Publications

Journal Article
Johnatty SE, Abdellatif M, Shimmin L, Clark RB, Boerwinkle E. Beta 2 adrenergic receptor 5' haplotypes influence promoter activity. Br J Pharmacol. 2002 ;137(8):1213-6.
Richards S, Murali SC. Best Practices in Insect Genome Sequencing: What Works and What Doesn't. Curr Opin Insect Sci. 2015 ;7:1-7.
Austin-Tse CA, Jobanputra V, Perry DL, Bick D, Taft RJ, Venner E, Gibbs RA, Young T, Barnett S, Belmont JW, Boczek N, Chowdhury S, Ellsworth KA, Guha S, Kulkarni S, Marcou C, Meng L, Murdock DR, Rehman AU, Spiteri E, Thomas-Wilson A, Kearney HM, Rehm HL. Best practices for the interpretation and reporting of clinical whole genome sequencing. NPJ Genom Med. 2022 ;7(1):27.
Grove ML, Yu B, Cochran BJ, Haritunians T, Bis JC, Taylor KD, Hansen M, Borecki IB, L Cupples A, Fornage M, Gudnason V, Harris TB, Kathiresan S, Kraaij R, Launer LJ, Levy D, Liu Y, Mosley T, Peloso GM, Psaty BM, Rich SS, Rivadeneira F, Siscovick DS, Smith AV, Uitterlinden A, van Duijn CM, Wilson JG, O'Donnell CJ, Rotter JI, Boerwinkle E. Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium. PLoS One. 2013 ;8(7):e68095.
Sedlazeck FJ, Talloji P, von Haeseler A, Bachmair A. Benefit-of-doubt (BOD) scoring: a sequencing-based method for SNP candidate assessment from high to medium read number data sets. Genomics. 2013 ;101(3):204-9.
Paulin LF, Fan J, O'Neill K, Pleasance E, Porter VL, Jones SJM, Sedlazeck FJ. The benefit of a complete reference genome for cancer structural variant analysis. medRxiv. 2024 ;.
Wagner J, Olson ND, Harris L, Khan Z, Farek J, Mahmoud M, Stankovic A, Kovacevic V, Yoo B, Miller N, Rosenfeld JA, Ni B, Zarate S, Kirsche M, Aganezov S, Schatz MC, Narzisi G, Byrska-Bishop M, Clarke W, Evani US, Markello C, Shafin K, Zhou X, Sidow A, Bansal V, Ebert P, Marschall T, Lansdorp P, Hanlon V, Mattsson C-A, Barrio AMartinez, Fiddes IT, Xiao C, Fungtammasan A, Chin C-S, Wenger AM, Rowell WJ, Sedlazeck FJ, Carroll A, Salit M, Zook JM. Benchmarking challenging small variants with linked and long reads. Cell Genom. 2022 ;2(5).
Rogers J. The behavioral genetics of nonhuman primates: Status and prospects. Am J Phys Anthropol. 2018 ;165 Suppl 65:23-36.
Worley KC, Culpepper P, Wiese BA, Smith RF. BEAUTY-X: enhanced BLAST searches for DNA queries. Bioinformatics. 1998 ;14(10):890-1.
Worley KC, Wiese BA, Smith RF. BEAUTY: an enhanced BLAST-based search tool that integrates multiple biological information resources into sequence similarity search results. Genome Res. 1995 ;5(2):173-84.
Peters TL, Kumar V, Polikepahad S, Lin FY, Sarabia SF, Liang Y, Wang W-L, Lazar AJ, Doddapaneni H, Chao H, Muzny DM, Wheeler DA, M Okcu F, Plon SE, M Hicks J, López-Terrada D, D Parsons W, Roy A. BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children. Mod Pathol. 2015 ;28(4):575-86.
Smith RF, Wiese BA, Wojzynski MK, Davison DB, Worley KC. BCM Search Launcher--an integrated interface to molecular biology data base search and analysis services available on the World Wide Web. Genome Res. 1996 ;6(5):454-62.
Guo B, Villagran A, Vannucci M, Wang J, Davis C, Man T-K, Lau C, Guerra R. Bayesian estimation of genomic copy number with single nucleotide polymorphism genotyping arrays. BMC Res Notes. 2010 ;3:350.
Voidonikolas G, Kreml SS, Chen C, Fisher WE, F Brunicardi C, Gibbs RA, Gingras M-C. Basic principles and technologies for deciphering the genetic map of cancer. World J Surg. 2009 ;33(4):615-29.
Xue C, Chen H, Yu F. Base-Biased Evolution of Disease-Associated Mutations in the Human Genome. Hum Mutat. 2016 ;37(11):1209-1214.
Nasser W, Santhanam B, Miranda ERoshan, Parikh A, Juneja K, Rot G, Dinh C, Chen R, Zupan B, Shaulsky G, Kuspa A. Bacterial discrimination by dictyostelid amoebae reveals the complexity of ancient interspecies interactions. Curr Biol. 2013 ;23(10):862-72.
Hoskins RA, Nelson CR, Berman BP, Laverty TR, George RA, Ciesiolka L, Naeemuddin M, Arenson AD, Durbin J, David RG, Tabor PE, Bailey MR, DeShazo DR, Catanese J, Mammoser A, Osoegawa K, de Jong PJ, Celniker SE, Gibbs RA, Rubin GM, Scherer SE. A BAC-based physical map of the major autosomes of Drosophila melanogaster. Science. 2000 ;287(5461):2271-4.
Rogers J, Hixson JE. Baboons as an animal model for genetic studies of common human disease. Am J Hum Genet. 1997 ;61(3):489-93.
Moore CM, Leland MM, Brzyski RG, McKeand J, Witte SM, Rogers J. A baboon (Papio hamadryas) with an isochromosome for the long arm of the X. Cytogenet Cell Genet. 1998 ;82(1-2):80-2.
Zhao C, Shukle R, Navarro-Escalante L, Chen M, Richards S, Stuart JJ. Avirulence gene mapping in the Hessian fly (Mayetiola destructor) reveals a protein phosphatase 2C effector gene family. J Insect Physiol. 2016 ;84:22-31.
Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA, Bamshad MJ. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet. 2015 ;96(5):841-9.
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 ;15(1):62-9.
Fowler J, Kouramajian V, Maram S, Devadhar V. Automated MeSH indexing of the World-Wide Web. Proc Annu Symp Comput Appl Med Care. 1995 ;:893-7.
Edwards A, Gibbs RA, Nguyen PN, Ansorge W, Caskey CT. Automated DNA sequencing methods for detection and analysis of mutations: applications to the Lesch-Nyhan syndrome. Trans Assoc Am Physicians. 1989 ;102:185-94.
Liu Z, Roberts R, Mercer TR, Xu J, Sedlazeck FJ, Tong W. Author Correction: Towards accurate and reliable resolution of structural variants for clinical diagnosis. Genome Biol. 2022 ;23(1):198.