Linda Pons

Groupement Hospitalier Est
Saint-claude-de-diray, France

Last Updated: 09/26/2026

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Found 22 publications

Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy.

Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy.

Journal: JAMA ophthalmology

Published: April 09, 2026

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Journal: European journal of human genetics : EJHG

Published: September 19, 2025

B-cell immune deficiency in twin sisters expands the phenotype of MOPDI.

B-cell immune deficiency in twin sisters expands the phenotype of MOPDI.

Journal: Clinical genetics

Published: February 26, 2024

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Journal: European journal of human genetics : EJHG

Published: November 13, 2023

Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.

Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.

Journal: Orphanet journal of rare diseases

Published: October 06, 2023

Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills.

Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills.

Journal: Psychiatric genetics

Published: September 14, 2023

A Novel Leptin Receptor LEPR Variant in a Toddler With Early-Onset Fatal Obesity.

A Novel Leptin Receptor LEPR Variant in a Toddler With Early-Onset Fatal Obesity.

Journal: Pediatrics

Published: March 06, 2023

Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients.

Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients.

Journal: European journal of medical genetics

Published: July 28, 2021

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

Journal: American journal of human genetics

Published: July 31, 2020

Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD.

Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD.

Journal: Molecular autism

Published: July 16, 2020

Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism.

Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism.

Journal: Molecular syndromology

Published: February 24, 2020

Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.

Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.

Journal: European journal of medical genetics

Published: October 31, 2019

Showing 1-12 of 22

Last Updated: 09/26/2026