Letizia Vestito

Charterhouse Square
Charterhouse, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 13 publications

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.

Journal: medRxiv : the preprint server for health sciences

Published: April 03, 2026

Efficient reinterpretation of rare disease cases using Exomiser.

Efficient reinterpretation of rare disease cases using Exomiser.

Journal: NPJ genomic medicine

Published: June 24, 2024

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Journal: Brain : a journal of neurology

Published: January 28, 2024

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.

Journal: medRxiv : the preprint server for health sciences

Published: January 10, 2024

Rare disease gene association discovery in the 100,000 Genomes Project.

Rare disease gene association discovery in the 100,000 Genomes Project.

Journal: Nature

Published: December 19, 2023

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

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

Published: August 31, 2023

Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.

Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.

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

Published: October 19, 2022

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.

Journal: Brain : a journal of neurology

Published: June 27, 2022

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

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

Published: March 02, 2022

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Journal: The New England journal of medicine

Published: November 10, 2021

Dimensional reduction of phenotypes from 53 000 mouse models reveals a diverse landscape of gene function.

Dimensional reduction of phenotypes from 53 000 mouse models reveals a diverse landscape of gene function.

Journal: Bioinformatics advances

Published: June 14, 2021

Translational profiling of mouse dopaminoceptive neurons reveals region-specific gene expression, exon usage, and striatal prostaglandin E2 modulatory effects.

Translational profiling of mouse dopaminoceptive neurons reveals region-specific gene expression, exon usage, and striatal prostaglandin E2 modulatory effects.

Journal: Molecular psychiatry

Published: March 22, 2021

Showing 1-12 of 13

Last Updated: 09/26/2026