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: APOB: 11712del; Asn3904fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Implementing genomic screening in diverse populations.

Genome Medicine

Abul-Husn, Noura S NS; Soper, Emily R ER; Braganza, Giovanna T GT; Rodriguez, Jessica E JE; Zeid, Natasha N; Cullina, Sinead S; Bobo, Dean D; Moscati, Arden A; Merkelson, Amanda A; Loos, Ruth J F RJF; Cho, Judy H JH; Belbin, Gillian M GM; Suckiel, Sabrina A SA; Kenny, Eimear E EE

Publication Date: 2021-02-05

Variant appearance in text: APOB: 11712delC; Asn3904Lysfs

PubMed Link: 33546753

Variant Present in the following documents:

• 13073_2021_832_MOESM1_ESM.pdf

View BVdb publication page

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Nature Communications

Oetjens, M T MT; Kelly, M A MA; Sturm, A C AC; Martin, C L CL; Ledbetter, D H DH

Publication Date: 2019-10-25

Variant appearance in text: APOB: 11712del

PubMed Link: 31653860

Variant Present in the following documents:

• 41467_2019_12869_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page