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List of works by Kelly A. Frazer

A genome-wide approach to identifying novel-imprinted genes.

scientific article

A large-scale exome array analysis of venous thromboembolism

scientific article published on 19 January 2019

A mutation in IFT43 causes non-syndromic recessive retinal degeneration.

scientific article published on 18 September 2017

A second generation human haplotype map of over 3.1 million SNPs

scientific article

ADAR1 Activation Drives Leukemia Stem Cell Self-Renewal by Impairing Let-7 Biogenesis.

scientific article published on 7 June 2016

ADAR1 promotes malignant progenitor reprogramming in chronic myeloid leukemia.

scientific article published on 28 December 2012

Activation of hedgehog signaling associates with early disease progression in chronic lymphocytic leukemia

scientific article published on 28 March 2019

Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits

scientific article published on 30 September 2019

An RNA editing fingerprint of cancer stem cell reprogramming

scientific article

Association of Human iPSC Gene Signatures and X Chromosome Dosage with Two Distinct Cardiac Differentiation Trajectories

scientific article published on 24 October 2019

Associations Between Common and Rare Exonic Genetic Variants and Serum Levels of 20 Cardiovascular-Related Proteins: The Tromsø Study

scientific article published on 21 June 2016

Author Correction: Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants

scientific article published on 01 September 2020

Author Correction: Longitudinal assessment of tumor development using cancer avatars derived from genetically engineered pluripotent stem cells

scientific article published on 20 April 2020

BAP1 mutation is a frequent somatic event in peritoneal malignant mesothelioma.

scientific article

Biased estimates of clonal evolution and subclonal heterogeneity can arise from PCR duplicates in deep sequencing experiments

scientific article

Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21.

scientific article published in November 2001

Cell-Surface Marker Signature for Enrichment of Ventricular Cardiomyocytes Derived from Human Embryonic Stem Cells

scientific article published on 16 August 2018

Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants

scientific article published on 19 February 2020

Common deletions and SNPs are in linkage disequilibrium in the human genome

scientific article published on 04 December 2005

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD

scientific article (publication date: August 2015)

Correction: Gustafson et al., Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. Genes 2017, 8, 210.

scientific article

Decoding the human genome

scientific article

Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing ⬇️

scientific article published on December 20, 2011

Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats

scientific article published on 10 June 2020

Discovery of novel plasma biomarkers for future incident venous thromboembolism by untargeted synchronous precursor selection mass spectrometry proteomics

scientific article published on 06 August 2018

Effect of prothrombotic genotypes on the risk of venous thromboembolism in patients with and without ischemic stroke. The Tromsø Study

scientific article published on 12 March 2019

Effective filtering strategies to improve data quality from population-based whole exome sequencing studies.

scientific article

Efficient Prioritization of Multiple Causal eQTL Variants via Sparse Polygenic Modeling

scientific article published on 26 October 2017

Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.

scientific article

Experimental selection of hypoxia-tolerant Drosophila melanogaster

scientific article

Faithful expression of the human 5q31 cytokine cluster in transgenic mice.

scientific article published on May 2000

Fibrinogen gamma gene rs2066865 and risk of cancer-related venous thromboembolism

scientific article published on 03 October 2019

Functional screening of an asthma QTL in YAC transgenic mice.

scientific article published on October 1999

Genetic ancestry of participants in the National Children's Study

scientific article

Genetic and epigenetic profiling of CLL disease progression reveals limited somatic evolution and suggests a relationship to memory-cell development

scientific article published on 10 April 2015

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

scientific article

Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.

scientific article

Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism

scientific article published on 01 November 2019

Genomic interval engineering of mice identifies a novel modulator of triglyceride production

scientific journal article

Glioblastoma cellular cross-talk converges on NF-κB to attenuate EGFR inhibitor sensitivity.

scientific article

High-Resolution Mutational Profiling Suggests the Genetic Validity of Glioblastoma Patient-Derived Pre-Clinical Models ⬇️

scientific article published on February 18, 2013

High-Throughput and Cost-Effective Characterization of Induced Pluripotent Stem Cells.

scientific article

High-level ROR1 associates with accelerated disease progression in chronic lymphocytic leukemia

scientific article

High-resolution whole-genome association study of Parkinson disease.

scientific article

Homozygous GNAS 393C-allele carriers with locally advanced esophageal cancer fail to benefit from platinum-based preoperative chemoradiotherapy

scientific article published on 02 July 2014

Human genetic variation and its contribution to complex traits

scientific article (publication date: April 2009)

Human iPSC-Derived Retinal Pigment Epithelium: A Model System for Prioritizing and Functionally Characterizing Causal Variants at AMD Risk Loci.

