List of works by William Sproviero

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

scientific article

ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients.

scientific article published on 5 March 2019

ATXN2 trinucleotide repeat length correlates with risk of ALS.

scientific article

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

scientific article published on 22 September 2018

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

scientific article published on 31 May 2016

DNAscan: personal computer compatible NGS analysis, annotation and visualisation

scientific article published on 27 April 2019

Detection of long repeat expansions from PCR-free whole-genome sequence data

scientific article

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

scientific article published on 25 July 2016

Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses

scientific article published on 22 May 2018

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

scientific article published on 20 December 2014

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

scientific article published on 4 October 2017

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

Novel human pathological mutations. Gene symbol: PARK7. Disease: Parkinson disease

scientific article published in April 2010

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis

scientific article published on September 2016

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat

scientific article published on 12 April 2013

SMN1 gene copy number analyses for SMA healthy carriers in Italian population

scientific article published on June 2012

Telomere length is greater in ALS than in controls: a whole genome sequencing study

scientific article published on 01 April 2019

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

The multistep hypothesis of ALS revisited: The role of genetic mutations

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