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: GJB1: 425G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

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: R142Q

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Systematic review of CMTX1 patients with episodic neurological dysfunction.

Annals Of Clinical And Translational Neurology

Tian, Dandan D; Zhao, Yating Y; Zhu, Ruixia R; Li, Qu Q; Liu, Xu X

Publication Date: 2021-01

Variant appearance in text: GJB1: Arg142Gln

PubMed Link: 33314704

Variant Present in the following documents:

• Main text
• ACN3-8-213.pdf

View BVdb publication page

---

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: R142Q

PubMed Link: 32903794

Variant Present in the following documents:

• Main text
• fneur-11-00690.pdf

View BVdb publication page

---

Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report.

Bmc Neurology

Liang, Youlong Y; Liu, Jingli J; Cheng, Daobin D; Wu, Yu Y; Mo, Liuhong L; Huang, Wen W

Publication Date: 2019-12-16

Variant appearance in text: GJB1: 425G>A

PubMed Link: 31842800

Variant Present in the following documents:

• 12883_2019_Article_1563.pdf

View BVdb publication page

---

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: R142Q

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

View BVdb publication page

---

The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits.

Frontiers In Neurology

Wen, Qingxian Q; Cao, Longqiao L; Yang, Cun C; Xie, Yanchen Y

Publication Date: 2018

Variant appearance in text: CMTX: Arg142Gln

PubMed Link: 30013503

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.

Chinese Medical Journal

Lu, Yuan-Yuan YY; Lyu, He H; Jin, Su-Qin SQ; Zuo, Yue-Huan YH; Liu, Jing J; Wang, Zhao-Xia ZX; Zhang, Wei W; Yuan, Yun Y

Publication Date: 2017-05-05

Variant appearance in text: GJB1: 425G>A; R142Q

PubMed Link: 28469099

Variant Present in the following documents:

• CMJ-130-1049.pdf

View BVdb publication page

---

Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.

Scientific Reports

Abrams, Charles K CK; Goman, Mikhail M; Wong, Sarah S; Scherer, Steven S SS; Kleopa, Kleopas A KA; Peinado, Alejandro A; Freidin, Mona M MM

Publication Date: 2017-01-10

Variant appearance in text: GJB1: R142Q

PubMed Link: 28071741

Variant Present in the following documents:

• Main text
• srep40166.pdf

View BVdb publication page

---

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: R142Q

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

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: R142Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

---

Episodic neurological dysfunction in hereditary peripheral neuropathy.

Annals Of Indian Academy Of Neurology

Kulkarni, Girish Baburao GB; Mailankody, Pooja P; Isnwara, Pawanraj Palu PP; Prasad, Chandrajit C; Mustare, Veerendrakumar V

Publication Date: 2015

Variant appearance in text: GJB1: 425G>A

PubMed Link: 25745327

Variant Present in the following documents:

• Main text
• AIAN-18-111.pdf

View BVdb publication page

---

Hand weakness in Charcot-Marie-Tooth disease 1X.

Neuromuscular Disorders : Nmd

Arthur-Farraj, P J PJ; Murphy, S M SM; Laura, M M; Lunn, M P MP; Manji, H H; Blake, J J; Ramdharry, G G; Fox, Z Z; Reilly, M M MM

Publication Date: 2012-07

Variant appearance in text: GJB1: Arg142Gln

PubMed Link: 22464564

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Gap junctions in inherited human disorders of the central nervous system.

Biochimica Et Biophysica Acta

Abrams, Charles K CK; Scherer, Steven S SS

Publication Date: 2012-08

Variant appearance in text: GJB1: R142Q

PubMed Link: 21871435

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

European Journal Of Human Genetics : Ejhg

Miltenberger-Miltenyi, Gabriel G; Schwarzbraun, Thomas T; Löscher, Wolfgang N WN; Wanschitz, Julia J; Windpassinger, Christian C; Duba, Hans-Christoph HC; Seidl, Rainer R; Albrecht, Gerhard G; Weirich-Schwaiger, Helga H; Zoller, Heinz H; Utermann, Gerd G; Auer-Grumbach, Michaela M; Janecke, Andreas R AR

Publication Date: 2009-09

Variant appearance in text: CMTX: R142Q

PubMed Link: 19259128

Variant Present in the following documents:

• Main text

View BVdb publication page

---