Solanki, Kaushal V KV; Hu, Yirui Y; Moore, Bryn S BS; Abedi, Vida V; Avula, Venkatesh V; Mirshahi, Tooraj T; , ; Strande, Natasha T NT; Bucaloiu, Ion D ID; Chang, Alexander R AR
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: COL4A3: 4981C>T; Arg1661Cys
New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3.
Journal Of Clinical Medicine
García-Aznar, José María JM; De la Higuera, Luis L; Besada Cerecedo, Lara L; Gandiaga, Nerea Paz NP; Vega, Ana Isabel AI; Fernández-Fresnedo, Gema G; González-Lamuño, Domingo D
Pinto E Vairo, Filippo F; Prochnow, Carri C; Kemppainen, Jennifer L JL; Lisi, Emily C EC; Steyermark, Joan M JM; Kruisselbrink, Teresa M TM; Pichurin, Pavel N PN; Dhamija, Rhadika R; Hager, Megan M MM; Albadri, Sam S; Cornell, Lynn D LD; Lazaridis, Konstantinos N KN; Klee, Eric W EW; Senum, Sarah R SR; El Ters, Mireille M; Amer, Hatem H; Baudhuin, Linnea M LM; Moyer, Ann M AM; Keddis, Mira T MT; Zand, Ladan L; Sas, David J DJ; Erickson, Stephen B SB; Fervenza, Fernando C FC; Lieske, John C JC; Harris, Peter C PC; Hogan, Marie C MC
Publication Date: 2021
Variant appearance in text: COL4A3: 4981C>T; Arg1661Cys
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.
Human Genetics
Florentine, Michelle M MM; Rouse, Stephanie L SL; Stephans, Jihyun J; Conrad, David D; Czechowicz, Josephine J; Matthews, Ian R IR; Meyer, Anna K AK; Nadaraja, Garani S GS; Parikh, Rajan R; Virbalas, Jordan J; Weinstein, Jacqueline E JE; Chan, Dylan K DK
Publication Date: 2022-04
Variant appearance in text: COL4A3: 4981C>T; R1661C
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Molecular Genetics & Genomic Medicine
Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D
Publication Date: 2021-09
Variant appearance in text: COL4A3: 4981C>T; Arg1661Cys
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Molecular Genetics & Genomic Medicine
Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D
Publication Date: 2021-09
Variant appearance in text: COL4A3: 4981C>T; Arg1661Cys
Reference exome data for a Northern Brazilian population.
Scientific Data
Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB
Publication Date: 2020-10-21
Variant appearance in text: COL4A3: 4981C>T; Arg1661Cys; rs201697532
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: COL4A3: 4981C>T; Arg1661Cys
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: COL4A3: 4981C>T; Arg1661Cys
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: COL4A3: R1661C; rs201697532
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Cold Spring Harbor Molecular Case Studies
Rego, Shannon S; Dagan-Rosenfeld, Orit O; Zhou, Wenyu W; Sailani, M Reza MR; Limcaoco, Patricia P; Colbert, Elizabeth E; Avina, Monika M; Wheeler, Jessica J; Craig, Colleen C; Salins, Denis D; Röst, Hannes L HL; Dunn, Jessilyn J; McLaughlin, Tracey T; Steinmetz, Lars M LM; Bernstein, Jonathan A JA; Snyder, Michael P MP
Publication Date: 2018-12
Variant appearance in text: COL4A3: 4981C>T; R1661C
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.
Kidney International
Malone, Andrew F AF; Phelan, Paul J PJ; Hall, Gentzon G; Cetincelik, Umran U; Homstad, Alison A; Alonso, Andrea S AS; Jiang, Ruiji R; Lindsey, Thomas B TB; Wu, Guanghong G; Sparks, Matthew A MA; Smith, Stephen R SR; Webb, Nicholas J A NJ; Kalra, Philip A PA; Adeyemo, Adebowale A AA; Shaw, Andrey S AS; Conlon, Peter J PJ; Jennette, J Charles JC; Howell, David N DN; Winn, Michelle P MP; Gbadegesin, Rasheed A RA
Publication Date: 2014-12
Variant appearance in text: COL4A3: R1661C; rs201697532