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: 15433G>A; Val5145Ile

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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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.

Hgg Advances

Reurink, Janine J; Weisschuh, Nicole N; Garanto, Alejandro A; Dockery, Adrian A; van den Born, L Ingeborgh LI; Fajardy, Isabelle I; Haer-Wigman, Lonneke L; Kohl, Susanne S; Wissinger, Bernd B; Farrar, G Jane GJ; Ben-Yosef, Tamar T; Pfiffner, Fatma Kivrak FK; Berger, Wolfgang W; Weener, Marianna E ME; Dudakova, Lubica L; Liskova, Petra P; Sharon, Dror D; Salameh, Manar M; Offenheim, Ashley A; Heon, Elise E; Girotto, Giorgia G; Gasparini, Paolo P; Morgan, Anna A; Bergen, Arthur A AA; Ten Brink, Jacoline B JB; Klaver, Caroline C W CCW; Tranebjærg, Lisbeth L; Rendtorff, Nanna D ND; Vermeer, Sascha S; Smits, Jeroen J JJ; Pennings, Ronald J E RJE; Aben, Marco M; Oostrik, Jaap J; Astuti, Galuh D N GDN; Corominas Galbany, Jordi J; Kroes, Hester Y HY; Phan, Milan M; van Zelst-Stams, Wendy A G WAG; Thiadens, Alberta A H J AAHJ; Verheij, Joke B G M JBGM; van Schooneveld, Mary J MJ; de Bruijn, Suzanne E SE; Li, Catherina H Z CHZ; Hoyng, Carel B CB; Gilissen, Christian C; Vissers, Lisenka E L M LELM; Cremers, Frans P M FPM; Kremer, Hannie H; van Wijk, Erwin E; Roosing, Susanne S

Publication Date: 2023-04-13

Variant appearance in text: USH2A: 15433G>A

PubMed Link: 36785559

Variant Present in the following documents:

• Main text
• main.pdf
• mmc2.xlsx, sheet 1
• mmc4.pdf

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: USH2A: V5145I; rs111033269

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: USH2A: 15433G>A; Val5145Ile

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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: 15433G>A; V5145I; rs111033269

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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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: 15433G>A; Val5145Ile

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: 15433G>A; Val5145Ile

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: V5145I

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8
• nihms-1630822.pdf
• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 9

View BVdb publication page

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Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss.

Computational And Structural Biotechnology Journal

Yu, Dongmei D; Zou, Junhuang J; Chen, Qian Q; Zhu, Tian T; Sui, Ruifang R; Yang, Jun J

Publication Date: 2020

Variant appearance in text: USH2A: V5145I

PubMed Link: 32637036

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: USH2A: V5145I

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Scientific Reports

Jespersgaard, Cathrine C; Fang, Mingyan M; Bertelsen, Mette M; Dang, Xiao X; Jensen, Hanne H; Chen, Yulan Y; Bech, Niels N; Dai, Lanlan L; Rosenberg, Thomas T; Zhang, Jianguo J; Møller, Lisbeth Birk LB; Tümer, Zeynep Z; Brøndum-Nielsen, Karen K; Grønskov, Karen K

Publication Date: 2019-02-04

Variant appearance in text: USH2A: 15433G>A; Val5145Ile

PubMed Link: 30718709

Variant Present in the following documents:

• 41598_2018_38007_MOESM2_ESM.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: 15433G>A; Val5145Ile

PubMed Link: 30245029

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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: USH2A: 15433G>A; Val5145Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Scientific Reports

Tiwari, Amit A; Bahr, Angela A; Bähr, Luzy L; Fleischhauer, Johannes J; Zinkernagel, Martin S MS; Winkler, Niklas N; Barthelmes, Daniel D; Berger, Lieselotte L; Gerth-Kahlert, Christina C; Neidhardt, John J; Berger, Wolfgang W

Publication Date: 2016-06-29

Variant appearance in text: USH2A: Val5145Ile

PubMed Link: 27353947

Variant Present in the following documents:

• srep28755-s1.pdf

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: USH2A: V5145I; rs111033269

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 6

View BVdb publication page

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The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

Molecular Vision

van Huet, Ramon A C RA; Pierrache, Laurence H M LH; Meester-Smoor, Magda A MA; Klaver, Caroline C W CC; van den Born, L Ingeborgh LI; Hoyng, Carel B CB; de Wijs, Ilse J IJ; Collin, Rob W J RW; Hoefsloot, Lies H LH; Klevering, B Jeroen BJ

Publication Date: 2015

Variant appearance in text: USH2A: 15433G>A; Val5145Ile

PubMed Link: 25999674

Variant Present in the following documents:

• Main text
• mv-v21-461.pdf

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: USH2A: V5145I; rs111033269

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

Journal Of Medical Genetics

McGee, Terri L TL; Seyedahmadi, Babak Jian BJ; Sweeney, Meredith O MO; Dryja, Thaddeus P TP; Berson, Eliot L EL

Publication Date: 2010-07

Variant appearance in text: USH2: 15433G>A

PubMed Link: 20507924

Variant Present in the following documents:

• Main text

View BVdb publication page

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