Marialetizia Motta

Rome, 00165, Italy

Last Updated: 09/26/2026

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Found 37 publications

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

Molecular Dynamics Simulations of the SPRED2Leu100Pro EVH-1 Domain Complexed with the GAP-Related Domain of Neurofibromin.

Molecular Dynamics Simulations of the SPRED2Leu100Pro EVH-1 Domain Complexed with the GAP-Related Domain of Neurofibromin.

Journal: International journal of molecular sciences

Published: March 27, 2025

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

Journal: American journal of human genetics

Published: June 07, 2024

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

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

Published: April 03, 2024

Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma.

Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma.

Journal: Nature communications

Published: March 28, 2024

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Journal: Annals of neurology

Published: November 16, 2023

RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors.

RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors.

Journal: The Journal of pathology

Published: November 08, 2023

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.

Journal: American journal of human genetics

Published: June 11, 2022

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.

Journal: Human molecular genetics

Published: February 23, 2022

SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.

SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.

Journal: Clinical genetics

Published: February 17, 2022

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.

Journal: American journal of human genetics

Published: July 21, 2021

Showing 1-12 of 37

Last Updated: 09/26/2026