John Broxholme

发表

GREVE: Genomic Recurrent Event ViEwer to assist the identification of patterns across individual cancer samples

Christopher C. Holmes, Jean-Baptiste Cazier, John Broxholme, 2012, Bioinform..

GLIDERS - A web-based search engine for genome-wide linkage disequilibrium between HapMap SNPs

Lon R. Cardon, John Broxholme, Eleftheria Zeggini, 2009, BMC Bioinformatics.

Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex.

Martin S. Taylor, John Broxholme, Katharine Plant, 2011, Genome research.

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

John Broxholme, Jiannis Ragoussis, Mark W Hankins, 2013, European Journal of Human Genetics.

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

John Broxholme, Jiannis Ragoussis, Mark W Hankins, 2012, European Journal of Human Genetics.

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

John Broxholme, Elizabeth Sweeney, Angela F Brady, 2013, Nature Genetics.

SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data

Åsa Hedman, John Broxholme, Jiannis Ragoussis, 2005, Nucleic acids research.

The Use of Genome-Wide eQTL Associations in Lymphoblastoid Cell Lines to Identify Novel Genetic Pathways Involved in Complex Traits

Christian Gieger, Lon R. Cardon, Kourosh R. Ahmadi, 2011, PloS one.

Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

Peter Donnelly, Gil McVean, Paolo Piazza, 2014, Nature Communications.

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

Peter Donnelly, Gil McVean, Jean-Baptiste Cazier, 2014, Human molecular genetics.

A comparison of tagging methods and their tagging space.

John Broxholme, Xiayi Ke, Panos Deloukas, 2005, Human molecular genetics.

Positional cloning of a novel gene influencing asthma from Chromosome 2q14

Gonçalo Abecasis, John Broxholme, Chris P Ponting, 2003, Nature Genetics.