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: COL9A3: 1427C>T; Pro476Leu

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: COL9A3: 1427C>T; P476L

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Eisenberger, Tobias T; Di Donato, Nataliya N; Decker, Christian C; Delle Vedove, Andrea A; Neuhaus, Christine C; Nürnberg, Gudrun G; Toliat, Mohammad M; Nürnberg, Peter P; Mürbe, Dirk D; Bolz, Hanno Jörn HJ

Publication Date: 2018-06

Variant appearance in text: rs142066316

PubMed Link: 29309402

Variant Present in the following documents:

• gim2017155a.pdf

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