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Genetics

D-Index
50
Citations
11740
World Ranking
3910
National Ranking
60

Overview

Michel Guipponi is affiliated with the University of Geneva in Switzerland and has a research focus within the fields of Biochemistry, Genetics, and Molecular Biology, as well as Medicine. Their work spans several specialized subfields, including Molecular Biology, Genetics, Cellular and Molecular Neuroscience, Cell Biology, and Neurology.

The scientist has contributed notably to topics such as Genetics and Neurodevelopmental Disorders, Genomic Variations and Chromosomal Abnormalities, RNA and Protein Synthesis Mechanisms, Cellular Transport and Secretion, RNA Regulation and Disease, Congenital Heart Defects Research, and Blood Properties and Coagulation.

Michel Guipponi has published frequently in several scientific journals, with recurring appearances in the American Journal of Medical Genetics Part A, as well as publications in bioRxiv (Cold Spring Harbor Laboratory), The American Journal of Human Genetics, Human Mutation, and Genes.

Their recent papers include:

  • Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome), 2020, American Journal of Medical Genetics Part A
  • Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome, 2022, The American Journal of Human Genetics
  • Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients, 2021, Human Mutation
  • Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss, 2021, Genes
  • LARS2-Perrault syndrome: a new case report and literature review, 2020, BMC Medical Genetics

Collaboration is a significant part of Guipponi's research, with frequent co-authors including Marc Abramowicz, Sacha Laurent, Maria Teresa Carminho-Rodrigues, Hélène Cao Van, and Ariane Paoloni-Giacobino.

Best Publications

  • A mega-analysis of genome-wide association studies for major depressive disorder

    Stephan Ripke;Naomi R Wray;Cathryn M Lewis;Steven P Hamilton

  • 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

    Ingo Helbig;Heather C. Mefford;Andrew J. Sharp;Michel Guipponi

  • Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

    Heather C. Mefford;Hiltrud Muhle;Philipp Ostertag;Sarah von Spiczak

  • Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma

    Sergey Igorievich Nikolaev;Donata Rimoldi;Christian Iseli;Christian Iseli;Armand Valsesia;Armand Valsesia;Armand Valsesia

  • Passive and active DNA methylation and the interplay with genetic variation in gene regulation

    Maria Gutierrez-Arcelus;Maria Gutierrez-Arcelus;Tuuli Lappalainen;Tuuli Lappalainen;Stephen B Montgomery;Stephen B Montgomery;Alfonso Buil;Alfonso Buil

  • Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP

    Natasha K. Hussain;Sarah Jenna;Michael Glogauer;Christopher C. Quinn

  • Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma

    Ximena Bonilla;Laurent Parmentier;Bryan King;Fedor Bezrukov;Fedor Bezrukov

  • Prevalence and heritability of compulsive hoarding: a twin study.

    Alessandra C. Iervolino;Nader Perroud;Miguel Angel Fullana;Michel Guipponi

  • Domains of genome-wide gene expression dysregulation in Down/'s syndrome

    Audrey Letourneau;Federico A. Santoni;Ximena Bonilla;M. Reza Sailani

  • Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

    Hamish S. Scott;Hamish S. Scott;Jun Kudoh;Marie Wattenhofer;Kazunori Shibuya

  • Contribution of Common Genetic Variants to Antidepressant Response

    Katherine E. Tansey;Michel Guipponi;Xiaolan Hu;Enrico Domenici;Enrico Domenici

  • The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro

    Michel Guipponi;Grégoire Vuagniaux;Marie Wattenhofer;Kazunori Shibuya

  • Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing

    Maria Gutierrez-Arcelus;Halit Ongen;Tuuli Lappalainen;Stephen B. Montgomery

  • Identification of a New Locus for Generalized Epilepsy with Febrile Seizures Plus (GEFS+) on Chromosome 2q24-q33

    Bruno Moulard;Michel Guipponi;Denys Chaigne;Dominique Mouthon

  • Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

    Daniel J. Moore;Alexandros Onoufriadis;Amelia Shoemark;Michael A. Simpson

  • TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm

    Alberto De Iaco;Federico A. Santoni;Anne Vannier;Michel Guipponi

  • Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

    Youssef Hibaoui;Youssef Hibaoui;Iwona Grad;Audrey Letourneau;M Reza Sailani

  • Identification of additional transcripts in the Williams-Beuren syndrome critical region.

    Giuseppe Merla;Catherine Ucla;Michel Guipponi;Alexandre Reymond

  • Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

    Michael Steffens;Costin Leu

  • A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

    Elisa Giorgio;Daniel Robyr;Malte Spielmann;Enza Ferrero

Frequent Co-Authors

Stylianos E. Antonarakis
Stylianos E. Antonarakis University of Geneva
Hamish S. Scott
Hamish S. Scott University of Adelaide
Colette Rossier
Colette Rossier University of Geneva
Jean-Louis Blouin
Jean-Louis Blouin University of Geneva
Alexandre Reymond
Alexandre Reymond University of Lausanne
Christelle Borel
Christelle Borel University of Geneva
Nader Perroud
Nader Perroud University of Geneva
Rudolf Uher
Rudolf Uher Dalhousie University
Emmanouil T. Dermitzakis
Emmanouil T. Dermitzakis University of Geneva
Ian W. Craig
Ian W. Craig King's College London

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