About
Guillaume Jouret
Dr Guillaume Jouret is a medical doctor and specialist in genetic medicine practising in Luxembourg, registered with the Medical College of the Grand Duchy of Luxembourg. He serves as Acting Head of the Clinical Genetics Service at the National Center of Genetics, Luxembourg National Health Laboratory (LNS), where he cares for patients with genetic diseases and hereditary predisposition syndromes. Alongside his clinical work, he leads international, multicentre collaborative research as a principal investigator, coordinating studies that integrate deep phenotyping with genomic data. His work has contributed to the discovery and characterisation of several newly delineated genetic syndromes. He also participates actively in European translational research initiatives and teaches medical genetics at the University of Luxembourg.
Education & training
A dual medicine–science track.
Medicine
- PCEM1Faculty of Medicine, Marseille, France — ranked 34th of 2,974 medical school students
- SpecialistSpecialised Diploma in Medical Genetics — Faculty of Medicine, Reims (residency track)
- DoctorateDoctoral thesis in Medicine — Clinical and Genomic Characterisation of the New 19p13.3 Microduplication Syndrome. Highest honours, with special commendation from the jury
Sciences
- MasterMaster 1, Biology–Health — Aix-Marseille University, specialising in anthropology, evolution and population genetics
- GrantResearch year grant — interregional selection commission
- MasterMaster 2 Research, Genetics, Genomes and Evolution — Paris-Saclay University, awarded highest distinction (“Mention très bien”)
Experience
Clinical
- 2025 → nowActing Head, Clinical Genetics Service — National Center of Genetics (NCG), LNS, Luxembourg
- 2019 → nowSenior Medical specialist in genetic medicine — National Center of Genetics, Clinical Genetics Unit, LNS, Luxembourg
- 2014–19Specialised medical residency, medical genetics — Medical Genetics Department, Reims University Hospital, Reference Centre for Developmental Disorders and Polymalformative Syndromes
Teaching
- 2022 → nowAdjunct Lecturer — University of Luxembourg. Bioclinical module of medical genetics, Bachelor of Medicine, covering intellectual-disability genetics and dysmorphology
Public health & policy
- 2018–22Member, “Care pathways” working group — National Rare Diseases Plan 2018–2022, Luxembourg Ministry of Health
- 2020–21Co-supervisor, Working Group Axis 2 (genetic counselling & clinical genetics) — National Rare Diseases Plan 2019–2022, Luxembourg Ministry of Health
Research and publications
20 peer-reviewed articles, 2016–2026.
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Articles
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Last author
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Journals
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Collaborators
2026
Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly
Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients
2025
Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis
Heterozygous PRDM9 truncating variant in a patient with primary ovarian insufficiency
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder
2024
Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders
Natural history of adults with KBG syndrome: A physician-reported experience
2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome
2022
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects
Natural history of KBG syndrome in a large European cohort
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
2020
Clinical Genetics of Prolidase Deficiency: An Updated Review
2019
Genetics of Usher Syndrome: New Insights From a Meta-analysis
2016
Crusted scabies: A review
Severe crusted scabies: A “historic” case involving the death of a 52-year-old patient
Talks & recognition
- 2026Poster“Delineation of a novel mirror syndrome: NFIC variants cause syndromic intellectual disability with macrocephaly” — European Society of Human Genetics Annual Meeting (ESHG), Sweden
- 2025Oral“Decoding the Undiagnosed: Syndrome Discovery in the Era of Collaborative Genomics” — Clinical Research Luxembourg Conference, Amphithéâtre CHL Centre, Luxembourg – Luxembourg Institute of Health
- 2025Poster“Prenatal-onset hypertrophic cardiomyopathy in 54 patients with RASopathies: understanding phenotype–genotype correlations for risk stratification, medical management and targeted therapies” — ACMG Annual Clinical Genetics Meeting, Los Angeles
- 2024Oral“Les challenges du diagnostic étiologique génétique devant un retard global des acquisitions en pédiatrie” — Journée Luxembourgeoise de Pédiatrie, MUDAM, Luxembourg
- 2023Oral“Prenatal-onset hypertrophic cardiomyopathy in 47 patients with RASopathies: understanding phenotype–genotype correlations for risk stratification, medical management and targeted therapies” — European Society of Human Genetics Conference, Glasgow (LNS coverage)
- 2023Oral“Les challenges du diagnostic des maladies génétiques rares, de la dysmorphologie à la variation pathogène” — Conférences de l’ANLD, Luxembourg
- 2022Oral“Understanding the new BRD4-related syndrome: clinical and genomic delineation” — 11èmes Assises de Génétique Humaine et Médicale, Rennes (LNS coverage)
- 2022Talk“L’application clinique du diagnostic génétique des maladies rares” — Rencontres Maladies Rares Luxembourg
- 2022Seminar“Retour d’expérience après mise en place du NIPT Whole Genome” — National Center of Genetics, Luxembourg, with Dr Arthur Sorlin (23 Feb 2022)
- 2021Poster“Understanding the new BRD4-related Cornelia de Lange–like syndrome” — European Society of Human Genetics Conference (Early Career Poster Award candidate)
- 2021Talk“Développement du National Center of Genetics et son service de Génétique Clinique” — Presentation of the National Rare Diseases Plan (PNMR) 2018–2022 work, Luxembourg Ministry of Health
- 2020Seminar“From Dysmorphology to Diagnosis” — continuing-education seminar for physicians in specialisation training, CHL Centre, Luxembourg (organised by Dr Armand Biver)
- 2020Oral“Caractérisation clinique et génomique du syndrome microduplicationnel 19p13.3” — Xèmes Assises de Génétique Humaine et Médicale, Tours
- 2019AwardEarly Career Award — Poster Award “Best Clinical Research,” 1st prize among 3,000+ submissions, European Society of Human Genetics Conference, Gothenburg, Sweden
- 2019Poster“Understanding microcephaly/macrocephaly mechanisms in the 19p13.3 syndrome” — European Society of Human Genetics Conference, Gothenburg (“Best Poster Clinical Research”)
- 2019Oral“Les syndromes en miroir de la région 19p13.3 : corrélations génotype-phénotype” — 32ème séminaire de l’AFGC, Lille
- 2018Oral“Le syndrome microduplicationnel 19p13.3 : cartographie des gènes candidats” — XXIVème colloque de l’Association des Cytogénéticiens de Langue Française
- 2017Oral“Syndrome marfanoïde avec déficience intellectuelle : un cas sans diagnostic après séquençage de l’exome” — Les Troisièmes Jeudis de Necker, Institut Imagine, Paris