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
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Investigative Ophthalmology & Visual Science
Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Investigative Ophthalmology & Visual Science
Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C
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
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
The New England Journal Of Medicine
, ; Smedley, Damian D; Smith, Katherine R KR; Martin, Antonio A; Thomas, Ellen A EA; McDonagh, Ellen M EM; Cipriani, Valentina V; Ellingford, Jamie M JM; Arno, Gavin G; Tucci, Arianna A; Vandrovcova, Jana J; Chan, Georgia G; Williams, Hywel J HJ; Ratnaike, Thiloka T; Wei, Wei W; Stirrups, Kathleen K; Ibanez, Kristina K; Moutsianas, Loukas L; Wielscher, Matthias M; Need, Anna A; Barnes, Michael R MR; Vestito, Letizia L; Buchanan, James J; Wordsworth, Sarah S; Ashford, Sofie S; Rehmström, Karola K; Li, Emily E; Fuller, Gavin G; Twiss, Philip P; Spasic-Boskovic, Olivera O; Halsall, Sally S; Floto, R Andres RA; Poole, Kenneth K; Wagner, Annette A; Mehta, Sarju G SG; Gurnell, Mark M; Burrows, Nigel N; James, Roger R; Penkett, Christopher C; Dewhurst, Eleanor E; Gräf, Stefan S; Mapeta, Rutendo R; Kasanicki, Mary M; Haworth, Andrea A; Savage, Helen H; Babcock, Melanie M; Reese, Martin G MG; Bale, Mark M; Baple, Emma E; Boustred, Christopher C; Brittain, Helen H; de Burca, Anna A; Bleda, Marta M; Devereau, Andrew A; Halai, Dina D; Haraldsdottir, Eik E; Hyder, Zerin Z; Kasperaviciute, Dalia D; Patch, Christine C; Polychronopoulos, Dimitris D; Matchan, Angela A; Sultana, Razvan R; Ryten, Mina M; Tavares, Ana L T ALT; Tregidgo, Carolyn C; Turnbull, Clare C; Welland, Matthew M; Wood, Suzanne S; Snow, Catherine C; Williams, Eleanor E; Leigh, Sarah S; Foulger, Rebecca E RE; Daugherty, Louise C LC; Niblock, Olivia O; Leong, Ivone U S IUS; Wright, Caroline F CF; Davies, Jim J; Crichton, Charles C; Welch, James J; Woods, Kerrie K; Abulhoul, Lara L; Aurora, Paul P; Bockenhauer, Detlef D; Broomfield, Alexander A; Cleary, Maureen A MA; Lam, Tanya T; Dattani, Mehul M; Footitt, Emma E; Ganesan, Vijeya V; Grunewald, Stephanie S; Compeyrot-Lacassagne, Sandrine S; Muntoni, Francesco F; Pilkington, Clarissa C; Quinlivan, Rosaline R; Thapar, Nikhil N; Wallis, Colin C; Wedderburn, Lucy R LR; Worth, Austen A; Bueser, Teofila T; Compton, Cecilia C; Deshpande, Charu C; Fassihi, Hiva H; Haque, Eshika E; Izatt, Louise L; Josifova, Dragana D; Mohammed, Shehla S; Robert, Leema L; Rose, Sarah S; Ruddy, Deborah D; Sarkany, Robert R; Say, Genevieve G; Shaw, Adam C AC; Wolejko, Agata A; Habib, Bishoy B; Burns, Gavin G; Hunter, Sarah S; Grocock, Russell J RJ; Humphray, Sean J SJ; Robinson, Peter N PN; Haendel, Melissa M; Simpson, Michael A MA; Banka, Siddharth S; Clayton-Smith, Jill J; Douzgou, Sofia S; Hall, Georgina G; Thomas, Huw B HB; O'Keefe, Raymond T RT; Michaelides, Michel M; Moore, Anthony T AT; Malka, Sam S; Pontikos, Nikolas N; Browning, Andrew C AC; Straub, Volker V; Gorman, Gráinne S GS; Horvath, Rita R; Quinton, Richard R; Schaefer, Andrew M AM; Yu-Wai-Man, Patrick P; Turnbull, Doug M DM; McFarland, Robert R; Taylor, Robert W RW; O'Connor, Emer E; Yip, Janice J; Newland, Katrina K; Morris, Huw R HR; Polke, James J; Wood, Nicholas W NW; Campbell, Carolyn C; Camps, Carme C; Gibson, Kate K; Koelling, Nils N; Lester, Tracy T; Németh, Andrea H AH; Palles, Claire C; Patel, Smita S; Roy, Noemi B A NBA; Sen, Arjune A; Taylor, John J; Cacheiro, Pilar P; Jacobsen, Julius O JO; Seaby, Eleanor G EG; Davison, Val V; Chitty, Lyn L; Douglas, Angela A; Naresh, Kikkeri K; McMullan, Dom D; Ellard, Sian S; Temple, I Karen IK; Mumford, Andrew D AD; Wilson, Gill G; Beales, Phil P; Bitner-Glindzicz, Maria M; Black, Graeme G; Bradley, John R JR; Brennan, Paul P; Burn, John J; Chinnery, Patrick F PF; Elliott, Perry P; Flinter, Frances F; Houlden, Henry H; Irving, Melita M; Newman, William W; Rahman, Shamima S; Sayer, John A JA; Taylor, Jenny C JC; Webster, Andrew R AR; Wilkie, Andrew O M AOM; Ouwehand, Willem H WH; Raymond, F Lucy FL; Chisholm, John J; Hill, Sue S; Bentley, David D; Scott, Richard H RH; Fowler, Tom T; Rendon, Augusto A; Caulfield, Mark M
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.
