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: KMT2D: 7198C>G; Pro2400Ala

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KMT2D: 7198C>G; Pro2400Ala

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4

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Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.

The Journal Of Biological Chemistry

Mitchell, Conor W CW; Czajewski, Ignacy I; van Aalten, Daan M F DMF

Publication Date: 2022-09

Variant appearance in text: KMT2D: P2400A

PubMed Link: 35863433

Variant Present in the following documents:

• mmc4.xlsx, sheet 1
• mmc4.xlsx, sheet 4

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: KMT2D: 7198C>G; Pro2400Ala; rs35111108

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 10

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Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.

American Journal Of Medical Genetics. Part A

Clarke, Christine M CM; Fok, Vincent T VT; Gustafson, Jennifer A JA; Smyth, Matthew D MD; Timms, Andrew E AE; Frazar, Chris D CD; Smith, Joshua D JD; Birgfeld, Craig B CB; Lee, Amy A; Ellenbogen, Richard G RG; Gruss, Joseph S JS; Hopper, Richard A RA; Cunningham, Michael L ML

Publication Date: 2018-02

Variant appearance in text: KMT2D: 7198C>G; Pro2400Ala

PubMed Link: 29168297

Variant Present in the following documents:

• Main text

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