Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Functional & Integrative Genomics
Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK
Publication Date: 2023-03-27
Variant appearance in text: FBN1: 3509G>A; rs137854475
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
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
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: 3509G>A; Arg1170His; rs137854475
FBN1 Coding Variants and Nonsyndromic Aortic Disease.
Circulation. Genomic And Precision Medicine
Damrauer, Scott M SM; Hardie, Kara K; Kember, Rachel L RL; Judy, Renae R; Birtwell, David D; Williams, Heather H; Rader, Daniel J DJ; Pyeritz, Reed E RE
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: FBN1: R1170H; rs137854475
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Npj Genomic Medicine
Stavropoulos, Dimitri J DJ; Merico, Daniele D; Jobling, Rebekah R; Bowdin, Sarah S; Monfared, Nasim N; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Pellecchia, Giovanna G; Yuen, Ryan K C RKC; Szego, Michael J MJ; Hayeems, Robin Z RZ; Shaul, Randi Zlotnik RZ; Brudno, Michael M; Girdea, Marta M; Frey, Brendan B; Alipanahi, Babak B; Ahmed, Sohnee S; Babul-Hirji, Riyana R; Porras, Ramses Badilla RB; Carter, Melissa T MT; Chad, Lauren L; Chaudhry, Ayeshah A; Chitayat, David D; Doust, Soghra Jougheh SJ; Cytrynbaum, Cheryl C; Dupuis, Lucie L; Ejaz, Resham R; Fishman, Leona L; Guerin, Andrea A; Hashemi, Bita B; Helal, Mayada M; Hewson, Stacy S; Inbar-Feigenberg, Michal M; Kannu, Peter P; Karp, Natalya N; Kim, Raymond R; Kronick, Jonathan J; Liston, Eriskay E; MacDonald, Heather H; Mercimek-Mahmutoglu, Saadet S; Mendoza-Londono, Roberto R; Nasr, Enas E; Nimmo, Graeme G; Parkinson, Nicole N; Quercia, Nada N; Raiman, Julian J; Roifman, Maian M; Schulze, Andreas A; Shugar, Andrea A; Shuman, Cheryl C; Sinajon, Pierre P; Siriwardena, Komudi K; Weksberg, Rosanna R; Yoon, Grace G; Carew, Chris C; Erickson, Raith R; Leach, Richard A RA; Klein, Robert R; Ray, Peter N PN; Meyn, M Stephen MS; Scherer, Stephen W SW; Cohn, Ronald D RD; Marshall, Christian R CR
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Baldridge, Dustin D; Heeley, Jennifer J; Vineyard, Marisa M; Manwaring, Linda L; Toler, Tomi L TL; Fassi, Emily E; Fiala, Elise E; Brown, Sarah S; Goss, Charles W CW; Willing, Marcia M; Grange, Dorothy K DK; Kozel, Beth A BA; Shinawi, Marwan M
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Plos One
Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ
Publication Date: 2015
Variant appearance in text: FBN1: 3509G>A; Arg1170His; rs137854475
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
PATH-SCAN: a reporting tool for identifying clinically actionable variants.
Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
Daneshjou, Roxana R; Zappala, Zachary Z; Kukurba, Kim K; Boyle, Sean M SM; Ormond, Kelly E KE; Klein, Teri E TE; Snyder, Michael M; Bustamante, Carlos D CD; Altman, Russ B RB; Montgomery, Stephen B SB
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03
Variant appearance in text: FBN1: 3509G>A; R1170H; rs137854475