Molecular Therapy. Nucleic Acids
Khan, Mubeen M; Arno, Gavin G; Fakin, Ana A; Parfitt, David A DA; Dhooge, Patty P A PPA; Albert, Silvia S; Bax, Nathalie M NM; Duijkers, Lonneke L; Niblock, Michael M; Hau, Kwan L KL; Bloch, Edward E; Schiff, Elena R ER; Piccolo, Davide D; Hogden, Michael C MC; Hoyng, Carel B CB; Webster, Andrew R AR; Cremers, Frans P M FPM; Cheetham, Michael E ME; Garanto, Alejandro A; Collin, Rob W J RWJ
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
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
Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt Disease Using En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography.
American Journal Of Ophthalmology
Alabduljalil, Talal T; Patel, Rachel C RC; Alqahtani, Abdullah A AA; Gao, Simon S SS; Gale, Michael J MJ; Zhang, Miao M; Jia, Yali Y; Huang, David D; Chiang, Pei-Wen PW; Chen, Rui R; Wang, Jun J; Weleber, Richard G RG; Pennesi, Mark E ME; Yang, Paul P
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
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
The British Journal Of Ophthalmology
Fujinami, Kaoru K; Strauss, Rupert W RW; Chiang, John Pei-Wen JP; Audo, Isabelle S IS; Bernstein, Paul S PS; Birch, David G DG; Bomotti, Samantha M SM; Cideciyan, Artur V AV; Ervin, Ann-Margret AM; Marino, Meghan J MJ; Sahel, José-Alain JA; Mohand-Said, Saddek S; Sunness, Janet S JS; Traboulsi, Elias I EI; West, Sheila S; Wojciechowski, Robert R; Zrenner, Eberhart E; Michaelides, Michel M; Scholl, Hendrik P N HPN; , ; ,
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.
Molecular Vision
Wawrocka, Anna A; Skorczyk-Werner, Anna A; Wicher, Katarzyna K; Niedziela, Zuzanna Z; Ploski, Rafal R; Rydzanicz, Malgorzata M; Sykulski, Maciej M; Kociecki, Jaroslaw J; Weisschuh, Nicole N; Kohl, Susanne S; Biskup, Saskia S; Wissinger, Bernd B; Krawczynski, Maciej R MR
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Scientific Reports
Birtel, Johannes J; Eisenberger, Tobias T; Gliem, Martin M; Müller, Philipp L PL; Herrmann, Philipp P; Betz, Christian C; Zahnleiter, Diana D; Neuhaus, Christine C; Lenzner, Steffen S; Holz, Frank G FG; Mangold, Elisabeth E; Bolz, Hanno J HJ; Charbel Issa, Peter P
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
European Journal Of Human Genetics : Ejhg
Haer-Wigman, Lonneke L; van Zelst-Stams, Wendy Ag WA; Pfundt, Rolph R; van den Born, L Ingeborgh LI; Klaver, Caroline Cw CC; Verheij, Joke Bgm JB; Hoyng, Carel B CB; Breuning, Martijn H MH; Boon, Camiel Jf CJ; Kievit, Anneke J AJ; Verhoeven, Virginie Jm VJ; Pott, Jan Wr JW; Sallevelt, Suzanne Ceh SC; van Hagen, Johanna M JM; Plomp, Astrid S AS; Kroes, Hester Y HY; Lelieveld, Stefan H SH; Hehir-Kwa, Jayne Y JY; Castelein, Steven S; Nelen, Marcel M; Scheffer, Hans H; Lugtenberg, Dorien D; Cremers, Frans Pm FP; Hoefsloot, Lies L; Yntema, Helger G HG
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
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Plos One
Weisschuh, Nicole N; Mayer, Anja K AK; Strom, Tim M TM; Kohl, Susanne S; Glöckle, Nicola N; Schubach, Max M; Andreasson, Sten S; Bernd, Antje A; Birch, David G DG; Hamel, Christian P CP; Heckenlively, John R JR; Jacobson, Samuel G SG; Kamme, Christina C; Kellner, Ulrich U; Kunstmann, Erdmute E; Maffei, Pietro P; Reiff, Charlotte M CM; Rohrschneider, Klaus K; Rosenberg, Thomas T; Rudolph, Günther G; Vámos, Rita R; Varsányi, Balázs B; Weleber, Richard G RG; Wissinger, Bernd B
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