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: 13715A>G; Asn4572Ser

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: 13715A>G; Asn4572Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4

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Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.

European Journal Of Human Genetics : Ejhg

Sobreira, Nara N; Brucato, Martha M; Zhang, Li L; Ladd-Acosta, Christine C; Ongaco, Chrissie C; Romm, Jane J; Doheny, Kimberly F KF; Mingroni-Netto, Regina C RC; Bertola, Debora D; Kim, Chong A CA; Perez, Ana Ba AB; Melaragno, Maria I MI; Valle, David D; Meloni, Vera A VA; Bjornsson, Hans T HT

Publication Date: 2017-12

Variant appearance in text: KMT2D: 13715A>G; N4572S

PubMed Link: 29255178

Variant Present in the following documents:

• Main text

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