Lista de obras - Martin Kircher - Dominio Público Uruguay

A Draft Sequence of the Neandertal Genome

artículo científico publicado en 2010

A general framework for estimating the relative pathogenicity of human genetic variants

artículo científico publicado en 2014

A high-coverage genome sequence from an archaic Denisovan individual

artículo científico publicado en 2012

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

artículo científico publicado en 2013

A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.

artículo científico publicado en 2016

A systematic evaluation of the design and context dependencies of massively parallel reporter assays

artículo científico publicado en 2020

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

scientific journal article

Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort

artículo científico publicado en 2015

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

artículo científico publicado en 2017

Addressing challenges in the production and analysis of illumina sequencing data

artículo científico publicado en 2011

Analysis of high-throughput ancient DNA sequencing data

artículo científico publicado en 2012

Ancient gene flow from early modern humans into Eastern Neanderthals

artículo científico publicado en 2016

Author Correction: lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements

artículo científico publicado en 2020

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

artículo científico publicado en 2018

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

artículo científico publicado en 2014

CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores

artículo científico publicado en 2021

CADD: predicting the deleteriousness of variants throughout the human genome

Characterization of ancient and modern genomes by SNP detection and phylogenomic and metagenomic analysis using PALEOMIX.

artículo científico publicado en 2014

Comparative population genomics of the ejaculate in humans and the great apes

artículo científico publicado en 2013

Concurrent genome and epigenome editing by CRISPR-mediated sequence replacement

scientific article published on 18 November 2019

Corrigendum: A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.

artículo científico publicado en 2018

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients

artículo científico publicado en 2018

Deep proteome and transcriptome mapping of a human cancer cell line

artículo científico publicado en 2011

Denisova admixture and the first modern human dispersals into Southeast Asia and Oceania

artículo científico publicado en 2011

Double indexing overcomes inaccuracies in multiplex sequencing on the Illumina platform

artículo científico publicado en 2011

Evaluating intra- and inter-individual variation in the human placental transcriptome

artículo científico publicado en 2015

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

artículo científico publicado en 2015

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

artículo científico publicado en 2015

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

artículo científico publicado en 2016

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

artículo científico publicado en 2018

Genetic history of an archaic hominin group from Denisova Cave in Siberia

artículo científico publicado en 2010

HemoMIPs-Automated analysis and result reporting pipeline for targeted sequencing data

artículo científico publicado en 2020

High-throughput DNA sequencing--concepts and limitations

artículo científico publicado en 2010

Illumina sequencing library preparation for highly multiplexed target capture and sequencing

artículo científico publicado en 2010

Improved base calling for the Illumina Genome Analyzer using machine learning strategies

artículo científico publicado en 2009

Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay

artículo científico publicado en 2019

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

artículo científico publicado en 2013

Multiplex assessment of protein variant abundance by massively parallel sequencing

article

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

artículo científico publicado en 2014

Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

artículo científico publicado en 2018

Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation

artículo científico publicado en 2019

Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative

scientific article published on 18 May 2017

Opsins in onychophora (velvet worms) suggest a single origin and subsequent diversification of visual pigments in arthropods

artículo científico publicado en 2012

Patterns of coding variation in the complete exomes of three Neandertals.

artículo científico publicado en 2014

Primate iPS cells as tools for evolutionary analyses

artículo científico publicado en 2014

Removal of deaminated cytosines and detection of in vivo methylation in ancient DNA.

artículo científico publicado en 2009

Road blocks on paleogenomes--polymerase extension profiling reveals the frequency of blocking lesions in ancient DNA

artículo científico publicado en 2010

Running spell-check to identify regulatory variants

artículo científico publicado en 2015

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. ⬇️

artículo científico publicado en 2016

Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution

scientific article published on 08 August 2019

Somatic mutations in cerebral cortical malformations

artículo científico publicado en 2014

Structural conservation versus functional divergence of maternally expressed microRNAs in the Dlk1/Gtl2 imprinting region

artículo científico publicado en 2008

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

artículo científico publicado en 2015

The complete genome sequence of a Neanderthal from the Altai Mountains

artículo científico publicado en 2014

The earliest transcribed zygotic genes are short, newly evolved, and different across species

artículo científico publicado en 2014

The evolution of gene expression levels in mammalian organs

artículo científico publicado en 2011

The evolutionary and phylogeographic history of woolly mammoths: a comprehensive mitogenomic analysis

artículo científico publicado en 2017

The impact of different negative training data on regulatory sequence predictions

artículo científico publicado en 2020

Transcriptomes of germinal zones of human and mouse fetal neocortex suggest a role of extracellular matrix in progenitor self-renewal

artículo científico publicado en 2012

Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.

artículo científico publicado en 2015

lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements

artículo científico publicado en 2020

Lista de obras de Martin Kircher

A Draft Sequence of the Neandertal Genome

A general framework for estimating the relative pathogenicity of human genetic variants

A high-coverage genome sequence from an archaic Denisovan individual

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.

A systematic evaluation of the design and context dependencies of massively parallel reporter assays

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

Addressing challenges in the production and analysis of illumina sequencing data

Analysis of high-throughput ancient DNA sequencing data

Ancient gene flow from early modern humans into Eastern Neanderthals

Author Correction: lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores

CADD: predicting the deleteriousness of variants throughout the human genome

Characterization of ancient and modern genomes by SNP detection and phylogenomic and metagenomic analysis using PALEOMIX.

Comparative population genomics of the ejaculate in humans and the great apes

Concurrent genome and epigenome editing by CRISPR-mediated sequence replacement

Corrigendum: A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients

Deep proteome and transcriptome mapping of a human cancer cell line

Denisova admixture and the first modern human dispersals into Southeast Asia and Oceania

Double indexing overcomes inaccuracies in multiplex sequencing on the Illumina platform

Evaluating intra- and inter-individual variation in the human placental transcriptome

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

Genetic history of an archaic hominin group from Denisova Cave in Siberia

HemoMIPs-Automated analysis and result reporting pipeline for targeted sequencing data

High-throughput DNA sequencing--concepts and limitations

Illumina sequencing library preparation for highly multiplexed target capture and sequencing

Improved base calling for the Illumina Genome Analyzer using machine learning strategies

Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

Multiplex assessment of protein variant abundance by massively parallel sequencing

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation

Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative

Opsins in onychophora (velvet worms) suggest a single origin and subsequent diversification of visual pigments in arthropods

Patterns of coding variation in the complete exomes of three Neandertals.

Primate iPS cells as tools for evolutionary analyses

Removal of deaminated cytosines and detection of in vivo methylation in ancient DNA.

Road blocks on paleogenomes--polymerase extension profiling reveals the frequency of blocking lesions in ancient DNA

Running spell-check to identify regulatory variants

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. ⬇️

Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution

Somatic mutations in cerebral cortical malformations

Structural conservation versus functional divergence of maternally expressed microRNAs in the Dlk1/Gtl2 imprinting region

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

The complete genome sequence of a Neanderthal from the Altai Mountains

The earliest transcribed zygotic genes are short, newly evolved, and different across species

The evolution of gene expression levels in mammalian organs

The evolutionary and phylogeographic history of woolly mammoths: a comprehensive mitogenomic analysis

The impact of different negative training data on regulatory sequence predictions

Transcriptomes of germinal zones of human and mouse fetal neocortex suggest a role of extracellular matrix in progenitor self-renewal

Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.

lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements