Jamel Chelly

Somatic mutations of the β-catenin gene are frequent in mouse and human hepatocellular carcinomas

Alix de La Coste, Béatrice Romagnolo, Pierre Billuart et al. · Proceedings of the National Academy of Sciences · 1998 · 1.1K citations · Full text

Defining the phenotypic spectrum of <i>SLC6A1</i> mutations

Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi et al. · Epilepsia · 2018 · 146 citations · Full text

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

Hao Hu, Klaus Wrogemann, Vera M. Kalscheuer et al. · The HUGO Journal · 2009 · 50 citations · Full text

Engineering, Droplet-based Multiplex Pcr, Genetics +25

No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients

Patrick Vourc’h, Thierry Bienvenu, Chérif Beldjord et al. · European Journal of Human Genetics · 2001 · 49 citations · Full text

Coding Region, Developmental Biology, Autistic Patients +7

Mild malformations of cortical development in sleep‐related hypermotor epilepsy due to <i>KCNT1</i> mutations

Guido Rubboli, Giuseppe Plazzi, Fabienne Picard et al. · Annals of Clinical and Translational Neurology · 2018 · 38 citations · Full text