Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndromeChristine Gicquel, Yves Le Bouc, Sylvie Rossignol et al.|Nature Genetics|2005Cited by 504
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disordersVincenzo Salpietro, Alison M. Muir, Christine L. Dixon et al.|Nature Communications|2019Cited by 249
Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith–Wiedemann syndromeVéronique Gaston, Christine Gicquel, Hubert Oro et al.|European Journal of Human Genetics|2001Cited by 173
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Harutomo Hasegawa, Diane Demailly et al.|Brain|2020Cited by 112
Clinico‐Genetic, Imaging and Molecular Delineation of <scp><i>COQ8A</i></scp>‐Ataxia: A Multicenter Study of 59 PatientsAndreas Traschütz, Matthis Synofzik, Tommaso Schirinzi et al.|Annals of Neurology|2020Cited by 77