Diana Carli

Turin, 10126, Italy

Last Updated: 09/26/2026

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Found 92 publications

TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant.

TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant.

Journal: Genes

Published: May 10, 2026

Alpelisib in PIK3CA-Related Overgrowth Spectrum (PROS): A Systematic Review of Real-World Evidence in over 100 Patients.

Alpelisib in PIK3CA-Related Overgrowth Spectrum (PROS): A Systematic Review of Real-World Evidence in over 100 Patients.

Journal: Cells

Published: March 30, 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

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

Journal: JAMA network open

Published: October 17, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

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

Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

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

Published: October 01, 2025

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Journal: European journal of human genetics : EJHG

Published: September 23, 2025

Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.

Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.

Journal: European journal of human genetics : EJHG

Published: September 05, 2025

Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome.

Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome.

Journal: Genes

Published: August 05, 2025

Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.

Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.

Journal: Italian journal of pediatrics

Published: May 07, 2025

Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.

Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.

Journal: Pediatric neurology

Published: February 15, 2025

A Systems Biology Approach for Prioritizing ASD Genes in Large or Noisy Datasets.

A Systems Biology Approach for Prioritizing ASD Genes in Large or Noisy Datasets.

Journal: International journal of molecular sciences

Published: January 28, 2025

Showing 1-12 of 92

Last Updated: 09/26/2026