Publications:

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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: MYH7: 4987G>C; Ala1663Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Disease mutations in striated muscle myosins.

Biophysical Reviews

Parker, Francine F; Peckham, Michelle M

Publication Date: 2020-08

Variant appearance in text: MYH7: Ala1663Pro

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

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A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family.

Chinese Medical Journal

Liu, Xiang-Yi XY; Zhang, Ying-Shuang YS; Sun, A-Ping AP; Zhong, Yan-Feng YF; Zheng, Dan-Feng DF; Fan, Dong-Sheng DS

Publication Date: 2019-04-05

Variant appearance in text: MYH7: Ala1663Pro

PubMed Link: 30897599

Variant Present in the following documents:

• Main text
• cm9-132-856.pdf

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: MYH7: A1663P

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: CMH1: A1663P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MYH7: A1663P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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The sarcomeric M-region: a molecular command center for diverse cellular processes.

Biomed Research International

Hu, Li-Yen R LY; Ackermann, Maegen A MA; Kontrogianni-Konstantopoulos, Aikaterini A

Publication Date: 2015

Variant appearance in text: MPD1: A1663P

PubMed Link: 25961035

Variant Present in the following documents:

• Main text
• BMRI2015-714197.pdf

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Myosinopathies: pathology and mechanisms.

Acta Neuropathologica

Tajsharghi, Homa H; Oldfors, Anders A

Publication Date: 2013-01

Variant appearance in text: MYH7: A1663P

PubMed Link: 22918376

Variant Present in the following documents:

• Main text
• 401_2012_Article_1024.pdf

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Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutations.

Trends In Cardiovascular Medicine

Buvoli, Massimo M; Hamady, Micah M; Leinwand, Leslie A LA; Knight, Rob R

Publication Date: 2008-05

Variant appearance in text: MYH7: A1663P

PubMed Link: 18555187

Variant Present in the following documents:

• Main text

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Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

American Journal Of Human Genetics

Meredith, Christopher C; Herrmann, Ralf R; Parry, Cheryl C; Liyanage, Khema K; Dye, Danielle E DE; Durling, Hayley J HJ; Duff, Rachael M RM; Beckman, Kaye K; de Visser, Marianne M; van der Graaff, Maaike M MM; Hedera, Peter P; Fink, John K JK; Petty, Elizabeth M EM; Lamont, Phillipa P; Fabian, Vicki V; Bridges, Leslie L; Voit, Thomas T; Mastaglia, Frank L FL; Laing, Nigel G NG

Publication Date: 2004-10

Variant appearance in text: MYH7: Ala1663Pro

PubMed Link: 15322983

Variant Present in the following documents:

• Main text

View BVdb publication page

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