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: 13010C>T; Thr4337Met

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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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: USH2A: 13010C>T; Thr4337Met

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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Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Frontiers In Cell And Developmental Biology

Panneman, Daan M DM; Hitti-Malin, Rebekkah J RJ; Holtes, Lara K LK; de Bruijn, Suzanne E SE; Reurink, Janine J; Boonen, Erica G M EGM; Khan, Muhammad Imran MI; Ali, Manir M; Andréasson, Sten S; De Baere, Elfride E; Banfi, Sandro S; Bauwens, Miriam M; Ben-Yosef, Tamar T; Bocquet, Béatrice B; De Bruyne, Marieke M; de la Cerda, Berta B; Coppieters, Frauke F; Farinelli, Pietro P; Guignard, Thomas T; Inglehearn, Chris F CF; Karali, Marianthi M; Kjellström, Ulrika U; Koenekoop, Robert R; de Koning, Bart B; Leroy, Bart P BP; McKibbin, Martin M; Meunier, Isabelle I; Nikopoulos, Konstantinos K; Nishiguchi, Koji M KM; Poulter, James A JA; Rivolta, Carlo C; Rodríguez de la Rúa, Enrique E; Saunders, Patrick P; Simonelli, Francesca F; Tatour, Yasmin Y; Testa, Francesco F; Thiadens, Alberta A H J AAHJ; Toomes, Carmel C; Tracewska, Anna M AM; Tran, Hoai Viet HV; Ushida, Hiroaki H; Vaclavik, Veronika V; Verhoeven, Virginie J M VJM; van de Vorst, Maartje M; Gilissen, Christian C; Hoischen, Alexander A; Cremers, Frans P M FPM; Roosing, Susanne S

Publication Date: 2023

Variant appearance in text: USH2A: 13010C>T; Thr4337Met

PubMed Link: 36819107

Variant Present in the following documents:

• Table4.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: 13010C>T; Thr4337Met; rs527236137

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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The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Human Genetics

Usami, Shin-Ichi SI; Nishio, Shin-Ya SY

Publication Date: 2022-04

Variant appearance in text: USH2A: 13010C>T; Thr4337Met; rs527236137

PubMed Link: 34599366

Variant Present in the following documents:

• 439_2021_2371_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients.

International Journal Of Molecular Sciences

Inaba, Akira A; Maeda, Akiko A; Yoshida, Akiko A; Kawai, Kanako K; Hirami, Yasuhiko Y; Kurimoto, Yasuo Y; Kosugi, Shinji S; Takahashi, Masayo M

Publication Date: 2020-10-22

Variant appearance in text: USH2A: 13010C>T; Thr4337Met

PubMed Link: 33105608

Variant Present in the following documents:

• Main text
• ijms-21-07817.pdf

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: T4337M

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: USH2A: T4337M

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Content generation for patient-reported outcome measures for retinal degeneration therapeutic trials.

Ophthalmic Genetics

Lacy, Gabrielle D GD; Abalem, Maria Fernanda MF; Popova, Lilia T LT; Santos, Erin P EP; Yu, Gina G; Rakine, Hanan Y HY; Rosenthal, Julie M JM; Ehrlich, Joshua R JR; Musch, David C DC; Jayasundera, K Thiran KT

Publication Date: 2020-08

Variant appearance in text: USH2A: 13010C>T

PubMed Link: 32571121

Variant Present in the following documents:

• Main text

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: USH2A: 13010C>T; Thr4337Met; rs527236137

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.

Scientific Reports

Jauregui, Ruben R; Chan, Lawrence L; Oh, Jin Kyun JK; Cho, Ahra A; Sparrow, Janet R JR; Tsang, Stephen H SH

Publication Date: 2020-02-25

Variant appearance in text: USH2A: 13010C>T

PubMed Link: 32098976

Variant Present in the following documents:

• 41598_2020_60137_MOESM1_ESM.pdf

View BVdb publication page

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Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

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

Zampaglione, Erin E; Kinde, Benyam B; Place, Emily M EM; Navarro-Gomez, Daniel D; Maher, Matthew M; Jamshidi, Farzad F; Nassiri, Sherwin S; Mazzone, J Alex JA; Finn, Caitlin C; Schlegel, Dana D; Comander, Jason J; Pierce, Eric A EA; Bujakowska, Kinga M KM

Publication Date: 2020-06

Variant appearance in text: USH2A: 13010C>T; Thr4337Met

PubMed Link: 32037395

Variant Present in the following documents:

• 41436_2020_759_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

Plos One

Pérez-Carro, Raquel R; Blanco-Kelly, Fiona F; Galbis-Martínez, Lilián L; García-García, Gema G; Aller, Elena E; García-Sandoval, Blanca B; Mínguez, Pablo P; Corton, Marta M; Mahíllo-Fernández, Ignacio I; Martín-Mérida, Inmaculada I; Avila-Fernández, Almudena A; Millán, José M JM; Ayuso, Carmen C

Publication Date: 2018

Variant appearance in text: USH2A: 13010C>T

PubMed Link: 29912909

Variant Present in the following documents:

• Main text
• pone.0199048.pdf

View BVdb publication page

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Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.

