Publications:

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: FDXR: 1156C>T; Arg386Trp

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.

Genome Medicine

Dharmadhikari, Avinash V AV; Ghosh, Rajarshi R; Yuan, Bo B; Liu, Pengfei P; Dai, Hongzheng H; Al Masri, Sami S; Scull, Jennifer J; Posey, Jennifer E JE; Jiang, Allen H AH; He, Weimin W; Vetrini, Francesco F; Braxton, Alicia A AA; Ward, Patricia P; Chiang, Theodore T; Qu, Chunjing C; Gu, Shen S; Shaw, Chad A CA; Smith, Janice L JL; Lalani, Seema S; Stankiewicz, Pawel P; Cheung, Sau-Wai SW; Bacino, Carlos A CA; Patel, Ankita A; Breman, Amy M AM; Wang, Xia X; Meng, Linyan L; Xiao, Rui R; Xia, Fan F; Muzny, Donna D; Gibbs, Richard A RA; Beaudet, Arthur L AL; Eng, Christine M CM; Lupski, James R JR; Yang, Yaping Y; Bi, Weimin W

Publication Date: 2019-05-17

Variant appearance in text: FDXR: 1156C>T; R386W

PubMed Link: 31101064

Variant Present in the following documents:

• 13073_2019_Article_639.pdf

View BVdb publication page