jrnl5917

Publication Venue For

  • Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease.  57:38-47. 2020
  • Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: A consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup 2020
  • Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region.  54:705-709. 2017
  • De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.  54:93-99. 2017
  • Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: Data from the Fabry Registry.  53:495-502. 2016
  • Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.  53:123-126. 2015
  • Antiproteinuric therapy and Fabry nephropathy: Factors associated with preserved kidney function during agalsidase-beta therapy.  52:860-866. 2015
  • Lynch syndrome caused by MLH1 mutations is associated with an increased risk of breast cancer: A cohort study.  52:553-556. 2015
  • Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with fabry disease.  52:353-358. 2015
  • Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in rett syndrome.  51:152-158. 2014
  • Tumour MLH1 promoter region methylation testing is an effective prescreen for lynch syndrome (HNPCC).  51:789-796. 2014
  • Rare TP53 genetic variant associated with glioma risk and outcome.  49:420-421. 2012
  • Updating the profile of C-terminal MECP2 deletions in Rett syndrome.  47:242-248. 2010
  • Factors associated with HD CAG repeat instability in Huntington disease.  44:695-701. 2007
  • Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1..  44. 2007
  • Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.  43:28-38. 2006
  • Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1..  42. 2005
  • Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.  42:336-349. 2005
  • Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome..  42. 2005
  • 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
  • Association of genetic variants in the HDL receptor, SR-B1, with abnormal lipids in women with coronary artery disease.  40:453-458. 2003
  • Independent NF1 mutations in two large families with spinal neurofibromatosis [1].  40:122-126. 2003
  • Evolution and expression of FOXL2 [1].  39:916-921. 2002
  • FOXL2 mutation screening in a large panel of POF patients and XX males..  39. 2002
  • A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation [4].  39:128-132. 2002
  • Growth in North American white children with neurofibromatosis 1 (NF1).  37:933-938. 2000
  • Identification of a recombination event narrowing the Lafora disease gene region.  34:590-591. 1997
  • Chromosome 1p terminal deletion: Report of new findings and confirmation of two characteristic phenotypes.  32:619-622. 1995
  • Gametic but not somatic instability of CAG repeat length in Huntington's disease.  30:982-986. 1993
  • Considerations in using linkage analysis as a presymptomatic test for Huntington's disease.  25:577-588. 1988
  • A de novo 3p;8p unbalanced translocation resulting in partial dup(3p) and partial del(8p).  24:174-177. 1987
  • Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation.  23:185-187. 1986
  • Paternal Robertsonian translocation t(13q;14q) and maternal reciprocal translocation t(7p;13q) in a couple with repeated fetal loss.  21:463-464. 1984
  • An unbalanced (6q;13q) translocation in a male with clinical features of Ehlers-Danlos type II syndrome.  21:226-228. 1984
  • Huntington's disease in monozygotic twins reared apart.  20:408-411. 1983
  • A 21/21 tandem translocation with satellites on both long and short arms.  11:297-299. 1974