A genome sequencing program for novel undiagnosed diseases.

Molecular Autopsy for Sudden Unexpected Death. JAMA (2016) 1.95

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. Genet Med (2016) 0.75

Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med (2013) 15.85

Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med (2011) 9.03

CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res (2011) 6.97

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale. Nat Genet (2011) 6.67

Molecular findings among patients referred for clinical whole-exome sequencing. JAMA (2014) 6.46

Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet (2013) 3.42

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet Med (2011) 3.14

Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research. Am J Med Genet A (2011) 2.93

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Hum Mutat (2010) 2.67

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet Med (2014) 2.41

A timely arrival for genomic medicine. Genet Med (2011) 2.38

Clinical whole exome sequencing in child neurology practice. Ann Neurol (2014) 2.32

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95

Dominant missense mutations in ABCC9 cause Cantú syndrome. Nat Genet (2012) 1.50

Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol (2014) 1.47

Genomics in clinical practice: lessons from the front lines. Sci Transl Med (2013) 1.38

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet (2014) 1.36

De novo KCNB1 mutations in epileptic encephalopathy. Ann Neurol (2014) 1.23

Mice lacking adenylyl cyclase-5 cope badly with repeated restraint stress. J Neurosci Res (2009) 0.97

ASXL1 and DNMT3A mutation in a cytogenetically normal B3 thymoma. Oncogenesis (2014) 0.84

SG-ADVISER CNV: copy-number variant annotation and interpretation. Genet Med (2014) 0.86

Self-Monitoring Utilization Patterns Among Individuals in an Incentivized Program for Healthy Behaviors. J Med Internet Res (2016) 0.80

Symptom-driven idiopathic disease gene identification. Genet Med (2015) 0.75

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder. Genet Med (2017) 0.75

A Whole Blood Molecular Signature for Acute Myocardial Infarction. Sci Rep (2017) 0.75