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Genetics

D-Index
49
Citations
9639
World Ranking
3997
National Ranking
208

Overview

Amélie Piton is affiliated with the University of Strasbourg in France. Their research primarily spans the fields of Biochemistry, Genetics, and Molecular Biology, with a focus on Genetics and Molecular Biology as main subfields. Other areas of study include Cognitive Neuroscience, Cellular and Molecular Neuroscience, and Psychiatry and Mental Health.

The main research topics covered in their work encompass Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic Variations and Chromosomal Abnormalities, RNA Modifications and Cancer, RNA and Protein Synthesis Mechanisms, RNA Research and Splicing, and Congenital Heart Defects Research.

Amélie Piton has contributed to various scientific venues, publishing frequently in:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Genetics in Medicine
  • The American Journal of Human Genetics
  • European Journal of Human Genetics
  • Movement Disorders

Among notable recent papers authored or co-authored by Amélie Piton are:

  • "Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders" (2020), published in The American Journal of Human Genetics
  • "Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation" (2022), published in Epilepsia
  • "De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects" (2020), published in The American Journal of Human Genetics
  • "Highlighting the Dystonic Phenotype Related to GNAO1" (2022), published in Movement Disorders
  • "Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B)" (2023), published in Movement Disorders

Frequent collaborative partners in their research include:

  • Frédéric Tran Mau-Them
  • Élise Schaefer
  • Boris Keren
  • Cyril Mignot
  • Bertrand Isidor

Best Publications

  • Expression of cytochromes P450, conjugating enzymes and nuclear receptors in human hepatoma heparg cells

    Caroline Aninat;Amélie Piton;Denise Glaise;Typhen Le Charpentier

  • Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

    Fadi F. Hamdan;Julie Gauthier;Yoichi Araki;Da-Ting Lin

  • Novel de novo SHANK3 mutation in autistic patients.

    Julie Gauthier;Dan Spiegelman;Amélie Piton;Ronald G. Lafrenière

  • Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

    Piton A;Gauthier J;Hamdan Ff;Lafrenière Rg

  • AnnotSV: an integrated tool for structural variations annotation

    Véronique Geoffroy;Yvan Herenger;Arnaud Kress;Corinne Stoetzel

  • Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

    Philip Awadalla;Julie Gauthier;Rachel A. Myers;Rachel A. Myers;Ferran Casals

  • XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

    Amélie Piton;Claire Redin;Claire Redin;Jean-Louis Mandel;Jean-Louis Mandel

  • Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

    Claire Redin;Bénédicte Gérard;Julia Lauer;Yvan Herenger

  • De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

    Fadi F. Hamdan;Hussein Daoud;Daniel Rochefort;Amélie Piton

  • Rare Mutations in N-methyl-D-aspartate Glutamate Receptors in Autism Spectrum Disorders and Schizophrenia

    Tarabeux J;Tarabeux J;Tarabeux J;Kebir O;Kebir O;Gauthier J;Hamdan Ff

  • SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

    Anna Fassio;Lysanne Patry;Sonia Congia;Franco Onofri

  • Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.

    Abdul Noor;Annabel Whibley;Christian R. Marshall;Peter J. Gianakopoulos

  • De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

    Fadi F. Hamdan;Hussein Daoud;Amélie Piton;Julie Gauthier

  • Mutations in the calcium-related gene IL1RAPL1 are associated with autism

    Amélie Piton;Jacques L. Michaud;Huashan Peng;Swaroop Aradhya

  • Gene and Protein Characterization of the Human Glutathione S-Transferase Kappa and Evidence for a Peroxisomal Localization

    Fabrice Morel;Claudine Rauch;Elise Petit;Amélie Piton

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

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

  • De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

    Fadi F. Hamdan;Amélie Piton;Julie Gauthier;Anne Lortie

  • Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

    Holly A.F. Stessman;Marjolein H. Willemsen;Michaela Fenckova;Osnat Penn

  • A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders

    A M Addington;J Gauthier;A Piton;F F Hamdan

  • Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family

    Ozlem Okutman;Jean Muller;Yoni Baert;Munevver Serdarogullari

Frequent Co-Authors

Jean-Louis Mandel
Jean-Louis Mandel Institute of Genetics and Molecular and Cellular Biology
Guy A. Rouleau
Guy A. Rouleau Montreal Neurological Institute and Hospital
Fadi F. Hamdan
Fadi F. Hamdan University of Montreal
Julien Thevenon
Julien Thevenon Centre Hospitalier Universitaire de Grenoble
Laurent Mottron
Laurent Mottron University of Montreal
Gaetan Lesca
Gaetan Lesca Claude Bernard University Lyon 1
Laurence Faivre
Laurence Faivre University of Burgundy
Bertrand Isidor
Bertrand Isidor Centre Hospitalier Universitaire de Nantes
Caroline Nava
Caroline Nava Université Paris Cité
Marie-Odile Krebs
Marie-Odile Krebs Université Paris Cité

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