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Leslie G. Biesecker, M.D.
Selected Publications
Kang S, Graham JM, Olney AH, Biesecker LG. GLI3 frameshift mutations cause the Pallister-Hall syndrome. Nat Genet, 15(3):266-8. 1997. [PubMed]
Shin S, Kogerman P, Lindstom E, Toftard R, Biesecker LG. GLI3 mutations in human disorders mimic cubitus interruptus gene functions and localization. Proc Nat Acad Sci U S A, 96:2880-4. 1999. [PubMed]
Slavotinek, AM, Stone EM, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield V, Biesecker LG. Bardet Biedl syndrome can be caused by mutations in MKKS. Nat Genet, 26:15-6. 2000. [PubMed]
Stone D, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis A, Barr M, Biesecker LG. Mutations in a putative chaperonin cause the McKusick-Kaufman syndrome. Nat Genet, 25:79-82. 2000. [PubMed]
Biesecker LG. The multifaceted challenges of Proteus syndrome. JAMA, 285(17):2240-3. 2001. [PubMed]
Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schaffer AA, Biesecker LG. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet, 32(1):175-9. 2002. [PubMed]
Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AOM, van der Smagt J, Gorlin RJ, Burgess SM, Bardwell VJ, Black GCM, Biesecker LG. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in the X-linked transcriptional corepressor, BCOR. Nature Genetics, 36:411-6. 2004. [PubMed]
Biesecker LG, Bailey-Wilson JE, Ballantyne J, Baum H, Bieber FR, Brenner C, Budowle B, Butler JM, Carmody G, Conneally PM, Duceman B, Eisenberg A, Forman L, Kidd KK, Leclair B, Niezgoda S, Parsons TJ, Pugh E, Shaler R, Sherry ST, Sozer A, Walsh A. DNA Identifications After the 9/11 World Trade Center Attack. Science, 310(5751):1122-3. 2005. [PubMed]
Johnston JJ, Olivos-Glander I, Killoran C, Turner J, Peters K, Abbott MH, Aughton DJ, Curry CJ, David A, Dinulos MB, Fox MA, Graham JM, Jr, Grange K, Guttmacher AE, Hannibal M, Henn W, Hennekam RCM, Holmes LB, Hoyme HE, Leppig KA, Lin AE, MacLeod P, Manchester DK, Mazzanti L, McDonald MM, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, III, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GCM, Biesecker LG. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister Hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet, 76:609-622. 2005. [PubMed]
Lindhurst MJ, Fiermonte G,Song S, Struys E, De Leonardis F, Schwartzberg PL, Chen A, Castegna A, Verhoeven N, Mathews CK, Palmieri F, Biesecker LG. Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. Proc Natl Acad Sci U S A, 24;103(43):15927-32. 2006. [PubMed]
Johnston JJ, Walker RL, Davis S, Facio F, Turner JT, Bick DP, Daentl DL, Ellison JW, Meltzer PS and Biesecker LG . Zoom-in CGH arrays for the characterization of variable breakpoint contiguous gene syndromes. J Med Genet, 44(1):e59. 2007. [PubMed]
Ulucan H, Gül D, Sapp JC, Cockerham J, Johnston JJ, Biesecker LG. Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene. BMC Med Genet, 9:92. 2008. [PubMed Central]
Biesecker LG, Aase JM, Clericuzio C, Gurrieri F, Temple IK, Toriello H. Elements of morphology: standard terminology for the hands and feet. Am J Med Genet A, 149A(1):93-127. 2009. [PubMed]
Last Updated: May 4, 2009
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