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Laurent Pasquier

Laurent Pasquier

D-Index & Metrics

Genetics

D-Index
55
Citations
8710
World Ranking
3596
National Ranking
184

Overview

Laurent Pasquier is affiliated with the University of Rennes in France and has contributed extensively to the fields of biochemistry, genetics, and molecular biology, with a particular focus on genetics within those domains. Their work spans medicine, pediatrics, perinatology, child health, public health, environmental and occupational health, as well as obstetrics and gynecology.

The scientist's research addresses a range of topics, including genomics and rare diseases, genomic variations and chromosomal abnormalities, genetics in neurodevelopmental disorders, congenital heart defects, prenatal screening and diagnostics, metabolism, genetic disorders, and gynecological conditions and treatments.

Laurent Pasquier's publication record includes contributions to journals such as:

  • European Journal of Human Genetics
  • Journal of Medical Genetics
  • Genetics in Medicine
  • European Journal of Medical Genetics
  • Clinical Genetics

Recent papers illustrate the scope of their work:

  • GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome, 2020, Clinical Genetics
  • Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player, 2020, Human Genetics
  • Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules, 2024, Science
  • Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy, 2020, Human Mutation
  • Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder, 2021, Genetics in Medicine

They have collaborated frequently with colleagues such as Sylvie Odent, Mélanie Fradin, Bertrand Isidor, Chloé Quēlin, and Christèle Dubourg.

Best Publications

  • Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

    Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood

  • Holoprosencephaly. Orphanet J Rare Dis 2:8

    Dubourg C;Bendavid C;Pasquier L;Henry C

  • A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

    Flore Zufferey;Elliott H. Sherr;Noam D. Beckmann;Ellen Hanson

  • Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

    Karine Poirier;Karine Poirier;David A. Keays;Fiona Francis;Fiona Francis;Yoann Saillour;Yoann Saillour

  • NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype†

    Eric Pasmant;Audrey Sabbagh;Gillian Spurlock;Ingrid Laurendeau

  • Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

    V. Laugel;C. Dalloz;M. Durand;F. Sauvanaud

  • The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina) – phenotypic manifestations and genetic approaches

    Daniel Guerrier;Thomas Mouchel;Laurent Pasquier;Isabelle Pellerin

  • Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.

    Christèle Dubourg;Leïla Lazaro;Laurent Pasquier;Claude Bendavid

  • De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

    Sébastien Küry;Geeske M van Woerden;Thomas Besnard;Martina Proietti Onori

  • Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

    Marie Vincent;David Geneviève;Agnès Ostertag;Sandrine Marlin

  • Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

    Loïc de Pontual;Yves Mathieu;Christelle Golzio;Marlène Rio

  • The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

    Christel Thauvin-Robinet;Jaclyn S Lee;Estelle Lopez;Vicente Herranz-Pérez

  • Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A

    Catherine Fallet-Bianco;Laurence Loeuillet;Karine Poirier;Philippe Loget

  • Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.

    Caroline Schluth-Bolard;Bruno Delobel;Damien Sanlaville;Odile Boute

  • New insights into genotype-phenotype correlation for GLI3 mutations.

    Florence Démurger;Amale Ichkou;Soumaya Mougou-Zerelli;Martine Le Merrer

  • Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

    Frédérique Sloan Bena;Damien L Bruno;Mats Eriksson;Conny van Ravenswaaij-Arts

  • New findings for phenotype–genotype correlations in a large European series of holoprosencephaly cases

    Sandra Mercier;Christèle Dubourg;Nicolas Garcelon;Boris Campillo-Gimenez

  • The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

    Pleuntje J van der Sluijs;Sandra Jansen;Samantha A Vergano;Miho Adachi-Fukuda

  • Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases

    Laurent Pasquier;Pascale Marcorelles;Philippe Loget;Fanny Pelluard

  • NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat 31:E1506-E1518

    Eric Pasmant;Audrey Sabbagh;Gill Spurlock;Ingrid Laurendeau

Frequent Co-Authors

Sylvie Odent
Sylvie Odent University of Rennes
Christèle Dubourg
Christèle Dubourg University of Rennes
Véronique David
Véronique David Université de Rennes
Bertrand Isidor
Bertrand Isidor Centre Hospitalier Universitaire de Nantes
Laurence Faivre
Laurence Faivre University of Burgundy
Annick Toutain
Annick Toutain François Rabelais University
Tania Attié-Bitach
Tania Attié-Bitach Université Paris Cité
Valérie Cormier-Daire
Valérie Cormier-Daire Necker-Enfants Malades Hospital
Didier Lacombe
Didier Lacombe University of Bordeaux
Albert David
Albert David University of Nantes

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