C. Cesario

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Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies

R. Alaggio, M. L. Dentici, A. Conforti, 2021, Frontiers in Pediatrics.

KBG syndrome: Common and uncommon clinical features based on 31 new patients

M. Digilio, B. Dallapiccola, M. Rinelli, 2020, American journal of medical genetics. Part A.

Trichothiodystrophy and Chiari malformation type I in a child: more than a coincidence?

G. Zambruno, S. Giancristoforo, B. Spacca, 2019, European Journal of Dermatology.

First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses

S. Rossi, G. Zambruno, D. Castiglia, 2020, International journal of molecular sciences.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

J. Rosenfeld, A. V. Vulto-van Silfhout, E. Eichler, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study

A. Novelli, G. Zambruno, C. Quintarelli, 2022, Biomedicines.

Small 4p16.3 deletions: Three additional patients and review of the literature

G. Scarano, M. Digilio, B. Dallapiccola, 2018, American journal of medical genetics. Part A.

Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient

A. Novelli, G. Girolomoni, C. Colato, 2021, Clinical case reports.

A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ‐related phenotype and suggests further observations

N. Fleischer, E. Agolini, A. Novelli, 2020, American journal of medical genetics. Part A.

RSPO1-mutated fibroblasts from non-tumoural areas of palmoplantar keratoderma display a cancer-associated phenotype

E. Dellambra, M. Teson, L. Guerra, 2021, European Journal of Dermatology.

Immunofluorescence mapping, electron microscopy and genetics in the diagnosis and sub‐classification of inherited epidermolysis bullosa: a single‐centre retrospective comparative study of 87 cases with long‐term follow‐up

R. Boldrini, S. Rossi, A. Novelli, 2020, Journal of the European Academy of Dermatology and Venereology : JEADV.

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes

J. Graham, W. Dobyns, P. Sanchez-Lara, 2021, American journal of medical genetics. Part A.

Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders

A. Battaglia, G. Cioni, T. Mazza, 2020, Journal of Pediatric Genetics.

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples

M. Tartaglia, E. Agolini, L. Garavelli, 2021, Genes.

Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet–Biedl Syndrome–Like Phenotype

T. Mazza, L. Bernardini, B. Torres, 2022, Frontiers in Genetics.

A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis

A. Iolascon, A. Novelli, M. Capasso, 2023, Genes.

Expanding the KIF4A ‐associated phenotype

F. Alkuraya, N. Chassaing, W. Dobyns, 2021, American journal of medical genetics. Part A.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

J. Rosenfeld, E. Roeder, J. Lupski, 2023, American journal of human genetics.

Self-improving dominant dystrophic epidermolysis bullosa: phenotypic variability associated with COL7A1 mutation p.Gly2037Glu

S. Rossi, G. Zambruno, C. Guerriero, 2020, European Journal of Dermatology.

Successful treatment with MEK‐inhibitor in a patient with NRAS ‐related cutaneous skeletal hypophosphatemia syndrome

E. Medico, A. Brusco, G. Ferrero, 2022, Genes, chromosomes & cancer.

Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype

A. Novelli, G. Mastrogiorgio, P. Alfieri, 2021, Clinical dysmorphology.

A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome

F. Fogolari, Nadia Passon, G. Damante, 2021, Molecular genetics & genomic medicine.

Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization

S. Rossi, D. Martinelli, G. Zambruno, 2021, Genes.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

J. Rosenfeld, A. V. Vulto-van Silfhout, E. Eichler, 2023, Genetics in Medicine.

Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients

S. Giancristoforo, M. El Hachem, A. Diociaiuti, 2024, Dermatology.

Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

M. Vikkula, C. Lavarino, H. Karstensen, 2024, Orphanet journal of rare diseases.