Nathalie Marle

Dijon, France

Last Updated: 09/26/2026

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Found 50 publications

Artificial Intelligence and Chromothripsis.

Artificial Intelligence and Chromothripsis.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: August 30, 2025

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Journal: Journal of medical genetics

Published: July 08, 2025

Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort.

Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort.

Journal: Molecular autism

Published: March 23, 2025

CNV-Hub: an integrated web-based platform for CNV classification and interpretation using multi-algorithm consensus.

CNV-Hub: an integrated web-based platform for CNV classification and interpretation using multi-algorithm consensus.

Journal: NAR genomics and bioinformatics

Published: March 13, 2025

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: medRxiv : the preprint server for health sciences

Published: September 10, 2024

First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende-Gupta and 22q11.2 Deletion Syndromes.

First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende-Gupta and 22q11.2 Deletion Syndromes.

Journal: Molecular genetics & genomic medicine

Published: August 27, 2024

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: Cell

Published: August 19, 2024

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Journal: The Journal of clinical investigation

Published: April 26, 2024

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

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

Published: March 20, 2024

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

Journal: Clinical genetics

Published: December 23, 2022

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

Journal: American journal of human genetics

Published: December 14, 2022

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.

Journal: Frontiers in genetics

Published: November 16, 2022

Showing 1-12 of 50

Last Updated: 09/26/2026