Author details

Full Name

Emily H Turner

Affiliation

ORCID

Career Start Year

2006

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
34464598	Collaborative science to advance gene therapies in resource-limited parts of the world.	Molecular Therapy	2021
32998595	Bringing Gene Therapies for HIV Disease to Resource-Limited Parts of the World.	Human Gene Therapy	2021
27124912	Applying Ancestry and Sex Computation as a Quality Control Tool in Targeted Next-Generation Sequencing.	Am J Clin Pathol	2016
27302833	Frequent PIK3CA Mutations in Colorectal and Endometrial Tumors With 2 or More Somatic Mutations in Mismatch Repair Genes.	Gastroenterology	2016
26845104	Improving performance of multigene panels for genomic analysis of cancer predisposition.	Genet Med	2016
25637381	Actionable exomic incidental findings in 6503 participants: challenges of variant classification.	Genome Res	2015
24507775	Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.	Am J Hum Genet	2014
24218363	A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.	Hum Mol Genet	2014
24987110	Microsatellite instability detection by next generation sequencing.	Clin Chem	2014
23499310	WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.	Am J Hum Genet	2013
23861739	Fine-scale patterns of population stratification confound rare variant association tests.	PLoS One	2013
23800452	The million mutation project: a new approach to genetics in Caenorhabditis elegans.	Genome Res	2013
24055112	Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.	Am J Hum Genet	2013
24055113	Actionable, pathogenic incidental findings in 1,000 participants' exomes.	Am J Hum Genet	2013
23239648	"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.	Am J Med Genet A	2013
23561849	Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.	Am J Hum Genet	2013
23273567	Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.	Am J Hum Genet	2013
23261302	Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.	Am J Hum Genet	2013
23541344	Mutations in KCTD1 cause scalp-ear-nipple syndrome.	Am J Hum Genet	2013
23160955	Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.	Science	2012
22495309	Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.	Nature	2012
23040496	Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.	Am J Hum Genet	2012
21685127	Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee.	Genome Res	2011
20582915	Targeted enrichment of specific regions in the human genome by array hybridization.	Curr Protoc Hum Genet	2010
21143862	Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition.	Genome Biol	2010
20711175	Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.	Nat Genet	2010
20081835	Parallel, tag-directed assembly of locally derived short sequence reads.	Nat Methods	2010
20111037	Target-enrichment strategies for next-generation sequencing.	Nat Methods	2010
19852779	Next generation sequence analysis for mitochondrial disorders.	Genome Med	2009
19684571	Targeted capture and massively parallel sequencing of 12 human exomes.	Nature	2009
19630561	Methods for genomic partitioning.	Annu Rev Genomics Hum Genet	2009
19349981	Massively parallel exon capture and library-free resequencing across 16 genomes.	Nat Methods	2009
18482729	Reaction of fluorogenic reagents with proteins III. Spectroscopic and electrophoretic behavior of proteins labeled with Chromeo P503.	Journal of Chromatography A	2008
20636078	Chemical cytometry: fluorescence-based single-cell analysis.	Annual Review of Analytical Chemistry	2008
17955216	Chemical cytometry: the chemical analysis of single cells.	Analytical and Bioanalytical Chemistry	2008
18479688	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.	Journal of Chromatography A	2008
18479693	Reaction of fluorogenic reagents with proteins II: capillary electrophoresis and laser-induced fluorescence properties of proteins labeled with Chromeo P465.	Journal of Chromatography A	2008
17222051	Detection of green fluorescent protein in a single bacterium by capillary electrophoresis with laser-induced fluorescence.	Analytical Chemistry	2007
16771542	Bioanalytical applications of capillary electrophoresis.	Analytical Chemistry	2006