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: G1170S

PubMed Link: 37214819

Variant Present in the following documents:

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

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: 3508G>A; Gly1170Ser

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: 3508G>A; Gly1170Ser

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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Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.

European Journal Of Human Genetics : Ejhg

Popp, Bernt B; Ekici, Arif B AB; Knaup, Karl X KX; Schneider, Karen K; Uebe, Steffen S; Park, Jonghun J; Bafna, Vineet V; Meiselbach, Heike H; Eckardt, Kai-Uwe KU; Schiffer, Mario M; Reis, André A; Kraus, Cornelia C; Wiesener, Michael M

Publication Date: 2022-12

Variant appearance in text: COL4A5: 3508G>A; Gly1170Ser

PubMed Link: 36100708

Variant Present in the following documents:

• Main text

View BVdb publication page

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Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.

Kidney Medicine

Shulman, Cole C; Liang, Emerald E; Kamura, Misato M; Udwan, Khalil K; Yao, Tony T; Cattran, Daniel D; Reich, Heather H; Hladunewich, Michelle M; Pei, York Y; Savige, Judy J; Paterson, Andrew D AD; Suico, Mary Ann MA; Kai, Hirofumi H; Barua, Moumita M

Publication Date: 2021

Variant appearance in text: COL4A5: G1170S; rs104886237

PubMed Link: 33851121

Variant Present in the following documents:

• mmc1.pdf
• mmc2.xlsx, sheet 1
• main.pdf

View BVdb publication page

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The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.

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

Schrezenmeier, Eva E; Kremerskothen, Elisa E; Halleck, Fabian F; Staeck, Oliver O; Liefeldt, Lutz L; Choi, Mira M; Schüler, Markus M; Weber, Ulrike U; Bachmann, Nadine N; Grohmann, Maik M; Wagner, Timo T; Budde, Klemens K; Bergmann, Carsten C

Publication Date: 2021-07

Variant appearance in text: COL4A5: 3508G>A; Gly1170Ser

PubMed Link: 33712733

Variant Present in the following documents:

• Main text
• 41436_2021_Article_1127.pdf

View BVdb publication page

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An overview of the multi-pronged approach in the diagnosis of Alport syndrome for 22 children in Northeast China.

Bmc Nephrology

Zhang, Li L; Sun, Bai-Chao BC; Zhao, Bing-Gang BG; Ma, Qing-Shan QS

Publication Date: 2020-07-23

Variant appearance in text: COL4A5: Gly1170Ser

PubMed Link: 32703181

Variant Present in the following documents:

• Main text
• 12882_2020_Article_1962.pdf

View BVdb publication page

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Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Yao, Tony T; Udwan, Khalil K; John, Rohan R; Rana, Akanchaya A; Haghighi, Amirreza A; Xu, Lizhen L; Hack, Saidah S; Reich, Heather N HN; Hladunewich, Michelle Adrienne MA; Cattran, Daniel C DC; Paterson, Andrew D AD; Pei, York Y; Barua, Moumita M

Publication Date: 2019-02-07

Variant appearance in text: COL4A5: 3508G>A; Gly1170Ser

PubMed Link: 30647093

Variant Present in the following documents:

• Main text

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: 3508G>A; Gly1170Ser

PubMed Link: 30577881

Variant Present in the following documents:

• Main text
• 13023_2018_Article_974.pdf

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: G1170S

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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Molecular testing for adult type Alport syndrome.

Bmc Nephrology

Pont-Kingdon, Genevieve G; Sumner, Kelli K; Gedge, Friederike F; Miller, Chris C; Denison, Joyce J; Gregory, Martin M; Lyon, Elaine E

Publication Date: 2009-11-17

Variant appearance in text: COL4A5: gly1170ser

PubMed Link: 19919694

Variant Present in the following documents:

• Main text
• 1471-2369-10-38.pdf

View BVdb publication page

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