Journal of Medical Genetics

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  Publication Venue For

  • Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer..  58:305-313. 2021
  • POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families..  57:664-670. 2020
  • A genome-wide interaction analysis of tricyclic/tetracyclic antidepressants and RR and QT intervals: a pharmacogenomics study from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium..  54:313-323. 2017
  • The importance of dynamic re-analysis in diagnostic whole exome sequencing..  54:155-156. 2017
  • Meta-analysis of genome-wide association studies of HDL cholesterol response to statins..  53:835-845. 2016
  • PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS..  53:800-811. 2016
  • Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry..  53:495-502. 2016
  • Genome-wide association meta-analyses to identify common genetic variants associated with hallux valgus in Caucasian and African Americans..  52:762-769. 2015
  • Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing..  50:674-688. 2013
  • Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis..  50:246-254. 2013
  • Clinical application of exome sequencing in undiagnosed genetic conditions..  49:353-361. 2012
  • Further clinical and molecular delineation of the 15q24 microdeletion syndrome..  49:110-118. 2012
  • FOXN1 mutation abrogates prenatal T-cell development in humans..  48:413-416. 2011
  • Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia..  47:646-650. 2010
  • Challenges in the phenotypic characterisation of patients in genetic studies of coronary artery disease..  44:161-165. 2007
  • The cardiofaciocutaneous syndrome..  43:833-842. 2006
  • A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect..  43:817-821. 2006
  • SMAD4 mutations found in unselected HHT patients..  43:793-797. 2006
  • Potential for expanded power in linkage studies using the ALLEGRO and MERLIN software programs..  42:e68. 2005
  • Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10..  42:940-946. 2005
  • Interaction between the alpha-T catenin gene (VR22) and APOE in Alzheimer's disease..  42:787-792. 2005
  • Melanocortin-1 receptor gene variants affect pain and mu-opioid analgesia in mice and humans..  42:583-587. 2005
  • Divergent phenotypes in Gaucher disease implicate the role of modifiers..  42:e37. 2005
  • Mapping of psoriasis to 17q terminus..  42:152-158. 2005
  • Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?.  42:166-171. 2005
  • Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2..  41:529-534. 2004
  • Large scale association analysis for identification of genes underlying premature coronary heart disease: cumulative perspective from analysis of 111 candidate genes..  41:334-341. 2004
  • Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class..  40:e106. 2003
  • Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations..  40:585-590. 2003
  • Association of genetic variants in the HDL receptor, SR-B1, with abnormal lipids in women with coronary artery disease..  40:453-458. 2003
  • Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay..  40:e46. 2003
  • RNASEL mutations in hereditary prostate cancer..  40:e21. 2003
  • Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations..  38:761-766. 2001
  • Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. 2003