Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Npj Genomic Medicine
Schlottmann, Patricio G PG; Luna, José D JD; Labat, Natalia N; Yadarola, María Belén MB; Bainttein, Silvina S; Esposito, Evangelina E; Ibañez, Agustina A; Barbaro, Evangelina Ivón EI; Álvarez Mendiara, Alejandro A; Picotti, Carolina P CP; Chirino Misisian, Andrea A; Andreussi, Luciana L; Gras, Julieta J; Capalbo, Luciana L; Visotto, Mauro M; Dipierri, José E JE; Alcoba, Emilio E; Fernández Gabrielli, Laura L; Ávila, Silvia S; Aucar, María Emilia ME; Martin, Daniel M DM; Ormaechea, Gerardo Juan GJ; Inga, M Eugenia ME; Francone, Aníbal A AA; Charles, Martin M; Zompa, Tamara T; Pérez, Pablo Javier PJ; Lotersztein, Vanesa V; Nuova, Pedro J PJ; Canonero, Ivana B IB; Mahroo, Omar A OA; Michaelides, Michel M; Arno, Gavin G; Daich Varela, Malena M
Publication Date: 2023-05-22
Variant appearance in text: USH2A: 11864G>A; Trp3955*
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: 11864G>A; Trp3955Ter
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: 11864G>A; Trp3955*
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
Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations.
International Journal Of Molecular Sciences
Gersch, Julia J; Hufendiek, Katerina K; Delarocque, Julien J; Framme, Carsten C; Jacobsen, Christina C; Stöhr, Heidi H; Kellner, Ulrich U; Hufendiek, Karsten K
Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.
International Journal Of Molecular Sciences
Shatokhina, Olga O; Galeeva, Nailya N; Stepanova, Anna A; Markova, Tatiana T; Lalayants, Maria M; Alekseeva, Natalia N; Tavarkiladze, George G; Markova, Tatiana T; Bessonova, Liudmila L; Petukhova, Marina M; Guseva, Daria D; Anisimova, Inga I; Polyakov, Alexander A; Ryzhkova, Oxana O; Bliznetz, Elena E
Publication Date: 2022-12-12
Variant appearance in text: USH2A: 11864G>A; Trp3955*
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Scientific Reports
Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S
Publication Date: 2022-12-02
Variant appearance in text: USH2A: 11864G>A; Trp3955*
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Frontiers In Genetics
Maltese, Paolo Enrico PE; Colombo, Leonardo L; Martella, Salvatore S; Rossetti, Luca L; El Shamieh, Said S; Sinibaldi, Lorenzo L; Passarelli, Chiara C; Coppè, Andrea Maria AM; Buzzonetti, Luca L; Falsini, Benedetto B; Chiurazzi, Pietro P; Placidi, Giorgio G; Tanzi, Benedetta B; Bertelli, Matteo M; Iarossi, Giancarlo G
Publication Date: 2022
Variant appearance in text: USH2A: 11864G>A; Trp3955*; rs111033364
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
Npj Breast Cancer
Kostecka, Anna A; Nowikiewicz, Tomasz T; Olszewski, Paweł P; Koczkowska, Magdalena M; Horbacz, Monika M; Heinzl, Monika M; Andreou, Maria M; Salazar, Renato R; Mair, Theresa T; Madanecki, Piotr P; Gucwa, Magdalena M; Davies, Hanna H; Skokowski, Jarosław J; Buckley, Patrick G PG; Pęksa, Rafał R; Śrutek, Ewa E; Szylberg, Łukasz Ł; Hartman, Johan J; Jankowski, Michał M; Zegarski, Wojciech W; Tiemann-Boege, Irene I; Dumanski, Jan P JP; Piotrowski, Arkadiusz A
Publication Date: 2022-06-29
Variant appearance in text: USH2A: 11864G>A; Trp3955Ter; rs111033364
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.
