arrow
A

Arianna Tucci

William Harvey Research Institute
H指数:46
被引数:9,229

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders
2026-07-220
OA
Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy

与进行性肌阵挛癫痫和家族性成人肌阵挛癫痫相关的MARCHF6重复扩展的新型、复杂构型

2025-01-010
OAAI
Increased frequency of repeat expansion mutations across different populations

不同人群重复扩增突变的频率增加

2024-10-013
OAAI
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability

甲基化富含GC重复序列的全表型关联研究确定了AFF3中与智力障碍相关的GCC重复序列扩展

2024-09-231
PRE
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4
2024-01-1016
OA
Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022)

致编辑的信: 神经元核内包涵体疾病中的Hornerin沉积: Park等人直接鉴定包涵体中具有成分偏倚区域的蛋白质 (2022)

2024-01-020
OAAI
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy (vol 24 , pg 2079 , 2022)

杂合的UCHL1功能丧失变体会导致神经退行性疾病,伴有痉挛,共济失调,神经病和视神经萎缩 (第24卷,2079页,2022页)

2023-10-011
OAAI
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis

RFC1重复扩增的正常和致病性变异: 对临床诊断的意义

BRAIN
IF11.7
2023-07-1432
OAAI
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

普通人群中致病性AR CAG重复扩增的意外频率

BRAIN
IF11.7
2023-02-1713
OAAI
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
2023-01-3131
OAAI
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia
BRAIN
IF11.7
2023-01-107
OAAI
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

杂合的UCHL1功能丧失变体导致神经退行性疾病,伴有痉挛,共济失调,神经病和视神经萎缩

2022-10-0111
OAAI
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

审稿人: 串联重复序列及其周围的读取比对的单倍型解析可视化

2022-08-1122
OAAI
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy
2022-02-1728
OAAI
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report

医疗保健中罕见疾病诊断的100,000基因组试点-初步报告

2021-11-11364
OAAI
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
2021-11-0341
OAAI
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

SPATA5L1中的双等位基因变体导致智力障碍,痉挛性肌张力障碍性脑瘫,癫痫和听力损失

2021-10-0115
OAAI