Publications:

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: 533C>T; Thr178Ile

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: 533C>T; Thr178Ile

PubMed Link: 33926564

Variant Present in the following documents:

• Main text

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: MYH2: T178I

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Developmental MYH3 Myopathy Associated with Expression of Mutant Protein and Reduced Expression Levels of Embryonic MyHC.

Plos One

Pokrzywa, Malgorzata M; Norum, Michaela M; Lengqvist, Johan J; Ghobadpour, Mehrnaz M; Abdul-Hussein, Saba S; Moslemi, Ali-Reza AR; Tajsharghi, Homa H

Publication Date: 2015

Variant appearance in text: MYH2: Thr178Ile

PubMed Link: 26544689

Variant Present in the following documents:

• Main text
• pone.0142094.pdf

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Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.

European Journal Of Human Genetics : Ejhg

Tajsharghi, Homa H; Hammans, Simon S; Lindberg, Christopher C; Lossos, Alexander A; Clarke, Nigel F NF; Mazanti, Ingrid I; Waddell, Leigh B LB; Fellig, Yakov Y; Foulds, Nicola N; Katifi, Haider H; Webster, Richard R; Raheem, Olayinka O; Udd, Bjarne B; Argov, Zohar Z; Oldfors, Anders A

Publication Date: 2014-06

Variant appearance in text: MYH2: 533C>T; Thr178Ile

PubMed Link: 24193343

Variant Present in the following documents:

• Main text

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