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: 43C>T; Arg15Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders.

Frontiers In Neurology

Huang, Yu Tong YT; Giacomini, Paul S PS; Massie, Rami R; Venkateswaran, Sunita S; Trudelle, Anne-Marie AM; Fadda, Giulia G; Sharifian-Dorche, Maryam M; Boudjani, Hayet H; Poliquin-Lasnier, Laurence L; Airas, Laura L; Saveriano, Alexander W AW; Ziller, Matthias Georg MG; Miller, Elka E; Martinez-Rios, Claudia C; Wilson, Nagwa N; Davila, Jorge J; Rush, Carolina C; Longbrake, Erin E EE; Longoni, Giulia G; Macaron, Gabrielle G; Bernard, Geneviève G; Tampieri, Donatella D; Antel, Jack J; Brais, Bernard B; La Piana, Roberta R

Publication Date: 2022

Variant appearance in text: GJB1: Arg15Trp

PubMed Link: 35959404

Variant Present in the following documents:

• Main text
• fneur-13-928493.pdf

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Genotype-phenotype characteristics of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease.

Brain And Behavior

Nguyen-Le, Trung-Hieu TH; Do, Minh Duc MD; Le, Linh Hoang Gia LHG; Nhat, Quynh Nhu Nguyen QNN; Hoang, Nghia Trong Tien NTT; Van Le, Tuan T; Mai, Thao Phuong TP

Publication Date: 2022-09

Variant appearance in text: GJB1: R15W; rs116840815

PubMed Link: 35938991

Variant Present in the following documents:

• Main text
• BRB3-12-e2744.pdf

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New evidence for secondary axonal degeneration in demyelinating neuropathies.

Neuroscience Letters

Moss, Kathryn R KR; Bopp, Taylor S TS; Johnson, Anna E AE; Höke, Ahmet A

Publication Date: 2021-01-23

Variant appearance in text: GJB1: R15W

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.

Frontiers In Neurology

Liu, Xiaoxuan X; Duan, Xiaohui X; Zhang, Yingshuang Y; Sun, Aping A; Fan, Dongsheng D

Publication Date: 2020

Variant appearance in text: CMTX1: R15W

PubMed Link: 32903794

Variant Present in the following documents:

• Main text
• fneur-11-00690.pdf

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: GJB1: 43C>T; Arg15Trp

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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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: R15W

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: GJB1: 43C>T; Arg15Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: GJB1: 43C>T; Arg15Trp

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

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Connexinopathies: a structural and functional glimpse.

Bmc Cell Biology

García, Isaac E IE; Prado, Pavel P; Pupo, Amaury A; Jara, Oscar O; Rojas-Gómez, Diana D; Mujica, Paula P; Flores-Muñoz, Carolina C; González-Casanova, Jorge J; Soto-Riveros, Carolina C; Pinto, Bernardo I BI; Retamal, Mauricio A MA; González, Carlos C; Martínez, Agustín D AD

Publication Date: 2016-05-24

Variant appearance in text: CMTX: R15W

PubMed Link: 27228968

Variant Present in the following documents:

• Main text

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Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients.

Chinese Medical Journal

Sun, Bo B; Chen, Zhao-Hui ZH; Ling, Li L; Li, Yi-Fan YF; Liu, Li-Zhi LZ; Yang, Fei F; Huang, Xu-Sheng XS

Publication Date: 2016-05-05

Variant appearance in text: GJB1: R15W

PubMed Link: 27098783

Variant Present in the following documents:

• CMJ-129-1011.pdf

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Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.

Molecules And Cells

Nam, Soo Hyun SH; Hong, Young Bin YB; Hyun, Young Se YS; Nam, Da Eun da E; Kwak, Geon G; Hwang, Sun Hee SH; Choi, Byung-Ok BO; Chung, Ki Wha KW

Publication Date: 2016-05-31

Variant appearance in text: GJB1: 43C>T

PubMed Link: 27025386

Variant Present in the following documents:

• Main text
• molce-39-5-382.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: GJB1: R15W

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: R15W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?

Brain Research

Kleopa, Kleopas A KA; Abrams, Charles K CK; Scherer, Steven S SS

Publication Date: 2012-12-03

Variant appearance in text: GJB1: R15W

PubMed Link: 22771394

Variant Present in the following documents:

• Main text

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The role of gap junctions in Charcot-Marie-Tooth disease.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Kleopa, Kleopas A KA

Publication Date: 2011-12-07

Variant appearance in text: GJB1: R15W

PubMed Link: 22159091

Variant Present in the following documents:

• Main text

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Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families.

Investigative Ophthalmology & Visual Science

Qu, Jia J; Wang, Ying Y; Tong, Yi Y; Zhou, Xiangtian X; Zhao, Fuxin F; Yang, Li L; Zhang, Shoukang S; Zhang, Juanjuan J; West, Constance E CE; Guan, Min-Xin MX

Publication Date: 2010-10

Variant appearance in text: GJB1: R15W

PubMed Link: 20435583

Variant Present in the following documents:

• Main text

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Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Huang, Yan Y; Sirkowski, Erich E EE; Stickney, John T JT; Scherer, Steven S SS

Publication Date: 2005-08-03

Variant appearance in text: GJB1: R15W

PubMed Link: 16079393

Variant Present in the following documents:

• Main text

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Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.

Brain Research

Abrams, C K CK; Freidin, M M MM; Verselis, V K VK; Bennett, M V MV; Bargiello, T A TA

Publication Date: 2001-05-04

Variant appearance in text: CMTX: R15W

PubMed Link: 11325342

Variant Present in the following documents:

• Main text

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