Christel Depienne

Christel Depienne publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Christel Depienne sits on this spectrum.

Christel Depienne D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Christel Depienne sits on this spectrum.

Overview

Best Publications

• Analysis of shared heritability in common disorders of the brain

  Verneri Anttila;Verneri Anttila;Brendan Bulik-Sullivan;Brendan Bulik-Sullivan;Hilary K. Finucane;Raymond K. Walters;Raymond K. Walters

  1978
  Citations

• Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

  Phil H. Lee;Verneri Anttila;Hyejung Won;Yen-Chen A. Feng

  1346
  Citations

• Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

  Claire S. Leblond;Caroline Nava;Anne Polge;Julie Gauthier

  704
  Citations

• Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

  Christel Depienne;Christel Depienne;Delphine Bouteiller;Boris Keren;Emmanuel Cheuret

  440
  Citations

• Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies

  Dongmei Yu;Jae Hoon Sul;Fotis Tsetsos;Muhammad S Nawaz

  415
  Citations

• Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

  C Depienne;O Trouillard;C Saint-Martin;I Gourfinkel-An

  415
  Citations

• De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

  Steffen Syrbe;Ulrike B.S. Hedrich;Erik Riesch;Tania Djémié

  337
  Citations

• The phenotypic spectrum of SCN8A encephalopathy

  Jan Larsen;Gemma L Carvill;Elena Gardella;Gerhard Kluger

  300
  Citations

• 30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

  Christel Depienne;Christel Depienne;Jean-Louis Mandel

  284
  Citations

• Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

  Giovanni Stevanin;Hamid Azzedine;Paola Denora;Amir Boukhris

  283
  Citations

• Hereditary spastic paraplegias: an update

  Christel Depienne;Giovanni Stevanin;Alexis Brice;Alexandra Durr

  278
  Citations

• GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects

  Konrad Platzer;Hongjie Yuan;Hannah Schütz;Alexander Winschel

  272
  Citations

• De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

  Arvid Suls;Johanna A. Jaehn;Angela Kecskés;Yvonne Weber

  263
  Citations

• De novo mutations in HCN1 cause early infantile epileptic encephalopathy

  Caroline Nava;Carine Dalle;Agnès Rastetter;Pasquale Striano

  262
  Citations

• Annonacin, a Natural Mitochondrial Complex I Inhibitor, Causes Tau Pathology in Cultured Neurons

  Myriam Escobar-Khondiker;Matthias Höllerhage;Marie-Paule Muriel;Pierre Champy

  230
  Citations

• Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

  Christelle Tesson;Magdalena Nawara;Magdalena Nawara;Magdalena Nawara;Mustafa A.M. Salih;Rodrigue Rossignol

  219
  Citations

• Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

  Christel Depienne;Marianna Bugiani;Celine Dupuits;Damien Galanaud

  207
  Citations

• Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

  Johannes R. Lemke;Kirsten Geider;Katherine L. Helbig;Henrike O. Heyne

  204
  Citations

• Genome wide meta-analysis identifies genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders

  Lee Ph;Anttila;Won H

  65
  Citations

• Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

  Silke Appenzeller;Rudi Balling;Nina Barisic;Stéphanie Baulac

  33
  Citations