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Mitochondrial disorders and the eye.
Schrier SA, Falk MJ. Schrier SA, et al. Curr Opin Ophthalmol. 2011 Sep;22(5):325-31. doi: 10.1097/ICU.0b013e328349419d. Curr Opin Ophthalmol. 2011. PMID: 21730846 Free PMC article. Review.
Improving surveillance for hyperammonemia in the newborn.
Vergano SA, Crossette JM, Cusick FC, Desai BR, Deardorff MA, Sondheimer N. Vergano SA, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):102-5. doi: 10.1016/j.ymgme.2013.05.005. Epub 2013 May 18. Mol Genet Metab. 2013. PMID: 23746553 Free PMC article.
Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy.
Kalish JM, Conlin LK, Mostoufi-Moab S, Wilkens AB, Mulchandani S, Zelley K, Kowalski M, Bhatti TR, Russo P, Mattei P, Mackenzie WG, LiVolsi V, Nichols KE, Biegel JA, Spinner NB, Deardorff MA. Kalish JM, et al. Am J Med Genet A. 2013 May;161A(5):993-1001. doi: 10.1002/ajmg.a.35831. Epub 2013 Mar 26. Am J Med Genet A. 2013. PMID: 23532898 Free PMC article.
PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.
Tsai EA, Berman MA, Conlin LK, Rehm HL, Francey LJ, Deardorff MA, Holst J, Kaur M, Gallant E, Clark DM, Glessner JT, Jensen ST, Grant SF, Gruber PJ, Hakonarson H, Spinner NB, Krantz ID. Tsai EA, et al. Am J Med Genet A. 2013 Sep;161A(9):2134-47. doi: 10.1002/ajmg.a.36038. Epub 2013 Jul 29. Am J Med Genet A. 2013. PMID: 23897863 Free PMC article.