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Jean-Louis Blouin

Jean-Louis Blouin

D-Index & Metrics

Genetics

D-Index
50
Citations
10254
World Ranking
3923
National Ranking
61

Overview

Jean-Louis Blouin is affiliated with the University of Geneva in Switzerland and has a research focus primarily in the fields of Medicine and Biochemistry, Genetics and Molecular Biology. Their work spans multiple subfields including Genetics, Molecular Biology, Surgery, Pediatrics, Perinatology and Child Health, as well as Psychiatry and Mental Health.

The main topics explored in Blouin's research encompass pancreatic function and diabetes, genetics and neurodevelopmental disorders, diabetes and associated disorders, dementia and cognitive impairment research, cellular transport and secretion, prenatal screening and diagnostics, and congenital heart defects research.

Blouin's recent published papers include:

  • A peripheral signature of Alzheimer's disease featuring microbiota-gut-brain axis markers (2023) in Alzheimer s Research & Therapy
  • Systematic Genetic Study of Youth With Diabetes in a Single Country Reveals the Prevalence of Diabetes Subtypes, Novel Candidate Genes, and Response to Precision Therapy (2020) in Diabetes
  • Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients (2021) in Human Mutation
  • Precision medicine in diabetes: A non-invasive prenatal diagnostic test for the determination of fetal glucokinase mutations (2021) in Journal of Diabetes Investigation
  • Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene (2021) in Clinical Genetics

Frequent co-authors in Blouin's publications are:

  • Thierry Nouspikel
  • Marc Abramowicz
  • Valérie Schwitzgebel
  • Giovanni B. Frisoni
  • Federica Ribaldi

The most common publication venues for Blouin include:

  • Clinical Genetics
  • Alzheimer s & Dementia
  • Alzheimer s Research & Therapy
  • Diabetes
  • Human Mutation

Best Publications

  • Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part II: Schizophrenia

    Cathryn M. Lewis;Douglas F. Levinson;Lesley H. Wise;Lynn E. DeLisi

  • Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21

    Jean Louis Blouin;Beth A. Dombroski;Swapan K. Nath;Virginia K. Lasseter

  • Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder.

    Ricardo Segurado;Sevilla D. Detera-Wadleigh;Douglas F. Levinson;Cathryn M. Lewis

  • Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

    Lucia Bartoloni;Jean-Louis Blouin;Yanzhen Pan;Corinne Gehrig

  • DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects

    Nada Hornef;Heike Olbrich;Judit Horvath;Maimoona B Zariwala

  • Schizophrenia: a genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes.

    Ann E. Pulver;Virginia K. Lasseter;Laura Kasch;Paula Wolyniec

  • Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.

    Z Rahmani;J L Blouin;N Creau-Goldberg;P C Watkins

  • Primary Ciliary Dyskinesia Associated With Normal Axoneme Ultrastructure Is Caused by DNAH11 Mutations

    Georg C. Schwabe;Katrin Hoffmann;Niki Tomas Loges;Daniel Birker

  • Loss of LKB1 Kinase Activity in Peutz-Jeghers Syndrome, and Evidence for Allelic and Locus Heterogeneity

    Hamid Mehenni;Corinne Gehrig;Jun-ichi Nezu;Asuka Oku

  • Multicenter Linkage Study of Schizophrenia Candidate Regions on Chromosomes 5q, 6q, 10p, and 13q: Schizophrenia Linkage Collaborative Group III

    Douglas F. Levinson;Peter Holmans;Richard E. Straub;Michael J. Owen

  • Additional support for schizophrenia linkage on chromosomes 6 and 8: A multicenter study

    Dieter B. Wildenauer;Sibylle G. Schwab;Margot Albus;Joachim Hallmayer

  • The Phenotypic Spectrum of GLI3 Morphopathies Includes Autosomal Dominant Preaxial Polydactyly Type-IV and Postaxial Polydactyly Type-A/B; No Phenotype Prediction from the Position of GLI3 Mutations

    Uppala Radhakrishna;Dorothea Bornholdt;Hamish S. Scott;Uday C. Patel

  • Genetic variability of the μ-opioid receptor influences intrathecal fentanyl analgesia requirements in laboring women

    Ruth Landau;Christian Kern;Malachy O. Columb;Richard M. Smiley

  • 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

  • Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

    J L Blouin;M Meeks;U Radhakrishna;A Sainsbury

  • Schizophrenia susceptibility and chromosome 6p24–22

    Stylianos Antonarakis;Jean-Louis Blouin;A. E. Pulver;P. Wolyniec

  • Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4.

    Hamid Mehenni;Jean-Louis Blouin;Uppala Radhakrishna;Shiv Shanker Bhardwaj

  • Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age.

    Stylianos E. Antonarakis;Dimitrios Avramopoulos;Jean Louis Blouin;C. Conover Talbot

  • X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

    Chiara Olcese;Chiara Olcese;Mitali P. Patel;Amelia Shoemark;Santeri Kiviluoto

  • Primary Ciliary Dyskinesia: A genome-wide linkage analysis reveals extensive locus heterogeneity.

    JL Blouin;U Radhakrishna;C Gehrig;GD Sail

Frequent Co-Authors

Stylianos E. Antonarakis
Stylianos E. Antonarakis University of Geneva
Ann E. Pulver
Ann E. Pulver Johns Hopkins University School of Medicine
Colette Rossier
Colette Rossier University of Geneva
Michel Guipponi
Michel Guipponi University of Geneva
Haig H. Kazazian
Haig H. Kazazian Johns Hopkins University School of Medicine
Robert Lyle
Robert Lyle Oslo University Hospital
Gerald Nestadt
Gerald Nestadt Johns Hopkins University School of Medicine
Dimitrios Avramopoulos
Dimitrios Avramopoulos Johns Hopkins University School of Medicine
Aravinda Chakravarti
Aravinda Chakravarti New York University Langone Medical Center

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