Publications

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2016
Campbell IM, Gambin T, Jhangiani S, Grove ML, Veeraraghavan N, Muzny DM, Shaw CA, Gibbs RA, Boerwinkle E, Yu F, Lupski JR. Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. Hum Mutat. 2016 ;37(3):231-234.
Chen F, Zhang Y, Şenbabaoğlu Y, Ciriello G, Yang L, Reznik E, Shuch B, Micevic G, De Velasco G, Shinbrot E, Noble MS, Lu Y, Covington KR, Xi L, Drummond JA, Muzny DM, Kang H, Lee J, Tamboli P, Reuter V, Shelley CSimon, Kaipparettu BA, Bottaro DP, Godwin AK, Gibbs RA, Getz G, Kucherlapati R, Park PJ, Sander C, Henske EP, Zhou JH, Kwiatkowski DJ, Ho TH, Choueiri TK, Hsieh JJ, Akbani R, Mills GB, A Hakimi A, Wheeler DA, Creighton CJ. Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma. Cell Rep. 2016 ;14(10):2476-89.
Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim M-S, Kim KHo, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 ;7:10713.
Bissig-Choisat B, Kettlun-Leyton C, Legras XD, Zorman B, Barzi M, Chen LL, Amin MD, Huang Y-H, Pautler RG, Hampton OA, Prakash MM, Yang D, Borowiak M, Muzny DM, Doddapaneni H, Hu J, Shi Y, M Gaber W, M Hicks J, Thompson PA, Lu Y, Mills GB, Finegold M, Goss JA, D Parsons W, Vasudevan SA, Sumazin P, López-Terrada D, Bissig K-D. Novel patient-derived xenograft and cell line models for therapeutic testing of pediatric liver cancer. J Hepatol. 2016 ;65(2):325-33.
Becnel LB, Pereira S, Drummond JA, Gingras M-C, Covington KR, Kovar CL, Doddapaneni H, Hu J, Muzny DM, McGuire AL, Wheeler DA, Gibbs RA. An open access pilot freely sharing cancer genomic data from participants in Texas. Sci Data. 2016 ;3:160010.
Gawlinski P, Posmyk R, Gambin T, Sielicka D, Chorazy M, Nowakowska B, Jhangiani SN, Muzny DM, Bekiesinska-Figatowska M, Bal J, Boerwinkle E, Gibbs RA, Lupski JR, Wiszniewski W. PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. Pediatr Neurol. 2016 ;60:83-7.
Tuysuz B, Pehlivan D, Özkök A, Jhangiani S, Yalcinkaya C, Zeybek ÇAktuğlu, Muzny DM, Lupski JR, Gibbs RA, Jaeken J. Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation. JIMD Rep. 2016 ;26:7-12.
White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, V Sutton R. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 ;8(1):3.
Xue C, Raveendran M, Harris RA, Fawcett GL, Liu X, White S, Dahdouli M, Deiros DRio, Below JE, Salerno W, Cox L, Fan G, Ferguson B, Horvath J, Johnson Z, Kanthaswamy S, H Kubisch M, Liu D, Platt M, Smith DG, Sun B, Vallender EJ, Wang F, Wiseman RW, Chen R, Muzny DM, Gibbs RA, Yu F, Rogers J. The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences. Genome Res. 2016 ;26(12):1651-1662.
Sorte HS, Osnes LT, Fevang B, Aukrust P, Erichsen HC, Backe PH, Abrahamsen TG, Kittang OB, Øverland T, Jhangiani SN, Muzny DM, Vigeland MD, Samarakoon P, Gambin T, Akdemir ZHC, Gibbs RA, Rødningen OK, Lyle R, Lupski JR, Stray-Pedersen A. A potential founder variant in in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction. Mol Genet Genomic Med. 2016 ;4(6):604-616.
