Silvia Di Tommaso

Rome, Italy

Last Updated: 09/26/2026

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Found 19 publications

Targeted long-read sequencing with adaptive sampling enables the integrated genomic and epigenomic profiling of imprinting disorders.

Targeted long-read sequencing with adaptive sampling enables the integrated genomic and epigenomic profiling of imprinting disorders.

Journal: Scientific reports

Published: December 16, 2025

Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities.

Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities.

Journal: Frontiers in genetics

Published: June 15, 2025

Unexpected genomic architecture in a sporadic case of C1-INH Hereditary Angioedema: the hidden heritability.

Unexpected genomic architecture in a sporadic case of C1-INH Hereditary Angioedema: the hidden heritability.

Journal: Orphanet journal of rare diseases

Published: February 14, 2025

Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.

Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.

Journal: Human genomics

Published: August 26, 2023

A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review.

A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review.

Journal: BMC medical genomics

Published: July 24, 2023

Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements.

Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements.

Journal: Biomolecules

Published: March 06, 2023

A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.

A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.

Journal: International journal of molecular sciences

Published: September 01, 2022

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Journal: American journal of medical genetics. Part A

Published: March 01, 2022

Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.

Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.

Journal: American journal of medical genetics. Part A

Published: September 17, 2021

1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review.

1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review.

Journal: Journal of cardiovascular development and disease

Published: August 30, 2021

8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision.

8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision.

Journal: American journal of medical genetics. Part A

Published: June 21, 2021

Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.

Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.

Journal: International journal of molecular sciences

Published: December 22, 2020

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Last Updated: 09/26/2026