Francesca Cristofoli

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia et al. · Human Molecular Genetics · 2013 · 227 citations · Full text

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Bregje W.M. van Bon, Bradley P. Coe, Raphael Bernier et al. · Molecular Psychiatry · 2015 · 206 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Dyrk1a Lead +8

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

Mala Isrie, Martin W. Breuss, Guoling Tian et al. · The American Journal of Human Genetics · 2015 · 83 citations · Full text

<i>CREBBP</i> mutations in individuals without Rubinstein–Taybi syndrome phenotype

Leonie A. Menke, Martine J. van Belzen, Mariëlle Alders et al. · American Journal of Medical Genetics Part A · 2016 · 65 citations · Full text

Polymerase specific error rates and profiles identified by single molecule sequencing

Matthew S. Hestand, Jeroen Van Houdt, Francesca Cristofoli et al. · Mutation research. Fundamental and molecular mechanisms of mutagenesis · 2016 · 56 citations · Full text

Bioinformatics, Polymerase Chain Reaction, Dna Sequencing +13