Lista de obras - Martin S. Taylor - Dominio Público Uruguay

A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families

artículo científico publicado en 2014

A high-resolution single nucleotide polymorphism genetic map of the mouse genome

artículo científico publicado en 2006

A promoter-level mammalian expression atlas

artículo científico publicado en 2014

Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model

artículo científico publicado en 2017

Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs

artículo científico publicado en 2002

Application of next generation qPCR and sequencing platforms to mRNA biomarker analysis

artículo científico publicado en 2012

Bidirectional transcription initiation marks accessible chromatin and is not specific to enhancers

artículo científico publicado en 2017

Bidirectional transcription marks accessible chromatin and is not specific to enhancers

article

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

artículo científico publicado en 2011

Comparative transcriptomics of primary cells in vertebrates

artículo científico publicado en 2020

Conservation and divergence in Toll-like receptor 4-regulated gene expression in primary human versus mouse macrophages

artículo científico publicado en 2012

Corrigendum: Genome-wide analysis of mammalian promoter architecture and evolution

scholarly article published in Nature Genetics

Development and evaluation of a real-time PCR assay for detection of Pneumocystis jirovecii DNA in bronchoalveolar lavage fluid of HIV-infected patients

article

Dynamic and physical clustering of gene expression during epidermal barrier formation in differentiating keratinocytes

artículo científico publicado en 2009

Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development.

artículo científico publicado en 2012

Evidence of a Large-Scale Functional Organization of Mammalian Chromosomes: Authors' Reply.

artículo científico publicado en 2007

Evolution of the human-specific microRNA miR-941.

artículo científico publicado en 2012

Evolutionary constraints on the Disrupted in Schizophrenia locus

artículo científico publicado en 2003

Evolutionary dependencies show paths to cancer development

artículo científico publicado en 2020

Exome sequencing to detect rare variants associated with general cognitive ability: a pilot study.

artículo científico

Expression of the fras1/frem gene family during zebrafish development and fin morphogenesis

artículo científico publicado en 2008

FRA2A is a CGG repeat expansion associated with silencing of AFF3

artículo científico publicado en 2014

Functional annotation of human long noncoding RNAs via molecular phenotyping

artículo científico publicado en 2020

Genetic analysis of pathways regulated by the von Hippel-Lindau tumor suppressor in Caenorhabditis elegans

artículo científico publicado en 2004

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

artículo científico publicado en 2014

Genome-wide analysis of mammalian promoter architecture and evolution

artículo científico publicado en 2006

Genome-wide genetic association of complex traits in heterogeneous stock mice

article

Genome-wide mapping of embedded ribonucleotides and other noncanonical nucleotides using emRiboSeq and EndoSeq.

artículo científico publicado en 2015

Genomic anatomy of the Tyrp1 (brown) deletion complex

artículo científico publicado en 2006

Heterotachy in mammalian promoter evolution

artículo científico publicado en 2006

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects ⬇️

artículo científico publicado en 2014

High resolution mapping of expression QTLs in heterogeneous stock mice in multiple tissues

artículo científico publicado en 2009

Homozygous loss-of-function variants in European cosmopolitan and isolate populations

artículo científico publicado en 2015

Identification of a localized nonsense-mediated decay pathway at the endoplasmic reticulum

artículo científico publicado en 2020

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs

artículo científico publicado en 2005

Identification of common genetic variation that modulates alternative splicing

artículo científico publicado en 2007

Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions

scientific article published on 25 November 2019

Interaction of the anaphase-promoting complex/cyclosome and proteasome protein complexes with multiubiquitin chain-binding proteins

artículo científico publicado en 2003

Lagging-strand replication shapes the mutational landscape of the genome

artículo científico publicado en 2015

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

artículo científico publicado en 2014

Management, presentation and interpretation of genome scans using GSCANDB.

artículo científico publicado en 2007

Manipulation of Dipeptidylpeptidase 10 in mouse and human in vivo and in vitro models indicates a protective role in asthma

artículo científico publicado en 2017

Molecular biology. The structure of change

artículo científico publicado en 2009

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

artículo científico publicado en 2014

More biology from the sequence

artículo científico publicado en 2001

Mutational Biases Drive Elevated Rates of Substitution at Regulatory Sites across Cancer Types

artículo científico publicado en 2016

Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome

artículo científico publicado en 2021

Occurrence and consequences of coding sequence insertions and deletions in Mammalian genomes

artículo científico publicado en 2004

Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex

artículo científico publicado en 2011

Pervasive lesion segregation shapes cancer genome evolution

artículo científico publicado en 2020

Problems of developing molecular diagnostic tests for opportunistic pathogens: the example of Pneumocystis jirovecii.

