Alice Goldenberg

Rouen, France

Last Updated: 09/26/2026

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Found 153 publications

Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires.

Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires.

Journal: Orphanet journal of rare diseases

Published: July 21, 2026

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Journal: Neurology

Published: May 26, 2026

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

Journal: European journal of human genetics : EJHG

Published: December 09, 2025

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 19, 2025

Insights from the LysoNeo prospective cohort study to improve newborn screening of lysosomal diseases.

Insights from the LysoNeo prospective cohort study to improve newborn screening of lysosomal diseases.

Journal: Communications medicine

Published: September 16, 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: 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

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

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Journal: Heart rhythm

Published: July 15, 2025

Truncating Variants in KIF5C Cause a Milder Disorder Distinct From KIF5C-Associated Cortical Dysplasia.

Truncating Variants in KIF5C Cause a Milder Disorder Distinct From KIF5C-Associated Cortical Dysplasia.

Journal: Pediatric neurology

Published: July 09, 2025

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Journal: Genome medicine

Published: May 20, 2025

Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.

Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.

Journal: HemaSphere

Published: February 20, 2025

Showing 1-12 of 153

Last Updated: 09/26/2026