Clin Genet

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  Publication Venue For

  • Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord..  103:167-178. 2023
  • The genetic underpinnings of anthracycline-induced cardiomyopathy predisposition..  100:132-143. 2021
  • Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy..  98:331-340. 2020
  • The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease..  96:521-531. 2019
  • Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures..  92:221-223. 2017
  • Practical considerations in the clinical application of whole-exome sequencing..  89:173-181. 2016
  • Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy..  88:597-599. 2015
  • The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome..  88:386-390. 2015
  • Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT..  85:359-364. 2014
  • Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia..  85:166-171. 2014
  • Primary care physicians' knowledge of and experience with pharmacogenetic testing..  82:388-394. 2012
  • Survey of genetic counselors and clinical geneticists' use and attitudes toward pharmacogenetic testing..  82:115-120. 2012
  • Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family..  78:484-489. 2010
  • Skeletal dysplasias and the growth plate..  73:24-30. 2008