Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Isabelle Perrault, Sophie Saunier, Sylvain Hanein, +27

The American Journal of Human Genetics

Mainzer-saldino SyndromeMendelian DisorderGenetic DisorderPathogenesisInherited Metabolic Disease +3

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

Isabelle Perrault, Sylvain Hanein, Xavier Zanlonghi, +20

Nature Genetics

Ocular DiseaseMendelian DisorderOphthalmologyGenetic DisorderMedicine +6

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

Valérie Pelletier, Marguerite Jambou, Nathalie Delphin, +12

Human Mutation

TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

Sylvain Hanein, Isabelle Perrault, Olivier Roche, +17

The American Journal of Human Genetics

Is MutatedNeurodegenerative DiseasesMendelian DisorderOphthalmologyGenetic Disorder +5

Phylogenetic Analyses Indicate an Atypical Nurse-to-Patient Transmission of Human Immunodeficiency Virus Type 1

Christophe Goujon, Véronique Schneider, Jaouad Grofti, +11

Journal of Virology

Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.

Giuseppe Querques, Jennyfer Zerbib, Rossana Santacroce, +8

PubMed

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

Nathalie Delphin, Sylvain Hanein, Lucas Fares‐Taie, +11

European Journal of Human Genetics

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane

Sylvain Hanein, Mathilde Garcia, Lucas Fares‐Taie, +12

Biochimica et Biophysica Acta (BBA) - General Subjects

Mitochondrial Inner MembraneMitochondrial BiogenesisMitochondrial FunctionNatural SciencesMolecular Biology +5

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II

S. Gerber, Sylvain Hanein, Isabelle Perrault, +8

Human Mutation

The Spectrum of Subclinical Best Vitelliform Macular Dystrophy in Subjects with Mutations in<i>BEST1</i>Gene

Giuseppe Querques, Jennyfer Zerbib, Rossana Santacroce, +6

Investigative Ophthalmology & Visual Science