Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Human Mutation
Hitti-Malin, Rebekkah J RJ; Dhaenens, Claire-Marie CM; Panneman, Daan M DM; Corradi, Zelia Z; Khan, Mubeen M; den Hollander, Anneke I AI; Farrar, G Jane GJ; Gilissen, Christian C; Hoischen, Alexander A; van de Vorst, Maartje M; Bults, Femke F; Boonen, Erica G M EGM; Saunders, Patrick P; , ; Roosing, Susanne S; Cremers, Frans P M FPM
Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence.
Ophthalmology Science
Heath Jeffery, Rachael C RC; Thompson, Jennifer A JA; Lo, Johnny J; Lamey, Tina M TM; McLaren, Terri L TL; McAllister, Ian L IL; Mackey, David A DA; Constable, Ian J IJ; De Roach, John N JN; Chen, Fred K FK
SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE.
Retina (Philadelphia, Pa.)
Heath Jeffery, Rachael C RC; Thompson, Jennifer A JA; Lo, Johnny J; Lamey, Tina M TM; McLaren, Terri L TL; De Roach, John N JN; Azamanov, Dimitar N DN; McAllister, Ian L IL; Constable, Ian J IJ; Chen, Fred K FK
Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.
International Journal Of Molecular Sciences
Stephenson, Kirk A J KAJ; Zhu, Julia J; Dockery, Adrian A; Whelan, Laura L; Burke, Tomás T; Turner, Jacqueline J; O'Byrne, James J JJ; Farrar, G Jane GJ; Keegan, David J DJ
Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.
International Journal Of Molecular Sciences
Stephenson, Kirk A J KAJ; Zhu, Julia J; Dockery, Adrian A; Whelan, Laura L; Burke, Tomás T; Turner, Jacqueline J; O'Byrne, James J JJ; Farrar, G Jane GJ; Keegan, David J DJ
Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.
Translational Vision Science & Technology
Tuupanen, Sari S; Gall, Kimberly K; Sistonen, Johanna J; Saarinen, Inka I; Kämpjärvi, Kati K; Wells, Kirsty K; Merkkiniemi, Katja K; von Nandelstadh, Pernilla P; Sarantaus, Laura L; Känsäkoski, Johanna J; Mårtenson, Emma E; Västinsalo, Hanna H; Schleit, Jennifer J; Sankila, Eeva-Marja EM; Kere, Annakarin A; Junnila, Heidi H; Siivonen, Pauli P; Andreevskaya, Margarita M; Kytölä, Ville V; Muona, Mikko M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP
Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.
Translational Vision Science & Technology
Tuupanen, Sari S; Gall, Kimberly K; Sistonen, Johanna J; Saarinen, Inka I; Kämpjärvi, Kati K; Wells, Kirsty K; Merkkiniemi, Katja K; von Nandelstadh, Pernilla P; Sarantaus, Laura L; Känsäkoski, Johanna J; Mårtenson, Emma E; Västinsalo, Hanna H; Schleit, Jennifer J; Sankila, Eeva-Marja EM; Kere, Annakarin A; Junnila, Heidi H; Siivonen, Pauli P; Andreevskaya, Margarita M; Kytölä, Ville V; Muona, Mikko M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
Npj Genomic Medicine
Fadaie, Zeinab Z; Whelan, Laura L; Ben-Yosef, Tamar T; Dockery, Adrian A; Corradi, Zelia Z; Gilissen, Christian C; Haer-Wigman, Lonneke L; Corominas, Jordi J; Astuti, Galuh D N GDN; de Rooij, Laura L; van den Born, L Ingeborgh LI; Klaver, Caroline C W CCW; Hoyng, Carel B CB; Wynne, Niamh N; Duignan, Emma S ES; Kenna, Paul F PF; Cremers, Frans P M FPM; Farrar, G Jane GJ; Roosing, Susanne S
Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect.
Molecular Genetics & Genomic Medicine
Huang, Di D; Thompson, Jennifer A JA; Charng, Jason J; Chelva, Enid E; McLenachan, Samuel S; Chen, Shang-Chih SC; Zhang, Dan D; McLaren, Terri L TL; Lamey, Tina M TM; Constable, Ian J IJ; De Roach, John N JN; Aung-Htut, May Thandar MT; Adams, Abbie A; Fletcher, Sue S; Wilton, Steve D SD; Chen, Fred K FK
Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.
Genes
Whelan, Laura L; Dockery, Adrian A; Wynne, Niamh N; Zhu, Julia J; Stephenson, Kirk K; Silvestri, Giuliana G; Turner, Jacqueline J; O'Byrne, James J JJ; Carrigan, Matthew M; Humphries, Peter P; Keegan, David D; Kenna, Paul F PF; Farrar, G Jane GJ
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Lenassi, Eva E; Clayton-Smith, Jill J; Douzgou, Sofia S; Ramsden, Simon C SC; Ingram, Stuart S; Hall, Georgina G; Hardcastle, Claire L CL; Fletcher, Tracy A TA; Taylor, Rachel L RL; Ellingford, Jamie M JM; Newman, William D WD; Fenerty, Cecilia C; Sharma, Vinod V; Lloyd, I Chris IC; Biswas, Susmito S; Ashworth, Jane L JL; Black, Graeme C GC; Sergouniotis, Panagiotis I PI
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.
