Publications:

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Polygenic risk affects the penetrance of monogenic kidney disease.

Medrxiv : The Preprint Server For Health Sciences

Khan, Atlas A; Shang, Ning N; Nestor, Jordan G JG; Weng, Chunhua C; Hripcsak, George G; Harris, Peter C PC; Gharavi, Ali G AG; Kiryluk, Krzysztof K

Publication Date: 2023-05-10

Variant appearance in text: COL4A5: G1107R

PubMed Link: 37214819

Variant Present in the following documents:

• media-2.xlsx, sheet 2
• media-2.xlsx, sheet 3

View BVdb publication page

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: COL4A5: 3319G>A; Gly1107Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 3319G>A; Gly1107Arg

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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Severe restless legs syndrome in a family with Alport syndrome.

Bmc Nephrology

Sparasci, Davide D; Rossinelli, Andrea A; Ferri, Raffaele R; Cippà, Pietro P; Rinaldi, Andrea A; Manconi, Mauro M

Publication Date: 2021-07-05

Variant appearance in text: COL4A5: 3319G>A; G1107R

PubMed Link: 34225668

Variant Present in the following documents:

• Main text
• 12882_2021_Article_2455.pdf

View BVdb publication page

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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: 3319G>A; Gly1107Arg

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Non-collagen genes role in digenic Alport syndrome.

Bmc Nephrology

Daga, S S; Fallerini, C C; Furini, S S; Pecoraro, C C; Scolari, F F; Ariani, F F; Bruttini, M M; Mencarelli, M A MA; Mari, F F; Renieri, A A; Pinto, A M AM

Publication Date: 2019-02-26

Variant appearance in text: COL4A5: 3319G>A

PubMed Link: 30808327

Variant Present in the following documents:

• 12882_2019_Article_1258.pdf

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: 3319G>A; Gly1107Arg

PubMed Link: 30577881

Variant Present in the following documents:

• Main text
• 13023_2018_Article_974.pdf

View BVdb publication page

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Personalized oncogenomic analysis of metastatic adenoid cystic carcinoma: using whole-genome sequencing to inform clinical decision-making.

Cold Spring Harbor Molecular Case Studies

Chahal, Manik M; Pleasance, Erin E; Grewal, Jasleen J; Zhao, Eric E; Ng, Tony T; Chapman, Erin E; Jones, Martin R MR; Shen, Yaoqing Y; Mungall, Karen L KL; Bonakdar, Melika M; Taylor, Gregory A GA; Ma, Yussanne Y; Mungall, Andrew J AJ; Moore, Richard A RA; Lim, Howard H; Renouf, Daniel D; Yip, Stephen S; Jones, Steven J M SJM; Marra, Marco A MA; Laskin, Janessa J

Publication Date: 2018-04

Variant appearance in text: COL4A5: G1107R

PubMed Link: 29610392

Variant Present in the following documents:

• supp_mcs.a002626_Supplemental_Table_1.pdf

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: COL4A5: G1107R

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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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: COL4A5: G1107R

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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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: COL4A5: G1107R

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Massella, Laura L; Gangemi, Concetta C; Giannakakis, Kostas K; Crisafi, Antonella A; Faraggiana, Tullio T; Fallerini, Chiara C; Renieri, Alessandra A; Muda, Andrea Onetti AO; Emma, Francesco F

Publication Date: 2013-05

Variant appearance in text: COL4A5: Gly1107Arg

PubMed Link: 23371956

Variant Present in the following documents:

• Main text

View BVdb publication page

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