Delphine Héron

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Tobias B. Haack, Penelope Hogarth, Michael C. Kruer et al. · The American Journal of Human Genetics · 2012 · 358 citations · Full text

X-linked Dominant Form, Genetic Disorder, Genetics +8

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

Susan J. Hayflick, Michael C. Kruer, Allison Gregory et al. · Brain · 2013 · 246 citations · Full text

Neurological Disorder, Corticobasal Degeneration, Brain Iron Accumulation +19

Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission

Theofanis Karayannis, Edmund Au, Jyoti C. Patel et al. · Nature · 2014 · 204 citations · Full text

Synaptic Plasticity, Molecular Neuroscience, Synaptic Transmission +7

PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

Christel Thauvin‐Robinet, Martine Auclair, Laurence Duplomb et al. · The American Journal of Human Genetics · 2013 · 199 citations · Full text

Metabolic Syndrome, Genetics, Diabetes +3

Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

Christel Depienne, Daniel Moreno‐De‐Luca, Delphine Héron et al. · Biological Psychiatry · 2009 · 159 citations · Full text

Methylation Abnormalities, Autism Spectrum Disorders, Medicine +11