Guillaume Jouret

Conferences in pictures

Eleven moments from 2019 to 2026: congress talks and posters, an award, and two announcements by the LNS. Scroll sideways, use the arrows, or pick a year.

201920202022202320252026

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June 2019Award

Early Career Award · Best Clinical Research poster

European Society of Human Genetics Conference · Gothenburg

First prize in clinical research among more than 3,000 submissions, for the poster on microcephaly and macrocephaly mechanisms in the 19p13.3 syndrome.

Official ESHG page ↗

January 2020Oral

Clinical and genomic characterisation of the 19p13.3 microduplication syndrome

Xèmes Assises de Génétique Humaine et Médicale · Tours

The founding cohort of the new syndrome, presented from the medical thesis work.

Read the LNS article ↗

2020Seminar

From Dysmorphology to Diagnosis

Dysmorphology seminar, CHL Centre · Luxembourg

Continuing-education seminar for physicians in specialisation training, organised by Dr Armand Biver.

Read the LNS article ↗

2022Oral

Understanding the new BRD4-related syndrome

11èmes Assises de Génétique Humaine et Médicale · Rennes

Clinical and genomic delineation with an international cohort study; the National Center of Genetics represented Luxembourg.

Read the LNS article ↗

June 2023Oral

Prenatal-onset hypertrophic cardiomyopathy in 47 patients with RASopathies

European Society of Human Genetics Conference · Glasgow

Phenotype–genotype correlations for risk stratification, medical management and targeted therapies.

Read the LNS article ↗

7 December 2023Talk

The challenges of diagnosing rare genetic diseases

Conférences de l’ANLD · Luxembourg

From dysmorphology to the pathogenic variant, for the Association Nationale des Laborantins Diplômés.

Conference page ↗

March 2025Poster

Prenatal-onset hypertrophic cardiomyopathy in 54 patients with RASopathies

ACMG Annual Clinical Genetics Meeting · Los Angeles

Cohort extended to 54 patients: genotype–phenotype correlations for risk stratification and targeted therapies.

ACMG abstract ↗

1 October 2025Publication

Discovery of a new syndrome associated with the XPO1 gene

LNS – Laboratoire national de santé · Luxembourg

LNS announcement of the international study led by Richard van Jaarsveld describing the XPO1-related neurodevelopmental disorder (Genetics in Medicine, PMID 40819229). Visual: LNS.

LNS post on LinkedIn ↗

12 November 2025Oral

Decoding the Undiagnosed: Syndrome Discovery in the Era of Collaborative Genomics

Clinical Research Luxembourg Conference · Luxembourg

Conference organised by the Luxembourg Institute of Health, CHL Centre auditorium.

Abstract and biosketch ↗

June 2026Poster

Delineation of a novel mirror syndrome: NFIC variants cause syndromic intellectual disability with macrocephaly

European Society of Human Genetics Annual Meeting · Sweden

Last-author work with N. Vanden Eynde, L. Hérissant, E. Landais and an international consortium of 39 co-authors, published in Clinical Genetics (2026).

Published article ↗

11 August 2026Publication

A new neurodevelopmental syndrome linked to the NFIC gene

Clinical Genetics Service, LNS · Luxembourg

From left to right: Dr Guillaume Jouret, Dr Nathalie Vanden Eynde and Lucas Hérissant, PhD, the LNS team behind the NFIC syndrome description with ERN ITHACA. Photo: LNS.

LNS post on LinkedIn ↗

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Research and publications

21 peer-reviewed articles, 2016–2026.

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

Essays on Genes.media

Longer, sourced essays written for a general audience, in French — each one tied to an area of the clinical and research work above.

• NeurodevelopmentUn feu d’artifice de 700 000 synapses par seconde

  Pourquoi le cerveau humain naît inachevé : l’hypothèse métabolique de Holly Dunsworth.

• Rare diseaseLes deux femmes qui ont sauvé les clones

  Doudna, Charpentier et CRISPR-Cas9 : la variation redevenue contrôlable.

• Genome ethicsLa Convention d’Oviedo : un univers de possibilités

  Le texte qui interdit les modifications héréditaires du génome, quinze ans avant CRISPR.

• Human evolutionLa fin de l’avant-dernier représentant du genre Homo

  Pourquoi Néandertal s’est éteint, et pourquoi Sapiens n’en est peut-être pas coupable.

• ReproductionUn monde périlleux pour les spermatozoïdes

  Deux fois moins de spermatozoïdes qu’en 1970 : ce que montrent Skakkebaek et Levine.

• AnthropoceneAnthropocène, partie I : l’origine

  De Stoppani à Crutzen : d’où vient le concept, et où placer sa borne inférieure.

Two interactive timelines extend the same work: Deep Time, 4.54 billion years of Earth and life, and Sapiens, 300,000 years of us.

Elsewhere