Concepedia

Xavier Zanlonghi

XZ

Statistics

Publications

33

Citations

1.6K

H-Index

23

Active since

2003

Affiliations

Inserm(Current)

Institute for Neurosciences of Montpellier

Université de Montpellier

Centre National de la Recherche Scientifique

Clinique Jules Verne

Xavier Zanlonghi is an author at Inserm specializing in genetics, human genetics, and ocular genetics.

Publications per year

2003–2023

33

Publications

33

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

Isabelle Perrault, Sylvain Hanein, Xavier Zanlonghi et al. · Nature Genetics · 2012 · 147 citations

Medicine, Genetics, Ophthalmology +16

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Laura Whelan et al. · Genetics in Medicine · 2020 · 142 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

Christina Zeitz, Samuel G. Jacobson, Christian Hamel et al. · The American Journal of Human Genetics · 2012 · 138 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Isabelle Audo, Kinga M. Bujakowska, Elise Orhan et al. · The American Journal of Human Genetics · 2012 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

Gaël Manès, Isabelle Meunier, Almudena Ávila‐Fernández et al. · The American Journal of Human Genetics · 2013 · 81 citations · Full text

Medicine, Genetics, Ophthalmology +10

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