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
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
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