Tommaso Pippucci

Bologna, Italy

Last Updated: 09/26/2026

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Found 118 publications

CHARACTERIZATION OF A SERIES OF PATIENTS WITH GNE-RELATED THROMBOCYTOPENIA: INSIGHTS INTO PATHOGENESIS, DIAGNOSIS, AND TREATMENT.

CHARACTERIZATION OF A SERIES OF PATIENTS WITH GNE-RELATED THROMBOCYTOPENIA: INSIGHTS INTO PATHOGENESIS, DIAGNOSIS, AND TREATMENT.

Journal: Journal of thrombosis and haemostasis : JTH

Published: May 23, 2026

A polygenic etiology for inherited thrombocytopenias of unknown origin.

A polygenic etiology for inherited thrombocytopenias of unknown origin.

Journal: HemaSphere

Published: March 06, 2026

Compound Heterozygous Variants in the PAICS Gene Integrate the Previously Described Divergent Phenotypes.

Compound Heterozygous Variants in the PAICS Gene Integrate the Previously Described Divergent Phenotypes.

Journal: American journal of medical genetics. Part A

Published: February 18, 2026

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy.

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy.

Journal: Epilepsia

Published: January 17, 2026

Distribution of Sequencing Coverage Gaps in Exomes and Genomes: Potential Implications for Diagnostic Accuracy in Neurodevelopmental Disorder Genes.

Distribution of Sequencing Coverage Gaps in Exomes and Genomes: Potential Implications for Diagnostic Accuracy in Neurodevelopmental Disorder Genes.

Journal: Genes

Published: January 16, 2026

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

Journal: Human genetics

Published: November 21, 2025

DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome.

DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome.

Journal: American journal of hematology

Published: August 11, 2025

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

Journal: Genome medicine

Published: February 01, 2025

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.

Journal: American journal of medical genetics. Part A

Published: January 14, 2025

Expanding the Clinical Spectrum of SPG26: A Case Report and Review of B4GALNT1-Associated Hereditary Spastic Paraplegia.

Expanding the Clinical Spectrum of SPG26: A Case Report and Review of B4GALNT1-Associated Hereditary Spastic Paraplegia.

Journal: Movement disorders clinical practice

Published: January 02, 2025

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Journal: American journal of human genetics

Published: September 13, 2024

Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data.

Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data.

Journal: Human genomics

Published: August 02, 2024

Showing 1-12 of 118

Last Updated: 09/26/2026