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: 11515C>T; Gln3839Ter

PubMed Link: 36823319

Variant Present in the following documents:

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

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Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia

Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ

Publication Date: 2020-05

Variant appearance in text: KMT2D: Q3839X

PubMed Link: 31844144

Variant Present in the following documents:

• 41375_2019_691_MOESM7_ESM.xlsx, sheet 2

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Kabuki syndrome: clinical and molecular characteristics.

Korean Journal Of Pediatrics

Cheon, Chong-Kun CK; Ko, Jung Min JM

Publication Date: 2015-09

Variant appearance in text: KMT2D: 11515C>T; Q3839*

PubMed Link: 26512256

Variant Present in the following documents:

• Main text

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The strong association of left-side heart anomalies with Kabuki syndrome.

Korean Journal Of Pediatrics

Yoon, Ja Kyoung JK; Ahn, Kyung Jin KJ; Kwon, Bo Sang BS; Kim, Gi Beom GB; Bae, Eun Jung EJ; Noh, Chung Il CI; Ko, Jung Min JM

Publication Date: 2015-07

Variant appearance in text: KMT2D: Q3839*

PubMed Link: 26300940

Variant Present in the following documents:

• kjped-58-256.pdf

View BVdb publication page