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List of works by John McPherson

A cancer cell-line titration series for evaluating somatic classification

scientific article published on 26 December 2015

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

scientific article

A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation

scientific article published in October 2003

A defining decade in DNA sequencing

scientific article published in October 2014

A high-resolution map of human chromosome 12

scientific article (publication date: 15 February 2001)

A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.

scientific article published in May 1994

A physical map of the chicken genome

scientific article

A physical map of the human Y chromosome

scientific article published in Nature

A physical map of the mouse genome

scientific article

A renewed model of pancreatic cancer evolution based on genomic rearrangement patterns

scientific article

A two-dimensional pooling strategy for rare variant detection on next-generation sequencing platforms

scientific article

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

scientific article published on 28 March 2019

Analysis of glycated amino acids by high-performance liquid chromatography of phenylthiocarbamyl derivatives

scientific article published on August 1987

Antioxidant supplementation reduces genomic aberrations in human induced pluripotent stem cells.

scientific article published on 02 January 2014

Association of Distinct Mutational Signatures With Correlates of Increased Immune Activity in Pancreatic Ductal Adenocarcinoma

scientific article

Cancer genomics: technology, discovery, and translation

scientific article published on 23 January 2012

Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer

scientific article

Characterizing the cancer genome in lung adenocarcinoma

scientific article

Clinical genomics information management software linking cancer genome sequence and clinical decisions

scientific article published in September 2013

Coming of age: ten years of next-generation sequencing technologies

scientific article

Comprehensive DNA methylation profiling in a human cancer genome identifies novel epigenetic targets.

scientific article

Demographic histories and patterns of linkage disequilibrium in Chinese and Indian rhesus macaques

scientific article

Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at D5S681

scientific article published on 01 October 1993

Distinct routes of lineage development reshape the human blood hierarchy across ontogeny

scientific article

Elevated coding mutation rate during the reprogramming of human somatic cells into induced pluripotent stem cells

scientific article published in March 2012

Evidence for glycation of horse liver alcohol dehydrogenase in vivo

article

Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispanic children

scientific article published on 4 November 2009

Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer

scientific article published on 5 April 2013

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy

scientific article

Feasibility of real time next generation sequencing of cancer genes linked to drug response: results from a clinical trial

scientific article

Fine mapping of chromosome 5p15.33 based on a targeted deep sequencing and high density genotyping identifies novel lung cancer susceptibility loci

scientific article

Fosmid-based physical mapping of the Histoplasma capsulatum genome

scientific article published in August 2004

GLI2 inhibition abrogates human leukemia stem cell dormancy

scientific article

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

scientific article

Genome-wide germline correlates of the epigenetic landscape of prostate cancer

scientific article published on 07 October 2019

Genomic Support for a Moa-Tinamou Clade and Adaptive Morphological Convergence in Flightless Ratites

scientific article (publication date: 13 May 2014)

Genomic hallmarks of localized, non-indolent prostate cancer.

scientific article published on 9 January 2017

Genomic organization, nucleotide sequence, and cellular distribution of a Shaw-related potassium channel gene, Kv3.3, and mapping of Kv3.3 and Kv3.4 to human chromosomes 19 and 1 ⬇️

scientific article published on February 1, 1992

Genomic testing in cancer: patient knowledge, attitudes, and expectations

scientific article published on 24 June 2014

Germline BRCA2 mutations drive prostate cancers with distinct evolutionary trajectories.

scientific article published on 09 January 2017

High resolution physical map of the region surrounding the spinal muscular atrophy gene

scientific article

Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands.

scientific article

Human aldehyde dehydrogenase: chromosomal assignment of the gene for the isozyme that metabolizes gamma-aminobutyraldehyde

scientific article

Human dopa decarboxylase: Localization to human chromosome 7p11 and characterization of hepatic cDNAs ⬇️

scientific article published on June 1, 1992

ISOWN: accurate somatic mutation identification in the absence of normal tissue controls

scientific article

Identification of genes expressed by immune cells of the colon that are regulated by colorectal cancer-associated variants

scientific article

Identification of novel high-frequency DNA methylation changes in breast cancer

scientific article

Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia

scientific article

Identifying Actionable Targets in Cancer Patients

In silico genetics: identification of a functional element regulating H2-Ealpha gene expression

scientific article

Integrated and sequence-ordered BAC- and YAC-based physical maps for the rat genome

scientific article published in April 2004

Interrogation of Functional Cell-Surface Markers Identifies CD151 Dependency in High-Grade Serous Ovarian Cancer

scientific article published on March 2017

Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival

scientific article published on 20 July 2020

Levodopa-responsive aromatic L-amino acid decarboxylase deficiency

scientific article published in March 2004

Lineage-specific expansions of retroviral insertions within the genomes of African great apes but not humans and orangutans

scientific article

Linkage mapping detects two secondary microdeletions in cell hybrid HHW1064, used to isolate DNA probes from within 5q11.2-->q13.3.

