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Genetics
France
2024
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Genetics and Molecular Biology
France
2024

D-Index & Metrics

Genetics

D-Index
88
Citations
26764
World Ranking
1175
National Ranking
41

Research.com Recognitions

  • 2024 - Research.com Genetics in France Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in France Leader Award

Overview

Didier Lacombe is a researcher affiliated with the University of Bordeaux in France. Their work spans multiple fields, primarily focusing on biochemistry, genetics, and molecular biology, with 159 publications in these areas. Additionally, Lacombe has contributed to medicine, with 75 publications related to this field.

Their subfield expertise includes molecular biology and genetics, each with 68 publications, followed by physiology with 17 publications, surgery with 11, and cell biology with 9. Lacombe's main research topics concentrate on genetics and neurodevelopmental disorders, genomics and rare diseases, and lysosomal storage disorders research, alongside studies in genomic variations and chromosomal abnormalities, mitochondrial function and pathology, congenital limb and hand anomalies, and epigenetics and DNA methylation.

Notable recent papers authored or co-authored by Lacombe include:

  • Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders, 2020, The American Journal of Human Genetics
  • Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease, 2021, Clinical Genetics
  • Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder, 2021, Genes
  • BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome, 2020, Genetics in Medicine
  • Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita, 2021, Journal of Medical Genetics

Lacombe frequently publishes in specific scientific journals, with the most publications in the following venues:

  • Clinical Genetics (9 publications)
  • European Journal of Human Genetics (8 publications)
  • Journal of Medical Genetics (7 publications)
  • European Journal of Medical Genetics (4 publications)
  • Orphanet Journal of Rare Diseases (4 publications)

Their collaborative network includes co-authors such as Julien Van-Gils, Laurence Faivre, David Geneviève, Aurélien Trimouille, and Patricia Fergelot, with collaboration counts ranging from 13 to 21 publications per co-author.

Best Publications

  • LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

    Y. Q. Gong;R. B. Slee;N. Fukai;G. Rawadi

  • Mutation Spectrum and Genotype-Phenotype Analyses in Cowden Disease and Bannayan-Zonana Syndrome, Two Hamartoma Syndromes With Germline PTEN Mutation

    Debbie J. Marsh;Valérie Coulon;Kathryn L. Lunetta;Philippe Rocca-Serra

  • Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

    Yanick J Crow;Yanick J Crow;Andrea Leitch;Bruce E Hayward;Anna Garner

  • A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

    Abdelhak S;Kalatzis;Heilig R;Compain S

  • Mutations in TUBG1 , DYNC1H1 , KIF5C and KIF2A cause malformations of cortical development and microcephaly

    Karine Poirier;Nicolas Lebrun;Nicolas Lebrun;Loic Broix;Loic Broix;Guoling Tian

  • Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

    Gillian Rice;Teresa Patrick;Rekha Parmar;Claire F Taylor

  • Mutations in LRP2 , which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

    Sibel Kantarci;Lihadh Al-Gazali;R Sean Hill;R Sean Hill;Dian Donnai

  • BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

    Corinne Stoetzel;Virginie Laurier;Erica E. Davis;Jean Muller

  • Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

    David Attias;Chantal Stheneur;Carine Roy;Gwenaëlle Collod-Béroud

  • Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

    Caroline Nava;Nadine Hanna;Caroline Michot;Sabrina Pereira

  • SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

    Sébastien Albert;Hélène Blons;Laurence Jonard;Delphine Feldmann

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

    Claire Redin;Bénédicte Gérard;Julia Lauer;Yvan Herenger

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

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

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

    Eric Pasmant;Audrey Sabbagh;Gillian Spurlock;Ingrid Laurendeau

  • Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

    Jeanne Amiel;Tania Attié;Dominique Jan;Anna Pelet

  • Five new TTF1/NKX2.1 mutations in brain–lung–thyroid syndrome: rescue by PAX8 synergism in one case

    Aurore Carré;Gabor Szinnai;Mireille Castanet;Mireille Castanet;Sylvia Sura-Trueba

  • Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

    F. Laumonnier;S. Holbert;N. Ronce;F. Faravelli

  • Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

    B. Kerr;M. A. Delrue;S. Sigaudy;R. Perveen

  • Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

    Erfan Aref-Eshghi;Jennifer Kerkhof;Victor P. Pedro

  • 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

Benoit Arveiler
Benoit Arveiler University of Bordeaux
Laurence Faivre
Laurence Faivre University of Burgundy
Alain Verloes
Alain Verloes Université Paris Cité
Annick Toutain
Annick Toutain François Rabelais University
Stanislas Lyonnet
Stanislas Lyonnet Université Paris Cité
Valérie Cormier-Daire
Valérie Cormier-Daire Necker-Enfants Malades Hospital
Albert David
Albert David University of Nantes
Sylvie Odent
Sylvie Odent University of Rennes
Delphine Héron
Delphine Héron Sorbonne University
Tania Attié-Bitach
Tania Attié-Bitach Université Paris Cité

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