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: 5378T>C; Leu1793Pro

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: 5378T>C; Leu1793Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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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: Leu1793Pro

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

View BVdb publication page

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Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

Journal Of The American Heart Association

van Waning, Jaap I JI; Moesker, Joost J; Heijsman, Daphne D; Boersma, Eric E; Majoor-Krakauer, Danielle D

Publication Date: 2019-12-03

Variant appearance in text: MYH7: 5378T>C; Leu1793pro

PubMed Link: 31771441

Variant Present in the following documents:

• JAH3-8-e012993-s001.pdf
• JAH3-8-e012993.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: MYH7: 5378T>C; L1793P

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: MYH7: Leu1793Pro

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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A1603P and K1617del, Mutations in β-Cardiac Myosin Heavy Chain that Cause Laing Early-Onset Distal Myopathy, Affect Secondary Structure and Filament Formation In Vitro and In Vivo.

Journal Of Molecular Biology

Parker, Francine F; Batchelor, Matthew M; Wolny, Marcin M; Hughes, Ruth R; Knight, Peter J PJ; Peckham, Michelle M

Publication Date: 2018-05-11

Variant appearance in text: MYH7: L1793P

PubMed Link: 29660325

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.

Bmc Medical Genetics

Bánfai, Zsolt Z; Hadzsiev, Kinga K; Pál, Endre E; Komlósi, Katalin K; Melegh, Márton M; Balikó, László L; Melegh, Béla B

Publication Date: 2017-09-19

Variant appearance in text: MPD1: L1793P

PubMed Link: 28927399

Variant Present in the following documents:

• Main text
• 12881_2017_Article_463.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MYH7: 5378T>C; Leu1793Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.

Plos One

Dahl-Halvarsson, Martin M; Pokrzywa, Malgorzata M; Rauthan, Manish M; Pilon, Marc M; Tajsharghi, Homa H

Publication Date: 2017

Variant appearance in text: MYH7: L1793P

PubMed Link: 28125727

Variant Present in the following documents:

• Main text

View BVdb publication page

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Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.

Bmc Medical Genetics

Feinstein-Linial, Miora M; Buvoli, Massimo M; Buvoli, Ada A; Sadeh, Menachem M; Dabby, Ron R; Straussberg, Rachel R; Shelef, Ilan I; Dayan, Daniel D; Leinwand, Leslie Anne LA; Birk, Ohad S OS

Publication Date: 2016-08-12

Variant appearance in text: MYH7: Leu1793pro

PubMed Link: 27519903

Variant Present in the following documents:

• 12881_2016_Article_315.pdf

View BVdb publication page

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A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy.

Human Genome Variation

Oda, Tetsuya T; Xiong, Hui H; Kobayashi, Kazuhiro K; Wang, Shuo S; Satake, Wataru W; Jiao, Hui H; Yang, Yanling Y; Cha, Pei-Chieng PC; Hayashi, Yukiko K YK; Nishino, Ichizo I; Suzuki, Yutaka Y; Sugano, Sumio S; Wu, Xiru X; Toda, Tatsushi T

Publication Date: 2015

Variant appearance in text: MYH7: Leu1793Pro

PubMed Link: 27081534

Variant Present in the following documents:

• hgv201522.pdf

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Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report.

Bmc Medical Genetics

Astrea, Guja G; Petrucci, Antonio A; Cassandrini, Denise D; Savarese, Marco M; Trovato, Rosanna R; Lispi, Ludovico L; Rubegni, Anna A; Giacanelli, Manlio M; Massa, Roberto R; Nigro, Vincenzo V; Santorelli, Filippo M FM

Publication Date: 2016-03-22

Variant appearance in text: MYH7: Leu1793Pro

PubMed Link: 27005958

Variant Present in the following documents:

• 12881_2016_Article_288.pdf

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: L1793P

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: 5378T>C

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

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Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.

Journal Of Neurology, Neurosurgery, And Psychiatry

Romero, Norma B NB; Xie, Ting T; Malfatti, Edoardo E; Schaeffer, Ursula U; Böhm, Johann J; Wu, Bin B; Xu, Fengping F; Boucebci, Samy S; Mathis, Stéphane S; Neau, Jean-Philippe JP; Monnier, Nicole N; Fardeau, Michel M; Laporte, Jocelyn J

Publication Date: 2014-10

Variant appearance in text: MYH7: Leu1793pro

PubMed Link: 24828896

Variant Present in the following documents:

• jnnp-2013-306754.pdf

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Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Human Mutation

Lamont, Phillipa J PJ; Wallefeld, William W; Hilton-Jones, David D; Udd, Bjarne B; Argov, Zohar Z; Barboi, Alexandru C AC; Bonneman, Carsten C; Boycott, Kym M KM; Bushby, Kate K; Connolly, Anne M AM; Davies, Nicholas N; Beggs, Alan H AH; Cox, Gerald F GF; Dastgir, Jahannaz J; DeChene, Elizabeth T ET; Gooding, Rebecca R; Jungbluth, Heinz H; Muelas, Nuria N; Palmio, Johanna J; Penttilä, Sini S; Schmedding, Eric E; Suominen, Tiina T; Straub, Volker V; Staples, Christopher C; Van den Bergh, Peter Y K PY; Vilchez, Juan J JJ; Wagner, Kathryn R KR; Wheeler, Patricia G PG; Wraige, Elizabeth E; Laing, Nigel G NG

Publication Date: 2014-07

Variant appearance in text: MPD1: Leu1793Pro

PubMed Link: 24664454

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.

Neuromuscular Disorders : Nmd

Clarke, Nigel F NF; Amburgey, Kimberly K; Teener, James J; Camelo-Piragua, Sandra S; Kesari, Akanchha A; Punetha, Jaya J; Waddell, Leigh B LB; Davis, Mark M; Laing, Nigel G NG; Monnier, Nicole N; North, Kathryn N KN; Hoffman, Eric P EP; Dowling, James J JJ

Publication Date: 2013-05

Variant appearance in text: MYH7: Leu1793Pro

PubMed Link: 23478172

Variant Present in the following documents:

• Main text

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: L1793P

PubMed Link: 22918376

Variant Present in the following documents:

• Main text
• 401_2012_Article_1024.pdf

View BVdb publication page

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Actinopathies and myosinopathies.

Brain Pathology (Zurich, Switzerland)

Goebel, Hans H HH; Laing, Nigel G NG

Publication Date: 2009-07

Variant appearance in text: MYH7: Leu1793Pro

PubMed Link: 19563543

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Armel, Thomas Z TZ; Leinwand, Leslie A LA

Publication Date: 2009-04-14

Variant appearance in text: MYH7: L1793P

PubMed Link: 19336582

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: L1793P

PubMed Link: 18555187

Variant Present in the following documents:

• Main text

View BVdb publication page

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