Yu B, Pulit SL, Hwang S-J, Brody JA, Amin N, Auer PL, Bis JC, Boerwinkle E, Burke GL, Chakravarti A, Correa A, Dreisbach AW, Franco OH, Ehret GB, Franceschini N, Hofman A, Lin D-Y, Metcalf GA, Musani SK, Muzny DM, Palmas W, Raffel L, Reiner A, Rice K, Rotter JI, Veeraraghavan N, Fox E, Guo X, North KE, Gibbs RA, van Duijn CM, Psaty BM, Levy D, Newton-Cheh C, Morrison AC. Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. Circ Cardiovasc Genet. 2016 ;9(1):64-70.
Harel T, Yoon WHee, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RAlan, Muzny DM, Lotze TE, Boerwinkle E, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 ;99(4):831-845.
Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZHande Coba, Emrick L, Wilnai Y, Schelley S, Koenig MKay, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GHB, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 ;98(2):347-57.
Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZHC, Jhangiani SN, Withers MA, Goksungur MTuba, Carvalho CMB, Czesnik D, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Gibbs RA, Rautenstrauss B, Sereda MW, Lupski JR. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med. 2016 ;18(5):443-51.
Davis CF, Ritter DI, Wheeler DA, Wang H, Ding Y, Dugan SP, Bainbridge MN, Muzny DM, Rao PH, Man T-K, Plon SE, Gibbs RA, Lau CC. SV-STAT accurately detects structural variation via alignment to reference-based assemblies. Source Code Biol Med. 2016 ;11:8.
Ozantürk A, Davis EE, Sabo A, Weiss MM, Muzny DM, Dugan-Perez S, Sistermans EA, Gibbs RA, Özgül KR, Yalnızoglu D, Serdaroglu E, Dursun A, Katsanis N. A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay. Cold Spring Harb Mol Case Stud. 2016 ;2(2):a000703.
Hsu Y-H, Li G, Liu C-T, Brody JA, Karasik D, Chou W-C, Demissie S, Nandakumar K, Zhou Y, Cheng C-H, Gill R, Gibbs RA, Muzny DM, Santibanez J, Estrada K, Rivadeneira F, Harris T, Gudnason V, Uitterlinden A, Psaty BM, Robbins JA, L Cupples A, Kiel DP. Targeted sequencing of genome wide significant loci associated with bone mineral density (BMD) reveals significant novel and rare variants: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study. Hum Mol Genet. 2016 ;25(23):5234-5243.
Prescott TE, Kulseth MAnn, Heimdal KR, Stadheim B, Hopp E, Gambin T, Akdemir ZHCoban, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A. Two male sibs with severe micrognathia and a missense variant in MED12. Eur J Med Genet. 2016 ;59(8):367-72.
Benoit JB, Adelman ZN, Reinhardt K, Dolan A, Poelchau M, Jennings EC, Szuter EM, Hagan RW, Gujar H, Shukla JNath, Zhu F, Mohan M, Nelson DR, Rosendale AJ, Derst C, Resnik V, Wernig S, Menegazzi P, Wegener C, Peschel N, Hendershot JM, Blenau W, Predel R, Johnston PR, Ioannidis P, Waterhouse RM, Nauen R, Schorn C, Ott M-C, Maiwald F, J Johnston S, Gondhalekar AD, Scharf ME, Peterson BF, Raje KR, Hottel BA, Armisén D, Crumière AJean Johan, Refki PNagui, Santos MEmilia, Sghaier E, Viala S, Khila A, Ahn S-J, Childers C, Lee C-Y, Lin H, Hughes DST, Duncan EJ, Murali SC, Qu J, Dugan S, Lee SL, Chao H, Dinh H, Han Y, Doddapaneni H, Worley KC, Muzny DM, Wheeler D, Panfilio KA, Jentzsch IMVargas, Vargo EL, Booth W, Friedrich M, Weirauch MT, Anderson MAE, Jones JW, Mittapalli O, Zhao C, Zhou J-J, Evans JD, Attardo GM, Robertson HM, Zdobnov EM, Ribeiro JMC, Gibbs RA, Werren JH, Palli SR, Schal C, Richards S. Unique features of a global human ectoparasite identified through sequencing of the bed bug genome. Nat Commun. 2016 ;7:10165.
