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American Journal of Human Genetics|December 27, 2011
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndromeDamien Lederer, Bernard Grisart, Maria Cristina Digilio, et al.
Disease Markers|July 2, 2010
Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart diseaseValentina Guida, Francesca Lepri, Raymon Vijzelaar, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
JAG1 mutation in a patient with deletion 22q11.2 syndrome and tetralogy of FallotMaria Cristina Digilio, Alessandro De Luca, Francesca Lepri, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 5, 2014
Behavioral phenotype in Costello syndrome with atypical mutation: a case reportPaolo Alfieri, Cristina Caciolo, Giorgia Piccini, et al.
BMC Medical Genetics|September 4, 2015
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codonElisa Pisaneschi, Pietro Sirleto, Francesca Romana Lepri, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|September 11, 2012
RDDR: a dysmorphology diagnostic network for newborns in central ItalyMaria Lisa Dentici, Luigi Tarani, Maria Cristina Digilio, et al.
Annals of Human Genetics|October 11, 2018
Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndromeViola Alesi, Maria Lisa Dentici, Sara Loddo, et al.
Frontiers in Pediatrics|December 20, 2016
What Is New in Genetics of Congenital Heart Defects?Maria Cristina Digilio, Bruno Marino
European Journal of Human Genetics : EJHG|July 25, 2022
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1Viola Alesi, Francesca Romana Lepri, Maria Lisa Dentici, et al.
European Journal of Medical Genetics|September 7, 2018
TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerationsMarcello Niceta, Sabina Barresi, Francesca Pantaleoni, et al.
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