Journal of Medical Genetics
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Publication Venue For
- POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families.. 57:664-670. 2020
- Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer. 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
- 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
- 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