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Letizia Vestito

Showing results (1-10 of 12) with videos related to

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Bioinformatics Advances|December 6, 2021
Dimensional reduction of phenotypes from 53 000 mouse models reveals a diverse landscape of gene functionTomasz Konopka, Letizia Vestito, Damian Smedley
NPJ Genomic Medicine|December 18, 2024
Efficient reinterpretation of rare disease cases using ExomiserLetizia Vestito, Julius O B Jacobsen, Susan Walker, et al.
Brain : a Journal of Neurology|January 9, 2023
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxiaZhongbo Chen, Arianna Tucci, Valentina Cipriani, et al.
Molecular Psychiatry|February 18, 2022
Translational profiling of mouse dopaminoceptive neurons reveals region-specific gene expression, exon usage, and striatal prostaglandin E2 modulatory effectsEnrica Montalban, Albert Giralt, Lieng Taing, et al.
Scientific Reports|August 15, 2020
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutationsDale Bryant, Marian Seda, Emma Peskett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 5, 2023
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorderLisa Pavinato, Jennifer Stanic, Marta Barzasi, et al.
Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research LibraryJenny Lord, Alistair T Pagnamenta, Letizia Vestito, et al.
Brain : a Journal of Neurology|June 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticityMehdi Benkirane, Marion Bonhomme, Heba Morsy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 20, 2022
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Nature|February 26, 2025
Rare disease gene association discovery in the 100,000 Genomes ProjectValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Bioinformatics Advances|December 6, 2021
Dimensional reduction of phenotypes from 53 000 mouse models reveals a diverse landscape of gene functionTomasz Konopka, Letizia Vestito, Damian Smedley
NPJ Genomic Medicine|December 18, 2024
Efficient reinterpretation of rare disease cases using ExomiserLetizia Vestito, Julius O B Jacobsen, Susan Walker, et al.
Brain : a Journal of Neurology|January 9, 2023
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxiaZhongbo Chen, Arianna Tucci, Valentina Cipriani, et al.
Molecular Psychiatry|February 18, 2022
Translational profiling of mouse dopaminoceptive neurons reveals region-specific gene expression, exon usage, and striatal prostaglandin E2 modulatory effectsEnrica Montalban, Albert Giralt, Lieng Taing, et al.
Scientific Reports|August 15, 2020
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutationsDale Bryant, Marian Seda, Emma Peskett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 5, 2023
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorderLisa Pavinato, Jennifer Stanic, Marta Barzasi, et al.
Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research LibraryJenny Lord, Alistair T Pagnamenta, Letizia Vestito, et al.
Brain : a Journal of Neurology|June 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticityMehdi Benkirane, Marion Bonhomme, Heba Morsy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 20, 2022
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Nature|February 26, 2025
Rare disease gene association discovery in the 100,000 Genomes ProjectValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Pageof 2