Patrick Munier

Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Kaye N. Ballantyne, Arwin Ralf, Rachid Aboukhalid et al. · Human Mutation · 2014 · 193 citations · Full text

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

François Cartault, Patrick Munier, Marie‐Line Jacquemont et al. · European Journal of Human Genetics · 2014 · 64 citations · Full text

B4galt7 Deficiency, Homozygous P.r270c Mutation, Mendelian Disorder +6

Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

François Cartault, Patrick Munier, Edgar Benko et al. · Proceedings of the National Academy of Sciences · 2012 · 61 citations · Full text

Brain Development, Genetics, Genomic Mechanism +18

A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients

François Cartault, Caroline Nava, Anne-Claire Malbrunot et al. · DNA repair · 2011 · 52 citations

Somatic Variant, Highest Worldwide Prevalence, Mendelian Disorder +10

How history and geography may explain the distribution in the Comorian archipelago of a novel mutation in DNA repair-deficient xeroderma pigmentosum patients

Alain Sarasin, Patrick Munier, François Cartault · Genetics and Molecular Biology · 2019 · 10 citations · Full text

Genetic Testing, Genetics, Human Polymorphism +19