Lista de obras - Alan Hodgkinson - Dominio Público Uruguay

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

artículo científico publicado en 2016

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

artículo científico publicado en 2020

Cryptic variation in the human mutation rate

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

High-Resolution Genomic Analysis of Human Mitochondrial RNA Sequence Variation

artículo científico publicado en 2014

Human triallelic sites: evidence for a new mutational mechanism?

artículo científico publicado en 2009

Integrated genomic analysis of mitochondrial RNA processing in human cancers

artículo científico publicado en 2017

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

artículo científico publicado en 2020

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

artículo científico publicado en 2021

Nuclear genetic regulation of the human mitochondrial transcriptome

artículo científico publicado en 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.

artículo científico publicado en 2006

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

artículo científico publicado en 2015

Relaxed Selection During a Recent Human Expansion.

artículo científico publicado en 2017

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Variation in the mutation rate across mammalian genomes ⬇️

artículo científico publicado el 4 de octubre de 2011

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

artículo científico publicado en 2013

Lista de obras de 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