G. Mancano

发表

Role of CTCF Protein in Regulating FMR1 Locus Transcription

M. Helmer-Citterich, F. Ferrè, Stella Lanni, 2013, PLoS genetics.

An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus

F. Gurrieri, G. Ferraccioli, E. Gremese, 2017, Lupus.

72nd Congress of the Italian Society of Pediatrics

E. Kossoff, P. Striano, F. Callea, 2017, Italian Journal of Pediatrics.

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

E. Mercuri, A. Slavotinek, Emanuela Ponzi, 2015, European Journal of Human Genetics.

Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells

M. Helmer-Citterich, F. Ferrè, Stella Lanni, 2016, Epigenetics & Chromatin.

Genetic counseling during COVID‐19 pandemic: Tuscany experience

A. Iolascon, S. Giglio, G. Mancano, 2020, Molecular genetics & genomic medicine.

Defining the role of the CGGBP1 protein in FMR1 gene expression

Stella Lanni, G. Neri, P. Chiurazzi, 2015, European Journal of Human Genetics.

Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature

C. Azzari, G. Indolfi, G. Mancano, 2019, Front. Immunol..

FOXI3 pathogenic variants cause one form of craniofacial microsomia

J. Lupski, Xiaogang Wang, S. Antonarakis, 2023, Nature Communications.

Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: A co‐morbidity model with additional copy number variations in a large family

M. Zollino, G. Marangi, G. Mancano, 2013, American journal of medical genetics. Part A.

VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database

Michele Pinelli, Margherita Mutarelli, Francesco Musacchia, 2018, BMC Bioinformatics.

[Clinical and molecular study of the Noonan syndrome].

G. Neri, M. Pomponi, A. Avendaño, 2012, Investigación Clínica.

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.

E. Parrini, T. Pisano, F. Melani, 2024, American journal of medical genetics. Part C, Seminars in medical genetics.