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Mount Sinai Genetic Testing Laboratory nearly doubles diseases covered by Ashkenazi Jewish Carrier Screening Panel
Zhu J, Huynh JL, Yoo S, Zhang B, Schadt E, Casaccia P, et al. (2014) Common dysregulation network in the human prefrontal cortex underlies two neurodegenerative diseases. Mol Syst Biol 10:743.
Brahmachary M, Guilmatre A, Quilez J, Hasson D, Borel C, Warburton P, Sharp AJ, et al. (2014) Digital genotyping of macrosatellites and multicopy genes reveals novel biological functions associated with copy number variation of large tandem repeats. PloS Genet 10 : e1004418
Houten S, Denis S, te Brinke H, Jongejan A, van Kampen AHC, et al. (2014) Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. Hum Mol Genet 23(11)
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