Publications:

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A Review of CRISPR Tools for Treating Usher Syndrome: Applicability, Safety, Efficiency, and In Vivo Delivery.

International Journal Of Molecular Sciences

Major, Lauren L; McClements, Michelle E ME; MacLaren, Robert E RE

Publication Date: 2023-04-20

Variant appearance in text: USH2A: 9799T>C

PubMed Link: 37108761

Variant Present in the following documents:

• Main text
• ijms-24-07603.pdf

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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: 9799T>C; Cys3267Arg

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: 9799T>C; Cys3267Arg

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: 9799T>C; Cys3267Arg

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: 9799T>C; Cys3267Arg; rs111033263

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of Pathogenic Variants Correctable With CRISPR Base Editing Among Patients With Recessive Inherited Retinal Degeneration.

Jama Ophthalmology

Fry, Lewis E LE; McClements, Michelle E ME; MacLaren, Robert E RE

Publication Date: 2021-03-01

Variant appearance in text: USH2A: 9799T>C

PubMed Link: 33507217

Variant Present in the following documents:

• Main text

View BVdb publication page

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Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.

Genes

García-García, Gema G; Berzal-Serrano, Alba A; García-Díaz, Piedad P; Villanova-Aparisi, Rebeca R; Juárez-Rodríguez, Sara S; de Paula-Vernetta, Carlos C; Cavallé-Garrido, Laura L; Jaijo, Teresa T; Armengot-Carceller, Miguel M; Millán, José M JM; Aller, Elena E

Publication Date: 2020-12-07

Variant appearance in text: USH2A: 9799T>C; Cys3267Arg

PubMed Link: 33297549

Variant Present in the following documents:

• Main text
• genes-11-01467.pdf

View BVdb publication page

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EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening.

Scientific Reports

Numa, Shogo S; Oishi, Akio A; Higasa, Koichiro K; Oishi, Maho M; Miyata, Manabu M; Hasegawa, Tomoko T; Ikeda, Hanako Ohashi HO; Otsuka, Yuki Y; Matsuda, Fumihiko F; Tsujikawa, Akitaka A

Publication Date: 2020-11-27

Variant appearance in text: rs111033263

PubMed Link: 33247286

Variant Present in the following documents:

• 41598_2020_77558_MOESM1_ESM.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: C3267R

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 9
• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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: 9799T>C

PubMed Link: 32637036

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Atypical and ultra-rare Usher syndrome: a review.

Ophthalmic Genetics

Nolen, Rosalie M RM; Hufnagel, Robert B RB; Friedman, Thomas B TB; Turriff, Amy E AE; Brewer, Carmen C CC; Zalewski, Christopher K CK; King, Kelly A KA; Wafa, Talah T TT; Griffith, Andrew J AJ; Brooks, Brian P BP; Zein, Wadih M WM

Publication Date: 2020-10

Variant appearance in text: USH2: C3267R

PubMed Link: 32372680

Variant Present in the following documents:

• Main text

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: USH2A: 9799T>C; Cys3267Arg; rs111033263

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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: 9799T>C; Cys3267Arg

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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High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.

Scientific Reports

Fuster-García, Carla C; García-García, Gema G; Jaijo, Teresa T; Fornés, Neus N; Ayuso, Carmen C; Fernández-Burriel, Miguel M; Sánchez-De la Morena, Ana A; Aller, Elena E; Millán, José M JM

Publication Date: 2018-11-20

Variant appearance in text: USH2A: Cys3267Arg

PubMed Link: 30459346

Variant Present in the following documents:

• Main text
• 41598_2018_Article_35085.pdf

View BVdb publication page

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Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing.

Scientific Reports

González-Del Pozo, María M; Martín-Sánchez, Marta M; Bravo-Gil, Nereida N; Méndez-Vidal, Cristina C; Chimenea, Ángel Á; Rodríguez-de la Rúa, Enrique E; Borrego, Salud S; Antiñolo, Guillermo G

Publication Date: 2018-09-06

Variant appearance in text: USH2A: Cys3267Arg

PubMed Link: 30190494

Variant Present in the following documents:

• Main text
• 41598_2018_Article_31511.pdf

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: 9799T>C

PubMed Link: 29912909

Variant Present in the following documents:

• Main text
• pone.0199048.pdf

View BVdb publication page

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Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.

Scientific Reports

Riera, Marina M; Navarro, Rafael R; Ruiz-Nogales, Sheila S; Méndez, Pilar P; Burés-Jelstrup, Anniken A; Corcóstegui, Borja B; Pomares, Esther E

Publication Date: 2017-02-09

Variant appearance in text: USH2A: 9799T>C; Cys3267Arg

PubMed Link: 28181551

Variant Present in the following documents:

• Main text
• srep42078.pdf

View BVdb publication page

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Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.

Scientific Reports

Zhang, Qi Q; Xu, Mingchu M; Verriotto, Jennifer D JD; Li, Yumei Y; Wang, Hui H; Gan, Lin L; Lam, Byron L BL; Chen, Rui R

Publication Date: 2016-09-06

Variant appearance in text: USH2A: C3267R

PubMed Link: 27596865

Variant Present in the following documents:

• Main text
• srep32792.pdf

View BVdb publication page

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Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.

