Publications:

Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Orphanet Journal Of Rare Diseases

Bouzidi, Aymane A; Charoute, Hicham H; Charif, Majida M; Amalou, Ghita G; Kandil, Mostafa M; Barakat, Abdelhamid A; Lenaers, Guy G

Publication Date: 2022-05-12

Variant appearance in text: ABCA4: 2756_2768del

PubMed Link: 35551639

Variant Present in the following documents:

• 13023_2022_2340_MOESM2_ESM.xlsx, sheet 1

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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: ABCA4: 2756_2768del

PubMed Link: 24265693

Variant Present in the following documents:

• Main text
• pone.0078496.pdf

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