Lista de obras -

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

artículo científico publicado en 2009

A defect of sphingolipid metabolism modifies the properties of normal appearing white matter in multiple sclerosis

artículo científico publicado en 2008

A massive expansion of effector genes underlies gall-formation in the wheat pest Mayetiola destructor.

artículo científico publicado en 2015

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

artículo científico publicado en 2013

A second generation human haplotype map of over 3.1 million SNPs

artículo científico publicado en 2007

Accumulation of molecular aberrations distinctive to hepatocellular carcinoma progression

artículo científico publicado en 2020

Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase

artículo científico publicado en 2011

Amphetamine modulates excitatory neurotransmission through endocytosis of the glutamate transporter EAAT3 in dopamine neurons

artículo científico publicado en 2014

Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT Dysregulation.

artículo científico publicado en 2016

Assessing structural variation in a personal genome-towards a human reference diploid genome.

artículo científico publicado en 2015

Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

artículo científico publicado en 2020

Characterizing the cancer genome in lung adenocarcinoma

artículo científico publicado en 2007

Cofilin activation in peripheral CD4 T cells of HIV-1 infected patients: a pilot study

artículo científico publicado en 2008

Comparative genome sequencing of Drosophila pseudoobscura: chromosomal, gene, and cis-element evolution

artículo científico publicado en 2005

Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients

artículo científico

Comprehensive Characterization of Cancer Driver Genes and Mutations

article

Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma

artículo científico publicado en 2015

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

artículo científico publicado en 2016

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

article

Database resources of the National Center for Biotechnology Information

artículo científico publicado en 2007

Database resources of the National Center for Biotechnology Information

artículo científico publicado en 2005

Demographic histories and patterns of linkage disequilibrium in Chinese and Indian rhesus macaques

artículo científico publicado en 2007

Direct selection of human genomic loci by microarray hybridization

artículo científico publicado en 2007

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

artículo científico publicado en 2007

Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1

artículo científico publicado en 2011

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy

artículo científico publicado en 2011

Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence

artículo científico publicado en 2002

Gene expression profiling and immune cell-type deconvolution highlight robust disease progression and survival markers in multiple cohorts of CTCL patients

scientific article published on 31 May 2018

Genetic mechanisms of immune evasion in colorectal cancer

artículo científico publicado en 2018

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

artículo científico publicado en 2004

Genome-wide detection and characterization of positive selection in human populations

artículo científico publicado en 2007

Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds

artículo científico publicado en 2009

Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design

scientific article published on 01 November 2019

Genomic analysis of the nuclear receptor family: new insights into structure, regulation, and evolution from the rat genome

artículo científico publicado en 2004

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

artículo científico publicado en 2007

Initial testing (stage 1) of the PARP inhibitor BMN 673 by the pediatric preclinical testing program: PALB2 mutation predicts exceptional in vivo response to BMN 673.

artículo científico publicado en 2014

Integrating common and rare genetic variation in diverse human populations

artículo científico publicado en 2010

Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival

artículo científico publicado en 2020

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease

artículo científico publicado en 2009

Novel somatic and germline mutations in intracranial germ cell tumours.

artículo científico publicado en 2014

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

artículo científico publicado en 2012

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

scientific article published on 21 September 2020

SV-STAT accurately detects structural variation via alignment to reference-based assemblies.

artículo científico publicado en 2016

Somatic mutations affect key pathways in lung adenocarcinoma

artículo científico publicado en 2008

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

artículo científico publicado en 2011

Telomere maintenance mechanisms define clinical outcome in high-risk neuroblastoma

scientific article published on 14 April 2020

The DNA sequence of the human X chromosome

artículo científico publicado en 2005

The DNA sequence, annotation and analysis of human chromosome 3

artículo científico publicado en 2006

The complete genome of an individual by massively parallel DNA sequencing

artículo científico publicado en 2008

The finished DNA sequence of human chromosome 12

artículo científico publicado en 2006

The genome sequence of taurine cattle: a window to ruminant biology and evolution

artículo científico publicado en 2009

The major genetic determinants of HIV-1 control affect HLA class I peptide presentation

artículo científico publicado en 2010

The somatic genomic landscape of chromophobe renal cell carcinoma

artículo científico publicado en 2014

Unique features of a global human ectoparasite identified through sequencing of the bed bug genome ⬇️

artículo científico publicado en 2016

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

artículo científico publicado en 2010

Lista de obras de

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

A defect of sphingolipid metabolism modifies the properties of normal appearing white matter in multiple sclerosis

A massive expansion of effector genes underlies gall-formation in the wheat pest Mayetiola destructor.

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

A second generation human haplotype map of over 3.1 million SNPs

Accumulation of molecular aberrations distinctive to hepatocellular carcinoma progression

Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase

Amphetamine modulates excitatory neurotransmission through endocytosis of the glutamate transporter EAAT3 in dopamine neurons

Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT Dysregulation.

Assessing structural variation in a personal genome-towards a human reference diploid genome.

Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Characterizing the cancer genome in lung adenocarcinoma

Cofilin activation in peripheral CD4 T cells of HIV-1 infected patients: a pilot study

Comparative genome sequencing of Drosophila pseudoobscura: chromosomal, gene, and cis-element evolution

Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients

Comprehensive Characterization of Cancer Driver Genes and Mutations

Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

Database resources of the National Center for Biotechnology Information

Database resources of the National Center for Biotechnology Information

Demographic histories and patterns of linkage disequilibrium in Chinese and Indian rhesus macaques

Direct selection of human genomic loci by microarray hybridization

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy

Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence

Gene expression profiling and immune cell-type deconvolution highlight robust disease progression and survival markers in multiple cohorts of CTCL patients

Genetic mechanisms of immune evasion in colorectal cancer

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

Genome-wide detection and characterization of positive selection in human populations

Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds

Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design

Genomic analysis of the nuclear receptor family: new insights into structure, regulation, and evolution from the rat genome

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Initial testing (stage 1) of the PARP inhibitor BMN 673 by the pediatric preclinical testing program: PALB2 mutation predicts exceptional in vivo response to BMN 673.

Integrating common and rare genetic variation in diverse human populations

Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease

Novel somatic and germline mutations in intracranial germ cell tumours.

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

SV-STAT accurately detects structural variation via alignment to reference-based assemblies.

Somatic mutations affect key pathways in lung adenocarcinoma

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Telomere maintenance mechanisms define clinical outcome in high-risk neuroblastoma

The DNA sequence of the human X chromosome

The DNA sequence, annotation and analysis of human chromosome 3

The complete genome of an individual by massively parallel DNA sequencing

The finished DNA sequence of human chromosome 12

The genome sequence of taurine cattle: a window to ruminant biology and evolution

The major genetic determinants of HIV-1 control affect HLA class I peptide presentation

The somatic genomic landscape of chromophobe renal cell carcinoma

Unique features of a global human ectoparasite identified through sequencing of the bed bug genome ⬇️

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy