Last Updated: 09/26/2026
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Found 9 publications
Genetic Misdiagnoses and the Potential for Health Disparities.
Journal: The New England journal of medicine
Published: August 18, 2016
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Journal: Journal of human genetics
Published: April 16, 2016
Gene expression analysis in Fmr1KO mice identifies an immunological signature in brain tissue and mGluR5-related signaling in primary neuronal cultures.
Journal: Molecular autism
Published: August 20, 2015
An assessment of clinician and researcher needs for support in the era of genomic medicine.
Journal: Personalized medicine
Published: August 01, 2014
Misinterpretation of TPMT by a DTC genetic testing company.
Journal: Clinical pharmacology and therapeutics
Published: December 18, 2013
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Journal: Genome biology
Published: September 03, 2013
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.
Journal: European journal of medical genetics
Published: August 18, 2013
iPSC-derived neurons as a higher-throughput readout for autism: promises and pitfalls.
Journal: Trends in molecular medicine
Published: June 13, 2013
Comparative RNA editing in autistic and neurotypical cerebella.
Journal: Molecular psychiatry
Published: February 16, 2012
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Last Updated: 09/26/2026