Scientific Reports

Sanchez-Navarro, Iker I; R J da Silva, Luciana L; Blanco-Kelly, Fiona F; Zurita, Olga O; Sanchez-Bolivar, Noelia N; Villaverde, Cristina C; Lopez-Molina, Maria Isabel MI; Garcia-Sandoval, Blanca B; Tahsin-Swafiri, Saoud S; Minguez, Pablo P; Riveiro-Alvarez, Rosa R; Lorda, Isabel I; Sanchez-Alcudia, Rocío R; Perez-Carro, Raquel R; Valverde, Diana D; Liu, Yichuan Y; Tian, Lifeng L; Hakonarson, Hakon H; Avila-Fernandez, Almudena A; Corton, Marta M; Ayuso, Carmen C

Publication Date: 2018-03-27

Variant appearance in text: USH2A: 13010C>T; Thr4337Met

PubMed Link: 29588463

Variant Present in the following documents:

• Main text
• 41598_2018_Article_23520.pdf

View BVdb publication page

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Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

Molecular Genetics & Genomic Medicine

Neuhaus, Christine C; Eisenberger, Tobias T; Decker, Christian C; Nagl, Sandra S; Blank, Cornelia C; Pfister, Markus M; Kennerknecht, Ingo I; Müller-Hofstede, Cornelie C; Charbel Issa, Peter P; Heller, Raoul R; Beck, Bodo B; Rüther, Klaus K; Mitter, Diana D; Rohrschneider, Klaus K; Steinhauer, Ute U; Korbmacher, Heike M HM; Huhle, Dagmar D; Elsayed, Solaf M SM; Taha, Hesham M HM; Baig, Shahid M SM; Stöhr, Heidi H; Preising, Markus M; Markus, Susanne S; Moeller, Fabian F; Lorenz, Birgit B; Nagel-Wolfrum, Kerstin K; Khan, Arif O AO; Bolz, Hanno J HJ

Publication Date: 2017-09

Variant appearance in text: USH2: 13010C>T

PubMed Link: 28944237

Variant Present in the following documents:

• Main text

View BVdb publication page

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Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.

Scientific Reports

Sengillo, Jesse D JD; Cabral, Thiago T; Schuerch, Kaspar K; Duong, Jimmy J; Lee, Winston W; Boudreault, Katherine K; Xu, Yu Y; Justus, Sally S; Sparrow, Janet R JR; Mahajan, Vinit B VB; Tsang, Stephen H SH

Publication Date: 2017-09-11

Variant appearance in text: USH2A: Thr4337Met

PubMed Link: 28894305

Variant Present in the following documents:

• Main text
• 41598_2017_Article_11679.pdf
• 41598_2017_11679_MOESM1_ESM.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: USH2A: 13010C>T; Thr4337Met

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.

Plos One

de Castro-Miró, Marta M; Tonda, Raul R; Escudero-Ferruz, Paula P; Andrés, Rosa R; Mayor-Lorenzo, Andrés A; Castro, Joaquín J; Ciccioli, Marcela M; Hidalgo, Daniel A DA; Rodríguez-Ezcurra, Juan José JJ; Farrando, Jorge J; Pérez-Santonja, Juan J JJ; Cormand, Bru B; Marfany, Gemma G; Gonzàlez-Duarte, Roser R

Publication Date: 2016

Variant appearance in text: USH2A: 13010C>T; T4337M

PubMed Link: 28005958

Variant Present in the following documents:

• Main text
• pone.0168966.pdf
• pone.0168966.s005.xls, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: USH2A: 13010C>T; T4337M

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: USH2A: T4337M

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Novel grading system for quantification of cystic macular lesions in Usher syndrome.

Orphanet Journal Of Rare Diseases

Sliesoraityte, Ieva I; Peto, Tunde T; Mohand-Said, Saddek S; Sahel, Jose Alain JA

Publication Date: 2015-12-10

Variant appearance in text: USH2A: T4337M

PubMed Link: 26654877

Variant Present in the following documents:

• Main text
• 13023_2015_Article_372.pdf

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: 13010C>T; Thr4337Met

PubMed Link: 25649381

Variant Present in the following documents:

• Main text
• ejhg2014283a.pdf

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: USH2A: T4337M

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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Experience of targeted Usher exome sequencing as a clinical test.

Molecular Genetics & Genomic Medicine

Besnard, Thomas T; García-García, Gema G; Baux, David D; Vaché, Christel C; Faugère, Valérie V; Larrieu, Lise L; Léonard, Susana S; Millan, Jose M JM; Malcolm, Sue S; Claustres, Mireille M; Roux, Anne-Françoise AF

Publication Date: 2014-01

Variant appearance in text: USH2: 13010C>T

PubMed Link: 24498627

Variant Present in the following documents:

• Main text
• mgg30002-0030.pdf

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: 13010C>T

PubMed Link: 20507924

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

Journal Of Medical Genetics

Aller, E E; Jaijo, T T; Beneyto, M M; Nájera, C C; Oltra, S S; Ayuso, C C; Baiget, M M; Carballo, M M; Antiñolo, G G; Valverde, D D; Moreno, F F; Vilela, C C; Collado, D D; Pérez-Garrigues, H H; Navea, A A; Millán, J M JM

Publication Date: 2006-11

Variant appearance in text: USH2A: T4337M

PubMed Link: 17085681

Variant Present in the following documents:

• Main text

View BVdb publication page

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