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Author Details

Alison J Coffey
1991
55
32
PMIDPaper TitleJournal TitlePublished Year
35181961A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationships.Human Mutation2022
35507016The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.Genet Med2022
30293986Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.Genet Med2019
25649381A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.Eur J Hum Genet2015
25633834Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.Journal of Molecular and Cellular Cardiology2015
25615886Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus.Nat Commun2015
23962720A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.Hum Mol Genet2014
23518715A genetic study of Wilson's disease in the United Kingdom.Brain2013
24159175Genome-wide methylation analyses of primary human leukocyte subsets identifies functionally important cell-type-specific hypomethylated regions.Blood2013
23644778Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.Basic Res Cardiol2013
22057783Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data.Hum Genet2012
23209683A comparison of the whole genome approach of MeDIP-seq to the targeted approach of the Infinium HumanMethylation450 BeadChip(®) for methylome profiling.PLoS One2012
22135276Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.J Med Genet2012
22069447An evaluation of different target enrichment methods in pooled sequencing designs for complex disease association studies.PLoS One2011
22654791Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient.Frontiers in Endocrinology2011
21364695The GENCODE exome: sequencing the complete human exome.Eur J Hum Genet2011
21559497Clustered coding variants in the glutamate receptor complexes of individuals with schizophrenia and bipolar disorder.PLoS One2011
21658913Q8IYL2 is a candidate gene for the familial epilepsy syndrome of Partial Epilepsy with Pericentral Spikes (PEPS).Epilepsy Res2011
22133426Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing.Investig Genet2011
20360734Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.Nature2010
20111037Target-enrichment strategies for next-generation sequencing.Nat Methods2010
20011118Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.PLoS Genet2009
19429868A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways.Blood2009
19465909Genome-wide and fine-resolution association analysis of malaria in West Africa.Nat Genet2009
19752777Genetic and environmental factors determining clinical outcomes and cost of warfarin therapy: a prospective study.Pharmacogenet Genomics2009
18086001The association between polymorphisms in RLIP76 and drug response in epilepsy.Pharmacogenomics2007
17460550Common ABCB1 polymorphisms are not associated with multidrug resistance in epilepsy using a gene-wide tagging approach.Pharmacogenet Genomics2007
17497718Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?American Journal of Medical Genetics, Part A2007
16708052Exon sequencing and high resolution haplotype analysis of ABC transporter genes implicated in drug resistance.Pharmacogenet Genomics2006
16857572Clinical factors and ABCB1 polymorphisms in prediction of antiepileptic drug response: a prospective cohort study.Lancet Neurol2006
15756638Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome.American Journal of Human Genetics2005
15772651The DNA sequence of the human X chromosome.Nature2005
12958526DNA rescue by the vectorette method.Methods Mol Biol2003
11827456Physical and transcript map of the hereditary prostate cancer region at xq27.Genomics2002
11237015The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X.Nature2001
10786627Characterisation of a novel murine intestinal serine protease, DISP.Biochim Biophys Acta2000
10818703Improved method for detecting differentially expressed genes using cDNA indexing.Biotechniques2000
10607564Novel mode of ligand binding by the SH2 domain of the human XLP disease gene product SAP/SH2D1A.Curr Biol1999
10447510High-resolution landmark framework for the sequence-ready mapping of Xq23-q26.1.Genome Res1999
9771704Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.Nat Genet1998
9801876A new candidate region for the positional cloning of the XLP gene.Eur J Hum Genet1998
8744027An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS.Eur J Hum Genet1996
8908513An integrated YAC map of the human X chromosome.Genome Res1996
8956268DNA rescue by the vectorette method.Methods Mol Biol1996
8808277Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3.Genomics1996
8597809Alu-PCR fingerprinting of YACs.Methods in Molecular Biology1996
7566101A high-density YAC contig map of human chromosome 22.Nature1995
8188239A 6.5-Mb yeast artificial chromosome contig incorporating 33 DNA markers on the human X chromosome at Xq22.Genomics1994
8449494Vertical integration of cosmid and YAC resources for interval mapping on the X-chromosome.Genomics1993
8314593Exon structure of the human dystrophin gene.Genomics1993
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