A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
Human Genetics
Walls, W Daniel WD; Moteki, Hideaki H; Thomas, Taylor R TR; Nishio, Shin-Ya SY; Yoshimura, Hidekane H; Iwasa, Yoichiro Y; Frees, Kathy L KL; Nishimura, Carla J CJ; Azaiez, Hela H; Booth, Kevin T KT; Marini, Robert J RJ; Kolbe, Diana L DL; Weaver, A Monique AM; Schaefer, Amanda M AM; Wang, Kai K; Braun, Terry A TA; Usami, Shin-Ichi SI; Barr-Gillespie, Peter G PG; Richardson, Guy P GP; Smith, Richard J RJ; Casavant, Thomas L TL
Publication Date: 2020-10
Variant appearance in text: COL5A1: Thr1757Met; rs2229817
Rare genetic variants in patients with cervical artery dissection.
European Stroke Journal
Traenka, Christopher C; Kloss, Manja M; Strom, Tim T; Lyrer, Philippe P; Brandt, Tobias T; Bonati, Leo H LH; Grond-Ginsbach, Caspar C; Engelter, Stefan S
Publication Date: 2019-12
Variant appearance in text: COL5A1: Thr1757Met; rs2229817
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.
Plos One
Lucas, Sionne E M SEM; Zhou, Tiger T; Blackburn, Nicholas B NB; Mills, Richard A RA; Ellis, Jonathan J; Leo, Paul P; Souzeau, Emmanuelle E; Ridge, Bronwyn B; Charlesworth, Jac C JC; Lindsay, Richard R; Craig, Jamie E JE; Burdon, Kathryn P KP
Publication Date: 2018
Variant appearance in text: COL5A1: 5270C>T; T1757M; rs2229817
Rare mutations and potentially damaging missense variants in genes encoding fibrillar collagens and proteins involved in their production are candidates for risk for preterm premature rupture of membranes.
Plos One
Modi, Bhavi P BP; Teves, Maria E ME; Pearson, Laurel N LN; Parikh, Hardik I HI; Chaemsaithong, Piya P; Sheth, Nihar U NU; York, Timothy P TP; Romero, Roberto R; Strauss, Jerome F JF
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: COL5A1: T1757M; rs2229817
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11
Variant appearance in text: COL5A1: T1757M; rs2229817