Publications:

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: 5908_5915del; Asp1970fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4
• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KMT2D: 5908_5915delGACAGCCC; Asp1970Leufs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

Human Molecular Genetics

Van Laarhoven, Peter M PM; Neitzel, Leif R LR; Quintana, Anita M AM; Geiger, Elizabeth A EA; Zackai, Elaine H EH; Clouthier, David E DE; Artinger, Kristin B KB; Ming, Jeffrey E JE; Shaikh, Tamim H TH

Publication Date: 2015-08-01

Variant appearance in text: KMT2D: 5908_5915del; Asp1970Leufs*20

PubMed Link: 25972376

Variant Present in the following documents:

• Main text

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