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Leslie G. Biesecker, M.D.

Chief & Senior Investigator, Medical Genomics and Metabolic Genetics Branch
Head, Human Development Section

Selected Publications

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]

Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schäffer AA, Francomano CA, Biesecker LG. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet, 67:814-821. 2000. [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, 26:15-16. 2000. [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]

Lindhurst MJ, Fiermonte G, Song S, Struys E, DeLeonardis 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 Nat Acad Sci USA, 103:15927-15932. 2006. [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]

Gildea DE, Luetkemeier ES, Bao X, Loftus S, Mackem S, Yang Y, Pavan W, Biesecker LG. The pleiotropic mouse phenotype extra-toes spotting is caused by translation initiation factor Eif3c mutations and is associated with disrupted sonic hedgehog signaling. FASEB J, 25:1596-1605. 2011. [PubMed]

Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, O'Brien K, Hauser NS, Sapp JC, NISC, Barshop BA, Berry S, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Nyhan WL, Biesecker LG, Venditti CP. Whole exome sequencing identifies mutations in ACSF3 as the cause of combined malonic and methylmalonic aciduria. Nat Genet, 43:883-886. 2011. [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]

Teer JK, Green ED, Mullikin JC, Biesecker LG. VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer. Bioinformatics, 28:599-600. 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]

Johnston JJ, Rubinstein WS, Facio F, Ng D, Singh L, Teer J, Mullikin J, Biesecker LG. Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet, 91:97-108. 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

Ng D, Johnston JJ, Teer JK, Singh, Peller LN, Lewis KL, NISC Comparative Sequencing Program, Mullikin JC, Biesecker LG. Interpreting secondary cardiac disease variants in an exome cohort. Circ Cardiovasc Genet, 6:337-346. 2013. [PubMed]

Gonsalves SG, Ng D, Johnston JJ, Teer JK, NISC Comparative Sequencing Program; Mullikin JC, Biesecker LG. A genomic approach to malignant hyperthermia susceptibility. Anesthesiology, 119:1043-1053. 2013. [PubMed]

Johnston J Lewis K, Ng D, Singh LN, Wynter J, Brewer C, Brooks BP, Brownell I, Candotti F, Gonsalves SG, Hart SP, Kong HH, Rother KI, Sokolic R, Solomon BD, Zein WM, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG. Individualized iterative phenotyping for genome-wide analysis of loss of function mutations. Am J Hum Genet,  96:913-925. 2015. [PubMed]

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Last Updated: September 22, 2015