Will never be the same twice




Shashi V, McConkie-Rosell A, Schoch K, Katsuri V, Rehder C, Jiang YH, Goldstein DB, McDonald MT (2015). Practical considerations in the clinical application of whole-exome sequencing. Clinical Genetics. Advance online publication. doi: 10.1111/cge.12569 [Abstract]


Zhu X, Petrovski S, Xie P, Ruzzo E, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS, Hitomi Y, Schoch K, Spillmann RC, Heimer G, Marek-Yagel D, Tzadok M, Han Y, Worley G, Goldstein J, Jiang YH, Lancet D, Pras E, Shashi V, McHale D, Need AC, Goldstein DB (2015). Whole exome sequencing in undiagnosed genetic diseases: Interpreting 119 trios. Genetics in Medicine. Advance online publication. doi:10.1038/gim.2014.191 [Abstract]


Williams C, Jiang YH, Shashi V, Crimian R, Schoch K, Harper A, McHale D, Goldstein D, Petrovski S (2015). Additional evidence that the PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy. Clinical Genetics. Advance online publication. doi: 10.1111/cge.12581 [Abstract]


Chong JX, McMillan MJ, Shively KM, Beck AE, Marvin CT, Amenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Folds N, Uzielli MLG, Haldeman-Englert C, Hennekam RCM, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJM, Wassink-Ruiter JSK, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Carey AC (2015). De novo mutations in NACLN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. American Journal of Human Genetics, 96(3), 462-473. [Abstract]


Shashi V, Xie P, Schoch K, Goldstein DB, Howard TD, Berry MN, Schwartz CE, Cronin K, Sliwa S, Allen A, Need AC (2014). The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome. Clinical Genetics. Advance online publication. doi: 10.1111/cge.12511 [Abstract]


Shashi V, McConkie-Rosell A, Rosell B, Schoch K, Vellore K, McDonald M, Jiang YH, Xie PX, Need A, Goldstein DB (2014). The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genetics in Medicine, 16(2), 176-182. [Abstract]


Enns GM, Shashi V, Bainbridge M, Gabmello MJ, Zahir F, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Clark MJ, Haraksingh R, Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB (2014). Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genetics in Medicine, 16(10), 751-758. [Abstract]


Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, Meisler MH, Goldstein DB (2012). Clinical applications of exome sequencing in undiagnosed genetic conditions. Journal of Medical Genetics, 49(6), 353-361. [Abstract]


Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu T, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussman J, Shashi V, Johnson K, Rehder C, Bailif BC, Shaffer LG, Eichler E (2011). A copy number variation morbidity map of developmental delay. Nature Genetics, 43(9), 838-846. (Corrigendum published 2014, Nature Genetics, 46, p. 1040) [Abstract]




Physicians within the network collect and share high-quality clinical and laboratory data, including genomic information, clinical observations and documentation of environmental exposures. 

Box 103857, Duke University Medical Center, Durham, NC 27710 | Tel: 919 668 1340  

Duke University Medical Center