Journal of Medical Genetics

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  Publication Venue For

  • A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis..  54:490-501. 2017
  • The importance of dynamic re-analysis in diagnostic whole exome sequencing..  54:155-156. 2017
  • 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
  • A human laterality disorder caused by a homozygous deleterious mutation in MMP21..  52:840-847. 2015
  • Genome-wide association meta-analyses to identify common genetic variants associated with hallux valgus in Caucasian and African Americans..  52:762-769. 2015
  • The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes..  52:147-156. 2015
  • 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
  • OTX2 mutations contribute to the otocephaly-dysgnathia complex..  49:373-379. 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
  • Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy..  48:105-116. 2011
  • Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia..  47:646-650. 2010
  • Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping..  47:262-267. 2010
  • Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)..  46:663-670. 2009
  • 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
  • AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome..  43:334-339. 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
  • 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
  • Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families..  39:611-614. 2002
  • 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