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: OPA1: 85C>G; Pro29Ala

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

European Journal Of Human Genetics : Ejhg

Adeyemo, Adebolajo A; Faridi, Rabia R; Chattaraj, Parna P; Yousaf, Rizwan R; Tona, Risa R; Okorie, Samuel S; Bharadwaj, Thashi T; Nouel-Saied, Liz M LM; Acharya, Anushree A; Schrauwen, Isabelle I; Morell, Robert J RJ; Leal, Suzanne M SM; Friedman, Thomas B TB; Griffith, Andrew J AJ; Roux, Isabelle I

Publication Date: 2022-01

Variant appearance in text: OPA1: 85C>G; Pro29Ala; rs145565705

PubMed Link: 34837038

Variant Present in the following documents:

• 41431_2021_984_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

European Journal Of Human Genetics : Ejhg

Adeyemo, Adebolajo A; Faridi, Rabia R; Chattaraj, Parna P; Yousaf, Rizwan R; Tona, Risa R; Okorie, Samuel S; Bharadwaj, Thashi T; Nouel-Saied, Liz M LM; Acharya, Anushree A; Schrauwen, Isabelle I; Morell, Robert J RJ; Leal, Suzanne M SM; Friedman, Thomas B TB; Griffith, Andrew J AJ; Roux, Isabelle I

Publication Date: 2021-11-26

Variant appearance in text: OPA1: 85C>G; Pro29Ala; rs145565705

PubMed Link: 34837038

Variant Present in the following documents:

• 41431_2021_984_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page