List of works - Alan Hodgkinson

A haplotype-based normalization technique for the analysis and detection of allele specific expression

scientific article

Analysis of mitochondrial m1A/G RNA modification reveals links to nuclear genetic variants and associated disease processes

scientific article published on 27 March 2020

Cryptic variation in the human mutation rate

scientific article

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

scientific article (publication date: May 2013)

Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia

scientific article published on 27 February 2016

Gene-by-environment interactions in urban populations modulate risk phenotypes.

scientific article published on 6 March 2018

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

scientific article

High-Resolution Genomic Analysis of Human Mitochondrial RNA Sequence Variation

scientific article published in Science

Human triallelic sites: evidence for a new mutational mechanism?

scientific article

Integrated genomic analysis of mitochondrial RNA processing in human cancers

scientific article

Intellectual disability-associated factor Zbtb11 cooperates with NRF-2/GABP to control mitochondrial function

scientific article published on 29 October 2020

Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease

scientific article published on 04 November 2021

Nuclear genetic regulation of the human mitochondrial transcriptome

scientific article published on 18 February 2019

Prior infection of Manduca sexta with non-pathogenic Escherichia coli elicits immunity to pathogenic Photorhabdus luminescens: roles of immune-related proteins shown by RNA interference.

scientific article published on 17 April 2006

Recombination affects accumulation of damaging and disease-associated mutations in human populations

scientific article

Relaxed Selection During a Recent Human Expansion.

scientific article

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

scientific article published on 28 September 2015

Selective constraint, background selection, and mutation accumulation variability within and between human populations

scientific article

The genomic distribution and local context of coincident SNPs in human and chimpanzee.

scientific article published on 8 July 2010

The large-scale distribution of somatic mutations in cancer genomes.

scientific article published on 20 October 2011

Variation in the mutation rate across mammalian genomes ⬇️

scientific article published on 04 October 2011

Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans

scientific article

List of works by Alan Hodgkinson

A haplotype-based normalization technique for the analysis and detection of allele specific expression

Analysis of mitochondrial m1A/G RNA modification reveals links to nuclear genetic variants and associated disease processes

Cryptic variation in the human mutation rate

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia

Gene-by-environment interactions in urban populations modulate risk phenotypes.

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

High-Resolution Genomic Analysis of Human Mitochondrial RNA Sequence Variation

Human triallelic sites: evidence for a new mutational mechanism?

Integrated genomic analysis of mitochondrial RNA processing in human cancers

Intellectual disability-associated factor Zbtb11 cooperates with NRF-2/GABP to control mitochondrial function

Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease

Nuclear genetic regulation of the human mitochondrial transcriptome

Prior infection of Manduca sexta with non-pathogenic Escherichia coli elicits immunity to pathogenic Photorhabdus luminescens: roles of immune-related proteins shown by RNA interference.

Recombination affects accumulation of damaging and disease-associated mutations in human populations

Relaxed Selection During a Recent Human Expansion.

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

Selective constraint, background selection, and mutation accumulation variability within and between human populations

The genomic distribution and local context of coincident SNPs in human and chimpanzee.

The large-scale distribution of somatic mutations in cancer genomes.

Variation in the mutation rate across mammalian genomes ⬇️

Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans