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: COL4A5: 1117C>T; Arg373Ter

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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Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases.

Frontiers In Genetics

Gao, Min M; Yu, Fengling F; Dong, Rui R; Zhang, Kaihui K; Lv, Yuqiang Y; Ma, Jian J; Wang, Dong D; Zhang, Hongxia H; Gai, Zhongtao Z; Liu, Yi Y

Publication Date: 2022

Variant appearance in text: COL4A5: 1117C>T; R373X

PubMed Link: 36685964

Variant Present in the following documents:

• Main text
• fgene-13-933636.pdf

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NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough.

Iscience

Omachi, Kohei K; Kai, Hirofumi H; Roberge, Michel M; Miner, Jeffrey H JH

Publication Date: 2022-03-18

Variant appearance in text: COL4A5: R373X

PubMed Link: 35243249

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

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X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases.

Frontiers In Medicine

Mastrangelo, Antonio A; Giani, Marisa M; Groppali, Elena E; Castorina, Pierangela P; Soldà, Giulia G; Robusto, Michela M; Fallerini, Chiara C; Bruttini, Mirella M; Renieri, Alessandra A; Montini, Giovanni G

Publication Date: 2020

Variant appearance in text: COL4A5: Arg373*

PubMed Link: 33330536

Variant Present in the following documents:

• fmed-07-580376.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: COL4A5: 1117C>T; Arg373Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.

Orphanet Journal Of Rare Diseases

Zhang, Xiao X; Zhang, Yanqin Y; Zhang, Yanmei Y; Gu, Hongbo H; Chen, Zhe Z; Ren, Lei L; Lu, Xingxing X; Chen, Li L; Wang, Fang F; Liu, Yuhe Y; Ding, Jie J

Publication Date: 2018-12-22

Variant appearance in text: COL4A5: 1117C>T; Arg373*

PubMed Link: 30577881

Variant Present in the following documents:

• Main text
• 13023_2018_Article_974.pdf

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Spontaneous Coronary Artery Dissection: A Rare Manifestation of Alport Syndrome.

Case Reports In Cardiology

Anuwatworn, Amornpol A; Sethi, Prince P; Steffen, Kelly K; Jonsson, Orvar O; Petrasko, Marian M

Publication Date: 2017

Variant appearance in text: COL4A5: 1117C>T

PubMed Link: 28884028

Variant Present in the following documents:

• Main text
• CRIC2017-1705927.pdf

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Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.

Plos One

Liu, Jian-Hong JH; Wei, Xiu-Xiu XX; Li, Ang A; Cui, Ying-Xia YX; Xia, Xin-Yi XY; Qin, Wei-Song WS; Zhang, Ming-Chao MC; Gao, Er-Zhi EZ; Sun, Jun J; Gao, Chun-Lin CL; Liu, Feng-Xia FX; Wu, Qiu-Yue QY; Li, Wei-Wei WW; Asan, ; Liu, Zhi-Hong ZH; Li, Xiao-Jun XJ

Publication Date: 2017

Variant appearance in text: COL4A5: 1117C>T; R373*

PubMed Link: 28542346

Variant Present in the following documents:

• Main text
• pone.0177685.pdf

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X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.

Plos One

Savige, Judith J; Storey, Helen H; Il Cheong, Hae H; Gyung Kang, Hee H; Park, Eujin E; Hilbert, Pascale P; Persikov, Anton A; Torres-Fernandez, Carmen C; Ars, Elisabet E; Torra, Roser R; Hertz, Jens Michael JM; Thomassen, Mads M; Shagam, Lev L; Wang, Dongmao D; Wang, Yanyan Y; Flinter, Frances F; Nagel, Mato M

Publication Date: 2016

Variant appearance in text: COL4A5: Arg373*

PubMed Link: 27627812

Variant Present in the following documents:

• pone.0161802.pdf

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Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Tan, Rachel R; Colville, Deb D; Wang, Yan Yan YY; Rigby, Lin L; Savige, Judy J

Publication Date: 2010-01

Variant appearance in text: COL4A5: 1117C>T; R373X

PubMed Link: 19965530

Variant Present in the following documents:

• Main text

View BVdb publication page

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