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D-Index
51
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8142
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3872
National Ranking
58

Overview

Cédric Le Caignec is affiliated with the University Hospital of Lausanne in Switzerland. Their research primarily addresses various aspects of genetics, molecular biology, and related biomedical fields. Their work contributes to understanding genomic variations, chromosomal abnormalities, and the genetic underpinnings of rare and neurodevelopmental disorders.

The main fields of study in which Cédric Le Caignec publishes include Biochemistry, Genetics, and Molecular Biology. Within these fields, key subfields of focus are Genetics, Molecular Biology, Immunology, Cardiology and Cardiovascular Medicine, and Cellular and Molecular Neuroscience.

The scientist's research topics cover a range of areas such as:

  • Genomic variations and chromosomal abnormalities
  • Genomics and rare diseases
  • Genetics and neurodevelopmental disorders
  • Genetic associations and epidemiology
  • Congenital heart defects research
  • Immunodeficiency and autoimmune disorders
  • Genetic and clinical aspects of sex determination and chromosomal abnormalities

Cédric Le Caignec has published extensively in several scientific venues. Frequent publication venues include:

  • The American Journal of Human Genetics
  • American Journal of Medical Genetics Part A
  • European Journal of Human Genetics
  • npj Genomic Medicine
  • bioRxiv (Cold Spring Harbor Laboratory)

Recent papers authored or co-authored by Cédric Le Caignec demonstrate a concentration on the genetic basis of neurodevelopmental and chromosomal disorders, including:

  • Effects of eight neuropsychiatric copy number variants on human brain structure, 2021, Translational Psychiatry
  • Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants, 2023, The American Journal of Human Genetics
  • Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy, 2022, Nature Communications
  • De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas, 2020, The American Journal of Human Genetics
  • Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder, 2021, The American Journal of Human Genetics

The research collaboration network of Cédric Le Caignec includes frequent co-authors such as Bertrand Isidor, Mathilde Nizon, Laurence Faivre, Patrick Callier, and Olivier Pichon. This collaborative dynamic supports an interdisciplinary approach across genetics and clinical research fields.

Best Publications

  • A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

    R. G. Walters;S. Jacquemont;A. Valsesia;A. Valsesia;A. Valsesia;A. J. de Smith

  • Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome

    Nadege Bondurand;Veronique Pingault;Derk E. Goerich;Nicole Lemort

  • SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

    Vincent Probst;Arthur A M Wilde;Julien Barc;Frederic Sacher

  • Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

    Debra D'Angelo;Sébastien Lebon;Qixuan Chen;Sandra Martin-Brevet

  • Single-cell chromosomal imbalances detection by array CGH

    Cedric Le Caignec;Claudia Spits;Karen Sermon;Martine De Rycke

  • Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

    Alexander Pearlman;Johnny Loke;Cedric Le Caignec;Stefan John White

  • Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

    Virpi M. Leppa;Virpi M. Leppa;Stephanie N. Kravitz;Christa Lese Martin;Joris Andrieux

  • USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.

    Yi Heng Hao;Michael D. Fountain;Klementina Fon Tacer;Fan Xia

  • RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

    Emmanuelle Szenker-Ravi;Umut Altunoglu;Marc Leushacke;Célia Bosso-Lefèvre;Célia Bosso-Lefèvre

  • Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

    Lucilla Pizzo;Matthew Jensen;Andrew Polyak;Andrew Polyak;Jill A. Rosenfeld

  • Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

    Julie Demars;Mansur Ennuri Shmela;Sylvie Rossignol;Jun Okabe

  • DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

    Jianling Ji;Hane Lee;Bob Argiropoulos;Naghmeh Dorrani

  • Parallel derivation of isogenic human primed and naive induced pluripotent stem cells

    Stéphanie Kilens;Dimitri Meistermann;Diego Moreno;Caroline Chariau

  • Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

    Graciana Jaureguiberry;Muriel De La Dure-Molla;David Parry;Mickael Quentric

  • Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

    Josefine S Witteveen;Marjolein H Willemsen;Thaís C D Dombroski;Nick H M van Bakel

  • Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

    Allen N. Lamb;Jill A. Rosenfeld;Nicholas J. Neill;Michael E. Talkowski;Michael E. Talkowski

  • The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.

    Loyse Hippolyte;Anne M. Maillard;Borja Rodriguez-Herreros;Aurélie Pain

  • Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

    Justyna A. Karolak;Justyna A. Karolak;Marie Vincent;Gail Deutsch;Tomasz Gambin

  • Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9.

    Claire Lecointre;Olivier Pichon;Antoine Hamel;Yves Heloury

  • 12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

    Julien Thevenon;Patrick Callier;Joris Andrieux;Bruno Delobel

Frequent Co-Authors

Albert David
Albert David University of Nantes
Bertrand Isidor
Bertrand Isidor Centre Hospitalier Universitaire de Nantes
Nick Barker
Nick Barker Agency for Science, Technology and Research
Annick Toutain
Annick Toutain François Rabelais University
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine
Alexandre Reymond
Alexandre Reymond University of Lausanne
Laurence Faivre
Laurence Faivre University of Burgundy
Richard Redon
Richard Redon University of Nantes
Hülya Kayserili
Hülya Kayserili Koç University
Jacques S. Beckmann
Jacques S. Beckmann University of Lausanne

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