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: 93+1G>C

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.

Plos One

Babić Božović, Ivana I; Maver, Aleš A; Leonardis, Lea L; Meznaric, Marija M; Osredkar, Damjan D; Peterlin, Borut B

Publication Date: 2021

Variant appearance in text: DMD: 93+1G>C

PubMed Link: 34106991

Variant Present in the following documents:

• Main text
• pone.0252953.pdf

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Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

American Journal Of Human Genetics

Gonorazky, Hernan D HD; Naumenko, Sergey S; Ramani, Arun K AK; Nelakuditi, Viswateja V; Mashouri, Pouria P; Wang, Peiqui P; Kao, Dennis D; Ohri, Krish K; Viththiyapaskaran, Senthuri S; Tarnopolsky, Mark A MA; Mathews, Katherine D KD; Moore, Steven A SA; Osorio, Andres N AN; Villanova, David D; Kemaladewi, Dwi U DU; Cohn, Ronald D RD; Brudno, Michael M; Dowling, James J JJ

Publication Date: 2019-03-07

Variant appearance in text: DMD: 93+1G>C

PubMed Link: 30827497

Variant Present in the following documents:

• Main text
• mmc2.xlsx, sheet 3

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