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J. Broxholme · SciRah

Researcher profile · Semantic Scholar

J. Broxholme

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J. Broxholme — researcher profile on SciRah

h-index: 29
Works: 54
Citations: 4,738

Most-cited papers

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.
E. Blair, C. Redwood, H. Ashrafian, Marisa Oliveira +5 more
2001Human Molecular Genetics532 citations
Semantic Scholar
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Jenny C. Taylor, H. Martin, S. Lise, J. Broxholme +106 more
2015Nature Genetics389 citations Open access
Semantic Scholar
Positional cloning of a novel gene influencing asthma from Chromosome 2q14
Maxine Allen, A. Heinzmann, E. Noguchi, G. Abecasis +26 more
2003Nature Genetics350 citations
Semantic Scholar
Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma
You-Ming Zhang, N. Leaves, Gavin G. Anderson, C. Ponting +19 more
2003Nature Genetics327 citations Open access
Semantic Scholar
A blood atlas of COVID-19 defines hallmarks of disease severity and specificity
†. Consortium, D. Ahern, Zhi-Chao Ai, M. Ainsworth +203 more
2021medRxiv310 citations Open access
Semantic Scholar
A fine-scale chimpanzee genetic map from population sequencing
A. Auton, A. Fledel-Alon, S. Pfeifer, O. Venn +19 more
2012Science293 citations Open access
Semantic Scholar
Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots
M. Phillips, R. Lawrence, Ravi Sachidanandam, Andrew P. Morris +31 more
2003Nature Genetics291 citations
Semantic Scholar
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis
H. Martin, Grace E. Kim, A. Pagnamenta, Y. Murakami +28 more
2014Human Molecular Genetics247 citations Open access
Semantic Scholar
Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations.
A. Pellagatti, R. Armstrong, V. Steeples, Eshita Sharma +26 more
2018Blood221 citations Open access
Semantic Scholar
Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Vikram P. Sharma, A. Fenwick, Mia S. Brockop, S. McGowan +22 more
2013Nature Genetics203 citations Open access
Semantic Scholar
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease
M. Shanks, S. Downes, R. Copley, S. Lise +12 more
2012European Journal of Human Genetics144 citations Open access
Semantic Scholar
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects
J. Lamb, G. Barnby, E. Bonora, Nuala H. Sykes +8 more
2005Journal of Medical Genetics134 citations Open access
Semantic Scholar
Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
C. Williams, Yun Zhang, A. Timms, Gina Bonavita +10 more
2002American Journal of Human Genetics120 citations Open access
Semantic Scholar
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Wei Wei, A. Pagnamenta, Nicholas S. Gleadall, A. Sanchis-Juan +12 more
2020Nature Communications107 citations Open access
Semantic Scholar
SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data
Thomas S. Price, R. Regan, R. Mott, Å. Hedman +15 more
2005Nucleic Acids Research100 citations Open access
Semantic Scholar
Host Genetic Factors and Vaccine-Induced Immunity to Hepatitis B Virus Infection
B. Hennig, K. Fielding, J. Broxholme, M. Diatta +11 more
2008PLoS ONE93 citations Open access
Semantic Scholar
Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat.
Joanna H. Brown, M. Bihoreau, S. Hoffmann, B. Kränzlin +13 more
2005Journal of the American Society of Nephrology93 citations
Semantic Scholar
Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex.
C. Vandiedonck, Martin S. Taylor, H. Lockstone, K. Plant +5 more
2011Genome Research75 citations Open access
Semantic Scholar
A practical solution for preserving single cells for RNA sequencing
M. Attar, Eshita Sharma, Shu-Qiang Li, Claire Bryer +9 more
2017Scientific Reports73 citations Open access
Semantic Scholar
Coexpression Network Analysis in Abdominal and Gluteal Adipose Tissue Reveals Regulatory Genetic Loci for Metabolic Syndrome and Related Phenotypes
Josine L. Min, G. Nicholson, Ingileif Halgrimsdottir, K. Almstrup +18 more
2012PLoS Genetics66 citations Open access
Semantic Scholar
Estimating the number of coding mutations in genotypic and phenotypic driven N-ethyl-N-nitrosourea (ENU) screens: revisited
D. Keays, T. Clark, Thomas G. Campbell, J. Broxholme +1 more
2006Mammalian Genome56 citations
Semantic Scholar
Distinct regulation of hippocampal neuroplasticity and ciliary genes by corticosteroid receptors
K. Mifsud, C. L. Kennedy, S. Salatino, Eshita Sharma +10 more
2021Nature Communications53 citations Open access
Semantic Scholar
Early detection of doxorubicin-induced cardiotoxicity in rats by its cardiac metabolic signature assessed with hyperpolarized MRI
Kerstin N. Timm, C. Perera, V. Ball, J. Henry +12 more
2020Communications Biology48 citations Open access
Semantic Scholar
The Use of Genome-Wide eQTL Associations in Lymphoblastoid Cell Lines to Identify Novel Genetic Pathways Involved in Complex Traits
Josine L. Min, Jennifer M. Taylor, J. B. Richards, T. Watts +16 more
2011PLoS ONE42 citations Open access
Semantic Scholar
LD mapping of maternally and non-maternally derived alleles and atopy in FcεRI-β
J. Traherne, M. Hill, P. Hysi, M. D'Amato +4 more
200338 citations Open access
Semantic Scholar
A comparison of tagging methods and their tagging space.
X. Ke, M. Miretti, J. Broxholme, S. Hunt +4 more
