Publications - NGS Constitutional Disease Research

Rare Mendelian Disorders:

  1. Martignetti JA et al. Mutations in PDGFRB Cause Autosomal Dominant Infantile Myofibromatosis. Am J. Hum. Genet 2013
  2. Shearer AE. Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. PNAS 2011
  3. Nectoux J. Detection of TRIM32 deletions in LGMD patients analyzed by a combined CGH array and massively parallel sequencing. Eur J Hum Genet 2014
  4. Rousseau-Nepton I. A founder AGL mutation in glycogen storage disease type III in Inuit identified through whole exome sequencing CMAJ 2015
  5. Masumoto N. Coffin- Siris Syndrome is a SWI/SNF Complex Disorder. Clin. Genet 2013
  6. Tyynismaa H. Targeted Next-Generation Sequencing Reveals Further Genetic Heterogeneity in Axonal Charcot- Marie-Tooth Neuropathy and A Mutation in HSPB1. Eur. J. Hum. Genet. 2013
  7. Stone EM et al. Non-Exomic and Synonymous Variants in ABCA4 are an Important Cause of Stargardt Disease. Hum.Molec. Genet. 2013


Complex Disorders:

  1. Griesi-Oliveira K et al. Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons Mol Psych 2014
  2. Guipponi M et al. Exome Seq in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes. PLOS One 2014
  3. Poultney CS et al. Identification of small exonic CNV from WES data and application to autism spectrum disorder. Am J Med Genet 2013
  4. Perez-Serra A et al. novel mutation in lamin a/c causing familial dilated cardiomyopathy associated with sudden cardiac death. J Card Fail 2015


Mitochondrial Disorders:

  1. Gai X Mutations in FBXL4 encoding a mitochondrial protein cause early onset mitochondrial encephalomyopathy. Am J Hum Genet 2013
  2. Calvo SE Mol Dx of Infantile Mito Disease with Targeted NGS Sci Transl Med 2012


For Research Use Only. Not for use in diagnostic procedures.