Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
International Journal Of Molecular Sciences
Maggi, Jordi J; Koller, Samuel S; Bähr, Luzy L; Feil, Silke S; Kivrak Pfiffner, Fatma F; Hanson, James V M JVM; Maspoli, Alessandro A; Gerth-Kahlert, Christina C; Berger, Wolfgang W
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; , ; ,
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
Publication Date: 2016
Variant appearance in text: ABCA4: 5311G>A; G1771R