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: 7202G>A; Arg2401His

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: 7202G>A; Arg2401His

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4

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[Spectrum of somatic mutations and their prognostic significance in adult patients with B cell acute lymphoblastic leukemia].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Feng, J J; Gong, X Y XY; Jia, Y J YJ; Liu, K Q KQ; Li, Y Y; Dong, X B XB; Fang, Q Y QY; Ru, K K; Li, Q H QH; Wang, H J HJ; Zhao, X L XL; Jia, Y N YN; Song, Y Y; Tian, Z Z; Wang, M M; Tang, K J KJ; Wang, J X JX; Mi, Y C YC

Publication Date: 2018-02-14

Variant appearance in text: KMT2D: R2401H

PubMed Link: 29562441

Variant Present in the following documents:

• Main text
• cjh-39-02-098.pdf

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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

Nature Genetics

Wang, Xia X; Charng, Wu-Lin WL; Chen, Chun-An CA; Rosenfeld, Jill A JA; Al Shamsi, Aisha A; Al-Gazali, Lihadh L; McGuire, Marianne M; Mew, Nicholas Ah NA; Arnold, Georgianne L GL; Qu, Chunjing C; Ding, Yan Y; Muzny, Donna M DM; Gibbs, Richard A RA; Eng, Christine M CM; Walkiewicz, Magdalena M; Xia, Fan F; Plon, Sharon E SE; Lupski, James R JR; Schaaf, Christian P CP; Yang, Yaping Y

Publication Date: 2017-04

Variant appearance in text: KMT2D: 7202G>A; R2401H; rs375115132

PubMed Link: 28288113

Variant Present in the following documents:

• NIHMS853757-supplement-3.pdf

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