List of works - Simon Topp

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

scientific article published on 25 June 2018

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

scientific article published on 5 March 2019

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

scientific article

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

scientific article published on 17 May 2012

Are Grammatical Representations Useful for Learning from Biological Sequence Data?— A Case Study ⬇️

scientific article published on January 1, 2001

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

scientific article published on 31 May 2016

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene

article

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

scientific article published on 01 March 2020

Characterisation of gene expression changes following permanent MCAO in the rat using subtractive hybridisation.

scientific article

Cloning and functional expression of a human orthologue of rat vanilloid receptor-1.

scientific article

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

scholarly article

Deep resequencing unveils genetic architecture of ADIPOQ and identifies a novel low-frequency variant strongly associated with adiponectin variation

scientific article published on 8 March 2012

Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.

scientific article published on 4 April 2012

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

scientific article published on 19 February 2015

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

scientific article published on 25 November 2019

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

scientific article published on 22 October 2014

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

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

scientific article published on 25 July 2016

Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients

article

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

scientific article

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

scientific article

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

New methods for researching accessory proteins.

scientific article

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

scientific article published on 4 April 2017

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.

scientific article

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

scientific article published on 29 May 2020

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

scientific article published on 01 February 2020

RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy

scientific article published on 01 December 2019

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

scientific article published on 25 February 2016

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients

scientific article published on 11 August 2012

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia

scholarly article by Soragia Athina Gkazi et al published 24 August 2018 in Neurobiology of Aging

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

scientific article

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

scientific article published on 13 July 2015

The role of positive selection in determining the molecular cause of species differences in disease

scientific article (publication date: 6 October 2008)

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 Simon Topp

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

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

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

Are Grammatical Representations Useful for Learning from Biological Sequence Data?— A Case Study ⬇️

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

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

Characterisation of gene expression changes following permanent MCAO in the rat using subtractive hybridisation.

Cloning and functional expression of a human orthologue of rat vanilloid receptor-1.

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

Deep resequencing unveils genetic architecture of ADIPOQ and identifies a novel low-frequency variant strongly associated with adiponectin variation

Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

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

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

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

Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

New methods for researching accessory proteins.

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

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

RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

The role of positive selection in determining the molecular cause of species differences in disease

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