S. Frangella

Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1

G. Merla, G. Squeo, M. Zollino, 2020, Genes.

Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome

G. Zampino, S. Ricciardi, C. Graziano, 2020, Journal of Medical Genetics.

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

E. Zackai, M. Harr, B. Keena, 2017, European journal of medical genetics.

A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B‐related disorders

M. D. Di Giacomo, D. Orteschi, M. Zollino, 2018, American journal of medical genetics. Part A.