Scientific Reports

Perez-Carro, Raquel R; Corton, Marta M; Sánchez-Navarro, Iker I; Zurita, Olga O; Sanchez-Bolivar, Noelia N; Sánchez-Alcudia, Rocío R; Lelieveld, Stefan H SH; Aller, Elena E; Lopez-Martinez, Miguel Angel MA; López-Molina, Ma Isabel MI; Fernandez-San Jose, Patricia P; Blanco-Kelly, Fiona F; Riveiro-Alvarez, Rosa R; Gilissen, Christian C; Millan, Jose M JM; Avila-Fernandez, Almudena A; Ayuso, Carmen C

Publication Date: 2016-01-25

Variant appearance in text: USH2A: Cys3267Arg

PubMed Link: 26806561

Variant Present in the following documents:

• Main text
• srep19531.pdf

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: C3267R

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

Orphanet Journal Of Rare Diseases

Aparisi, María J MJ; Aller, Elena E; Fuster-García, Carla C; García-García, Gema G; Rodrigo, Regina R; Vázquez-Manrique, Rafael P RP; Blanco-Kelly, Fiona F; Ayuso, Carmen C; Roux, Anne-Françoise AF; Jaijo, Teresa T; Millán, José M JM

Publication Date: 2014-11-18

Variant appearance in text: USH2A: Cys3267Arg

PubMed Link: 25404053

Variant Present in the following documents:

• Main text
• 13023_2014_Article_168.pdf

View BVdb publication page

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Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

Plos One

de Castro-Miró, Marta M; Pomares, Esther E; Lorés-Motta, Laura L; Tonda, Raul R; Dopazo, Joaquín J; Marfany, Gemma G; Gonzàlez-Duarte, Roser R

Publication Date: 2014

Variant appearance in text: USH2A: 9799T>C; C3267R

PubMed Link: 24516651

Variant Present in the following documents:

• Main text
• pone.0088410.pdf

View BVdb publication page

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Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Nishiguchi, Koji M KM; Tearle, Richard G RG; Liu, Yangfan P YP; Oh, Edwin C EC; Miyake, Noriko N; Benaglio, Paola P; Harper, Shyana S; Koskiniemi-Kuendig, Hanna H; Venturini, Giulia G; Sharon, Dror D; Koenekoop, Robert K RK; Nakamura, Makoto M; Kondo, Mineo M; Ueno, Shinji S; Yasuma, Tetsuhiro R TR; Beckmann, Jacques S JS; Ikegawa, Shiro S; Matsumoto, Naomichi N; Terasaki, Hiroko H; Berson, Eliot L EL; Katsanis, Nicholas N; Rivolta, Carlo C

Publication Date: 2013-10-01

Variant appearance in text: USH2A: C3267R

PubMed Link: 24043777

Variant Present in the following documents:

• Main text

View BVdb publication page

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Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

Ophthalmology

Riveiro-Alvarez, Rosa R; Lopez-Martinez, Miguel-Angel MA; Zernant, Jana J; Aguirre-Lamban, Jana J; Cantalapiedra, Diego D; Avila-Fernandez, Almudena A; Gimenez, Ascension A; Lopez-Molina, Maria-Isabel MI; Garcia-Sandoval, Blanca B; Blanco-Kelly, Fiona F; Corton, Marta M; Tatu, Sorina S; Fernandez-San Jose, Patricia P; Trujillo-Tiebas, Maria-Jose MJ; Ramos, Carmen C; Allikmets, Rando R; Ayuso, Carmen C

Publication Date: 2013-11

Variant appearance in text: USH2A: Cys3267Arg

PubMed Link: 23755871

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: USH2A: 9799T>C; C3267R; rs111033263

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 2

View BVdb publication page

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Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Journal Of Medical Genetics

Le Quesne Stabej, Polona P; Saihan, Zubin Z; Rangesh, Nell N; Steele-Stallard, Heather B HB; Ambrose, John J; Coffey, Alison A; Emmerson, Jenny J; Haralambous, Elene E; Hughes, Yasmin Y; Steel, Karen P KP; Luxon, Linda M LM; Webster, Andrew R AR; Bitner-Glindzicz, Maria M

Publication Date: 2012-01

Variant appearance in text: USH2A: Cys3267Arg

PubMed Link: 22135276

Variant Present in the following documents:

• Main text
• jmedgenet-2011-100468.pdf

View BVdb publication page

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Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

Orphanet Journal Of Rare Diseases

Garcia-Garcia, Gema G; Aparisi, Maria J MJ; Jaijo, Teresa T; Rodrigo, Regina R; Leon, Ana M AM; Avila-Fernandez, Almudena A; Blanco-Kelly, Fiona F; Bernal, Sara S; Navarro, Rafael R; Diaz-Llopis, Manuel M; Baiget, Montserrat M; Ayuso, Carmen C; Millan, Jose M JM; Aller, Elena E

Publication Date: 2011-10-17

Variant appearance in text: USH2A: 9799T>C

PubMed Link: 22004887

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

Molecular Vision

Ávila-Fernández, Almudena A; Cantalapiedra, Diego D; Aller, Elena E; Vallespín, Elena E; Aguirre-Lambán, Jana J; Blanco-Kelly, Fiona F; Corton, M M; Riveiro-Álvarez, Rosa R; Allikmets, Rando R; Trujillo-Tiebas, María José MJ; Millán, José M JM; Cremers, Frans P M FP; Ayuso, Carmen C

Publication Date: 2010-12-03

Variant appearance in text: USH2A: 9799T>C; Cys3267Arg

PubMed Link: 21151602

Variant Present in the following documents:

• Main text
• mv-v16-2550.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: 9799T>C

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: C3267R

PubMed Link: 17085681

Variant Present in the following documents:

• Main text

View BVdb publication page

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