List of works - Dan Koboldt - Paulina

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List of works by Dan Koboldt

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A second generation human haplotype map of over 3.1 million SNPs

scientific article

Somatic mutations affect key pathways in lung adenocarcinoma

scientific article

Genome-wide detection and characterization of positive selection in human populations

scientific article

Recurring mutations found by sequencing an acute myeloid leukemia genome

scientific article

DNMT3A Mutations in Acute Myeloid Leukemia

scientific article (publication date: 16 December 2010)

Genome remodelling in a basal-like breast cancer metastasis and xenograft

scientific article

Whole-genome analysis informs breast cancer response to aromatase inhibition

scientific article

Comparison of C. elegans and C. briggsae genome sequences reveals extensive conservation of chromosome organization and synteny

scientific article published on 3 July 2007

Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML.

scientific article

Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci

scientific article

Evidence for SNP-SNP interaction identified through targeted sequencing of cleft case-parent trios.

scientific article published on 26 December 2016

The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy

scientific article published on 01 April 2020