Author details

Full Name

Douglas R Smith

Affiliation

ORCID

Career Start Year

1987

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
31056551	Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.	Genet Med	2019
29145497	Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans.	PLoS ONE	2017
28377535	<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.	J Med Genet	2017
27853518	Metagenomic analysis of medicinal samples; pathogenic bacteria, toxigenic fungi, and beneficial microbes grow in culture-based yeast and mold tests.	F1000Research	2016
27088604	The Atlantic salmon genome provides insights into rediploidization.	Nature	2016
21163964	The genetic landscape of the childhood cancer medulloblastoma.	Science	2011
20576142	Light whole genome sequence for SNP discovery across domestic cat breeds.	BMC Genomics	2010
18775913	Rapid whole-genome mutational profiling using next-generation sequencing technologies.	Genome Res	2008
18057021	Assembly reconciliation.	Bioinformatics	2008
18157130	Closing gaps in the human genome with fosmid resources generated from multiple individuals.	Nat Genet	2008
18622037	Polytene chromosomal maps of 11 Drosophila species: the order of genomic scaffolds inferred from genetic and physical maps.	Genetics	2008
18552854	Isoform discovery by targeted cloning, 'deep-well' pooling and parallel sequencing.	Nat Methods	2008
18772397	Core signaling pathways in human pancreatic cancers revealed by global genomic analyses.	Science	2008
18772396	An integrated genomic analysis of human glioblastoma multiforme.	Science	2008
18451855	Mapping and sequencing of structural variation from eight human genomes.	Nature	2008
17137733	Improved repeat identification and masking in Dipterans.	Gene	2007
17994087	Evolution of genes and genomes on the Drosophila phylogeny.	Nature	2007
17994088	Discovery of functional elements in 12 Drosophila genomes using evolutionary signatures.	Nature	2007
17975172	Initial sequence and comparative analysis of the cat genome.	Genome Res	2007
17932254	The genomic landscapes of human breast and colorectal cancers.	Science	2007
17495918	Completing the map of human genetic variation.	Nature	2007
16341006	Genome sequence, comparative analysis and haplotype structure of the domestic dog.	Nature	2005
15774024	Serendipitous discovery of Wolbachia genomes in multiple Drosophila species.	Genome Biol	2005
15998463	Correction: Serendipitous discovery of Wolbachia genomes in multiple Drosophila species.	Genome Biol	2005
15164054	The DNA sequence and comparative analysis of human chromosome 10.	Nature	2004
15239832	Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes.	Genome Biol	2004
14872061	Protein interaction mapping on a functional shotgun sequence of Rickettsia sibirica.	Nucleic Acids Research	2004
15057822	Genome sequence of the Brown Norway rat yields insights into mammalian evolution.	Nature	2004
12695330	Exo-proofreading, a versatile SNP scoring technology.	Genome Research	2003
12874063	Genome visualization made fast and simple.	Bioinformatics	2003
12466850	Initial sequencing and comparative analysis of the mouse genome.	Nature	2002
11237011	Initial sequencing and analysis of the human genome.	Nature	2001
11466286	Genome sequence and comparative analysis of the solvent-producing bacterium Clostridium acetobutylicum.	Journal of Bacteriology	2001
9923682	Genomic-sequence comparison of two unrelated isolates of the human gastric pathogen Helicobacter pylori.	Nature	1999
10027192	An efficient, automatable template preparation for high throughput sequencing.		1998
9267804	Multiplex sequencing of 1.5 Mb of the Mycobacterium leprae genome.	Genome Res	1997
9371463	Complete genome sequence of Methanobacterium thermoautotrophicum deltaH: functional analysis and comparative genomics.	Journal of Bacteriology	1997
8597794	Amplification of the copy number of YACs.	Methods in Molecular Biology	1996
8987460	Microbial pathogen genomes--new strategies for identifying therapeutics and vaccine targets.	Trends in Biotechnology	1996
8439726	Incorporation of copy-number control elements into yeast artificial chromosomes by targeted homologous recombination.	Mammalian Genome	1993
8290369	Reduced occurrence of chimeric YACs in recombination-deficient hosts.	Nucleic Acids Research	1993
8462878	A human genome YAC library in a selectable high-copy-number vector.	Gene	1993
1336106	Copy number amplification of yeast artificial chromosomes.	Methods in Enzymology	1992
1362683	Ligation-mediated PCR of restriction fragments from large DNA molecules.		1992
2236036	Amplification of large artificial chromosomes.	Proceedings of the National Academy of Sciences of the United States of America	1990
2911467	A 12 megabase restriction map at the cystic fibrosis locus.	Nucleic Acids Research	1989
2568193	Cystic fibrosis: diagnostic testing and the search for the gene.	Clinical Chemistry	1989
2568196	Construction of a linkage map of the human genome, and its application to mapping genetic diseases.	Clinical Chemistry	1989
3664638	A genetic linkage map of the human genome.	Cell	1987