Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: FBN1: 2953G>A; Gly985Arg
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Scientific Reports
Rowlands, Charlie C; Thomas, Huw B HB; Lord, Jenny J; Wai, Htoo A HA; Arno, Gavin G; Beaman, Glenda G; Sergouniotis, Panagiotis P; Gomes-Silva, Beatriz B; Campbell, Christopher C; Gossan, Nicole N; Hardcastle, Claire C; Webb, Kevin K; O'Callaghan, Christopher C; Hirst, Robert A RA; Ramsden, Simon S; Jones, Elizabeth E; Clayton-Smith, Jill J; Webster, Andrew R AR; , ; Douglas, Andrew G L AGL; O'Keefe, Raymond T RT; Newman, William G WG; Baralle, Diana D; Black, Graeme C M GCM; Ellingford, Jamie M JM
Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.
Orphanet Journal Of Rare Diseases
Stengl, Roland R; Bors, András A; Ágg, Bence B; Pólos, Miklós M; Matyas, Gabor G; Molnár, Mária Judit MJ; Fekete, Bálint B; Csabán, Dóra D; Andrikovics, Hajnalka H; Merkely, Béla B; Radovits, Tamás T; Szabolcs, Zoltán Z; Benke, Kálmán K
Publication Date: 2020-10-15
Variant appearance in text: FBN1: 2953G>A; Gly985Arg
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wai, Htoo A HA; Lord, Jenny J; Lyon, Matthew M; Gunning, Adam A; Kelly, Hugh H; Cibin, Penelope P; Seaby, Eleanor G EG; Spiers-Fitzgerald, Kerry K; Lye, Jed J; Ellard, Sian S; Thomas, N Simon NS; Bunyan, David J DJ; Douglas, Andrew G L AGL; Baralle, Diana D; ,
Publication Date: 2020-06
Variant appearance in text: FBN1: 2953G>A; Gly985Arg; rs794728199
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Human Mutation
Overwater, Eline E; Marsili, Luisa L; Baars, Marieke J H MJH; Baas, Annette F AF; van de Beek, Irma I; Dulfer, Eelco E; van Hagen, Johanna M JM; Hilhorst-Hofstee, Yvonne Y; Kempers, Marlies M; Krapels, Ingrid P IP; Menke, Leonie A LA; Verhagen, Judith M A JMA; Yeung, Kak K KK; Zwijnenburg, Petra J G PJG; Groenink, Maarten M; van Rijn, Peter P; Weiss, Marjan M MM; Voorhoeve, Els E; van Tintelen, J Peter JP; Houweling, Arjan C AC; Maugeri, Alessandra A
Publication Date: 2018-09
Variant appearance in text: FBN1: 2953G>A; Gly985Arg
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.
European Journal Of Human Genetics : Ejhg
Faivre, L L; Collod-Beroud, G G; Callewaert, B B; Child, A A; Binquet, C C; Gautier, E E; Loeys, B L BL; Arbustini, E E; Mayer, K K; Arslan-Kirchner, M M; Stheneur, C C; Kiotsekoglou, A A; Comeglio, P P; Marziliano, N N; Wolf, J E JE; Bouchot, O O; Khau-Van-Kien, P P; Beroud, C C; Claustres, M M; Bonithon-Kopp, C C; Robinson, P N PN; Adès, L L; De Backer, J J; Coucke, P P; Francke, U U; De Paepe, A A; Jondeau, G G; Boileau, C C
Publication Date: 2009-04
Variant appearance in text: FBN1: 2953G>A; Gly985Arg