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Clinical laboratory studies in Barth Syndrome.
Vernon HJ, Sandlers Y, McClellan R, Kelley RI. Vernon HJ, et al. Mol Genet Metab. 2014 Jun;112(2):143-7. doi: 10.1016/j.ymgme.2014.03.007. Epub 2014 Mar 30. Mol Genet Metab. 2014. PMID: 24751896
Clinical whole exome sequencing in child neurology practice.
Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A. Srivastava S, et al. Ann Neurol. 2014 Oct;76(4):473-83. doi: 10.1002/ana.24251. Epub 2014 Aug 30. Ann Neurol. 2014. PMID: 25131622
New targets for monitoring and therapy in Barth syndrome.
Thompson WR, DeCroes B, McClellan R, Rubens J, Vaz FM, Kristaponis K, Avramopoulos D, Vernon HJ. Thompson WR, et al. Among authors: vernon hj. Genet Med. 2016 Oct;18(10):1001-10. doi: 10.1038/gim.2015.204. Epub 2016 Feb 4. Genet Med. 2016. PMID: 26845103 Free article.
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.
Ye Y, Cho MT, Retterer K, Alexander N, Ben-Omran T, Al-Mureikhi M, Cristian I, Wheeler PG, Crain C, Zand D, Weinstein V, Vernon HJ, McClellan R, Krishnamurthy V, Vitazka P, Millan F, Chung WK. Ye Y, et al. Among authors: vernon hj. Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000455. doi: 10.1101/mcs.a000455. Cold Spring Harb Mol Case Stud. 2015. PMID: 27148570 Free PMC article.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK. Zarate YA, et al. Among authors: vernon hj. Am J Med Genet A. 2018 Apr;176(4):925-935. doi: 10.1002/ajmg.a.38630. Epub 2018 Feb 13. Am J Med Genet A. 2018. PMID: 29436146
Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability.
Ferreira CR, Goorden SMI, Soldatos A, Byers HM, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Groden C, van Karnebeek CD, Gahl WA, Vaz FM, Jiang X, Vernon HJ. Ferreira CR, et al. Among authors: vernon hj. Mol Genet Metab. 2018 Jul;124(3):204-209. doi: 10.1016/j.ymgme.2018.05.001. Epub 2018 May 7. Mol Genet Metab. 2018. PMID: 29789193 Free PMC article.
81 results