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Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.
Ferreira CR, Whitehead MT, Leon E. Ferreira CR, et al. Among authors: whitehead mt. Am J Med Genet A. 2017 Jun;173(6):1502-1513. doi: 10.1002/ajmg.a.38189. Epub 2017 Apr 12. Am J Med Genet A. 2017. PMID: 28402605 Free PMC article.
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
Simons C, Griffin LB, Helman G, Golas G, Pizzino A, Bloom M, Murphy JL, Crawford J, Evans SH, Topper S, Whitehead MT, Schreiber JM, Chapman KA, Tifft C, Lu KB, Gamper H, Shigematsu M, Taft RJ, Antonellis A, Hou YM, Vanderver A. Simons C, et al. Among authors: whitehead mt. Am J Hum Genet. 2015 Apr 2;96(4):675-81. doi: 10.1016/j.ajhg.2015.02.012. Epub 2015 Mar 26. Am J Hum Genet. 2015. PMID: 25817015 Free PMC article.
Structural brain defects.
Whitehead MT, Fricke ST, Gropman AL. Whitehead MT, et al. Clin Perinatol. 2015 Jun;42(2):337-61, ix. doi: 10.1016/j.clp.2015.02.007. Epub 2015 Apr 4. Clin Perinatol. 2015. PMID: 26042908 Review.
Alexander Disease.
Tavasoli A, Armangue T, Ho CY, Whitehead M, Bornhorst M, Rhee J, Hwang EI, Wells EM, Packer R, van der Knaap MS, Bugiani M, Vanderver A. Tavasoli A, et al. J Child Neurol. 2017 Feb;32(2):184-187. doi: 10.1177/0883073816673263. Epub 2016 Oct 10. J Child Neurol. 2017. PMID: 28112050
Fetal intracranial hemorrhage: role of fetal MRI.
Sanapo L, Whitehead MT, Bulas DI, Ahmadzia HK, Pesacreta L, Chang T, du Plessis A. Sanapo L, et al. Among authors: whitehead mt. Prenat Diagn. 2017 Aug;37(8):827-836. doi: 10.1002/pd.5096. Epub 2017 Jul 19. Prenat Diagn. 2017. PMID: 28626857
148 results