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: SAR1B: 537T>A; Ser179Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The genetics of monogenic intestinal epithelial disorders.

Human Genetics

Babcock, Stephen J SJ; Flores-Marin, David D; Thiagarajah, Jay R JR

Publication Date: 2022-11-23

Variant appearance in text: SAR1B: Ser179Arg

PubMed Link: 36422736

Variant Present in the following documents:

• Main text
• 439_2022_Article_2501.pdf

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: SAR1B: 537T>A; Ser179Arg; rs28942110

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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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: rs28942110

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: N/A

PubMed Link: 26206375

Variant Present in the following documents:

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs28942110

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research

Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC

Publication Date: 2011-11

Variant appearance in text: SARA2: 537T>A

PubMed Link: 21862702

Variant Present in the following documents:

• Main text

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Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.

Orphanet Journal Of Rare Diseases

Peretti, Noel N; Sassolas, Agnès A; Roy, Claude C CC; Deslandres, Colette C; Charcosset, Mathilde M; Castagnetti, Justine J; Pugnet-Chardon, Laurence L; Moulin, Philippe P; Labarge, Sylvie S; Bouthillier, Lise L; Lachaux, Alain A; Levy, Emile E; , ; ,

Publication Date: 2010-09-29

Variant appearance in text: SAR1B: 537T>A

PubMed Link: 20920215

Variant Present in the following documents:

• Main text
• 1750-1172-5-24.pdf

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