Alain Verloes

Paris, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 211 publications

RAS/MAPK pathway modulation with simvastatin in children with Noonan syndrome: a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

RAS/MAPK pathway modulation with simvastatin in children with Noonan syndrome: a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

Journal: EClinicalMedicine

Published: March 24, 2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Journal: American journal of human genetics

Published: March 11, 2026

European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework.

European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework.

Journal: Frontiers in public health

Published: March 03, 2026

Crisis readiness for rare disease populations: learnings and recommendations by the European Reference Networks.

Crisis readiness for rare disease populations: learnings and recommendations by the European Reference Networks.

Journal: The Lancet regional health. Europe

Published: February 25, 2026

Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

Journal: Brain : a journal of neurology

Published: February 10, 2026

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: January 13, 2026

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

Journal: Genome medicine

Published: December 16, 2025

European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.

European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.

Journal: Orphanet journal of rare diseases

Published: December 03, 2025

Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus.

Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus.

Journal: Genes

Published: September 05, 2025

Expanding the phenotype associated with biallelic SCNM1 variants.

Expanding the phenotype associated with biallelic SCNM1 variants.

Journal: Human genomics

Published: July 24, 2025

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

Journal: The Journal of clinical investigation

Published: July 23, 2025

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

Journal: American journal of human genetics

Published: July 17, 2025

Showing 1-12 of 211

Last Updated: 09/26/2026