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: 5117T>C; Leu1706Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: MYH7: 5117T>C; Leu1706Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 5
• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

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Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Ebiomedicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Fernandez-Falgueras, Anna A; Coll, Mónica M; Iglesias, Anna A; Ferrer-Costa, Carles C; Cesar, Sergi S; Arbelo, Elena E; García-Álvarez, Ana A; Jordà, Paloma P; Toro, Rocío R; Tiron de Llano, Coloma C; Grassi, Simone S; Oliva, Antonio A; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2020-04

Variant appearance in text: MYH7: 5117T>C; Leu1706Pro; rs797044602

PubMed Link: 32268277

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: Leu1706Pro

PubMed Link: 30897599

Variant Present in the following documents:

• Main text
• cm9-132-856.pdf

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: MYH7: L1706P

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: L1706P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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A composite approach towards a complete model of the myosin rod.

Proteins

Korkmaz, E Nihal EN; Taylor, Keenan C KC; Andreas, Michael P MP; Ajay, Guatam G; Heinze, Nathan T NT; Cui, Qiang Q; Rayment, Ivan I

Publication Date: 2016-01

Variant appearance in text: MYH7: L1706P

PubMed Link: 26573747

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: L1706P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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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: L1706P

PubMed Link: 25961035

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine

Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA

Publication Date: 2015

Variant appearance in text: MYH7: 5117T>C

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

View BVdb publication page

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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: L1706P

PubMed Link: 22918376

Variant Present in the following documents:

• Main text
• 401_2012_Article_1024.pdf

View BVdb publication page

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Effects of pathogenic proline mutations on myosin assembly.

Journal Of Molecular Biology

Buvoli, Massimo M; Buvoli, Ada A; Leinwand, Leslie A LA

Publication Date: 2012-02-03

Variant appearance in text: MPD1: L1706P

PubMed Link: 22155079

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: L1706P

PubMed Link: 18555187

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Leu1706Pro

PubMed Link: 15322983

Variant Present in the following documents:

• Main text

View BVdb publication page

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