D. Marchetti

发表

Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients

Matteo Bellini, A. Pilotta, D. Milani, 2022, Genes.

Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome

C. Cesaretti, F. Natacci, F. Triulzi, 2022, Prenatal diagnosis.

A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation

M. Sana, A. Spitaleri, L. Quilliam, 2016, PloS one.

Identification of de novo mutations and rare variants in hypoplastic left heart syndrome

L. Galletti, O. Zuffardi, A. Vetro, 2012, Clinical genetics.

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

L. Galletti, L. Pezzani, M. Iascone, 2020, Molecular genetics & genomic medicine.

Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management

Matteo Bellini, A. Selicorni, M. Bedeschi, 2021, Journal of cardiovascular development and disease.

Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy

L. Caffi, L. Pezzani, M. Iascone, 2018, American journal of medical genetics. Part A.

Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing.

L. D’Antiga, A. Di Giorgio, M. Iascone, 2019, The Journal of pediatrics.

Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype

R. Badolato, V. Massa, Elisabetta Di Fede, 2022, American journal of medical genetics. Part A.

GAMES identifies and annotates mutations in next-generation sequencing projects

Stefano Volinia, Daniela Marchetti, Marco Galasso, 2011, Bioinform..

Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene

G. Maggiore, G. Giordano, M. Iascone, 2017, Pediatric reports.

PIGW‐related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature

A. Vignoli, M. Iascone, A. Peron, 2020, American journal of medical genetics. Part A.

Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation.

M. Sana, G. Fasolini, F. Fabiani, 2012, Circulation.

Menkes disease complicated by concurrent ACY1 deficiency: A case report

P. Veggiotti, E. Cattaneo, L. Antonelli, 2023, Frontiers in Genetics.

Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation.

M. Sana, F. Fabiani, P. Bianchi, 2012, Circulation.

Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Matteo Bellini, A. Selicorni, D. Milani, 2023, Molecular genetics & genomic medicine.

Gene symbol: LAMP2. Disease: Danon disease.

M. Iascone, P. Ferrazzi, A. Iacovoni, 2008, Human genetics.