Publications:

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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: ACVRL1: 150G>T; Trp50Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HHT2: W50C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ACVRL1: W50C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex.

The Journal Of Biological Chemistry

Townson, Sharon A SA; Martinez-Hackert, Erik E; Greppi, Chloe C; Lowden, Patricia P; Sako, Dianne D; Liu, June J; Ucran, Jeffrey A JA; Liharska, Katia K; Underwood, Kathryn W KW; Seehra, Jasbir J; Kumar, Ravindra R; Grinberg, Asya V AV

Publication Date: 2012-08-10

Variant appearance in text: HHT2: W50C

PubMed Link: 22718755

Variant Present in the following documents:

• Main text

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Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain.

Plos One

Scotti, Claudia C; Olivieri, Carla C; Boeri, Laura L; Canzonieri, Cecilia C; Ornati, Federica F; Buscarini, Elisabetta E; Pagella, Fabio F; Danesino, Cesare C

Publication Date: 2011

Variant appearance in text: HHT2: W50C

PubMed Link: 22028876

Variant Present in the following documents:

• Main text
• pone.0026431.pdf

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Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Journal Of Medical Genetics

Prigoda, N L NL; Savas, S S; Abdalla, S A SA; Piovesan, B B; Rushlow, D D; Vandezande, K K; Zhang, E E; Ozcelik, H H; Gallie, B L BL; Letarte, M M

Publication Date: 2006-09

Variant appearance in text: N/A

PubMed Link: 16690726

Variant Present in the following documents:

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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics

Abdalla, S A SA; Letarte, M M

Publication Date: 2006-02

Variant appearance in text:

PubMed Link: 15879500

Variant Present in the following documents:

• Main text

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