Human Mutation
Fadaie, Zeinab Z; Khan, Mubeen M; Del Pozo-Valero, Marta M; Cornelis, Stéphanie S SS; Ayuso, Carmen C; Cremers, Frans P M FPM; Roosing, Susanne S; The Abca Study Group,
Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease.
Genes
Garanto, Alejandro A; Duijkers, Lonneke L; Tomkiewicz, Tomasz Z TZ; Collin, Rob W J RWJ
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Bauwens, Miriam M; Garanto, Alejandro A; Sangermano, Riccardo R; Naessens, Sarah S; Weisschuh, Nicole N; De Zaeytijd, Julie J; Khan, Mubeen M; Sadler, Françoise F; Balikova, Irina I; Van Cauwenbergh, Caroline C; Rosseel, Toon T; Bauwens, Jim J; De Leeneer, Kim K; De Jaegere, Sarah S; Van Laethem, Thalia T; De Vries, Meindert M; Carss, Keren K; Arno, Gavin G; Fakin, Ana A; Webster, Andrew R AR; de Ravel de l'Argentière, Thomy J L TJL; Sznajer, Yves Y; Vuylsteke, Marnik M; Kohl, Susanne S; Wissinger, Bernd B; Cherry, Timothy T; Collin, Rob W J RWJ; Cremers, Frans P M FPM; Leroy, Bart P BP; De Baere, Elfride E
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Sangermano, Riccardo R; Garanto, Alejandro A; Khan, Mubeen M; Runhart, Esmee H EH; Bauwens, Miriam M; Bax, Nathalie M NM; van den Born, L Ingeborgh LI; Khan, Muhammad Imran MI; Cornelis, Stéphanie S SS; Verheij, Joke B G M JBGM; Pott, Jan-Willem R JR; Thiadens, Alberta A H J AAHJ; Klaver, Caroline C W CCW; Puech, Bernard B; Meunier, Isabelle I; Naessens, Sarah S; Arno, Gavin G; Fakin, Ana A; Carss, Keren J KJ; Raymond, F Lucy FL; Webster, Andrew R AR; Dhaenens, Claire-Marie CM; Stöhr, Heidi H; Grassmann, Felix F; Weber, Bernhard H F BHF; Hoyng, Carel B CB; De Baere, Elfride E; Albert, Silvia S; Collin, Rob W J RWJ; Cremers, Frans P M FPM
Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes.
Cold Spring Harbor Molecular Case Studies
Zernant, Jana J; Lee, Winston W; Nagasaki, Takayuki T; Collison, Frederick T FT; Fishman, Gerald A GA; Bertelsen, Mette M; Rosenberg, Thomas T; Gouras, Peter P; Tsang, Stephen H SH; Allikmets, Rando R
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.
American Journal Of Human Genetics
Albert, Silvia S; Garanto, Alejandro A; Sangermano, Riccardo R; Khan, Mubeen M; Bax, Nathalie M NM; Hoyng, Carel B CB; Zernant, Jana J; Lee, Winston W; Allikmets, Rando R; Collin, Rob W J RWJ; Cremers, Frans P M FPM
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
Investigative Ophthalmology & Visual Science
Schulz, Heidi L HL; Grassmann, Felix F; Kellner, Ulrich U; Spital, Georg G; Rüther, Klaus K; Jägle, Herbert H; Hufendiek, Karsten K; Rating, Philipp P; Huchzermeyer, Cord C; Baier, Maria J MJ; Weber, Bernhard H F BH; Stöhr, Heidi H
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
Ophthalmology
Ellingford, Jamie M JM; Barton, Stephanie S; Bhaskar, Sanjeev S; Williams, Simon G SG; Sergouniotis, Panagiotis I PI; O'Sullivan, James J; Lamb, Janine A JA; Perveen, Rahat R; Hall, Georgina G; Newman, William G WG; Bishop, Paul N PN; Roberts, Stephen A SA; Leach, Rick R; Tearle, Rick R; Bayliss, Stuart S; Ramsden, Simon C SC; Nemeth, Andrea H AH; Black, Graeme C M GC
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
Analysis of the ABCA4 genomic locus in Stargardt disease.
Human Molecular Genetics
Zernant, Jana J; Xie, Yajing Angela YA; Ayuso, Carmen C; Riveiro-Alvarez, Rosa R; Lopez-Martinez, Miguel-Angel MA; Simonelli, Francesca F; Testa, Francesco F; Gorin, Michael B MB; Strom, Samuel P SP; Bertelsen, Mette M; Rosenberg, Thomas T; Boone, Philip M PM; Yuan, Bo B; Ayyagari, Radha R; Nagy, Peter L PL; Tsang, Stephen H SH; Gouras, Peter P; Collison, Frederick T FT; Lupski, James R JR; Fishman, Gerald A GA; Allikmets, Rando R
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
Human Molecular Genetics
Braun, Terry A TA; Mullins, Robert F RF; Wagner, Alex H AH; Andorf, Jeaneen L JL; Johnston, Rebecca M RM; Bakall, Benjamin B BB; Deluca, Adam P AP; Fishman, Gerald A GA; Lam, Byron L BL; Weleber, Richard G RG; Cideciyan, Artur V AV; Jacobson, Samuel G SG; Sheffield, Val C VC; Tucker, Budd A BA; Stone, Edwin M EM