R; Raymond, F Lucy.

Am J Hum Genet ; 100(1): 75-90, 2017 01 05.

Article in English | MEDLINE | ID: mdl-28041643

8.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

Palmer, Elizabeth E; Kumar, Raman; Gordon, Christopher T; Shaw, Marie; Hubert, Laurence; Carroll, Renee; Rio, Marlène; Murray, Lucinda; Leffler, Melanie; Dudding-Byth, Tracy; Oufadem, Myriam; Lalani, Seema R; Lewis, Andrea M; Xia, Fan; Tam, Allison; Webster, Richard; Brammah, Susan; Filippini, Francesca; Pollard, John; Spies, Judy; Minoche, Andre E; Cowley, Mark J; Risen, Sarah; Powell-Hamilton, Nina N; Tusi, Jessica E; Immken, LaDonna; Nagakura, Honey; Bole-Feysot, Christine; Nitschké, Patrick; Garrigue, Alexandrine; de Saint Basile, Geneviève; Kivuva, Emma; Scott, Richard H; Rendon, Augusto; Munnich, Arnold; Newman, William; Kerr, Bronwyn; Besmond, Claude; Rosenfeld, Jill A; Amiel, Jeanne; Field, Michael; Gecz, Jozef.

Am J Hum Genet ; 101(6): 995-1005, 2017 Dec 07.

Article in English | MEDLINE | ID: mdl-29198722

9.

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.

Lord, Jenny; McMullan, Dominic J; Eberhardt, Ruth Y; Rinck, Gabriele; Hamilton, Susan J; Quinlan-Jones, Elizabeth; Prigmore, Elena; Keelagher, Rebecca; Best, Sunayna K; Carey, Georgina K; Mellis, Rhiannon; Robart, Sarah; Berry, Ian R; Chandler, Kate E; Cilliers, Deirdre; Cresswell, Lara; Edwards, Sandra L; Gardiner, Carol; Henderson, Alex; Holden, Simon T; Homfray, Tessa; Lester, Tracy; Lewis, Rebecca A; Newbury-Ecob, Ruth; Prescott, Katrina; Quarrell, Oliver W; Ramsden, Simon C; Roberts, Eileen; Tapon, Dagmar; Tooley, Madeleine J; Vasudevan, Pradeep C; Weber, Astrid P; Wellesley, Diana G; Westwood, Paul; White, Helen; Parker, Michael; Williams, Denise; Jenkins, Lucy; Scott, Richard H; Kilby, Mark D; Chitty, Lyn S; Hurles, Matthew E; Maher, Eamonn R.

Lancet ; 393(10173): 747-757, 2019 02 23.

Article in English | MEDLINE | ID: mdl-30712880

10.

Whole genome sequencing to screen 100 000 newborns for treatable genetic disorders.

Rahman, Shamima; Bick, David; Scott, Richard H.

J Inherit Metab Dis ; 47(1): 7-8, 2024 01.

Article in English | MEDLINE | ID: mdl-38148645

11.

The Human Phenotype Ontology in 2017.

Köhler, Sebastian; Vasilevsky, Nicole A; Engelstad, Mark; Foster, Erin; McMurry, Julie; Aymé, Ségolène; Baynam, Gareth; Bello, Susan M; Boerkoel, Cornelius F; Boycott, Kym M; Brudno, Michael; Buske, Orion J; Chinnery, Patrick F; Cipriani, Valentina; Connell, Laureen E; Dawkins, Hugh J S; DeMare, Laura E; Devereau, Andrew D; de Vries, Bert B A; Firth, Helen V; Freson, Kathleen; Greene, Daniel; Hamosh, Ada; Helbig, Ingo; Hum, Courtney; Jähn, Johanna A; James, Roger; Krause, Roland; F Laulederkind, Stanley J; Lochmüller, Hanns; Lyon, Gholson J; Ogishima, Soichi; Olry, Annie; Ouwehand, Willem H; Pontikos, Nikolas; Rath, Ana; Schaefer, Franz; Scott, Richard H; Segal, Michael; Sergouniotis, Panagiotis I; Sever, Richard; Smith, Cynthia L; Straub, Volker; Thompson, Rachel; Turner, Catherine; Turro, Ernest; Veltman, Marijcke W M; Vulliamy, Tom; Yu, Jing; von Ziegenweidt, Julie.

Nucleic Acids Res ; 45(D1): D865-D876, 2017 01 04.

Article in English | MEDLINE | ID: mdl-27899602

12.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

McMillin, Margaret J; Beck, Anita E; Chong, Jessica X; Shively, Kathryn M; Buckingham, Kati J; Gildersleeve, Heidi I S; Aracena, Mariana I; Aylsworth, Arthur S; Bitoun, Pierre; Carey, John C; Clericuzio, Carol L; Crow, Yanick J; Curry, Cynthia J; Devriendt, Koenraad; Everman, David B; Fryer, Alan; Gibson, Kate; Giovannucci Uzielli, Maria Luisa; Graham, John M; Hall, Judith G; Hecht, Jacqueline T; Heidenreich, Randall A; Hurst, Jane A; Irani, Sarosh; Krapels, Ingrid P C; Leroy, Jules G; Mowat, David; Plant, Gordon T; Robertson, Stephen P; Schorry, Elizabeth K; Scott, Richard H; Seaver, Laurie H; Sherr, Elliott; Splitt, Miranda; Stewart, Helen; Stumpel, Constance; Temel, Sehime G; Weaver, David D; Whiteford, Margo; Williams, Marc S; Tabor, Holly K; Smith, Joshua D; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J.

Am J Hum Genet ; 94(5): 734-44, 2014 May 01.

