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: ABCA1: 1719C>A; Tyr573Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: ABCA1: Y573X; rs137854502

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Distinct molecular profile of diffuse cerebellar gliomas.

Acta Neuropathologica

Nomura, Masashi M; Mukasa, Akitake A; Nagae, Genta G; Yamamoto, Shogo S; Tatsuno, Kenji K; Ueda, Hiroki H; Fukuda, Shiro S; Umeda, Takayoshi T; Suzuki, Tomonari T; Otani, Ryohei R; Kobayashi, Keiichi K; Maruyama, Takashi T; Tanaka, Shota S; Takayanagi, Shunsaku S; Nejo, Takahide T; Takahashi, Satoshi S; Ichimura, Koichi K; Nakamura, Taishi T; Muragaki, Yoshihiro Y; Narita, Yoshitaka Y; Nagane, Motoo M; Ueki, Keisuke K; Nishikawa, Ryo R; Shibahara, Junji J; Aburatani, Hiroyuki H; Saito, Nobuhito N

Publication Date: 2017-12

Variant appearance in text: ABCA1: Y573X

PubMed Link: 28852847

Variant Present in the following documents:

• 401_2017_1771_MOESM2_ESM.xlsx, sheet 7

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Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology

Panagiotou, Orestis A OA; Evangelou, Evangelos E; Ioannidis, John P A JP

Publication Date: 2010-10-15

Variant appearance in text: ABCA1: Tyr573Ter

PubMed Link: 20876667

Variant Present in the following documents:

• Main text

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