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: USH2A: 11266G>A; Gly3756Ser

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Cone Spacing Correlates With Retinal Thickness and Microperimetry in Patients With Inherited Retinal Degenerations.

Investigative Ophthalmology & Visual Science

Foote, Katharina G KG; De la Huerta, Irina I; Gustafson, Kevin K; Baldwin, Angela A; Zayit-Soudry, Shiri S; Rinella, Nicholas N; Porco, Travis C TC; Roorda, Austin A; Duncan, Jacque L JL

Publication Date: 2019-03-01

Variant appearance in text: USH2A: 11266G>A; G3756S

PubMed Link: 30924848

Variant Present in the following documents:

• Main text
• i1552-5783-60-4-1234.pdf

View BVdb publication page