Guillaume Jouret

Dudelange, ES 3555, Luxembourg

Last Updated: 09/26/2026

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Found 20 publications

Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires.

Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires.

Journal: Orphanet journal of rare diseases

Published: July 21, 2026

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

Journal: Clinical genetics

Published: May 21, 2026

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Journal: Clinical genetics

Published: February 26, 2026

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Journal: Clinical genetics

Published: February 26, 2026

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.

Journal: Research square

Published: January 08, 2026

Heterozygous PRDM9 truncating variant in a patient with primary ovarian insufficiency.

Heterozygous PRDM9 truncating variant in a patient with primary ovarian insufficiency.

Journal: Journal of human genetics

Published: June 03, 2025

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 13, 2025

The pseudouridine synthase PUSL1 modifies U39 of mitochondrial tRNAs and is linked to human neurological phenotypes.

The pseudouridine synthase PUSL1 modifies U39 of mitochondrial tRNAs and is linked to human neurological phenotypes.

Journal: Nucleic acids research

Published: November 12, 2024

Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders.

Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 10, 2024

Natural history of adults with KBG syndrome: A physician-reported experience.

Natural history of adults with KBG syndrome: A physician-reported experience.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 31, 2024

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.

Journal: European journal of human genetics : EJHG

Published: July 07, 2022

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 03, 2022

Showing 1-12 of 20

Last Updated: 09/26/2026