artículo científico publicado en 2006

Quantification of epigenetic biomarkers: an evaluation of established and emerging methods for DNA methylation analysis

artículo científico publicado en 2014

Quantifying single nucleotide variant detection sensitivity in exome sequencing

artículo científico publicado en 2013

Rapidly evolving human promoter regions

artículo científico publicado en 2008

Sequence characterization of teleost fish melanocortin receptors

artículo científico publicado en 2003

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

artículo científico publicado en 2022

Singleton SNPs in the human genome and implications for genome-wide association studies

artículo científico publicado en 2008

SuRFing the genomics wave: an R package for prioritising SNPs by functionality

artículo científico publicado en 2014

Sushi gets serious: the draft genome sequence of the pufferfish Fugu rubripes

artículo científico publicado en 2002

The (non)malignancy of cancerous amino acidic substitutions

artículo científico publicado en 2010

The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis

artículo científico publicado en 2004

The frequent evolutionary birth and death of functional promoters in mouse and human

artículo científico publicado en 2015

The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics

artículo científico publicado en 2002

The structure and evolution of the melanocortin and MCH receptors in fish and mammals

artículo científico publicado en 2003

The transcriptional landscape of the mammalian genome

artículo científico publicado en 2005

The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line.

artículo científico publicado en 2009

Variant detection sensitivity and biases in whole genome and exome sequencing

artículo científico publicado en 2014

Lista de obras de Martin S. Taylor

A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families

A high-resolution single nucleotide polymorphism genetic map of the mouse genome

A promoter-level mammalian expression atlas

Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model

Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs

Application of next generation qPCR and sequencing platforms to mRNA biomarker analysis

Bidirectional transcription initiation marks accessible chromatin and is not specific to enhancers

Bidirectional transcription marks accessible chromatin and is not specific to enhancers

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Comparative transcriptomics of primary cells in vertebrates

Conservation and divergence in Toll-like receptor 4-regulated gene expression in primary human versus mouse macrophages

Corrigendum: Genome-wide analysis of mammalian promoter architecture and evolution

Development and evaluation of a real-time PCR assay for detection of Pneumocystis jirovecii DNA in bronchoalveolar lavage fluid of HIV-infected patients

Dynamic and physical clustering of gene expression during epidermal barrier formation in differentiating keratinocytes

Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development.

Evidence of a Large-Scale Functional Organization of Mammalian Chromosomes: Authors' Reply.

Evolution of the human-specific microRNA miR-941.

Evolutionary constraints on the Disrupted in Schizophrenia locus

Evolutionary dependencies show paths to cancer development

Exome sequencing to detect rare variants associated with general cognitive ability: a pilot study.

Expression of the fras1/frem gene family during zebrafish development and fin morphogenesis

FRA2A is a CGG repeat expansion associated with silencing of AFF3

Functional annotation of human long noncoding RNAs via molecular phenotyping

Genetic analysis of pathways regulated by the von Hippel-Lindau tumor suppressor in Caenorhabditis elegans

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Genome-wide analysis of mammalian promoter architecture and evolution

Genome-wide genetic association of complex traits in heterogeneous stock mice

Genome-wide mapping of embedded ribonucleotides and other noncanonical nucleotides using emRiboSeq and EndoSeq.

Genomic anatomy of the Tyrp1 (brown) deletion complex

Heterotachy in mammalian promoter evolution

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects ⬇️

High resolution mapping of expression QTLs in heterogeneous stock mice in multiple tissues

Homozygous loss-of-function variants in European cosmopolitan and isolate populations

Identification of a localized nonsense-mediated decay pathway at the endoplasmic reticulum

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs

Identification of common genetic variation that modulates alternative splicing

Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions

Interaction of the anaphase-promoting complex/cyclosome and proteasome protein complexes with multiubiquitin chain-binding proteins

Lagging-strand replication shapes the mutational landscape of the genome

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

Management, presentation and interpretation of genome scans using GSCANDB.

Manipulation of Dipeptidylpeptidase 10 in mouse and human in vivo and in vitro models indicates a protective role in asthma

Molecular biology. The structure of change

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

More biology from the sequence

Mutational Biases Drive Elevated Rates of Substitution at Regulatory Sites across Cancer Types

Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome

Occurrence and consequences of coding sequence insertions and deletions in Mammalian genomes

Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex

Pervasive lesion segregation shapes cancer genome evolution

Problems of developing molecular diagnostic tests for opportunistic pathogens: the example of Pneumocystis jirovecii.

Quantification of epigenetic biomarkers: an evaluation of established and emerging methods for DNA methylation analysis

Quantifying single nucleotide variant detection sensitivity in exome sequencing

Rapidly evolving human promoter regions

Sequence characterization of teleost fish melanocortin receptors

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

Singleton SNPs in the human genome and implications for genome-wide association studies

SuRFing the genomics wave: an R package for prioritising SNPs by functionality

Sushi gets serious: the draft genome sequence of the pufferfish Fugu rubripes

The (non)malignancy of cancerous amino acidic substitutions

The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis

The frequent evolutionary birth and death of functional promoters in mouse and human

The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics

The structure and evolution of the melanocortin and MCH receptors in fish and mammals

The transcriptional landscape of the mammalian genome

The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line.

Variant detection sensitivity and biases in whole genome and exome sequencing