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: 12420T>G; Cys4140Trp

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.

Biomed Research International

Bernardis, Isabella I; Chiesi, Laura L; Tenedini, Elena E; Artuso, Lucia L; Percesepe, Antonio A; Artusi, Valentina V; Simone, Maria Luisa ML; Manfredini, Rossella R; Camparini, Monica M; Rinaldi, Chiara C; Ciardella, Antonio A; Graziano, Claudio C; Balducci, Nicole N; Tranchina, Antonia A; Cavallini, Gian Maria GM; Pietrangelo, Antonello A; Marigo, Valeria V; Tagliafico, Enrico E

Publication Date: 2016

Variant appearance in text: USH2A: 12420T>G; Cys4140Trp

PubMed Link: 28127548

Variant Present in the following documents:

• Main text
• BMRI2016-6341870.pdf

View BVdb publication page