Lucie Dupuis

Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

Santhosh Girirajan, Christopher N. Vlangos, Barbara Szomju et al. · Genetics in Medicine · 2006 · 150 citations

Autoimmune Disease, Genetic Disorder, Multiple Genes +11

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

Machteld M. Oud, Paul Tuijnenburg, Maja Hempel et al. · The American Journal of Human Genetics · 2017 · 100 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

Detecting rearrangements in children using subtelomeric FISH and SKY

Blaise Clarkson, Katerina Pavenski, Lucie Dupuis et al. · American Journal of Medical Genetics · 2002 · 97 citations

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Sureni V. Mullegama, Jill A. Rosenfeld, Carmen Orellana et al. · European Journal of Human Genetics · 2013 · 86 citations · Full text

Neurodevelopmental Disorders, Reciprocal Deletion, Psychiatry +9

Mechanism of Biotin Responsiveness in Biotin-Responsive Multiple Carboxylase Deficiency

Lucie Dupuis, Eric Campeau, Daniel Leclerc et al. · Molecular Genetics and Metabolism · 1999 · 46 citations

Biotin Responsiveness, Enzymatic Modification, Biochemistry +1