1. Mykytyn K, Nishimura DY, Searby CC, Beck G, Bugge K, Streb LM, Cornier A, Cox GF, Fulton AB, Carmi R, Luleci G, Iannaccone A, Jacobson SG, Weleber RG, Wright AF, Riise R, Hennekam RCM, Biesecker LG, Stone EM, Sheffield VC. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet (In press) 2. Turner C, Killoran C, Thomas NST, Rosenberg M, Chuzhanova NA, Kemel Y, Cooper DN, Biesecker LG. Human genetic disease caused by mitochondrial-nuclear DNA transfer associated with radiation exposure. Hum Genet (In press) 3. 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, Schäffer AA, Biesecker LG. Mutation in the deoxynucleotide carrier DNC causes microcephaly. Nature Genet 2002 32:175-9 4. Slavotinek AM, Al-Gazali L, Hennekam RCM, Schrander-Stumpel C, Orcaña-Losa M, Pardo-Reoyo, S, Cantani A, Capellini Q, Neri G, Zackai E, Biesecker LG. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and Bardet-Biedl syndrome patients. Hum Genet 2002 110:561-7 5. Ng D, Hadley D, Tifft C, Biesecker LG. Genetic Heterogeneity of Syndromic X-Linked Recessive Microphthalmia-Anophthalmia: Is Lenz Microphthalmia a Single Disorder? Am J Med Genet 2002 110:308-14 6. Biesecker LG. Polydactyly: How many disorders and how many genes? Am J Med Genet 2002 112:279-83 7. Lublin M, Schwartzentruber DJ, Lukish J, Chester C, Biesecker LG, Newman KD. Principles for the surgical management of patients with proteus pyndrome and patients with overgrowth not meeting proteus criteria. J Pediatr Surg 2002 37(7):1013-20 8. Biesecker, LG. Greig cephalopolysyndactyly syndrome. GeneClinics http://www.geneclinics.org/profiles/gcps/index.html 9. Slavotinek A, Biesecker, LG. Unfolding the role of chaperones in human disease. Trends Genet 2001 17(9):528-35 10. Rosenberg MJ, Killoran C, Dziadzio L, Chang S, Marinetti M, Stone DL, Meck J, Aughton D, Bird LM, Bodurtha J, Cassidy SB, Graham JM Jr., Grix A, Guttmacher A, Hudgins L, Kozma C, Michaelis R, Pauli R, Peters KF, Rosenbaum KN, Tifft CJ, Wargowski D, Williams MS, Biesecker LG. Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations. Hum Genet 2001 109:311-8 11. Frattali CM, Liow K, Craig GH, Korenman LM, Makhlouf L, Sato S, Biesecker LG, Theodore WH. Cognitive Deficits in Children with Gelastic Seizures and Hypothalamic Hamartoma. Neurology 2001 57(1):43-6 12. Galasso C, Sciré G, Fabbri F, Spadoni GL, Killoran CE, Biesecker LG, Boscherini B. Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome. Am J Med Genet 2001 99:128-31 13. Rosenthal E, Biesecker LG, Biesecker BB. Parental attitudes toward a diagnosis in children with undiagnosed multiple congenital anomaly syndrome. Am J Med Genet 2001 103(2):106-114 14. Robin NH, Biesecker LG. A Multiaxis Nomenclature System for the Medical Genetics Clinic. Genetic Med 2001 3(4):290-3 15. Biesecker, LG. Clinical Center Grand Rounds: The multifaceted challenges of Proteus syndrome. JAMA 2001 285(17):2240-3 16. Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Powell BLB, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SM, Biesecker LG, Heon E, Iannacconne A, Jacobson SG, Stone EM, Sheffield VC. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Molec Genet 2001 10(8)865-74
