Publications

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Journal Article
Schwartz S, Zhang Z, Frazer KA, Smit A, Riemer C, Bouck J, Gibbs R, Hardison R, Miller W. PipMaker--a web server for aligning two genomic DNA sequences. Genome Res. 2000 ;10(4):577-86.
Doddapaneni H, Subramanian V, Yadav JS. Physiological regulation, xenobiotic induction, and heterologous expression of P450 monooxygenase gene pc-3 (CYP63A3), a new member of the CYP63 gene cluster in the white-rot fungus Phanerochaete chrysosporium. Curr Microbiol. 2005 ;50(6):292-8.
Edwards MC, Clemens PR, Tristan M, Pizzuti A, Gibbs RA. Pentanucleotide repeat length polymorphism at the human CD4 locus. Nucleic Acids Res. 1991 ;19(17):4791.
Liu S, Ballian N, Belaguli NS, Patel S, Li M, Templeton NSmyth, Gingras M-C, Gibbs RA, Fisher W, F Brunicardi C. PDX-1 acts as a potential molecular target for treatment of human pancreatic cancer. Pancreas. 2008 ;37(2):210-20.
Ballabio A, Gibbs RA, Caskey CT. PCR test for cystic fibrosis deletion. Nature. 1990 ;343(6255):220.
Wang M, Futamura M, Wang Y, You M. Pas1c1 is a candidate for the mouse pulmonary adenoma susceptibility 1 locus. Oncogene. 2005 ;24(11):1958-63.
Subramanian V, Doddapaneni H, Syed K, Yadav JS. P450 redox enzymes in the white rot fungus Phanerochaete chrysosporium: gene transcription, heterologous expression, and activity analysis on the purified proteins. Curr Microbiol. 2010 ;61(4):306-14.
Bosch DGM, F Boonstra N, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LELM, Spruijt L, Blokland EAW, Chen C-A, Lewis RA, Tsai SY, Gibbs RA, Tsai M-J, Lupski JR, Zoghbi HY, Cremers FPM, de Vries BBA, Schaaf CP. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 ;94(2):303-9.
Athanassiadou A, Papachatzopoulou A, Zoumbos N, Maniatis GM, Gibbs RA. A novel beta-thalassaemia mutation in the 5' untranslated region of the beta-globin gene. Br J Haematol. 1994 ;88(2):307-10.
Pannu H, Tran-Fadulu V, Papke CL, Scherer SE, Liu Y, Presley C, Guo D, Estrera AL, Safi HJ, Brasier AR, G Vick W, Marian AJ, Raman CS, L Buja M, Milewicz DM. MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. Hum Mol Genet. 2007 ;16(20):2453-62.
Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AChun-Hui, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong C-T, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 ;95(5):579-83.
Kmoch S, Majewski J, Ramamurthy V, Cao S, Fahiminiya S, Ren H, MacDonald IM, Lopez I, Sun V, Keser V, Khan A, Stránecký V, Hartmannová H, Přistoupilová A, Hodaňová K, Piherová L, Kuchař L, Baxová A, Chen R, Barsottini OGP, Pyle A, Griffin H, Splitt M, Sallum J, Tolmie JL, Sampson JR, Chinnery P, Banin E, Sharon D, Dutta S, Grebler R, Helfrich-Foerster C, Pedroso JL, Kretzschmar D, Cayouette M, Koenekoop RK. Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. Nat Commun. 2015 ;6:5614.
Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, Sobreira NLygia de M, Perez ABeatriz A, Fortes JAR, Lampe AK, Uzielli MLuisa Giov, Gordon CT, Plessis G, Le Merrer M, Amiel J, Reichenberger E, Shively KM, Cerrato F, Labow BI, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ. Mutations in KCTD1 cause scalp-ear-nipple syndrome. Am J Hum Genet. 2013 ;92(4):621-6.
Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AMohammad, Saleh MAM, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong L-J, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet. 2013 ;93(3):471-81.
Gonzaga-Jauregui C, Gamble CN, Yuan B, Penney S, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Hecht JT. Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet. 2015 ;23(3):342-6.
Han S-J, Hu J, Pierce B, Weng Z, Renne R. Mutational analysis of the latency-associated nuclear antigen DNA-binding domain of Kaposi's sarcoma-associated herpesvirus reveals structural conservation among gammaherpesvirus origin-binding proteins. J Gen Virol. 2010 ;91(Pt 9):2203-15.
Ren L, Mamun AA al, Humayun MZ. The mutA mistranslator tRNA-induced mutator phenotype requires recA and recB genes, but not the derepression of lexA-regulated functions. Mol Microbiol. 1999 ;32(3):607-15.
Gibbs RA, Nguyen PN, Edwards A, Civitello AB, Caskey CT. Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics. 1990 ;7(2):235-44.
Zu Z, Yu Y, Gibbs RA, Caskey CT, Hsie AW. Multiplex DNA amplification and solid-phase direct sequencing for mutation analysis at the hprt locus in Chinese hamster cells. Mutat Res. 1993 ;288(2):237-48.
Takeuchi K, Irwin DM, Gallup M, Shinbrot E, Kai H, Stewart CB, Basbaum C. Multiple cDNA sequences of bovine tracheal lysozyme. J Biol Chem. 1993 ;268(36):27440-6.
Reid JG, Nagaraja AK, Lynn FC, Drabek RB, Muzny DM, Shaw CA, Weiss MK, Naghavi AO, Khan M, Zhu H, Tennakoon J, Gunaratne GH, Corry DB, Miller J, McManus MT, German MS, Gibbs RA, Matzuk MM, Gunaratne PH. Mouse let-7 miRNA populations exhibit RNA editing that is constrained in the 5'-seed/ cleavage/anchor regions and stabilize predicted mmu-let-7a:mRNA duplexes. Genome Res. 2008 ;18(10):1571-81.
Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng W-L, Karaca E, Asmari AAl, Eldomery MK, Hunter JV, Jhangiani SN, Rosenfeld JA, Pehlivan D, El-Hattab AW, Saleh MA, LeDuc CA, Muzny DM, Boerwinkle E, Gibbs RA, Chung WK, Yang Y, Belmont JW, Lupski JR. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 ;98(3):562-70.
Metzker ML, Mindell DP, Liu X-M, Ptak RG, Gibbs RA, Hillis DM. Molecular evidence of HIV-1 transmission in a criminal case. Proc Natl Acad Sci U S A. 2002 ;99(22):14292-7.
Nur-E-Kamal MS, Mamun AA al, Ahmed ZU. Molecular cloning of the wild-type and mutant thyA gene from Shigella flexneri Y. Microbiol Immunol. 1994 ;38(4):309-12.
Gordon RB, Dawson PA, Sculley DG, Emmerson BT, Caskey CT, Gibbs RA. The molecular characterisation of HPRT CHERMSIDE and HPRT COORPAROO: two Lesch-Nyhan patients with reduced amounts of mRNA. Gene. 1991 ;108(2):299-304.