World's Best Scientists 2026 revealed!
Stanislas Lyonnet

Stanislas Lyonnet

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Genetics
France
2026
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Genetics and Molecular Biology
France
2024

D-Index & Metrics

Genetics

D-Index
109
Citations
42582
World Ranking
552
National Ranking
11

Medicine

D-Index
111
Citations
45031
World Ranking
5337
National Ranking
150

Research.com Recognitions

  • 2026 - Research.com Genetics in France Leader Award
  • 2025 - Research.com Genetics in France Leader Award
  • 2024 - Research.com Genetics in France Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in France Leader Award
  • 2023 - Research.com Genetics and Molecular Biology in France Leader Award
  • 2022 - Research.com Genetics and Molecular Biology in France Leader Award

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

His main research concerns Genetics, Mutation, Internal medicine, Gene and Endocrinology. His study in Locus, Penetrance, Missense mutation, Candidate gene and Proto-Oncogene Proteins c-ret falls within the category of Genetics. His Mutation research includes elements of Immunology, Gene mapping and Congenital central hypoventilation syndrome.

The study incorporates disciplines such as Gastroenterology, Pediatrics, Overgrowth syndrome and Cardiology in addition to Internal medicine. His Gene research focuses on Disease and how it connects with DNA sequencing, Systems biology and Common disease-common variant. The study incorporates disciplines such as Phenotype and Cancer research in addition to Glial cell line-derived neurotrophic factor.

His most cited work include:

  • Lamin a truncation in hutchinson-gilford progeria (1073 citations)
  • Hirschsprung disease, associated syndromes and genetics: a review (898 citations)
  • Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury ( T ) gene family (787 citations)

What are the main themes of his work throughout his whole career to date?

Stanislas Lyonnet mostly deals with Genetics, Internal medicine, Gene, Phenotype and Mutation. His work on Genetics deals in particular with Locus, Missense mutation, Allele, Genetic heterogeneity and Exome sequencing. His Locus study combines topics in areas such as Gene mapping, Genetic linkage and Haplotype.

The various areas that Stanislas Lyonnet examines in his Internal medicine study include Gastroenterology, Endocrinology and Cardiology. Stanislas Lyonnet regularly ties together related areas like Molecular biology in his Gene studies. His studies link Pathology with Phenotype.

He most often published in these fields:

  • Genetics (74.82%)
  • Internal medicine (24.47%)
  • Gene (20.21%)

What were the highlights of his more recent work (between 2014-2021)?

  • Genetics (74.82%)
  • Missense mutation (19.15%)
  • Phenotype (23.23%)

In recent papers he was focusing on the following fields of study:

His primary areas of investigation include Genetics, Missense mutation, Phenotype, Internal medicine and Mutation. Exome sequencing, Intellectual disability, Gene, Exome and Allele are the primary areas of interest in his Genetics study. His Intellectual disability study combines topics from a wide range of disciplines, such as Loss function, Proband, Haploinsufficiency, Genetic heterogeneity and Penetrance.

His Missense mutation research is multidisciplinary, incorporating elements of Pathology, Neurodevelopmental disorder, Cilium, Ciliopathy and Epigenetics. The concepts of his Phenotype study are interwoven with issues in Kabuki syndrome, Craniofacial and Spliceosome. His studies deal with areas such as Gastroenterology, Endocrinology and Cardiology as well as Internal medicine.

Between 2014 and 2021, his most popular works were:

  • Targeted therapy in patients with PIK3CA-related overgrowth syndrome (142 citations)
  • Targeted therapy in patients with PIK3CA-related overgrowth syndrome (142 citations)
  • Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders (78 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • Genetics

Stanislas Lyonnet mainly focuses on Genetics, Phenotype, Mutation, Missense mutation and Genome-wide association study. His Allele, Medical genetics, Microcephaly, Intellectual disability and Zebrafish study are his primary interests in Genetics. His Phenotype study incorporates themes from Spliceosome and Pathology.

His Mutation research includes elements of Kabuki syndrome, Cerebellar ataxia and PAX6. His work in Cerebellar ataxia addresses issues such as Endocrinology, which are connected to fields such as Internal medicine. His research investigates the link between Genome-wide association study and topics such as Exome that cross with problems in Bioinformatics, Autism, Autism spectrum disorder, Penetrance and Genetic heterogeneity.

