Affiliation: Emory University
Chakravorty S, Hegde M. Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies. Annu Rev Genomics Hum Genet. 2017;18:229-256 pubmed publisher
..We also discuss the utility of this integrated approach for diagnostic clinics and medical databases and its role in the future of personalized medicine. ..
Ankala A, Hegde M. Gamut of genetic testing for neonatal care. Clin Perinatol. 2015;42:217-26, vii pubmed publisher
..From variant-specific testing to whole-exome and genome sequencing, the article covers the whole gamut of genetic testing, with some thoughts on the changing paradigm of medical genetics. ..
Lapin V, Mighion L, da Silva C, Cuperus Y, Bean L, Hegde M. Regulating whole exome sequencing as a diagnostic test. Hum Genet. 2016;135:655-73 pubmed publisher
Garber K, Vincent L, Alexander J, Bean L, Bale S, Hegde M. Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine. Am J Hum Genet. 2016;99:1140-1149 pubmed publisher
Askree S, Chin E, Bean L, Coffee B, Tanner A, Hegde M. Detection limit of intragenic deletions with targeted array comparative genomic hybridization. BMC Genet. 2013;14:116 pubmed publisher
..Our knowledge of the mutation spectra of several genes can be expected to change as previously unrecognized intragenic deletions are uncovered. ..
Hegde M, Bale S, Bayrak Toydemir P, Gibson J, Jeng L, Joseph L, et al
. Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology. J Mol Diagn. 2015;17:107-17 pubmed publisher