2005Human Molecular Genetics36 citations Open access
Semantic Scholar
Phenotypic and transcriptomic characterization of canine myeloid-derived suppressor cells
M. Goulart, Sabina I. Hlavaty, Yu-Mei Chang, G. Polton +11 more
2019Scientific Reports35 citations Open access
Semantic Scholar
Positive association to IgE levels and a physical map of the 13q14 atopy locus
Gavin G. Anderson, N. Leaves, Sumit Bhattacharyya, You-Ming Zhang +7 more
2002European Journal of Human Genetics32 citations Open access
Semantic Scholar
GLIDERS - A web-based search engine for genome-wide linkage disequilibrium between HapMap SNPs
R. Lawrence, A. Day-Williams, R. Mott, J. Broxholme +2 more
2009BMC Bioinformatics29 citations Open access
Semantic Scholar
Characterization of a major modifier locus for polycystic kidney disease (Modpkdr1) in the Han:SPRD(cy/+) rat in a region conserved with a mouse modifier locus for Alport syndrome.
M. Bihoreau, Natalia Megel, Joanna H. Brown, B. Kränzlin +8 more
2002Human Molecular Genetics29 citations
Semantic Scholar
The nature and nurture of cell heterogeneity: accounting for macrophage gene-environment interactions with single-cell RNA-Seq
Q. Wills, E. Mellado-Gomez, Rory Nolan, Damien Warner +14 more
2017BMC Genomics25 citations Open access
Semantic Scholar
LD mapping of maternally and non-maternally derived alleles and atopy in FcepsilonRI-beta.
J. Traherne, M. Hill, P. Hysi, M. D'Amato +4 more
2003Human Molecular Genetics22 citations
Semantic Scholar
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease
M. Shanks, S. Downes, R. Copley, S. Lise +12 more
2013European Journal of Human Genetics21 citations Open access
Semantic Scholar
AICAR confers prophylactic cardioprotection in doxorubicin-induced heart failure in rats.
Anurag Choksey, Ryan D. Carter, Benjamin D. Thackray, V. Ball +9 more
2024Journal of Molecular and Cellular Cardiology14 citations Open access
Semantic Scholar
Mutations in CDC 45 , Encoding an Essential Component of the Pre-initiation Complex , Cause Meier-Gorlin Syndrome and Craniosynostosis
John Bell, David L. Bentley, G. McVean, P. Ratcliffe +37 more
201713 citations
Semantic Scholar
Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Vikram P. Sharma, A. Fenwick, Mia S. Brockop, S. McGowan +23 more
201312 citations Open access
Semantic Scholar
GREVE: Genomic Recurrent Event ViEwer to assist the identification of patterns across individual cancer samples
J. Cazier, Chris C. Holmes, J. Broxholme
2012Bioinform.12 citations Open access
Semantic Scholar
miR-3156-5p is downregulated in serum of MEN1 patients and regulates expression of MORF4L2
K. Kooblall, V. Stokes, O. Shariq, K. English +9 more
2022Endocrine-Related Cancer10 citations Open access
Semantic Scholar
Genomic regulation of Krüppel-like-factor family members by corticosteroid receptors in the rat brain
C. L. Kennedy, E. Price, K. Mifsud, S. Salatino +5 more
2023Neurobiology of Stress9 citations Open access
Semantic Scholar
Decreased ATM Function Causes Delayed DNA Repair and Apoptosis in Common Variable Immunodeficiency Disorders
Chantal E. Hargreaves, S. Salatino, S. Sasson, James E. G. Charlesworth +6 more
2021Journal of Clinical Immunology9 citations Open access
Semantic Scholar
Mendelian and polygenic inheritance of intelligence: A common set of causal genes? Using next-generation sequencing to examine the effects of 168 intellectual disability genes on normal-range intelligence
S. Franić, C. Dolan, J. Broxholme, Hao Hu +8 more
20159 citations
Semantic Scholar
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Wei Wei, A. Pagnamenta, Nicholas S. Gleadall, A. Sanchis-Juan +10 more
2020Nature Communications4 citations Open access
Semantic Scholar
AICAR prevents doxorubicin-induced heart failure in rats by ameliorating cardiac atrophy and improving fatty acid oxidation
Anurag Choksey, Benjamin D. Thackray, V. Ball, Lea Hong Tuan Ha +8 more
2022bioRxiv3 citations Open access
Semantic Scholar
Correction: Host Genetic Factors and Vaccine-Induced Immunity to Hepatitis B Virus Infection
B. Hennig, K. Fielding, J. Broxholme, M. Diatta +11 more
2011PLoS ONE3 citations Open access
Semantic Scholar
The use of genome-wide eQTL associations to identify novel genetic pathways involved in complex traits
Josine L. Min, Jennifer M. Taylor, J. B. Richards, T. Watts +8 more
20081 citations
Semantic Scholar
Positional cloning of susceptibility genes for atopic dermatitis in the epidermal differentiation complex
N. Morar, P. Edster, T. Street, S. Weidinger +13 more
20071 citations
Semantic Scholar
MAPPING THE NON-B27 MHC ASSOCIATIONS OF ANKYLOSING SPONDYLITIS (AS)
Sims A.-M., M. Bernardo, J. Broxholme, I. Herzberg +5 more
20041 citations
Semantic Scholar
A new method to assess the statistical significance of copy number changes identified in genomic DNA by array comparative genome hybridization
Thomas S. Price, R. Regan, R. Mott, Nicki Ventress +12 more
20031 citations
Semantic Scholar
Genomic analysis of sporadic neurological disease using family trios: learning to expect the unexpected
A. Pagnamenta, H. Martin, S. Lise, K. Hudspith +16 more
20120 citations
Semantic Scholar
Edinburgh Explorer Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex
C. Vandiedonck, Martin S. Taylor, H. Lockstone, K. Plant +5 more
20110 citations
Semantic Scholar

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