Biesecker Publications

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services

Leslie G. Biesecker, M.D.

Chief & Senior Investigator, Genetic Disease Research Branch
Head, Human Development Section

Selected Publications

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, 285:2240-3. 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, 32:175-9. 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. Nat Genet, 36:411-6. 2004. [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]

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:93-127. 2009. [PubMed]

Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, Blakesley RW, Bouffard GG, Chines PS, Cruz P, Hansen NF, Teer JK, Maskeri B, Young AC; NISC Comparative Sequencing Program, Manolio TA, Wilson AF, Finkel T, Hwang P, Arai A, Remaley AT, Sachdev V, Shamburek R, Cannon RO, Green ED. The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine. Genome Res, 19(9):1665-74. 2009. [PubMed]

Johnston JJ, Teer JK, Cherukuri PF, Hansen NF, Loftus SK; NIH Intramural Sequencing Center, Chong K, Mullikin JC, Biesecker LG. Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet, 86:743-8. 2010. [PubMed]

Teer JK, Bonnycastle LL, Chines PS, Hansen NF, Aoyama N, Swift AJ, Abaan H, Albert TJ, NISC Comparative Sequencing Program, Margulies EH, Green ED, Collins FS, Mullikin JC, Biesecker LG. Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res, 20:1420-1431. 2010. [PubMed]

Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff M, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC for the NISC Comparative Sequencing Program, Biesecker LG. A mosaic cctivating mutation in AKT1 associated with the Proteus syndrome. New Engl J Med, 365:611-619. 2011. [PubMed]

Johnston JJ, Gropman A, Sapp JC, Teer J, Martin J, Brodsky R, Biesecker LG for the NIH Intramural Sequencing Center. The phenotype of a germline mutation in PIGA: The gene somatically mutated in paroxysmal nocturnal hemoglobinuria. Am J Hum Genet, 90:295-300. 2012. [PubMed]

Lindhurst MJ, Parker VER, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Walters MR, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJO, Barroso I, Biesecker LG, Semple RK. Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet, 44:928-933. 2012. [PubMed]

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire A, Nussbaum RL, O'Daniel JM, Ormond K, Rehm H, Watson MS, Williams MS, Biesecker LG. ACMG Recommendations for Reporting of Secondary Findings in Clinical Exome and Genome Sequencing. Genet Med, 15:565-574. 2013. [Full Text] PDF file

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Last Updated: August 23, 2013