M. Grelet

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

N. Philip, P. Calvas, N. Lévy, 2019, Orphanet Journal of Rare Diseases.

Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

A. Afenjar, N. Philip, D. Lacombe, 2018, Clinical genetics.

Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene

Y. Ville, C. Bole-Feysot, J. Rendu, 2020, Clinical genetics.

Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect

Amélie C Pinard, G. Collod-Béroud, S. Zaffran, 2018, Molecular Biology Reports.

Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49

N. Philip, N. Lévy, F. Leturcq, 2022, Genes.

SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation.

N. Philip, S. Sigaudy, C. Missirian, 2019, Clinical dysmorphology.

Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.

M. Didic, E. Jouvent, D. Hervé, 2021, Brain : a journal of neurology.

Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family

R. Reynaud, F. Castinetti, A. Saveanu, 2022, Hormone Research in Paediatrics.