C. Daolio

Review of the function of SEMA3A in lymphatic vessel maturation and its potential as a candidate gene for lymphedema: Analysis of three families with rare causative variants.

M. Baglivo, B. Amato, M. Bertelli, 2020, Lymphology.

The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas

E. Trevisson, M. Forzan, M. Clementi, 2019, Molecular genetics & genomic medicine.

Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny

D. Gentilini, L. Larizza, L. Calzari, 2022, Clinical epigenetics.

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

A. Reymond, G. Scarano, O. Gabrielli, 2011, Orphanet journal of rare diseases.

“Double Trouble” or an Amplification of the Triploidy Phenotype?

M. Rugge, M. Fassan, F. Consoli, 2013, Fetal and pediatric pathology.

The Pitt‐Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

R. Pettinato, C. Romano, G. Vasco, 2011, American journal of medical genetics. Part A.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.