Biomedicines
Morgan, Anna A; Faletra, Flavio F; Severi, Giulia G; La Bianca, Martina M; Licchetta, Laura L; Gasparini, Paolo P; Graziano, Claudio C; Girotto, Giorgia G
Publication Date: 2021-12-22
Variant appearance in text: USH2A: 11864G>A; Trp3955*
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.
Biomedicines
Morgan, Anna A; Faletra, Flavio F; Severi, Giulia G; La Bianca, Martina M; Licchetta, Laura L; Gasparini, Paolo P; Graziano, Claudio C; Girotto, Giorgia G
Publication Date: 2021-12-22
Variant appearance in text: USH2A: 11864G>A; Trp3955*
High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.
Genes
Song, Fei F; Owczarek-Lipska, Marta M; Ahmels, Tim T; Book, Marius M; Aisenbrey, Sabine S; Menghini, Moreno M; Barthelmes, Daniel D; Schrader, Stefan S; Spital, Georg G; Neidhardt, John J
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
International Journal Of Molecular Sciences
Reurink, Janine J; Dockery, Adrian A; Oziębło, Dominika D; Farrar, G Jane GJ; Ołdak, Monika M; Ten Brink, Jacoline B JB; Bergen, Arthur A AA; Rinne, Tuula T; Yntema, Helger G HG; Pennings, Ronald J E RJE; van den Born, L Ingeborgh LI; Aben, Marco M; Oostrik, Jaap J; Venselaar, Hanka H; Plomp, Astrid S AS; Khan, M Imran MI; van Wijk, Erwin E; Cremers, Frans P M FPM; Roosing, Susanne S; Kremer, Hannie H
USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.
Bmc Ophthalmology
Ahmed, Asif Naveed AN; Tahir, Raheel R; Khan, Niamat N; Ahmad, Mushtaq M; Dawood, Muhammad M; Basit, Abdul A; Yasin, Muhammad M; Nowshid, Maha M; Marwan, Muhammad M; Sultan, Komal K; Saleha, Shamim S
Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases.
Frontiers In Genetics
Qian, Xinye X; Wang, Jun J; Wang, Meng M; Igelman, Austin D AD; Jones, Kaylie D KD; Li, Yumei Y; Wang, Keqing K; Goetz, Kerry E KE; Birch, David G DG; Yang, Paul P; Pennesi, Mark E ME; Chen, Rui R
Publication Date: 2021
Variant appearance in text: USH2A: 11864G>A; W3955X
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Investigative Ophthalmology & Visual Science
Colombo, Leonardo L; Maltese, Paolo E PE; Castori, Marco M; El Shamieh, Said S; Zeitz, Christina C; Audo, Isabelle I; Zulian, Alessandra A; Marinelli, Carla C; Benedetti, Sabrina S; Costantini, Alisia A; Bressan, Simone S; Percio, Marcella M; Ferri, Paolo P; Abeshi, Andi A; Bertelli, Matteo M; Rossetti, Luca L
Publication Date: 2021-02-01
Variant appearance in text: USH2A: 11864G>A; Trp3955*; rs111033364
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Edge of Scotoma Sensitivity as a Microperimetry Clinical Trial End Point in USH2A Retinopathy.
Translational Vision Science & Technology
Charng, Jason J; Lamey, Tina M TM; Thompson, Jennifer A JA; McLaren, Terri L TL; Attia, Mary S MS; McAllister, Ian L IL; Constable, Ian J IJ; Mackey, David A DA; De Roach, John N JN; Chen, Fred K FK
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
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
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: 11864G>A; Trp3955Ter
Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy.
Genes
Fakin, Ana A; Šuštar, Maja M; Brecelj, Jelka J; Bonnet, Crystel C; Petit, Christine C; Zupan, Andrej A; Glavač, Damjan D; Jarc-Vidmar, Martina M; Battelino, Saba S; Hawlina, Marko M