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Human Mutation|February 1, 2012
Analysis of DNA sequence variants detected by high-throughput sequencingDavid R Adams, Murat Sincan, Karin Fuentes Fajardo, et al.
European Journal of Human Genetics : EJHG|December 8, 2011
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegenerationTyler Mark Pierson, Dimitre R Simeonov, Murat Sincan, et al.
Neurology|June 8, 2012
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosisTyler Mark Pierson, David A Adams, Thomas Markello, et al.
Annals of Clinical and Translational Neurology|May 20, 2014
<i>GRIN2A</i> mutation and early-onset epileptic encephalopathy: personalized therapy with memantineTyler Mark Pierson, Hongjie Yuan, Eric D Marsh, et al.
Neuromuscular Disorders : NMD|March 5, 2013
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)Tyler Mark Pierson, Thomas Markello, John Accardi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseasesWilliam A Gahl, Thomas C Markello, Camilo Toro, et al.
Plos Genetics|October 25, 2011
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteasesTyler Mark Pierson, David Adams, Florian Bonn, et al.
Molecular Genetics and Metabolism|May 28, 2014
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivityDavid R Adams, Hongjie Yuan, Todd Holyoak, et al.
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