Emmanuelle Taupiac

Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH

Cyril Goizet, Elsa Excoffier, Laurence Taine et al. · American Journal of Medical Genetics · 2000 · 63 citations

Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome

Fanny Laffargue, Sylvie Bourthoumieu, Brigitte Llanas et al. · Archives of Disease in Childhood · 2014 · 51 citations

Socio-Behavioral Characteristics of Children with Rubinstein-Taybi Syndrome

Cédric Galera, Emmanuelle Taupiac, Sonia Fraisse et al. · Journal of Autism and Developmental Disorders · 2009 · 50 citations

Child Psychology, Psychiatry, Education +8

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and <i><scp>KMT2D</scp></i> mutations

Natacha Lehman, A.C. Mazery, A. Visier et al. · Clinical Genetics · 2017 · 44 citations · Full text

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Didier Lacombe, Agnès Bloch‐Zupan, Cecilie Bredrup et al. · Journal of Medical Genetics · 2024 · 34 citations · Full text