Joana Bengoa

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

G. Mortier, M. Maghnie, C. Garel, 2022, Orphanet Journal of Rare Diseases.

A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders

A. Munnich, Y. Ville, A. Rötig, 2020, Genetics in Medicine.

The recognition of the profession of Genetic Counsellors in Europe

R. Moldovan, M. McAllister, M. Paneque, 2018, European Journal of Human Genetics.

An European overview of genetic counselling supervision provision.

R. Moldovan, C. Lemos, M. Paneque, 2023, European journal of medical genetics.

Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders

A. Munnich, Y. Ville, C. Elie, 2017, Journal of Medical Genetics.