List of works - Alfredo Iacoangeli

A Knowledge-Based Machine Learning Approach to Gene Prioritisation in Amyotrophic Lateral Sclerosis

scientific article published on 19 June 2020

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

scientific article published on 5 March 2019

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

scientific article published on 19 May 2020

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

scientific article published on 22 September 2018

C9orf72 intermediate expansions of 24-30 repeats are associated with ALS

scientific article published on 17 July 2019

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Cross-reactive probes on Illumina DNA methylation arrays: a large study on ALS shows that a cautionary approach is warranted in interpreting epigenome-wide association studies

scientific article published on 17 December 2020

DGLinker: flexible knowledge-graph prediction of disease–gene associations

scientific article published on 18 May 2021

DNAscan: personal computer compatible NGS analysis, annotation and visualisation

scientific article published on 27 April 2019

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

scientific article published on 25 November 2019

Exploiting homology information in nontemplate based prediction of protein structures.

scientific article

Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

scientific article

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

scientific article published on 26 March 2021

PepComposer: computational design of peptides binding to a given protein surface

scientific article (publication date: 8 July 2016)

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

Reconsidering the causality of TIA1 mutations in ALS.

scientific article published on 13 December 2017

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

scientific article published on 28 January 2022

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

UK case control study of smoking and risk of amyotrophic lateral sclerosis

scientific article published on 17 April 2020

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

scientific article published on 30 September 2018

List of works by Alfredo Iacoangeli