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Author Details

Alice C Young
1986
30
26
PMIDPaper TitleJournal TitlePublished Year
36789433Genomic Landscape of Patients with Germline <i>RUNX1</i> Variants and Familial Platelet Disorder with Myeloid Malignancy.bioRxiv2023
38077089The Complete Sequence and Comparative Analysis of Ape Sex Chromosomes.bioRxiv2023
33681653Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and <i>SAMD12</i> intronic repeat expansion.Epilepsia Open2021
29098742A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.Hum Mutat2018
26139325Somatic mutational landscape of AML with inv(16) or t(8;21) identifies patterns of clonal evolution in relapse leukemia.Leukemia2016
26857064Robust Detection of DNA Hypermethylation of ZNF154 as a Pan-Cancer Locus with in Silico Modeling for Blood-Based Diagnostic Development.J Mol Diagn2016
27353756Plasmid Dynamics in KPC-Positive Klebsiella pneumoniae during Long-Term Patient Colonization.mBio2016
24603370Gene-based sequencing identifies lipid-influencing variants with ethnicity-specific effects in African Americans.PLoS Genet2014
25232178Single-molecule sequencing to track plasmid diversity of hospital-associated carbapenemase-producing Enterobacteriaceae.Sci Transl Med2014
22585771Incidental medical information in whole-exome sequencing.Pediatrics2012
21767969Personalized genomic medicine: lessons from the exome.Mol Genet Metab2011
21258341TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.Nat Genet2011
20576142Light whole genome sequence for SNP discovery across domestic cat breeds.BMC Genomics2010
19767417The completion of the Mammalian Gene Collection (MGC).Genome Res2009
19478181Topographical and temporal diversity of the human skin microbiome.Science2009
19602640The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.Genome Res2009
18502944A diversity profile of the human skin microbiota.Genome Res2008
17571346Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.Nature2007
17567995Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome.Genome Res2007
16672307Sequencing and analysis of 10,967 full-length cDNA clones from Xenopus laevis and Xenopus tropicalis reveals post-tetraploidization transcriptome remodeling.Genome Res2006
14732688Identifying gene regulatory elements by genome-wide recovery of DNase hypersensitive sites.Proc Natl Acad Sci U S A2004
15479945An intermediate grade of finished genomic sequence suitable for comparative analyses.Genome Res2004
12917688Comparative analyses of multi-species sequences from targeted genomic regions.Nature2003
12477932Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.Proc Natl Acad Sci U S A2002
12034835Systematic sequencing of cDNA clones using the transposon Tn5.Nucleic Acids Res2002
2165569Structure of a cannabinoid receptor and functional expression of the cloned cDNA.Nature1990
3272174Cloning and expression of the human and rat m5 muscarinic acetylcholine receptor genes.Neuron1988
3037705Identification of a family of muscarinic acetylcholine receptor genes.Science1987
3479225A cDNA encoding the precursor of the rat neuropeptide, neurokinin B.Brain Research1987
3003687The complete coding sequence of the human raf oncogene and the corresponding structure of the c-raf-1 gene.Nucleic Acids Research1986
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