P. Monin

A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism

C. Boileau, P. Arnaud, J. Zech, 2020, Cytogenetic and Genome Research.

Genetic causes of rare and common epilepsies: What should the epileptologist know?

W. Kunz, T. Baumgartner, G. Lesca, 2022, European journal of medical genetics.

A new genetic variant causing auditory neuropathy: A CARE case report.

E. Veuillet, H. Thai-Van, P. Reynard, 2021, European annals of otorhinolaryngology, head and neck diseases.

Where to Now

P. Monin, 2012 .

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

I. Scheffer, H. Mefford, M. Mackay, 2020, Genetics in Medicine.

Clinical interest of molecular study in cases of isolated midline craniosynostosis

C. Mottolese, F. Di Rocco, J. Chauvel-Picard, 2023, European Journal of Human Genetics.

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, Genetics in Medicine.

DNA methylation episignature in Gabriele-de Vries syndrome.

D. Misceo, W. Craigen, R. Louie, 2022, Genetics in Medicine.

A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease

G. Lesca, N. Chatron, D. Sanlaville, 2017, Clinical genetics.