Cecilia Mancini

Rome, 00165, Italy

Last Updated: 09/26/2026

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Found 78 publications

Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Journal: Nature genetics

Published: April 23, 2026

Muscle quality is associated with health-related quality of life in patients with eating disorders.

Muscle quality is associated with health-related quality of life in patients with eating disorders.

Journal: Clinical nutrition ESPEN

Published: February 06, 2026

Pediatric high-grade gliomas and cancer predisposition syndromes: A retrospective study.

Pediatric high-grade gliomas and cancer predisposition syndromes: A retrospective study.

Journal: HGG advances

Published: December 18, 2025

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

Journal: Brain : a journal of neurology

Published: November 26, 2025

UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.

UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.

Journal: Clinical genetics

Published: November 14, 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

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Journal: medRxiv : the preprint server for health sciences

Published: September 05, 2025

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.

Journal: Genes

Published: August 22, 2025

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Journal: Nature genetics

Published: August 21, 2025

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

Journal: Genes

Published: June 03, 2025

Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in POMGNT1.

Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in POMGNT1.

Journal: International journal of molecular sciences

Published: February 27, 2025

Showing 1-12 of 78

Last Updated: 09/26/2026