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: USH2A: 3902G>T; Gly1301Val

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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Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Bmc Ophthalmology

Young, Su Ling SL; Stanton, Chloe M CM; Livesey, Benjamin J BJ; Marsh, Joseph A JA; Cackett, Peter D PD

Publication Date: 2022-03-26

Variant appearance in text: USH2A: 3902G>T; G1301V; rs111033524

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM2_ESM.xlsx, sheet 1
• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: USH2A: G1301V; rs111033524

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

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

Patel, Mayher J MJ; DiStefano, Marina T MT; Oza, Andrea M AM; Hughes, Madeline Y MY; Wilcox, Emma H EH; Hemphill, Sarah E SE; Cushman, Brandon J BJ; Grant, Andrew R AR; Siegert, Rebecca K RK; Shen, Jun J; Chapin, Alex A; Boczek, Nicole J NJ; Schimmenti, Lisa A LA; Nara, Kiyomitsu K; Kenna, Margaret M; Azaiez, Hela H; Booth, Kevin T KT; Avraham, Karen B KB; Kremer, Hannie H; Griffith, Andrew J AJ; Rehm, Heidi L HL; Amr, Sami S SS; Tayoun, Ahmad N Abou ANA; ,

Publication Date: 2021-11

Variant appearance in text: USH2A: 3902G>T; Gly1301Val

PubMed Link: 34230634

Variant Present in the following documents:

• NIHMS1734674-supplement-Supplementary_Table_1.xlsx, sheet 1

View BVdb publication page

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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

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

Patel, Mayher J MJ; DiStefano, Marina T MT; Oza, Andrea M AM; Hughes, Madeline Y MY; Wilcox, Emma H EH; Hemphill, Sarah E SE; Cushman, Brandon J BJ; Grant, Andrew R AR; Siegert, Rebecca K RK; Shen, Jun J; Chapin, Alex A; Boczek, Nicole J NJ; Schimmenti, Lisa A LA; Nara, Kiyomitsu K; Kenna, Margaret M; Azaiez, Hela H; Booth, Kevin T KT; Avraham, Karen B KB; Kremer, Hannie H; Griffith, Andrew J AJ; Rehm, Heidi L HL; Amr, Sami S SS; Tayoun, Ahmad N Abou ANA; ,

Publication Date: 2021-11

Variant appearance in text: USH2A: 3902G>T; Gly1301Val

PubMed Link: 34230634

Variant Present in the following documents:

• NIHMS1734674-supplement-Supplementary_Table_1.xlsx, sheet 1

View BVdb publication page

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A novel statistical method for interpreting the pathogenicity of rare variants.

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

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: USH2A: G1301V

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page

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An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.

Genes

Cipriani, Valentina V; Pontikos, Nikolas N; Arno, Gavin G; Sergouniotis, Panagiotis I PI; Lenassi, Eva E; Thawong, Penpitcha P; Danis, Daniel D; Michaelides, Michel M; Webster, Andrew R AR; Moore, Anthony T AT; Robinson, Peter N PN; Jacobsen, Julius O B JOB; Smedley, Damian D

Publication Date: 2020-04-23

Variant appearance in text: USH2A: 3902G>T

PubMed Link: 32340307

Variant Present in the following documents:

• genes-11-00460-s001.pdf

View BVdb publication page

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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: USH2A: G1301V; rs111033524

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

American Journal Of Human Genetics

Azaiez, Hela H; Booth, Kevin T KT; Ephraim, Sean S SS; Crone, Bradley B; Black-Ziegelbein, Elizabeth A EA; Marini, Robert J RJ; Shearer, A Eliot AE; Sloan-Heggen, Christina M CM; Kolbe, Diana D; Casavant, Thomas T; Schnieders, Michael J MJ; Nishimura, Carla C; Braun, Terry T; Smith, Richard J H RJH

Publication Date: 2018-10-04

Variant appearance in text: USH2A: 3902G>T; Gly1301Val

PubMed Link: 30245029

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

European Journal Of Human Genetics : Ejhg

Haer-Wigman, Lonneke L; van Zelst-Stams, Wendy Ag WA; Pfundt, Rolph R; van den Born, L Ingeborgh LI; Klaver, Caroline Cw CC; Verheij, Joke Bgm JB; Hoyng, Carel B CB; Breuning, Martijn H MH; Boon, Camiel Jf CJ; Kievit, Anneke J AJ; Verhoeven, Virginie Jm VJ; Pott, Jan Wr JW; Sallevelt, Suzanne Ceh SC; van Hagen, Johanna M JM; Plomp, Astrid S AS; Kroes, Hester Y HY; Lelieveld, Stefan H SH; Hehir-Kwa, Jayne Y JY; Castelein, Steven S; Nelen, Marcel M; Scheffer, Hans H; Lugtenberg, Dorien D; Cremers, Frans Pm FP; Hoefsloot, Lies L; Yntema, Helger G HG

Publication Date: 2017-05

Variant appearance in text: USH2A: Gly1301Val

PubMed Link: 28224992

Variant Present in the following documents:

• ejhg20179x6.xlsx, sheet 1

View BVdb publication page

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A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

European Journal Of Human Genetics : Ejhg

Lenassi, Eva E; Vincent, Ajoy A; Li, Zheng Z; Saihan, Zubin Z; Coffey, Alison J AJ; Steele-Stallard, Heather B HB; Moore, Anthony T AT; Steel, Karen P KP; Luxon, Linda M LM; Héon, Elise E; Bitner-Glindzicz, Maria M; Webster, Andrew R AR

Publication Date: 2015-10

Variant appearance in text: USH2A: 3902G>T; Gly1301Val

PubMed Link: 25649381

Variant Present in the following documents:

• Main text
• ejhg2014283a.pdf

View BVdb publication page

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Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

Orphanet Journal Of Rare Diseases

Bonnet, Crystel C; Grati, M'hamed M; Marlin, Sandrine S; Levilliers, Jacqueline J; Hardelin, Jean-Pierre JP; Parodi, Marine M; Niasme-Grare, Magali M; Zelenika, Diana D; Délépine, Marc M; Feldmann, Delphine D; Jonard, Laurence L; El-Amraoui, Aziz A; Weil, Dominique D; Delobel, Bruno B; Vincent, Christophe C; Dollfus, Hélène H; Eliot, Marie-Madeleine MM; David, Albert A; Calais, Catherine C; Vigneron, Jacqueline J; Montaut-Verient, Bettina B; Bonneau, Dominique D; Dubin, Jacques J; Thauvin, Christel C; Duvillard, Alain A; Francannet, Christine C; Mom, Thierry T; Lacombe, Didier D; Duriez, Françoise F; Drouin-Garraud, Valérie V; Thuillier-Obstoy, Marie-Françoise MF; Sigaudy, Sabine S; Frances, Anne-Marie AM; Collignon, Patrick P; Challe, Georges G; Couderc, Rémy R; Lathrop, Mark M; Sahel, José-Alain JA; Weissenbach, Jean J; Petit, Christine C; Denoyelle, Françoise F

Publication Date: 2011-05-11

Variant appearance in text: USH2: G1301V

PubMed Link: 21569298

Variant Present in the following documents:

• Main text
• 1750-1172-6-21.pdf

View BVdb publication page

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