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: G869R

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: 2605G>A; Gly869Arg

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: 2605G>A; Gly869Arg

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: 2605G>A; G869R

PubMed Link: 36685964

Variant Present in the following documents:

• Main text
• fgene-13-933636.pdf

View BVdb publication page

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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: G869R

PubMed Link: 35243249

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

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: G869R; rs104886189

PubMed Link: 33851121

Variant Present in the following documents:

• mmc2.xlsx, sheet 1
• main.pdf
• mmc3.xlsx, sheet 1
• mmc1.pdf

View BVdb publication page

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An Alport syndrome boy with Van Wyk-Grumbach syndrome induced by prolonged untreated congenital hypothyroidism.

Annals Of Pediatric Endocrinology & Metabolism

Lee, Su-Jeong SJ; Moon, Jung-Eun JE; Lee, Gi-Min GM; Cho, Min-Hyun MH; Ko, Cheol Woo CW

Publication Date: 2020-06

Variant appearance in text: COL4A5: Gly869Arg

PubMed Link: 32615694

Variant Present in the following documents:

• Main text
• apem-1938074-037.pdf

View BVdb publication page

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Trimerization and Genotype-Phenotype Correlation of COL4A5 Mutants in Alport Syndrome.

Kidney International Reports

Kamura, Misato M; Yamamura, Tomohiko T; Omachi, Kohei K; Suico, Mary Ann MA; Nozu, Kandai K; Kaseda, Shota S; Kuwazuru, Jun J; Shuto, Tsuyoshi T; Iijima, Kazumoto K; Kai, Hirofumi H

Publication Date: 2020-05

Variant appearance in text: COL4A5: 2605G>A; G869R

PubMed Link: 32405592

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

View BVdb publication page

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Utility of Genomic Testing after Renal Biopsy.

American Journal Of Nephrology

Murray, Susan L SL; Dorman, Anthony A; Benson, Katherine A KA; Connaughton, Dervla M DM; Stapleton, Caragh P CP; Fennelly, Neil K NK; Kennedy, Claire C; McDonnell, Ciara A CA; Kidd, Kendrah K; Cormican, Sarah M SM; Ryan, Louise A LA; Lavin, Peter P; Little, Mark A MA; Bleyer, Anthony J AJ; Doyle, Brendan B; Cavalleri, Gianpiero L GL; Hildebrandt, Friedhelm F; Conlon, Peter J PJ

Publication Date: 2020

Variant appearance in text: COL4A5: 2605G>A; Gly869Arg

PubMed Link: 31822006

Variant Present in the following documents:

• Main text

View BVdb publication page

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Monogenic causes of chronic kidney disease in adults.

Kidney International

Connaughton, Dervla M DM; Kennedy, Claire C; Shril, Shirlee S; Mann, Nina N; Murray, Susan L SL; Williams, Patrick A PA; Conlon, Eoin E; Nakayama, Makiko M; van der Ven, Amelie T AT; Ityel, Hadas H; Kause, Franziska F; Kolvenbach, Caroline M CM; Dai, Rufeng R; Vivante, Asaf A; Braun, Daniela A DA; Schneider, Ronen R; Kitzler, Thomas M TM; Moloney, Brona B; Moran, Conor P CP; Smyth, John S JS; Kennedy, Alan A; Benson, Katherine K; Stapleton, Caragh C; Denton, Mark M; Magee, Colm C; O'Seaghdha, Conall M CM; Plant, William D WD; Griffin, Matthew D MD; Awan, Atif A; Sweeney, Clodagh C; Mane, Shrikant M SM; Lifton, Richard P RP; Griffin, Brenda B; Leavey, Sean S; Casserly, Liam L; de Freitas, Declan G DG; Holian, John J; Dorman, Anthony A; Doyle, Brendan B; Lavin, Peter J PJ; Little, Mark A MA; Conlon, Peter J PJ; Hildebrandt, Friedhelm F

Publication Date: 2019-04

Variant appearance in text: COL4A5: 2605G>A; Gly869Arg

PubMed Link: 30773290

Variant Present in the following documents:

• Main text

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: 2605G>A; Gly869Arg

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: 2605G>A; Gly869Arg

PubMed Link: 30577881

Variant Present in the following documents:

• Main text
• 13023_2018_Article_974.pdf

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: COL4A5: G869R

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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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: Gly869Arg

PubMed Link: 27627812

Variant Present in the following documents:

• Main text
• pone.0161802.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: G869R

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: G869R

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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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: COL4A5: G869R

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

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: G869R

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: Gly869Arg

PubMed Link: 23371956

Variant Present in the following documents:

• Main text

View BVdb publication page

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