Juliette Dupont

Lisbon, Portugal

Last Updated: 09/26/2026

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Found 23 publications

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.

Journal: JCO precision oncology

Published: April 16, 2026

Episodic Ataxia Associated With Synaptosomal-Associated Protein 25 (SNAP25) Variant: Beyond Epilepsy and Developmental Delay.

Episodic Ataxia Associated With Synaptosomal-Associated Protein 25 (SNAP25) Variant: Beyond Epilepsy and Developmental Delay.

Journal: Cureus

Published: January 29, 2026

Dual genetic diagnosis of Mitchell-Riley syndrome and Temple syndrome in a neonate.

Dual genetic diagnosis of Mitchell-Riley syndrome and Temple syndrome in a neonate.

Journal: Clinical dysmorphology

Published: May 30, 2025

Transition From Children's to Adults' Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN-ITHACA Guideline.

Transition From Children's to Adults' Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN-ITHACA Guideline.

Journal: Journal of intellectual disability research : JIDR

Published: May 13, 2025

The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS).

The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS).

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

Published: August 12, 2024

Genetic modulation of RNA splicing rescues BRCA2 function in mutant cells.

Genetic modulation of RNA splicing rescues BRCA2 function in mutant cells.

Journal: Life science alliance

Published: May 27, 2024

Diversities in Leigh Syndrome Associated with MT-ATP6 Gene Variants.

Diversities in Leigh Syndrome Associated with MT-ATP6 Gene Variants.

Journal: Endocrine, metabolic & immune disorders drug targets

Published: September 06, 2023

GIANT MULTINODULAR GOITER IN COWDEN SYNDROME.

GIANT MULTINODULAR GOITER IN COWDEN SYNDROME.

Journal: Acta endocrinologica (Bucharest, Romania : 2005)

Published: January 26, 2023

New ocular findings in a patient with a novel pathogenic variant in the FBXO11 gene.

New ocular findings in a patient with a novel pathogenic variant in the FBXO11 gene.

Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

Published: February 23, 2022

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.

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

Published: February 14, 2022

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.

Journal: Nature genetics

Published: October 11, 2021

Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders.

Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders.

Journal: Clinical genetics

Published: November 11, 2020

Showing 1-12 of 23

Last Updated: 09/26/2026