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: DSP: 2427T>A; Cys809Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: DSP: C809X; rs121912994

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Genetic bases of arrhythmogenic right ventricular Cardiomyopathy.

Heart International

Rampazzo, Alessandra A

Publication Date: 2006

Variant appearance in text: DSP: C809X

PubMed Link: 21977247

Variant Present in the following documents:

• Main text
• hi-2006-1-17.pdf

View BVdb publication page

Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa.

The Journal Of Investigative Dermatology

Hobbs, Ryan P RP; Han, Sandra Y SY; van der Zwaag, Paul A PA; Bolling, Marieke C MC; Jongbloed, Jan D H JD; Jonkman, Marcel F MF; Getsios, Spiro S; Paller, Amy S AS; Green, Kathleen J KJ

Publication Date: 2010-11

Variant appearance in text: DSP: C809X

PubMed Link: 20613772

Variant Present in the following documents:

• Main text

View BVdb publication page