Best Publications

  • Lamin a truncation in hutchinson-gilford progeria

    Annachiara De Sandre-Giovannoli;Rafaëlle Bernard;Pierre Cau;Claire Navarro

  • Hirschsprung disease, associated syndromes and genetics: a review

    Jeanne Amiel;Stanislas Lyonnet

  • Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury ( T ) gene family

    Li Qy;Newbury-Ecob Ra;Newbury-Ecob Ra;Terrett Ja;Wilson Di

  • Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma

    Isabelle Janoueix-Lerosey;Delphine Lequin;Delphine Lequin;Laurence Brugières;Agnès Ribeiro

  • Mutations of the RET proto-oncogene in Hirschsprung's disease

    Patrick Edery;Stanislas Lyonnet;Lois M. Mulligan;Anna Pelet

  • SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

    Véronique Pingault;Nadège Bondurand;Kirsten Kuhlbrodt;Derk E. Goerich

  • Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

    Jeanne Amiel;Béatrice Laudier;Tania Attié-Bitach;Ha Trang

  • Autoantibodies neutralizing type I IFNs are present in ~ 4% of uninfected individuals over 70 years old and account for ~ 20% of COVID-19 deaths.

    Paul Bastard;Adrian Gervais;Adrian Gervais;Tom Le Voyer;Tom Le Voyer;Jérémie Rosain;Jérémie Rosain

  • Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

    Patrick Edery;Tania Attie;Jeanne Amiel;Anna Pelet

  • Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells

    Ludovic de Beaucoudrey;Ludovic de Beaucoudrey;Anne Puel;Anne Puel;Orchidée Filipe-Santos;Orchidée Filipe-Santos;Aurélie Cobat;Aurélie Cobat

  • Targeted therapy in patients with PIK3CA-related overgrowth syndrome

    Quitterie Venot;Thomas Blanc;Thomas Blanc;Thomas Blanc;Smail Hadj Rabia;Smail Hadj Rabia;Laureline Berteloot

  • Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

    Sabina Benko;Judy A. Fantes;Jeanne Amiel;Dirk Jan Kleinjan

  • miR-122, a paradigm for the role of microRNAs in the liver

    Muriel Girard;Muriel Girard;Muriel Girard;Emmanuel Jacquemin;Arnold Munnich;Arnold Munnich;Arnold Munnich;Stanislas Lyonnet;Stanislas Lyonnet;Stanislas Lyonnet

  • Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease

    Smail Hadj-Rabia;Lekbir Baala;Pierre Vabres;Dominique Hamel-Teillac

  • Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)

    P. J. Ferguson;S. Chen;M. K. Tayeh;L. Ochoa

  • Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

    Delphine Trochet;Franck Bourdeaut;Isabelle Janoueix-Lerosey;Anne Deville

  • Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

    Jeanne Amiel;Marlène Rio;Loïc de Pontual;Richard Redon

  • Array‐based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

    M-L Jacquemont;D Sanlaville;R Redon;O Raoul

  • Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

    Tania Attié;Anna Pelet;Patrick Edery;Charis Eng;Charis Eng

  • Germline deletion of the miR-17 ∼ 92 cluster causes skeletal and growth defects in humans

    Loïc de Pontual;Loïc de Pontual;Evelyn Yao;Patrick Callier;Laurence Faivre

Frequent Co-Authors

Jeanne Amiel
Jeanne Amiel Université Paris Cité
Arnold Munnich
Arnold Munnich Necker-Enfants Malades Hospital
Michel Vekemans
Michel Vekemans Université Paris Cité
Valérie Cormier-Daire
Valérie Cormier-Daire Necker-Enfants Malades Hospital
Tania Attié-Bitach
Tania Attié-Bitach Université Paris Cité
Laurence Faivre
Laurence Faivre University of Burgundy
Nathalie Boddaert
Nathalie Boddaert Université Paris Cité
Patrick Nitschke
Patrick Nitschke Université Paris Cité
Didier Lacombe
Didier Lacombe University of Bordeaux
Damien Bonnet
Damien Bonnet Université Paris Cité

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