Suchergebnisse - "Vestito, Letizia"

PubPharm (15)

1

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

enthalten in: bioRxiv.org | 2024

von Chen, Z. | Tucci, A. | Cipriani, V. | +17

2

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

enthalten in: bioRxiv.org | 2023

von Cipriani, V. | Vestito, L. | Magavern, E. | +58

3

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

enthalten in: medRxiv : the preprint server for health sciences | 2023

von Cipriani, V. | Vestito, L. | Magavern, E. | +58

4

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

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Pavinato, L. | Stanic, J. | Barzasi, M. | +28

5

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

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Park, J. | Tucci, A. | Cipriani, V. | +49

ErratumFor: Genet Med. 2022 Oct;24(10):2079-2090. - PMID 35986737

6

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

enthalten in: Brain : a journal of neurology | 2023

von Chen, Z. | Tucci, A. | Cipriani, V. | +75

7

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

enthalten in: Genetics in medicine | 20 August 2022

von Park, J. | Tucci, A. | Cipriani, V. | +46

8

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

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2022

von Park, J. | Tucci, A. | Cipriani, V. | +121

ErratumIn: Genet Med. 2023 Oct;25(10):100961. - PMID 37650884

9

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

enthalten in: Molecular psychiatry | 2022

von Montalban, E. | Giralt, A. | Taing, L. | +23

10

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

enthalten in: bioRxiv.org | 2021

von Konopka, T. | Vestito, L. | Smedley, D.