Bi W, Glass IA, Muzny DM, Gibbs RA, Eng CM, Yang Y, Sun A. Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). Am J Med Genet A. 2016 ;170(8):2181-5.
Lubitz SA, Brody JA, Bihlmeyer NA, Roselli C, Weng L-C, Christophersen IE, Alonso A, Boerwinkle E, Gibbs RA, Bis JC, L Cupples A, Mohler PJ, Nickerson DA, Muzny DM, Perez MV, Psaty BM, Soliman EZ, Sotoodehnia N, Lunetta KL, Benjamin EJ, Heckbert SR, Arking DE, Ellinor PT, Lin H. Whole Exome Sequencing in Atrial Fibrillation. PLoS Genet. 2016 ;12(9):e1006284.
Yu B, de Vries PS, Metcalf GA, Wang Z, Feofanova EV, Liu X, Muzny DM, Wagenknecht LE, Gibbs RA, Morrison AC, Boerwinkle E. Whole genome sequence analysis of serum amino acid levels. Genome Biol. 2016 ;17(1):237.
Papanicolaou A, Schetelig MF, Arensburger P, Atkinson PW, Benoit JB, Bourtzis K, Castañera P, Cavanaugh JP, Chao H, Childers C, Curril I, Dinh H, Doddapaneni H, Dolan A, Dugan S, Friedrich M, Gasperi G, Geib S, Georgakilas G, Gibbs RA, Giers SD, Gomulski LM, González-Guzmán M, Guillem-Amat A, Han Y, Hatzigeorgiou AG, Hernández-Crespo P, Hughes DST, Jones JW, Karagkouni D, Koskinioti P, Lee SL, Malacrida AR, Manni M, Mathiopoulos K, Meccariello A, Munoz-Torres M, Murali SC, Murphy TD, Muzny DM, Oberhofer G, Ortego F, Paraskevopoulou MD, Poelchau M, Qu J, Reczko M, Robertson HM, Rosendale AJ, Rosselot AE, Saccone G, Salvemini M, Savini G, Schreiner P, Scolari F, Siciliano P, Sim SB, Tsiamis G, Ureña E, Vlachos IS, Werren JH, Wimmer EA, Worley KC, Zacharopoulou A, Richards S, Handler AM. The whole genome sequence of the Mediterranean fruit fly, Ceratitis capitata (Wiedemann), reveals insights into the biology and adaptive evolution of a highly invasive pest species. Genome Biol. 2016 ;17(1):192.
Polfus LM, Khajuria RK, Schick UM, Pankratz N, Pazoki R, Brody JA, Chen M-H, Auer PL, Floyd JS, Huang J, Lange L, van Rooij FJA, Gibbs RA, Metcalf GA, Muzny DM, Veeraraghavan N, Walter K, Chen L, Yanek L, Becker LC, Peloso GM, Wakabayashi A, Kals M, Metspalu A, Esko T, Fox K, Wallace R, Franceschini N, Matijevic N, Rice KM, Bartz TM, Lyytikäinen L-P, Kähönen M, Lehtimäki T, Raitakari OT, Li-Gao R, Mook-Kanamori DO, Lettre G, van Duijn CM, Franco OH, Rich SS, Rivadeneira F, Hofman A, Uitterlinden AG, Wilson JG, Psaty BM, Soranzo N, Dehghan A, Boerwinkle E, Zhang X, Johnson AD, O'Donnell CJ, Johnsen JM, Reiner AP, Ganesh SK, Sankaran VG. Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. Am J Hum Genet. 2016 ;99(2):481-8.
Polfus LM, Boerwinkle E, Gibbs RA, Metcalf GA, Muzny DM, Veeraraghavan N, Grove M, Shete S, Wallace S, Milewicz D, Hanchard N, Lupski JR, Hashmi SShahrukh, Gupta-Malhotra M. Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome. Cold Spring Harb Mol Case Stud. 2016 ;2(6):a001255.