Marilena C. Di Giacomo

Potenza, 85100, Italy

Last Updated: 09/26/2026

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Found 13 publications

Congenital microcephaly with subtle craniofacial dysmorphism because of a novel homozygous asparagine synthetase variant.

Congenital microcephaly with subtle craniofacial dysmorphism because of a novel homozygous asparagine synthetase variant.

Journal: Clinical dysmorphology

Published: February 11, 2026

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Journal: European journal of human genetics : EJHG

Published: December 22, 2022

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Journal: Journal of medical genetics

Published: July 11, 2021

Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.

Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.

Journal: Genes

Published: June 19, 2021

DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.

DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 06, 2021

Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.

Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.

Journal: Clinical genetics

Published: January 18, 2021

Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.

Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.

Journal: Genes

Published: January 11, 2021

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.

Journal: Journal of medical genetics

Published: November 19, 2019

De novo unbalanced translocations have a complex history/aetiology.

De novo unbalanced translocations have a complex history/aetiology.

Journal: Human genetics

Published: August 14, 2018

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.

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.

Journal: American journal of medical genetics. Part A

Published: July 27, 2017

Neurological features of 14q24-q32 interstitial deletion: report of a new case.

Neurological features of 14q24-q32 interstitial deletion: report of a new case.

Journal: Molecular cytogenetics

Published: October 03, 2015

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.

Journal: Journal of endocrinological investigation

Published: February 05, 2015

Showing 1-12 of 13

Last Updated: 09/26/2026