Aurelia Jacquette

Alencon, France

Last Updated: 09/26/2026

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Found 34 publications

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 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

Further phenotypical delineation of DLG3-related neurodevelopmental disorders.

Further phenotypical delineation of DLG3-related neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: February 10, 2025

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.

Journal: European journal of human genetics : EJHG

Published: April 01, 2021

Growth charts in Kabuki syndrome 1.

Growth charts in Kabuki syndrome 1.

Journal: American journal of medical genetics. Part A

Published: September 11, 2019

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Journal: Journal of medical genetics

Published: July 16, 2019

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Journal: NPJ genomic medicine

Published: July 10, 2019

Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.

Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.

Journal: American journal of medical genetics. Part A

Published: April 04, 2019

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.

Journal: Neurology

Published: November 16, 2017

Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity?

Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity?

Journal: Neuromuscular disorders : NMD

Published: September 28, 2017

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: July 21, 2017

Showing 1-12 of 34

Last Updated: 09/26/2026