Clinical Genetics

Journal

Publication Venue For

  • Systematic reanalysis of genomic data improves quality of variant interpretation.  94:174-178. 2018
  • Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.  93:187-190. 2018
  • Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager.  92:540-543. 2017
  • Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.  91:507-519. 2017
  • Is there really an increased risk of early colorectal cancer in women with BRCA1 pathogenic mutations?.  89:399. 2016
  • Sixteenth-century German woodcut of a male infant with possible disorganization.  89:269-271. 2016
  • Gastrointestinal involvement in Fabry disease: So important, yet often neglected.  89:5-9. 2016
  • Improving the uptake of predictive testing and colorectal screening in Lynch syndrome: A regional primary care survey.  87:517-524. 2015
  • Spinal neurofibromatosis and phenotypic heterogeneity in NF1.  87:399-400. 2015
  • A mutation creating an out-of-frame alternative translation initiation site in the GRHPR 5′UTR causing primary hyperoxaluria type II.  88:494-498. 2015
  • Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation.  83:191-194. 2013
  • Genotype-phenotype correlation in colorectal polyposis.  81:521-531. 2012
  • Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: A causal relationship?.  81:595-597. 2012
  • Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: A report of 121 families with proven mutations.  75:141-149. 2009
  • Colorectal cancer in HNPCC: Cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations.  74:233-242. 2008
  • Mapping of a new autosomal recessive non-syndromic hearing impairment locus (DFNB45) to chromosome 1q43-q44 [4].  73:395-398. 2008
  • DMPK-associated myotonic dystrophy and CTG repeats in Alabama African Americans..  72:448-453. 2007
  • A genome-wide linkage scan for iron phenotype quantitative trait loci: The HEIRS family study.  71:518-529. 2007
  • Inherited association of breast and colorectal cancer: Limited role of CHEK2 compared with high-penetrance genes.  70:388-395. 2006
  • Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in Native Americans and whites in the Hemochromatosis and Iron Overload Screening Study.  69:48-57. 2006
  • The fronto-ocular syndrome: Second mother-daughter case [1].  65:501-502. 2004
  • Terminal deletion of the long arm of chromosome 4 in a mother and two sons.  50:538-540. 1996
  • De novo interstitial deletion of the long arm of chromosome 3:46, XX, del(3) (q25.1q26.1).  44:335-337. 1993
  • CSF and urine biogenic amine metabolites in Rett syndrome.  37:173-178. 1990
  • Use of Y chromosome specific probes to detect low level sex chromosome mosaicism.  29:445-448. 1986
  • Population genetic analyses of insulin dependent diabetes mellitus using HLA allele frequencies.  23:405-414. 1983
  • Optimum pH for nuclear sex identification using quinacrine.  8:145-148. 1975
  • International Standard Serial Number (issn)

  • 0009-9163
  • Electronic International Standard Serial Number (eissn)

  • 1399-0004