Rare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction.
Genes
Sumalde, Angelo Augusto M AAM; Scholes, Melissa A MA; Kalmanson, Olivia A OA; Terhune, Elizabeth A EA; Frejo, Lidia L; Wethey, Cambria I CI; Roman-Naranjo, Pablo P; Carry, Patrick M PM; Gubbels, Samuel P SP; Lopez-Escamez, Jose A JA; Hadley-Miller, Nancy N; Santos-Cortez, Regie Lyn P RLP
Publication Date: 2023-03-30
Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
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: 7754T>C; Ile2585Thr
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Meester, Josephina A N JAN; Peeters, Silke S; Van Den Heuvel, Lotte L; Vandeweyer, Geert G; Fransen, Erik E; Cappella, Elizabeth E; Dietz, Harry C HC; Forbus, Geoffrey G; Gelb, Bruce D BD; Goldmuntz, Elizabeth E; Hoskoppal, Arvind A; Landstrom, Andrew P AP; Lee, Teresa T; Mital, Seema S; Morris, Shaine S; Olson, Aaron K AK; Renard, Marjolijn M; Roden, Dan M DM; Singh, Michael N MN; Selamet Tierney, Elif Seda ES; Tretter, Justin T JT; Van Driest, Sara L SL; Willing, Marcia M; Verstraeten, Aline A; Van Laer, Lut L; Lacro, Ronald V RV; Loeys, Bart L BL
Publication Date: 2022-05
Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
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
Analysis of the contribution of 129 candidate genes to thoracic aortic aneurysm or dissection of a mixed cohort of sporadic and familial cases in South China.
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wenger, Brittany M BM; Patel, Nihir N; Lui, Madeline M; Moscati, Arden A; Do, Ron R; Stewart, Douglas R DR; Tartaglia, Marco M; Muiño-Mosquera, Laura L; De Backer, Julie J; Kontorovich, Amy R AR; Gelb, Bruce D BD
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Daich Varela, Malena M; Jani, Priyam P; Zein, Wadih M WM; D'Souza, Precilla P; Wolfe, Lynne L; Chisholm, Jennifer J; Zalewski, Christopher C; Adams, David D; Warner, Blake M BM; Huryn, Laryssa A LA; Hufnagel, Robert B RB
Publication Date: 2020-09
Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
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: 7754T>C; Ile2585Thr; rs727503054
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
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
The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.
Orphanet Journal Of Rare Diseases
Becerra-Muñoz, Víctor Manuel VM; Gómez-Doblas, Juan José JJ; Porras-Martín, Carlos C; Such-Martínez, Miguel M; Crespo-Leiro, María Generosa MG; Barriales-Villa, Roberto R; de Teresa-Galván, Eduardo E; Jiménez-Navarro, Manuel M; Cabrera-Bueno, Fernando F
Publication Date: 2018-01-22
Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.
Scientific Reports
Fang, Miaoxian M; Yu, Changjiang C; Chen, Siyao S; Xiong, Weiping W; Li, Xin X; Zeng, Rong R; Zhuang, Jian J; Fan, Ruixin R
Publication Date: 2017-08-30
Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.
Journal Of Translational Medicine
Poninska, J K JK; Bilinska, Z T ZT; Franaszczyk, M M; Michalak, E E; Rydzanicz, M M; Szpakowski, E E; Pollak, A A; Milanowska, B B; Truszkowska, G G; Chmielewski, P P; Sioma, A A; Janaszek-Sitkowska, H H; Klisiewicz, A A; Michalowska, I I; Makowiecka-Ciesla, M M; Kolsut, P P; Stawinski, P P; Foss-Nieradko, B B; Szperl, M M; Grzybowski, J J; Hoffman, P P; Januszewicz, A A; Kusmierczyk, M M; Ploski, R R
Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.
The Journal Of Bone And Joint Surgery. American Volume
Haller, Gabe G; Alvarado, David M DM; Willing, Marcia C MC; Braverman, Alan C AC; Bridwell, Keith H KH; Kelly, Michael M; Lenke, Lawrence G LG; Luhmann, Scott J SJ; Gurnett, Christina A CA; Dobbs, Matthew B MB
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.
Human Molecular Genetics
Buchan, Jillian G JG; Alvarado, David M DM; Haller, Gabe E GE; Cruchaga, Carlos C; Harms, Matthew B MB; Zhang, Tianxiao T; Willing, Marcia C MC; Grange, Dorothy K DK; Braverman, Alan C AC; Miller, Nancy H NH; Morcuende, Jose A JA; Tang, Nelson Leung-Sang NL; Lam, Tsz-Ping TP; Ng, Bobby Kin-Wah BK; Cheng, Jack Chun-Yiu JC; Dobbs, Matthew B MB; Gurnett, Christina A CA