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: DMD: 214C>T

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: DMD: H72Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes.

Nucleus (Austin, Tex.)

Bernasconi, Pia P; Carboni, Nicola N; Ricci, Giulia G; Siciliano, Gabriele G; Politano, Luisa L; Maggi, Lorenzo L; Mongini, Tiziana T; Vercelli, Liliana L; Rodolico, Carmelo C; Biagini, Elena E; Boriani, Giuseppe G; Ruggiero, Lucia L; Santoro, Lucio L; Schena, Elisa E; Prencipe, Sabino S; Evangelisti, Camilla C; Pegoraro, Elena E; Morandi, Lucia L; Columbaro, Marta M; Lanzuolo, Chiara C; Sabatelli, Patrizia P; Cavalcante, Paola P; Cappelletti, Cristina C; Bonne, Gisèle G; Muchir, Antoine A; Lattanzi, Giovanna G

Publication Date: 2018-01-01

Variant appearance in text: DMD: 214C>T

PubMed Link: 29693488

Variant Present in the following documents:

• Main text
• kncl-09-01-1467722.pdf

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