Nada Houcinat

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

Florian Villegas, Daphné Lehalle, Daniela Mayer et al. · Cell stem cell · 2018 · 109 citations · Full text

Cell Lineage, Lineage Plasticity, Developmental Biology +10

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of <scp>C</scp>harlevoix–<scp>S</scp>aguenay

Julie Pilliod, Sébastien Moutton, Julie Lavie et al. · Annals of Neurology · 2015 · 74 citations

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

Ange‐Line Bruel, Sophie Nambot, Virginie Quéré et al. · European Journal of Human Genetics · 2019 · 61 citations · Full text

Engineering, Singleton Exome Sequencing, Medicine +11

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents

Nada Houcinat, Brigitte Llanas, Sébastien Moutton et al. · American Journal of Medical Genetics Part A · 2015 · 50 citations

Genetics, Renal Pathology, Pathology +18

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Aurélie Bourchany, Christel Thauvin‐Robinet, Daphné Lehalle et al. · European Journal of Medical Genetics · 2017 · 37 citations

Bioinformatics, Long-read Sequencing, Genetic Testing +13