scientific article published on 9 May 2019

IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis

scientific article published on 05 July 2018

Identification of Common and Rare Genetic Variation Associated With Plasma Protein Levels Using Whole-Exome Sequencing and Mass Spectrometry

scientific article published on 01 December 2018

Identification of a Coordinate Regulator of Interleukins 4, 13, and 5 by Cross-Species Sequence Comparisons

scientific article

Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer

scientific article

Implementing Genomic Medicine in the Clinic

Implementing genomic medicine in the clinic: the future is here

scientific article published on 10 January 2013

In heart failure reactivation of RNA-binding proteins is associated with the expression of 1,523 fetal-specific isoforms

scientific article published on 28 February 2022

Insights into the Mutational Burden of Human Induced Pluripotent Stem Cells from an Integrative Multi-Omics Approach

scientific article published on 01 July 2018

Isolation and characterization of a laminin-binding protein from rat and chick muscle ⬇️

scientific article published on August 1, 1988

Joint effects of cancer and variants in the factor 5 gene on the risk of venous thromboembolism

scientific article published on 16 June 2016

Joint effects of prothrombotic genotypes and body height on the risk of venous thromboembolism: the Tromsø study.

scientific article

Kataegis Expression Signature in Breast Cancer Is Associated with Late Onset, Better Prognosis, and Higher HER2 Levels.

scientific article published on 29 June 2016

Large-Scale Profiling Reveals the Influence of Genetic Variation on Gene Expression in Human Induced Pluripotent Stem Cells.

scientific article

Longitudinal assessment of tumor development using cancer avatars derived from genetically engineered pluripotent stem cells

scientific article published on 28 January 2020

MiningABs: mining associated biomarkers across multi-connected gene expression datasets

scientific article

Multi-species sequence comparison: the next frontier in genome annotation

scientific article

Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing.

scientific article published on 27 May 2013

Mutational Profiling Can Establish Clonal or Independent Origin in Synchronous Bilateral Breast and Other Tumors.

scientific article published on 10 November 2015

Mutations in topoisomerase IIβ result in a B cell immunodeficiency

scientific article published on 13 August 2019

New models of collaboration in genome-wide association studies: the Genetic Association Information Network

scientific article (publication date: September 2007)

PI3Kγ is a molecular switch that controls immune suppression

scientific article

PTEN regulates glioblastoma oncogenesis through chromatin-associated complexes of DAXX and histone H3.3.

scientific article

Pancreatic islet chromatin accessibility and conformation reveals distal enhancer networks of type 2 diabetes risk

scientific article published on 07 May 2019

Pgltools: a genomic arithmetic tool suite for manipulation of Hi-C peak and other chromatin interaction data.

scientific article

Photoreceptor localization of the KIF3A and KIF3B subunits of the heterotrimeric microtubule motor kinesin II in vertebrate retina

scientific article (publication date: November 1999)

Properties of structural variants and short tandem repeats associated with gene expression and complex traits

scientific article published on 10 June 2020

Publisher Correction: PTEN regulates glioblastoma oncogenesis through chromatin-associated complexes of DAXX and histone H3.3.

scientific article

Reversion to an embryonic alternative splicing program enhances leukemia stem cell self-renewal

scientific article

Subtle changes in chromatin loop contact propensity are associated with differential gene regulation and expression

article

Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease

scientific article published on 20 November 2019

Systematic transcriptome analysis reveals tumor-specific isoforms for ovarian cancer diagnosis and therapy

scientific article published on 26 May 2015

The Genomics Gold Rush

scientific article published in The Journal of the American Medical Association

The apolipoprotein(a) gene is regulated by sex hormones and acute-phase inducers in YAC transgenic mice.

scientific article published in April 1995

The resequencing imperative

article

Transcriptome Sequencing of Tumor Subpopulations Reveals a Spectrum of Therapeutic Options for Squamous Cell Lung Cancer ⬇️

scientific article published on March 20, 2013

Transcriptome sequencing reveals potential mechanism of cryptic 3' splice site selection in SF3B1-mutated cancers

scientific article published on 13 March 2015

VISTA: computational tools for comparative genomics

scientific article (publication date: July 2004)

Variation in conserved non-coding sequences on chromosome 5q and susceptibility to asthma and atopy.

scientific article published on 10 December 2005

Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree

scientific article

Whole genome sequencing of Ethiopian highlanders reveals conserved hypoxia tolerance genes

scientific article

Whole-genome patterns of common DNA variation in three human populations

scientific article

Whole-genome sequencing uncovers the genetic basis of chronic mountain sickness in Andean highlanders

scientific article

miR-150 influences B-cell receptor signaling in chronic lymphocytic leukemia by regulating expression of GAB1 and FOXP1

scientific article (publication date: 3 July 2014)

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