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: MYH2: 5609T>C; Leu1870Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.

Bmc Neurology

Hedberg-Oldfors, Carola C; Elíasdóttir, Ólöf Ó; Geijer, Mats M; Lindberg, Christopher C; Oldfors, Anders A

Publication Date: 2022-11-15

Variant appearance in text: MYH2: L1870P

PubMed Link: 36380287

Variant Present in the following documents:

• Main text
• 12883_2022_Article_2935.pdf

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Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype.

Acta Neuropathologica Communications

Madigan, Nicolas N NN; Polzin, Michael J MJ; Cui, Gaofeng G; Liewluck, Teerin T; Alsharabati, Mohammad H MH; Klein, Christopher J CJ; Windebank, Anthony J AJ; Mer, Georges G; Milone, Margherita M

Publication Date: 2021-04-29

Variant appearance in text: MYH2: 5609T>C; Leu1870Pro

PubMed Link: 33926564

Variant Present in the following documents:

• Main text

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: MYH2: 5609T>C; Leu1870Pro

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: MYH2: Leu1870Pro

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

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Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.

Molecular Genetics And Metabolism Reports

Puusepp, Sanna S; Reinson, Karit K; Pajusalu, Sander S; Murumets, Ülle Ü; Õiglane-Shlik, Eve E; Rein, Reet R; Talvik, Inga I; Rodenburg, Richard J RJ; Õunap, Katrin K

Publication Date: 2018-06

Variant appearance in text: MYH2: Leu1870Pro

PubMed Link: 30009132

Variant Present in the following documents:

• Main text
• main.pdf

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A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies.

Neuromuscular Disorders : Nmd

D'Amico, A A; Fattori, F F; Bellacchio, E E; Catteruccia, M M; Servidei, S S; Bertini, E E

Publication Date: 2013-05

Variant appearance in text: MYH2: L1870P

PubMed Link: 23489661

Variant Present in the following documents:

• Main text

View BVdb publication page

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