Christèle Dubourg

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro et al. · The American Journal of Human Genetics · 2020 · 309 citations · Full text

Neurodevelopmental Disorders, Mendelian Disorder, Epigenetic Change +11

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

Yongsu Jeong, Federico Coluccio Leskow, Kênia Balbi El-Jaick et al. · Nature Genetics · 2008 · 203 citations · Full text

Transcriptional Regulation, Developmental Biology, Molecular Regulation +4

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 193 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

Caroline Schluth‐Bolard, Bruno Delobel, Damien Sanlaville et al. · European Journal of Medical Genetics · 2009 · 173 citations · Full text

Genetic Disorder, Genetics, Evolutionary Biology +7