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: FOXE1: 170G>A; Ser57Asn

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome?

Case Reports In Genetics

Mendieta-Zerón, Hugo H; Jiménez-Rosales, Angélica A; Pérez-Amado, Carlos Jhovani CJ; Jiménez-Morales, Silvia S

Publication Date: 2017

Variant appearance in text: FOXE1: S57N

PubMed Link: 28928994

Variant Present in the following documents:

• Main text
• CRIG2017-6390545.pdf

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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: rs28937575

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: FOXE1: S57N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.

Human Molecular Genetics

Moreno, Lina M LM; Mansilla, Maria Adela MA; Bullard, Steve A SA; Cooper, Margaret E ME; Busch, Tamara D TD; Machida, Junichiro J; Johnson, Marla K MK; Brauer, David D; Krahn, Katherine K; Daack-Hirsch, Sandy S; L'heureux, Jamie J; Valencia-Ramirez, Consuelo C; Rivera, Dora D; López, Ana Maria AM; Moreno, Manuel A MA; Hing, Anne A; Lammer, Edward J EJ; Jones, Marilyn M; Christensen, Kaare K; Lie, Rolv T RT; Jugessur, Astanand A; Wilcox, Allen J AJ; Chines, Peter P; Pugh, Elizabeth E; Doheny, Kim K; Arcos-Burgos, Mauricio M; Marazita, Mary L ML; Murray, Jeffrey C JC; Lidral, Andrew C AC

Publication Date: 2009-12-15

Variant appearance in text: FOXE1: S57N

PubMed Link: 19779022

Variant Present in the following documents:

• Main text

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