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: 15235_15238del; Asn5079fs

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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Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology

Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z

Publication Date: 2021-08

Variant appearance in text: KMT2D: 15235_15238del

PubMed Link: 33860439

Variant Present in the following documents:

• 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1

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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: 15235_15238del; Asn5079Trpfs*10

PubMed Link: 25972376

Variant Present in the following documents:

• Main text

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