Valerie Daire-Cormier

Paris, France

Last Updated: 09/26/2026

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Found 294 publications

Diagnosis of hypochondroplasia: international Delphi consensus recommendations.

Diagnosis of hypochondroplasia: international Delphi consensus recommendations.

Journal: Nature reviews. Endocrinology

Published: August 04, 2026

Myhre Syndrome: New Horizons in Clinical Care, Research and the Pursuit of Therapy.

Myhre Syndrome: New Horizons in Clinical Care, Research and the Pursuit of Therapy.

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

Published: July 16, 2026

Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia.

Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia.

Journal: The New England journal of medicine

Published: June 29, 2026

A phase 3, randomized, double-blind, placebo-controlled, multicenter study to evaluate the efficacy and safety of vosoritide in children with hypochondroplasia: CANOPY HCH-3 study design.

A phase 3, randomized, double-blind, placebo-controlled, multicenter study to evaluate the efficacy and safety of vosoritide in children with hypochondroplasia: CANOPY HCH-3 study design.

Journal: Therapeutic advances in endocrinology and metabolism

Published: March 19, 2026

Homozygous Loss-of-Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities.

Homozygous Loss-of-Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities.

Journal: Clinical genetics

Published: January 06, 2026

In Reply.

In Reply.

Journal: Obstetrics and gynecology

Published: December 01, 2025

Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.

Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.

Journal: European journal of human genetics : EJHG

Published: November 27, 2025

Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia.

Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia.

Journal: European journal of human genetics : EJHG

Published: November 15, 2025

Multimodal imaging reveals resilient memory networks in carriers of pathogenic ARID1B variants.

Multimodal imaging reveals resilient memory networks in carriers of pathogenic ARID1B variants.

Journal: Translational psychiatry

Published: November 04, 2025

Long-term noninvasive ventilation in children with fibrodysplasia ossificans progressiva.

Long-term noninvasive ventilation in children with fibrodysplasia ossificans progressiva.

Journal: Respiratory medicine

Published: October 09, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

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

Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

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

Published: October 01, 2025

Showing 1-12 of 294

Last Updated: 09/26/2026