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: 10561T>C; Trp3521Arg
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: 10561T>C; Trp3521Arg
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
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Plos Genetics
Biswas, Pooja P; Villanueva, Adda L AL; Soto-Hermida, Angel A; Duncan, Jacque L JL; Matsui, Hiroko H; Borooah, Shyamanga S; Kurmanov, Berzhan B; Richard, Gabriele G; Khan, Shahid Y SY; Branham, Kari K; Huang, Bonnie B; Suk, John J; Bakall, Benjamin B; Goldberg, Jeffrey L JL; Gabriel, Luis L; Khan, Naheed W NW; Raghavendra, Pongali B PB; Zhou, Jason J; Devalaraja, Sindhu S; Huynh, Andrew A; Alapati, Akhila A; Zawaydeh, Qais Q; Weleber, Richard G RG; Heckenlively, John R JR; Hejtmancik, J Fielding JF; Riazuddin, Sheikh S; Sieving, Paul A PA; Riazuddin, S Amer SA; Frazer, Kelly A KA; Ayyagari, Radha R
Publication Date: 2021-10
Variant appearance in text: USH2A: 10561T>C; Trp3521Arg; rs111033264
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
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Molecular Genetics & Genomic Medicine
Sheck, Leo H N LHN; Esposti, Simona D SD; Mahroo, Omar A OA; Arno, Gavin G; Pontikos, Nikolas N; Wright, Genevieve G; Webster, Andrew R AR; Khan, Kamron N KN; Michaelides, Michel M
Publication Date: 2021-12
Variant appearance in text: USH2A: 10561T>C; Trp3521Arg
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Molecular Genetics & Genomic Medicine
Sheck, Leo H N LHN; Esposti, Simona D SD; Mahroo, Omar A OA; Arno, Gavin G; Pontikos, Nikolas N; Wright, Genevieve G; Webster, Andrew R AR; Khan, Kamron N KN; Michaelides, Michel M
Publication Date: 2021-03-22
Variant appearance in text: USH2A: 10561T>C; Trp3521Arg
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
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20
Variant appearance in text: USH2A: Trp3521Arg; rs111033264
Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.
Ophthalmic Genetics
Stiff, Heather A HA; Sloan-Heggen, Christina M CM; Ko, Ashley A; Pfeifer, Wanda L WL; Kolbe, Diana L DL; Nishimura, Carla J CJ; Frees, Kathy L KL; Booth, Kevin T KT; Wang, Donghong D; Weaver, Amy E AE; Azaiez, Hela H; Kamholz, John J; Smith, Richard J H RJH; Drack, Arlene V AV
Publication Date: 2020-04
Variant appearance in text: USH2A: 10561T>C; Trp3521Arg
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: 10561T>C; Trp3521Arg
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: 10561T>C; rs111033264
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: 10561T>C; Trp3521Arg
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Consugar, Mark B MB; Navarro-Gomez, Daniel D; Place, Emily M EM; Bujakowska, Kinga M KM; Sousa, Maria E ME; Fonseca-Kelly, Zoë D ZD; Taub, Daniel G DG; Janessian, Maria M; Wang, Dan Yi DY; Au, Elizabeth D ED; Sims, Katherine B KB; Sweetser, David A DA; Fulton, Anne B AB; Liu, Qin Q; Wiggs, Janey L JL; Gai, Xiaowu X; Pierce, Eric A EA
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Plos One
Eisenberger, Tobias T; Neuhaus, Christine C; Khan, Arif O AO; Decker, Christian C; Preising, Markus N MN; Friedburg, Christoph C; Bieg, Anika A; Gliem, Martin M; Charbel Issa, Peter P; Holz, Frank G FG; Baig, Shahid M SM; Hellenbroich, Yorck Y; Galvez, Alberto A; Platzer, Konrad K; Wollnik, Bernd B; Laddach, Nadja N; Ghaffari, Saeed Reza SR; Rafati, Maryam M; Botzenhart, Elke E; Tinschert, Sigrid S; Börger, Doris D; Bohring, Axel A; Schreml, Julia J; Körtge-Jung, Stefani S; Schell-Apacik, Chayim C; Bakur, Khadijah K; Al-Aama, Jumana Y JY; Neuhann, Teresa T; Herkenrath, Peter P; Nürnberg, Gudrun G; Nürnberg, Peter P; Davis, John S JS; Gal, Andreas A; Bergmann, Carsten C; Lorenz, Birgit B; Bolz, Hanno J HJ
Publication Date: 2013
Variant appearance in text: USH2A: 10561T>C; Trp3521Arg; rs111033264
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