| A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy. | A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy.
Serra R, Rallo V, Steri M, Olla S, Piras MG, Marongiu M, Gorospe M, Schlessinger D, Pinna A, Fiorillo E, Cucca F, Angius A., Free PMC Article | 07/24/2024 |
| High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population. | High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population.
Lin YW, Huang YS, Lin CY, Lin CW, Wu CC, Yang CH, Yang CM, Chen PL, Chen TC., Free PMC Article | 06/17/2024 |
| Functional Vision in Patients With Biallelic USH2A Variants. | Functional Vision in Patients With Biallelic USH2A Variants.
Heon E, Melia M, Bocchino LE, Samarakoon L, Duncan JL, Ayala AR, Audo I, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Hoyng CB, Jain N, Jayasundera KT, Pennesi ME, Weng CY, Foundation Fighting Blindness Consortium Investigator Group. | 04/3/2024 |
| The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes. | The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes.
Han JH, Cancellieri F, Perea-Romero I, Ayuso C, Quinodoz M, Rivolta C. | 02/13/2024 |
| USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids. | USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.
Sanjurjo-Soriano C, Jimenez-Medina C, Erkilic N, Cappellino L, Lefevre A, Nagel-Wolfrum K, Wolfrum U, Van Wijk E, Roux AF, Meunier I, Kalatzis V., Free PMC Article | 11/2/2023 |
| Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization. | Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization.
Crane R, Tebbe L, Mwoyosvi ML, Al-Ubaidi MR, Naash MI., Free PMC Article | 10/30/2023 |
| Change in Cone Structure Over 24 Months in USH2A-Related Retinal Degeneration. | Change in Cone Structure Over 24 Months in USH2A-Related Retinal Degeneration.
Duncan JL, Liang W, Maguire MG, Porco TC, Wong J, Audo I, Cava JA, Grieve K, Kalitzeos A, Kreis J, Michaelides M, Norberg N, Paques M, Carroll J, Foundation Fighting Blindness Consortium Investigator Group., Free PMC Article | 07/21/2023 |
| USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients. | USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients.
Ordoñez-Labastida V, Chacon-Camacho OF, Lopez-Rodriguez VR, Zenteno JC., Free PMC Article | 06/15/2023 |
| Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction. | Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S., Free PMC Article | 06/15/2023 |
| Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy. | Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy.
Čadonič K, Sajovic J, Hawlina M, Fakin A., Free PMC Article | 03/30/2023 |
| Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa. | Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa.
Jung S, Park YC, Lee D, Kim S, Kim SM, Kim Y, Lee D, Hyun J, Koh I, Lee JY. | 03/28/2023 |
| Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review. | Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.
Lee BJH, Tham YC, Tan TE, Bylstra Y, Lim WK, Jain K, Chan CM, Mathur R, Cheung CMG, Fenner BJ. | 03/24/2023 |
| USH2A mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer. | USH2A mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer.
Yang D, Feng Y, Lu H, Chen K, Xu J, Li P, Wang T, Xia D, Wu Y., Free PMC Article | 02/10/2023 |
| Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A. | Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A.
Reurink J, Oostrik J, Aben M, Ramos MG, van Berkel E, Ołdak M, van Wijk E, Kremer H, Roosing S, Cremers FPM., Free PMC Article | 11/26/2022 |
| Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort. | Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort.
Meunier A, Zanlonghi X, Roux AF, Fils JF, Caspers L, Migeotte I, Abramowicz M, Meunier I. | 09/17/2022 |
| Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families. | Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.
Xing D, Yu R, Wang L, Hu L, Yang Y, Li C, Li Z, Li X., Free PMC Article | 07/30/2022 |
| The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene. | The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene.
Birch DG, Samarakoon L, Melia M, Duncan JL, Ayala AR, Audo I, Cheetham JK, Durham TA, Iannaccone A, Pennesi ME, Stingl K, Foundation Fighting Blindness Consortium Investigator Group., Free PMC Article | 07/30/2022 |
| Early audiological phenotype in patients with mutations in the USH2A gene. | Early audiological phenotype in patients with mutations in the USH2A gene.
Markova TG, Lalayants MR, Alekseeva NN, Ryzhkova OP, Shatokhina OL, Galeeva NM, Bliznetz EA, Weener ME, Belov OA, Chibisova SS, Polyakov AV, Tavartkiladze GA. | 05/28/2022 |
| Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A). | Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).
Iannaccone A, Brewer CC, Cheng P, Duncan JL, Maguire MG, Audo I, Ayala AR, Bernstein PS, Bidelman GM, Cheetham JK, Doty RL, Durham TA, Hufnagel RB, Myers MH, Stingl K, Zein WM, Foundation Fighting Blindness Consortium Investigator Group., Free PMC Article | 03/5/2022 |
| The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A. | The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF., Free PMC Article | 01/15/2022 |
| Correlation between Genotype and Phenotype in 69 Chinese Patients with USH2A Mutations: A comparative study of the patients with Usher Syndrome and Nonsyndromic Retinitis Pigmentosa. | Correlation between Genotype and Phenotype in 69 Chinese Patients with USH2A Mutations: A comparative study of the patients with Usher Syndrome and Nonsyndromic Retinitis Pigmentosa.
Meng X, Liu X, Li Y, Guo T, Yang L. | 11/27/2021 |
| Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush. | Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.
Fakin A, Bonnet C, Kurtenbach A, Mohand-Said S, Zobor D, Stingl K, Testa F, Simonelli F, Sahel JA, Audo I, Zrenner E, Hawlina M, Petit C., Free PMC Article | 10/30/2021 |
| Clinical and preclinical therapeutic outcome metrics for USH2A-related disease. | Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
Toms M, Dubis AM, de Vrieze E, Tracey-White D, Mitsios A, Hayes M, Broekman S, Baxendale S, Utoomprurkporn N, Bamiou D, Bitner-Glindzicz M, Webster AR, Van Wijk E, Moosajee M., Free PMC Article | 08/14/2021 |
| USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa. | USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.
Zhu T, Chen DF, Wang L, Wu S, Wei X, Li H, Jin ZB, Sui R. | 08/7/2021 |
| USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families. | USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.
Ahmed AN, Tahir R, Khan N, Ahmad M, Dawood M, Basit A, Yasin M, Nowshid M, Marwan M, Sultan K, Saleha S., Free PMC Article | 07/24/2021 |