Publications:

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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: 4913G>A; Cys1638Tyr

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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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: 4913G>A; Cys1638Tyr

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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Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome.

Scientific Reports

Gibson, Joel T JT; Sadeghi-Alavijeh, Omid O; Gale, Daniel P DP; Rothe, Hansjörg H; , ; Savige, Judy J

Publication Date: 2022-07-04

Variant appearance in text: COL4A5: Cys1638Tyr

PubMed Link: 35789182

Variant Present in the following documents:

• Main text
• 41598_2022_Article_14928.pdf

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High Incidence of COL4A Genetic Variants Among a Cohort of Children With Steroid-Resistant Nephrotic Syndrome From Eastern India.

Kidney International Reports

Sinha, Rajiv R; Ray Chaudhury, Arpita A; Sarkar, Subhankar S; Banerjee, Sushmita S; Pulai, Smartya S; Dasgupta, Saugat S; Muorah, Mordi M; Datta, Dipanjana D

Publication Date: 2022-04

Variant appearance in text: COL4A5: Cys1638Tyr

PubMed Link: 35497790

Variant Present in the following documents:

• mmc1.pdf

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Clinical impact of genomic testing in patients with suspected monogenic kidney disease.

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

Jayasinghe, Kushani K; Stark, Zornitza Z; Kerr, Peter G PG; Gaff, Clara C; Martyn, Melissa M; Whitlam, John J; Creighton, Belinda B; Donaldson, Elizabeth E; Hunter, Matthew M; Jarmolowicz, Anna A; Johnstone, Lilian L; Krzesinski, Emma E; Lunke, Sebastian S; Lynch, Elly E; Nicholls, Kathleen K; Patel, Chirag C; Prawer, Yael Y; Ryan, Jessica J; See, Emily J EJ; Talbot, Andrew A; Trainer, Alison A; Tytherleigh, Rigan R; Valente, Giulia G; Wallis, Mathew M; Wardrop, Louise L; West, Kirsty H KH; White, Susan M SM; Wilkins, Ella E; Mallett, Andrew J AJ; Quinlan, Catherine C

Publication Date: 2021-01

Variant appearance in text: COL4A5: 4913G>A; Cys1638Tyr

PubMed Link: 32939031

Variant Present in the following documents:

• 41436_2020_963_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Structures of collagen IV globular domains: insight into associated pathologies, folding and network assembly.

Iucrj

Casino, Patricia P; Gozalbo-Rovira, Roberto R; Rodríguez-Díaz, Jesús J; Banerjee, Sreedatta S; Boutaud, Ariel A; Rubio, Vicente V; Hudson, Billy G BG; Saus, Juan J; Cervera, Javier J; Marina, Alberto A

Publication Date: 2018-11-01

Variant appearance in text: COL4A5: Cys1638Tyr

PubMed Link: 30443360

Variant Present in the following documents:

• m-05-00765-sup1.pdf

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A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.

Biomed Research International

Xiu, Xiaofei X; Yuan, Jinzhong J; Deng, Xiong X; Xiao, Jingjing J; Xu, Hongbo H; Zeng, Zhaoyang Z; Guan, Liping L; Xu, Fengping F; Deng, Sheng S

Publication Date: 2014

Variant appearance in text: COL4A5: Cys1638Tyr

PubMed Link: 25110662

Variant Present in the following documents:

• BMRI2014-186048.pdf

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X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.

Hippokratia

Pierides, A A; Voskarides, K K; Kkolou, M M; Hadjigavriel, M M; Deltas, C C

Publication Date: 2013-07

Variant appearance in text: COL4A5: C1638Y

PubMed Link: 24470729

Variant Present in the following documents:

• Main text

View BVdb publication page

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Epistatic role of the MYH9/APOL1 region on familial hematuria genes.

Plos One

Voskarides, Konstantinos K; Demosthenous, Panayiota P; Papazachariou, Louiza L; Arsali, Maria M; Athanasiou, Yiannis Y; Zavros, Michalis M; Stylianou, Kostas K; Xydakis, Dimitris D; Daphnis, Eugenios E; Gale, Daniel P DP; Maxwell, Patrick H PH; Elia, Avraam A; Pattaro, Cristian C; Pierides, Alkis A; Deltas, Constantinos C

Publication Date: 2013

Variant appearance in text: COL4A5: Cys1638Tyr

PubMed Link: 23516419

Variant Present in the following documents:

• pone.0057925.pdf

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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: C1638Y

PubMed Link: 19919694

Variant Present in the following documents:

• Main text
• 1471-2369-10-38.pdf

View BVdb publication page

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