Lista de obras - Emily H Turner - Dominio Público Uruguay

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.

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

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

artículo científico publicado en 2015

Actionable, pathogenic incidental findings in 1,000 participants' exomes

artículo científico publicado en 2013

Applying Ancestry and Sex Computation as a Quality Control Tool in Targeted Next-Generation Sequencing

artículo científico publicado en 2016

Chemical cytometry: fluorescence-based single-cell analysis

artículo científico publicado en 2008

Chemical cytometry: the chemical analysis of single cells

article

Detection of green fluorescent protein in a single bacterium by capillary electrophoresis with laser-induced fluorescence

artículo científico publicado en 2007

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

artículo científico publicado en 2010

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

artículo científico publicado en 2013

Fine-scale patterns of population stratification confound rare variant association tests

artículo científico publicado en 2013

Frequent PIK3CA Mutations in Colorectal and Endometrial Tumors With 2 or More Somatic Mutations in Mismatch Repair Genes

artículo científico publicado en 2016

Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

artículo científico publicado en 2011

Improving performance of multigene panels for genomic analysis of cancer predisposition.

artículo científico publicado en 2016

Massively parallel exon capture and library-free resequencing across 16 genomes

artículo científico publicado en 2009

Methods for genomic partitioning

artículo científico publicado en 2009

Microsatellite instability detection by next generation sequencing

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

artículo científico publicado en 2012

Mutations in KCTD1 cause scalp-ear-nipple syndrome

artículo científico publicado en 2013

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

artículo científico publicado en 2013

Next generation sequence analysis for mitochondrial disorders

scientific article published on 23 October 2009

Parallel, tag-directed assembly of locally derived short sequence reads

artículo científico publicado en 2010

Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition

artículo científico publicado en 2010

Reaction of fluorogenic reagents with proteins I. Mass spectrometric characterization of the reaction with 3-(2-furoyl)quinoline-2-carboxaldehyde, Chromeo P465, and Chromeo P503.

artículo científico publicado en 2008

Reaction of fluorogenic reagents with proteins II: capillary electrophoresis and laser-induced fluorescence properties of proteins labeled with Chromeo P465.

artículo científico publicado en 2008

Reaction of fluorogenic reagents with proteins III. Spectroscopic and electrophoretic behavior of proteins labeled with Chromeo P503

artículo científico publicado en 2008

Single Bacterium Proteomics: Analysis of the Reca Protein in Single Deinococcus Radiodurans ⬇️

doctoral dissertation by Emily H Turner, Chemistry, University of Washington, 2007

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

artículo científico publicado en 2012

Target-enrichment strategies for next-generation sequencing

artículo científico publicado en 2010

Targeted capture and massively parallel sequencing of 12 human exomes

artículo científico publicado en 2009

Targeted enrichment of specific regions in the human genome by array hybridization

artículo científico publicado en 2010

The million mutation project: a new approach to genetics in Caenorhabditis elegans

artículo científico publicado en 2013

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta

artículo científico publicado en 2013

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

artículo científico publicado en 2012

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

artículo científico publicado en 2014

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

artículo científico publicado en 2012

Lista de obras de Emily H Turner

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.

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

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Actionable, pathogenic incidental findings in 1,000 participants' exomes

Applying Ancestry and Sex Computation as a Quality Control Tool in Targeted Next-Generation Sequencing

Chemical cytometry: fluorescence-based single-cell analysis

Chemical cytometry: the chemical analysis of single cells

Detection of green fluorescent protein in a single bacterium by capillary electrophoresis with laser-induced fluorescence

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

Fine-scale patterns of population stratification confound rare variant association tests

Frequent PIK3CA Mutations in Colorectal and Endometrial Tumors With 2 or More Somatic Mutations in Mismatch Repair Genes

Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

Improving performance of multigene panels for genomic analysis of cancer predisposition.

Massively parallel exon capture and library-free resequencing across 16 genomes

Methods for genomic partitioning

Microsatellite instability detection by next generation sequencing

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

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

Mutations in KCTD1 cause scalp-ear-nipple syndrome

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

Next generation sequence analysis for mitochondrial disorders

Parallel, tag-directed assembly of locally derived short sequence reads

Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition

Reaction of fluorogenic reagents with proteins I. Mass spectrometric characterization of the reaction with 3-(2-furoyl)quinoline-2-carboxaldehyde, Chromeo P465, and Chromeo P503.

Reaction of fluorogenic reagents with proteins II: capillary electrophoresis and laser-induced fluorescence properties of proteins labeled with Chromeo P465.

Reaction of fluorogenic reagents with proteins III. Spectroscopic and electrophoretic behavior of proteins labeled with Chromeo P503

Single Bacterium Proteomics: Analysis of the Reca Protein in Single Deinococcus Radiodurans ⬇️

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Target-enrichment strategies for next-generation sequencing

Targeted capture and massively parallel sequencing of 12 human exomes

Targeted enrichment of specific regions in the human genome by array hybridization

The million mutation project: a new approach to genetics in Caenorhabditis elegans

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia