Lista de obras - Karyn Megy - Dominio Público Uruguay

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

artículo científico publicado en 2016

Analysis of public single nucleotide polymorphisms in commercial pig populations.

artículo científico publicado en 2005

Comparative genomics allows the discovery of cis-regulatory elements in mosquitoes

artículo científico publicado en 2009

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

article

Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

artículo científico publicado en 2019

De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family

scientific article published on 17 June 2019

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

scientific article published on 01 December 2019

Ensembl 2007

artículo científico publicado en 2007

Ensembl 2008

artículo científico publicado en 2008

Ensembl Genomes: an integrative resource for genome-scale data from non-vertebrate species.

artículo científico publicado en 2011

Ensembl Genomes: extending Ensembl across the taxonomic space

artículo científico publicado en 2009

Expression Atlas update--a database of gene and transcript expression from microarray- and sequencing-based functional genomics experiments

artículo científico publicado en 2014

Expression Atlas update--an integrated database of gene and protein expression in humans, animals and plants.

artículo científico publicado en 2015

Genome of Rhodnius prolixus, an insect vector of Chagas disease, reveals unique adaptations to hematophagy and parasite infection

artículo científico publicado en 2015

Genome sequence of Aedes aegypti, a major arbovirus vector

artículo científico publicado en 2007

Genomic insights into the Ixodes scapularis tick vector of Lyme disease

artículo científico publicado en 2016

Genomic resources for invertebrate vectors of human pathogens, and the role of VectorBase

artículo científico publicado en 2009

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

scientific article published on 01 December 2019

Heart specific genes revealed by EST sampling.

artículo científico publicado en 2002

How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study

artículo científico publicado en 2019

Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy

artículo científico publicado en 2020

Mapping of the porcine serine carboxypeptidase vitellogenic-like gene (CPVL) to chromosome 18.

artículo científico publicado en 2005

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants

scientific article published on 15 October 2019

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

artículo científico publicado en 2020

Positional clustering of differentially expressed genes on human chromosomes 20, 21 and 22

artículo científico publicado en 2003

Prospecting for pig single nucleotide polymorphisms in the human genome: have we struck gold?

artículo científico publicado en 2006

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

scientific article published on 17 July 2020

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

artículo científico publicado en 2016

Transcriptomic analysis of insecticide resistance in the lymphatic filariasis vector Culex quinquefasciatus

artículo científico publicado en 2019

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

article

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

artículo científico publicado en 2020

Lista de obras de Karyn Megy

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Analysis of public single nucleotide polymorphisms in commercial pig populations.

Comparative genomics allows the discovery of cis-regulatory elements in mosquitoes

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Ensembl 2007

Ensembl 2008

Ensembl Genomes: an integrative resource for genome-scale data from non-vertebrate species.

Ensembl Genomes: extending Ensembl across the taxonomic space

Expression Atlas update--a database of gene and transcript expression from microarray- and sequencing-based functional genomics experiments

Expression Atlas update--an integrated database of gene and protein expression in humans, animals and plants.

Genome of Rhodnius prolixus, an insect vector of Chagas disease, reveals unique adaptations to hematophagy and parasite infection

Genome sequence of Aedes aegypti, a major arbovirus vector

Genomic insights into the Ixodes scapularis tick vector of Lyme disease

Genomic resources for invertebrate vectors of human pathogens, and the role of VectorBase

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Heart specific genes revealed by EST sampling.

How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study

Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy

Mapping of the porcine serine carboxypeptidase vitellogenic-like gene (CPVL) to chromosome 18.

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Positional clustering of differentially expressed genes on human chromosomes 20, 21 and 22

Prospecting for pig single nucleotide polymorphisms in the human genome: have we struck gold?

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

Transcriptomic analysis of insecticide resistance in the lymphatic filariasis vector Culex quinquefasciatus

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

Whole-genome sequencing of a sporadic primary immunodeficiency cohort