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: 4315G>C; Ala1439Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Orphanet Journal Of Rare Diseases

Fiorillo, C C; Astrea, G G; Savarese, M M; Cassandrini, D D; Brisca, G G; Trucco, F F; Pedemonte, M M; Trovato, R R; Ruggiero, L L; Vercelli, L L; D'Amico, A A; Tasca, G G; Pane, M M; Fanin, M M; Bello, L L; Broda, P P; Musumeci, O O; Rodolico, C C; Messina, S S; Vita, G L GL; Sframeli, M M; Gibertini, S S; Morandi, L L; Mora, M M; Maggi, L L; Petrucci, A A; Massa, R R; Grandis, M M; Toscano, A A; Pegoraro, E E; Mercuri, E E; Bertini, E E; Mongini, T T; Santoro, L L; Nigro, V V; Minetti, C C; Santorelli, F M FM; Bruno, C C; ,

Publication Date: 2016-07-07

Variant appearance in text: MYH7: Ala1439Pro

PubMed Link: 27387980

Variant Present in the following documents:

• Main text

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: A1439P

PubMed Link: 27081534

Variant Present in the following documents:

• Main text
• hgv201522.pdf

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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: A1439P

PubMed Link: 25961035

Variant Present in the following documents:

• Main text

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MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Acta Neuropathologica Communications

Savarese, Marco M; Di Fruscio, Giuseppina G; Mutarelli, Margherita M; Torella, Annalaura A; Magri, Francesca F; Santorelli, Filippo Maria FM; Comi, Giacomo Pietro GP; Bruno, Claudio C; Nigro, Vincenzo V

Publication Date: 2014-09-11

Variant appearance in text: MYH7: A1439P

PubMed Link: 25214167

Variant Present in the following documents:

• Main text
• 40478_2014_Article_9100.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: MYH7: Ala1439Pro

PubMed Link: 24664454

Variant Present in the following documents:

• Main text

View BVdb publication page

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