Nathalie Drouot

Rouen, 76000, France

Last Updated: 09/26/2026

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Found 45 publications

Correction: DYRK1A roles in human neural progenitors.

Correction: DYRK1A roles in human neural progenitors.

Journal: Frontiers in neuroscience

Published: January 12, 2026

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

Journal: American journal of human genetics

Published: August 13, 2025

DYRK1A roles in human neural progenitors.

DYRK1A roles in human neural progenitors.

Journal: Frontiers in neuroscience

Published: November 23, 2024

Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling.

Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling.

Journal: PLoS genetics

Published: October 29, 2024

Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants.

Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants.

Journal: Genes & diseases

Published: January 23, 2024

Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.

Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.

Journal: Scientific reports

Published: November 28, 2023

Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.

Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: October 18, 2023

High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.

High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.

Journal: Human genetics

Published: January 21, 2023

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.

Journal: Molecular psychiatry

Published: January 12, 2023

Highlighting the Dystonic Phenotype Related to GNAO1.

Highlighting the Dystonic Phenotype Related to GNAO1.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: March 17, 2022

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

Journal: Human mutation

Published: March 11, 2022

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.

Journal: Nature communications

Published: January 28, 2022

Showing 1-12 of 45

Last Updated: 09/26/2026