Delphine Héron

Characterization of a Germ-Line Deletion, Including the Entire <i>INK4/ARF</i> Locus, in a Melanoma-Neural System Tumor Family: Identification of <i>ANRIL</i> , an Antisense Noncoding RNA Whose Expression Coclusters with <i>ARF</i>

Éric Pasmant, Ingrid Laurendeau, Delphine Héron et al. · Cancer Research · 2007 · 613 citations · Full text

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Tetsuya Niihori, Yoko Aoki, Yoko Narumi et al. · Nature Genetics · 2006 · 593 citations

Mendelian Disorder, Genetic Disorder, Germline Kras +4

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

Key clinical features to identify girls with CDKL5 mutations

Nadia Bahi‐Buisson, Juliette Nectoux, Haydeé Rosas‐Vargas et al. · Brain · 2008 · 285 citations

Cdkl5-associated Encephalopathy, Developmental Anomaly, Mendelian Disorder +12