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: G325R

PubMed Link: 37214819

Variant Present in the following documents:

• media-2.xlsx, sheet 4
• 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: 973G>A; Gly325Arg

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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Exome-First Strategy in Adult Patients With CKD: A Cohort Study.

Kidney International Reports

Doreille, Alice A; Lombardi, Yannis Y; Dancer, Marine M; Lamri, Radoslava R; Testard, Quentin Q; Vanhoye, Xavier X; Lebre, Anne-Sophie AS; Garcia, Hugo H; Rafat, Cédric C; Ouali, Nacera N; Luque, Yosu Y; Izzedine, Hassan H; Esteve, Emmanuel E; Cez, Alexandre A; Petit-Hoang, Camille C; François, Hélène H; Marchal, Armance A; Letavernier, Emmanuel E; Frémeaux-Bacchi, Véronique V; Boffa, Jean-Jacques JJ; Rondeau, Eric E; Raymond, Laure L; Mesnard, Laurent L

Publication Date: 2023-03

Variant appearance in text: COL4A5: 973G>A; Gly325Arg

PubMed Link: 36938085

Variant Present in the following documents:

• mmc3.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: 973G>A; Gly325Arg

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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Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece.

Genes

Hadjipanagi, Despina D; Papagregoriou, Gregory G; Koutsofti, Constantina C; Polydorou, Christiana C; Alivanis, Polichronis P; Andrikos, Aimilios A; Christodoulidou, Stalo S; Dardamanis, Manthos M; Diamantopoulos, Athanasios A AA; Fountoglou, Anastasios A; Frangou, Eleni E; Georgaki, Eleni E; Giannikouris, Ioannis I; Gkinis, Velissarios V; Goudas, Pavlos C PC; Kalaitzidis, Rigas G RG; Kaperonis, Nikolaos N; Koutroumpas, Georgios G; Makrydimas, George G; Myserlis, Grigorios G; Mitsioni, Andromachi A; Paliouras, Christos C; Papachristou, Fotios F; Papadopoulou, Dorothea D; Papagalanis, Nikolaos N; Papagianni, Aikaterini A; Perysinaki, Garyfalia G; Siomou, Ekaterini E; Sombolos, Konstantinos K; Tzanakis, Ioannis I; Vergoulas, Georgios V GV; Printza, Nicoletta N; Deltas, Constantinos C

Publication Date: 2022-11-24

Variant appearance in text: COL4A5: 973G>A; G325R; rs104886088

PubMed Link: 36553470

Variant Present in the following documents:

• genes-13-02203.pdf

View BVdb publication page

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Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique.

Molecular Genetics & Genomic Medicine

Zhao, Xuechao X; Chen, Chen C; Wei, Yanfu Y; Zhao, Ganye G; Liu, Lina L; Wang, Conghui C; Zhang, Junjun J; Kong, Xiangdong X

Publication Date: 2019-06

Variant appearance in text: COL4A5: 973G>A; Gly325Arg

PubMed Link: 30968591

Variant Present in the following documents:

• Main text
• MGG3-7-e653.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: Gly325Arg

PubMed Link: 30577881

Variant Present in the following documents:

• Main text
• 13023_2018_Article_974.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: COL4A5: 973G>A; Gly325Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: Gly325Arg

PubMed Link: 27627812

Variant Present in the following documents:

• Main text
• pone.0161802.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: G325R

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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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs104886088

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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