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: 4395dup; Lys1466fs

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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Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.

Orphanet Journal Of Rare Diseases

Shangguan, Huakun H; Su, Chang C; Ouyang, Qian Q; Cao, Bingyan B; Wang, Jian J; Gong, Chunxiu C; Chen, Ruimin R

Publication Date: 2019-11-14

Variant appearance in text: KMT2D: 4395dupC

PubMed Link: 31727177

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1219.pdf

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Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.

Bmc Medical Genetics

Liu, Shuang S; Hong, Xiafei X; Shen, Cheng C; Shi, Quan Q; Wang, Jian J; Xiong, Feng F; Qiu, Zhengqing Z

Publication Date: 2015-04-21

Variant appearance in text: KMT2D: 4395dupC

PubMed Link: 25896430

Variant Present in the following documents:

• Main text
• 12881_2015_Article_171.pdf

View BVdb publication page