scientific article

Localization of the D5 dopamine receptor gene to human chromosome 4p15.1-p15.3, centromeric to the Huntington's disease locus

scientific article

Mapping of human chromosome 5 microsatellite DNA polymorphisms

article

Massively parallel bisulphite pyrosequencing reveals the molecular complexity of breast cancer-associated cytosine-methylation patterns obtained from tissue and serum DNA.

scientific article

Microscopy with ultraviolet surface excitation for rapid slide-free histology

scientific article published on 04 December 2017

Mitochondrial mutations drive prostate cancer aggression

scientific article published on 22 September 2017

Molecular cloning and mapping of human semaphorin F from the Cri-du-chat candidate interval

scientific article

Molecular cloning of the microfibrillar protein MFAP3 and assignment of the gene to human chromosome 5q32-q33.2.

scientific article published on March 1995

Molecular heterogeneity of non-small cell lung carcinoma patient-derived xenografts closely reflect their primary tumors

scientific article published on 17 October 2016

Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions

scientific article published in February 1999

Next-generation gap.

scientific article

Next-generation sequencing identifies rare variants associated with Noonan syndrome

scientific article

Non-enzymic glycation of proteins: analysis of N-(1-deoxyhexitol-1-yl)amino acids by high-performance liquid chromatography

scientific article published on 01 October 1986

Optimization of miRNA-seq data preprocessing

scientific article

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

scientific article

Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT).

scientific article published on June 1999

Punctuated duplication seeding events during the evolution of human chromosome 2p11.

scientific article

Recurrent noncoding regulatory mutations in pancreatic ductal adenocarcinoma

scientific article published on 8 May 2017

Related subunits of NF-kappa B map to two distinct loci associated with translocations in leukemia, NFKB1 and NFKB2.

scientific article

Robust global microRNA expression profiling using next-generation sequencing technologies

scientific article published on 20 January 2014

Role of fructose in glycation and cross-linking of proteins

scientific article

SeqControl: process control for DNA sequencing

scientific article published on 31 August 2014

ShatterProof: operational detection and quantification of chromothripsis

scientific article

Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency

scientific article published on July 2009

Software for automated analysis of DNA fingerprinting gels.

scientific article

Somatic cell mapping of the human cyclophilin B gene (PPIB) to chromosome 15.

scientific article

Spatial genomic heterogeneity within localized, multifocal prostate cancer

scientific article published on 25 May 2015

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

scientific article

The DNA sequence and analysis of human chromosome 14

scientific article (publication date: 6 February 2003)

The GAAS metagenomic tool and its estimations of viral and microbial average genome size in four major biomes

scientific article

The LN54 radiation hybrid map of zebrafish expressed sequences

scientific article

The completion of the Mammalian Gene Collection (MGC).

scientific article published on 18 September 2009

The generation and regional localization of 303 new chromosome 5 sequence-tagged sites

scientific article published on February 1996

The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes

scientific article by Lucinda Fulton and Elaine Mardis

The syntenic relationship of the zebrafish and human genomes.

scientific article published on September 2000

Tracing the origins of relapse in acute myeloid leukaemia to stem cells.

scientific article published on 28 June 2017

Truncating Erythropoietin Receptor Rearrangements in Acute Lymphoblastic Leukemia

scientific article published on February 2016

Unraveling the genetics of cancer: genome sequencing and beyond

scientific article

Use of Sequenom sample ID Plus® SNP genotyping in identification of FFPE tumor samples

scientific article

Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications

scientific article published on 30 May 2003

Variable clonal repopulation dynamics influence chemotherapy response in colorectal cancer

scientific article

WaveCNV: allele-specific copy number alterations in primary tumors and xenograft models from next-generation sequencing

scientific article

What is finished, and why does it matter

scientific article

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