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: GJB1: 259C>G; Pro87Ala

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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What's the Function of Connexin 32 in the Peripheral Nervous System?

Frontiers In Molecular Neuroscience

Bortolozzi, Mario M

Publication Date: 2018

Variant appearance in text: GJB1: P87A

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

View BVdb publication page

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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: GJB1: P87A

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: GJB1: P87A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Drew, Alexander P AP; Zhu, Danqing D; Kidambi, Aditi A; Ly, Carolyn C; Tey, Shelisa S; Brewer, Megan H MH; Ahmad-Annuar, Azlina A; Nicholson, Garth A GA; Kennerson, Marina L ML

Publication Date: 2015-03

Variant appearance in text: GJB1: 259C>G

PubMed Link: 25802885

Variant Present in the following documents:

• Main text

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A fully atomistic model of the Cx32 connexon.

Plos One

Pantano, Sergio S; Zonta, Francesco F; Mammano, Fabio F

Publication Date: 2008-07-02

Variant appearance in text: CMTX: P87A

PubMed Link: 18648547

Variant Present in the following documents:

• Main text

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A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.

Molecular Vision

Guleria, Kamlesh K; Vanita, Vanita V; Singh, Daljit D; Singh, Jai Rup JR

Publication Date: 2007-06-04

Variant appearance in text: GJB1: P87A

PubMed Link: 17615540

Variant Present in the following documents:

• Main text
• mv-v13-797.pdf

View BVdb publication page

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