Jeff Towbin, M.D.
Jeff Towbin, M.D.
Yang, Z, Bowles, NE, Scherer, SE, Taylor, MD, Kearney, DL, Ge, S, Nadvoretskiy, VV, DeFreitas, G, Carabello, B et al. Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ. Res. 2006 Sep 15; 99(6):646-55. [PubMed]
Lalani, SR, Safiullah, AM, Fernbach, SD, Harutyunyan, KG, Thaller, C, Peterson, LE, McPherson, JD, Gibbs, RA, White, LD et al. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am. J. Hum. Genet. 2006 Feb; 78(2):303-14. [PubMed]
Maheshwari, M, Belmont, J, Fernbach, S, Ho, T, Molinari, L, Yakub, I, Yu, F, Combes, A, Towbin, J et al. PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. Hum. Mutat. 2002 Oct; 20(4):298-304. [PubMed]
Bowles, KR, Abraham, SE, Brugada, R, Zintz, C, Comeaux, J, Sorajja, D, Tsubata, S, Li, H, Brandon, L et al. Construction of a high-resolution physical map of the chromosome 10q22-q23 dilated cardiomyopathy locus and analysis of candidate genes. Genomics 2000 Jul 15; 67(2):109-27. [PubMed]
Guo, W, Worley, K, Adams, V, Mason, J, Sylvester-Jackson, D, Zhang, YH, Towbin, JA, Fogt, DD, Madu, S et al. Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene. Nat. Genet. 1993 Aug; 4(4):367-72. [PubMed]
Worley, KC, Ellison, KA, Zhang, YH, Wang, DF, Mason, J, Roth, EJ, Adams, V, Fogt, DD, Zhu, XM et al. Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21. Genomics 1993 May; 16(2):407-16. [PubMed]
Worley, KC, Towbin, JA, Zhu, XM, Barker, DF, Ballabio, A, Chamberlain, J, Biesecker, LG, Blethen, SL, Brosnan, P et al. Identification of new markers in Xp21 between DXS28 (C7) and DMD. Genomics 1992 Aug; 13(4):957-61. [PubMed]
Adams, V, Griffin, L, Towbin, J, Gelb, B, Worley, K, McCabe, ER. Porin interaction with hexokinase and glycerol kinase: metabolic microcompartmentation at the outer mitochondrial membrane. Biochem. Med. Metab. Biol. 1991 Jun; 45(3):271-91. [PubMed]