Guillaume Jouret

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Clémence Jacquin, Emilie Landais, Céline Poirsier et al. · American Journal of Medical Genetics Part A · 2022 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Juliette Coursimault, Anne-Marie Guerrot, Michelle M. Morrow et al. · Human Genetics · 2021 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Natural history of KBG syndrome in a large European cohort

Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata et al. · Human Molecular Genetics · 2022 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Mio Aerden, Anne‐Sophie Denommé‐Pichon, Dominique Bonneau et al. · European Journal of Human Genetics · 2023 · 21 citations · Full text

Medicine, Genetics, Pediatrics +14

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

Auriane Cospain, Ana Rivera‐Barahona, Erwan Dumontet et al. · Genetics in Medicine · 2022 · 17 citations · Full text

Life Sciences, Craniofacial Biology, Genetics +16