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Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.
Huppke P, Brendel C, Korenke GC, Marquardt I, Donsante A, Yi L, Hicks JD, Steinbach PJ, Wilson C, Elpeleg O, Møller LB, Christodoulou J, Kaler SG, Gärtner J. Huppke P, et al. Among authors: steinbach pj. Hum Mutat. 2012 Aug;33(8):1207-15. doi: 10.1002/humu.22099. Epub 2012 May 16. Hum Mutat. 2012. PMID: 22508683 Free PMC article.
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.
Sharma P, Reichert M, Lu Y, Markello TC, Adams DR, Steinbach PJ, Fuqua BK, Parisi X, Kaler SG, Vulpe CD, Anderson GJ, Gahl WA, Malicdan MCV. Sharma P, et al. Among authors: steinbach pj. PLoS Genet. 2019 May 24;15(5):e1008143. doi: 10.1371/journal.pgen.1008143. eCollection 2019 May. PLoS Genet. 2019. PMID: 31125343 Free PMC article.
Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
Stephen J, Nampoothiri S, Banerjee A, Tolman NJ, Penninger JM, Elling U, Agu CA, Burke JD, Devadathan K, Kannan R, Huang Y, Steinbach PJ, Martinis SA, Gahl WA, Malicdan MCV. Stephen J, et al. Among authors: steinbach pj. Hum Genet. 2018 Apr;137(4):293-303. doi: 10.1007/s00439-018-1882-3. Epub 2018 Apr 24. Hum Genet. 2018. PMID: 29691655 Free PMC article.
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.
Vilboux T, Malicdan MC, Roney JC, Cullinane AR, Stephen J, Yildirimli D, Bryant J, Fischer R, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program; Steinbach PJ, Gahl WA, Gunay-Aygun M. Vilboux T, et al. Among authors: steinbach pj. Am J Med Genet A. 2017 Mar;173(3):661-666. doi: 10.1002/ajmg.a.38005. Epub 2017 Jan 4. Am J Med Genet A. 2017. PMID: 28052552 Free PMC article.
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.
Nolin SL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A, Biancalana V, Bröndum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel JL, Matthijs G, Rousseau F, Steinbach P, Väisänen ML, von Koskull H, Sherman SL. Nolin SL, et al. Am J Hum Genet. 2003 Feb;72(2):454-64. doi: 10.1086/367713. Epub 2003 Jan 14. Am J Hum Genet. 2003. PMID: 12529854 Free PMC article.
185 results