J. Deforges

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.

P. Fergelot, C. Marchal, C. Rooryck, 2012, European journal of medical genetics.

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

B. D. de Vries, P. Fergelot, W. Reardon, 2016, American journal of medical genetics. Part A.

Fetal phenotypes in otopalatodigital spectrum disorders

P. Fergelot, J. Melki, A. Verloes, 2016, Clinical genetics.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

P. Fergelot, A. Mégarbané, N. Chassaing, 2016, Journal of Human Genetics.

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late‐Onset Phenotypes

P. Fergelot, G. Stevanin, B. Desnous, 2023, Movement disorders : official journal of the Movement Disorder Society.