M. L. De Bernardi

Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant.

N. Brunetti‐Pierri, V. Carelli, F. Bisulli, 2022, European journal of medical genetics.

Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability

B. Dallapiccola, A. Novelli, S. Di Tommaso, 2022, American journal of medical genetics. Part A.

Postnatal microcephaly and retinal involvement expand the phenotype of RPL10 ‐related disorder

N. Brunetti‐Pierri, M. Pinelli, I. Scala, 2022, American journal of medical genetics. Part A.

A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.

L. Garavelli, L. Matalonga, C. Baldo, 2018, Neuropediatrics.

A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism

G. Cantalupo, M. Delledonne, A. Giorgetti, 2022, Genes.

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11

A. Bayat, L. Garavelli, A. Superti-Furga, 2018, American journal of medical genetics. Part A.

Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome

N. Brunetti‐Pierri, S. Douzgou, B. Franco, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets

A. Iolascon, A. Novelli, M. Della Monica, 2023, Endocrine, metabolic & immune disorders drug targets.