Article in English | MEDLINE | ID: mdl-24726473

13.

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

Trump, Natalie; McTague, Amy; Brittain, Helen; Papandreou, Apostolos; Meyer, Esther; Ngoh, Adeline; Palmer, Rodger; Morrogh, Deborah; Boustred, Christopher; Hurst, Jane A; Jenkins, Lucy; Kurian, Manju A; Scott, Richard H.

J Med Genet ; 53(5): 310-7, 2016 05.

Article in English | MEDLINE | ID: mdl-26993267

14.

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.

Papandreou, Apostolos; McTague, Amy; Trump, Natalie; Ambegaonkar, Gautam; Ngoh, Adeline; Meyer, Esther; Scott, Richard H; Kurian, Manju A.

Dev Med Child Neurol ; 58(4): 416-20, 2016 Apr.

Article in English | MEDLINE | ID: mdl-26645412

15.

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Köhler, Sebastian; Doelken, Sandra C; Mungall, Christopher J; Bauer, Sebastian; Firth, Helen V; Bailleul-Forestier, Isabelle; Black, Graeme C M; Brown, Danielle L; Brudno, Michael; Campbell, Jennifer; FitzPatrick, David R; Eppig, Janan T; Jackson, Andrew P; Freson, Kathleen; Girdea, Marta; Helbig, Ingo; Hurst, Jane A; Jähn, Johanna; Jackson, Laird G; Kelly, Anne M; Ledbetter, David H; Mansour, Sahar; Martin, Christa L; Moss, Celia; Mumford, Andrew; Ouwehand, Willem H; Park, Soo-Mi; Riggs, Erin Rooney; Scott, Richard H; Sisodiya, Sanjay; Van Vooren, Steven; Wapner, Ronald J; Wilkie, Andrew O M; Wright, Caroline F; Vulto-van Silfhout, Anneke T; de Leeuw, Nicole; de Vries, Bert B A; Washingthon, Nicole L; Smith, Cynthia L; Westerfield, Monte; Schofield, Paul; Ruef, Barbara J; Gkoutos, Georgios V; Haendel, Melissa; Smedley, Damian; Lewis, Suzanna E; Robinson, Peter N.

Nucleic Acids Res ; 42(Database issue): D966-74, 2014 Jan.

Article in English | MEDLINE | ID: mdl-24217912

16.

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

Gil-Rodríguez, María Concepción; Deardorff, Matthew A; Ansari, Morad; Tan, Christopher A; Parenti, Ilaria; Baquero-Montoya, Carolina; Ousager, Lilian B; Puisac, Beatriz; Hernández-Marcos, María; Teresa-Rodrigo, María Esperanza; Marcos-Alcalde, Iñigo; Wesselink, Jan-Jaap; Lusa-Bernal, Silvia; Bijlsma, Emilia K; Braunholz, Diana; Bueno-Martinez, Inés; Clark, Dinah; Cooper, Nicola S; Curry, Cynthia J; Fisher, Richard; Fryer, Alan; Ganesh, Jaya; Gervasini, Cristina; Gillessen-Kaesbach, Gabriele; Guo, Yiran; Hakonarson, Hakon; Hopkin, Robert J; Kaur, Maninder; Keating, Brendan J; Kibaek, María; Kinning, Esther; Kleefstra, Tjitske; Kline, Antonie D; Kuchinskaya, Ekaterina; Larizza, Lidia; Li, Yun R; Liu, Xuanzhu; Mariani, Milena; Picker, Jonathan D; Pié, Ángeles; Pozojevic, Jelena; Queralt, Ethel; Richer, Julie; Roeder, Elizabeth; Sinha, Anubha; Scott, Richard H; So, Joyce; Wusik, Katherine A; Wilson, Louise; Zhang, Jianguo.

Hum Mutat ; 36(4): 454-62, 2015 Apr.

Article in English | MEDLINE | ID: mdl-25655089

17.

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

Bernier, Francois P; Caluseriu, Oana; Ng, Sarah; Schwartzentruber, Jeremy; Buckingham, Kati J; Innes, A Micheil; Jabs, Ethylin Wang; Innis, Jeffrey W; Schuette, Jane L; Gorski, Jerome L; Byers, Peter H; Andelfinger, Gregor; Siu, Victoria; Lauzon, Julie; Fernandez, Bridget A; McMillin, Margaret; Scott, Richard H; Racher, Hilary; Majewski, Jacek; Nickerson, Deborah A; Shendure, Jay; Bamshad, Michael J; Parboosingh, Jillian S.

Am J Hum Genet ; 90(5): 925-33, 2012 May 04.

Article in English | MEDLINE | ID: mdl-22541558

18.

Genomic medicine: time for health-care transformation.

Scott, Richard H; Fowler, Tom A; Caulfield, Mark.

Lancet ; 394(10197): 454-456, 2019 Aug 10.

Article in English | MEDLINE | ID: mdl-31395438

19.

Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

McMahon, Kelly Q; Papandreou, Apostolos; Ma, Mandy; Barry, Brenda J; Mirzaa, Ghayda M; Dobyns, William B; Scott, Richard H; Trump, Natalie; Kurian, Manju A; Paciorkowski, Alex R.

Am J Med Genet A ; 167A(12): 3096-102, 2015 Dec.

Article in English | MEDLINE | ID: mdl-26364767

20.

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.

Drury, Suzanne; Williams, Hywel; Trump, Natalie; Boustred, Christopher; Lench, Nicholas; Scott, Richard H; Chitty, Lyn S.

Prenat Diagn ; 35(10): 1010-7, 2015 Oct.

Article in English | MEDLINE | ID: mdl-26275891

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