François Cartault

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

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

Alice Hadchouel, Thomas Wieland, Matthias Griese et al. · The American Journal of Human Genetics · 2015 · 124 citations · Full text

Biallelic Mutations, Advanced Lung Disease, Methionyl-trna Synthetase Cause +9

<i>SPRED1</i> germline mutations caused a neurofibromatosis type 1 overlapping phenotype

Éric Pasmant, Audrey Sabbagh, Nadine Hanna et al. · Journal of Medical Genetics · 2009 · 118 citations · Full text

mtDNA polymorphisms in five French groups: importance of regional sampling

Vincent Dubut, Lionel Chollet, Pascal Murail et al. · European Journal of Human Genetics · 2003 · 67 citations · Full text

Genetic Testing, Medicine, Genetics +8

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