Publications

Singh S, Wang Z, Shahin MH, Langaee TY, Gong Y, Turner ST, Chapman AB, Gums JG, McDonough CW, Bailey KR, Beitelshees AL, Cooper-Dehoff RM, Scherer SE, Boerwinkle E, Johnson JA. Targeted sequencing identifies a missense variant in the BEST3 gene associated with antihypertensive response to hydrochlorothiazide. Pharmacogenet Genomics. 2018 ;28(11):251-255.

Lin H, Sinner MF, Brody JA, Arking DE, Lunetta KL, Rienstra M, Lubitz SA, Magnani JW, Sotoodehnia N, McKnight B, McManus DD, Boerwinkle E, Psaty BM, Rotter JI, Bis JC, Gibbs RA, Muzny DM, Kovar CL, Morrison AC, Gupta M, Folsom AR, Kääb S, Heckbert SR, Alonso A, Ellinor PT, Benjamin EJ. Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study. Heart Rhythm. 2014 ;11(3):452-7.

Jalali A, E Amirian S, Bainbridge MN, Armstrong GN, Liu Y, Tsavachidis S, Jhangiani SN, Plon SE, Lau CC, Claus EB, Barnholtz-Sloan JS, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Muzny DM, Gibbs RA, Melin BS, Bondy ML. Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. Sci Rep. 2015 ;5:8278.

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.

Mukherjee A, Soyal SM, Wheeler DA, Fernández-Valdivia R, Nguyen J, DeMayo FJ, Lydon JP. Targeting iCre expression to murine progesterone receptor cell-lineages using bacterial artificial chromosome transgenesis. Genesis. 2006 ;44(12):601-10.

Chen W, Lin J, Wang L, Li X, Zhao S, Liu J, Akdemir ZC, Zhao Y, Du R, Ye Y, Song X, Zhang Y, Yan Z, Yang X, Lin M, Shen J, Wang S, Gao N, Yang Y, Liu Y, Li W, Liu J, Zhang N, Yang X, Xu Y, Zhang J, Delgado MR, Posey JE, Qiu G, Rios JJ, Liu P, Wise CA, Zhang F, Wu Z, Lupski JR, Wu N. TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat. 2020 ;41(1):182-195.

Liu J, Wu N, Yang N, Takeda K, Chen W, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, Pehlivan D, Dong S, Zhang J, Shen J, Si N, Wang Y, Liu G, Li S, Zhao Y, Zhao H, Chen Y, Zhao Y, Song X, Hu J, Lin M, Tian Y, Yuan B, Yu K, Niu Y, Yu B, Li X, Chen J, Yan Z, Zhu Q, Meng X, Chen X, Su J, Zhao X, Wang X, Ming Y, Li X, Raggio CL, Zhang B, Weng X, Zhang S, Zhang X, Watanabe K, Matsumoto M, Jin L, Shen Y, Sobreira NL, Posey JE, Giampietro PF, Valle D, Liu P, Wu Z, Ikegawa S, Lupski JR, Zhang F, Qiu G. TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. Genet Med. 2019 ;21(7):1548-1558.

Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet A-C, Ploski R, Rydzanicz M, Kępczyński Ł, Połatyńska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Coban-Akdemir Z, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV, Lupski JR. TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. Am J Hum Genet. 2022 ;109(12):2270-2282.

Smolka M, Rescheneder P, Schatz MC, von Haeseler A, Sedlazeck FJ. Teaser: Individualized benchmarking and optimization of read mapping results for NGS data. Genome Biol. 2015 ;16:235.

Fu J, Fu S, Yin S, Cheng J, Liu X, Jin Z, He T, Fu J. Technical note: multi-alleles at the DYS385ab locus with high frequency in a Han Chinese population from southwestern China. Int J Legal Med. 2021 ;135(5):1737-1741.

Thomas D, Garate D, Fu S, Bashir A, Moss N, Nair M. Telehealth reform post-public health emergency: crucial next steps. Proc (Bayl Univ Med Cent). 2023 ;36(2):269-271.

Koneru B, Lopez G, Farooqi A, Conkrite KL, Nguyen TH, Macha SJ, Modi A, Rokita JLynne, Urias E, Hindle A, Davidson H, McCoy K, Nance J, Yazdani V, Irwin MS, Yang S, Wheeler DA, Maris JM, Diskin SJ, C Reynolds P. Telomere Maintenance Mechanisms Define Clinical Outcome in High-Risk Neuroblastoma. Cancer Res. 2020 ;80(12):2663-2675.

Stewart CJ, Ajami NJ, O'Brien JL, Hutchinson DS, Smith DP, Wong MC, Ross MC, Lloyd RE, Doddapaneni H, Metcalf GA, Muzny DM, Gibbs RA, Vatanen T, Huttenhower C, Xavier RJ, Rewers M, Hagopian W, Toppari J, Ziegler A-G, She J-X, Akolkar B, Lernmark A, Hyoty H, Vehik K, Krischer JP, Petrosino JF. Temporal development of the gut microbiome in early childhood from the TEDDY study. Nature. 2018 ;562(7728):583-588.

Wu W, Stupi BP, Litosh VA, Mansouri D, Farley D, Morris S, Metzker S, Metzker ML. Termination of DNA synthesis by N6-alkylated, not 3'-O-alkylated, photocleavable 2'-deoxyadenosine triphosphates. Nucleic Acids Res. 2007 ;35(19):6339-49.

Metzker ML, Raghavachari R, Richards S, Jacutin SE, Civitello A, Burgess K, Gibbs RA. Termination of DNA synthesis by novel 3'-modified-deoxyribonucleoside 5'-triphosphates. Nucleic Acids Res. 1994 ;22(20):4259-67.

Jacutin S, Zhang AJ, Russell DH, Gibbs RA, Burgess K. Test of the potential of a dATP surrogate for sequencing via MALDI-MS. Nucleic Acids Res. 1997 ;25(24):5072-6.

Chittani M, Zaninello R, Lanzani C, Frau F, Ortu MF, Salvi E, Fresu G, Citterio L, Braga D, Piras DA, Carpini SDelli, Velayutham D, Simonini M, Argiolas G, Pozzoli S, Troffa C, Glorioso V, Kontula KK, Hiltunen TP, Donner KM, Turner ST, Boerwinkle E, Chapman AB, Padmanabhan S, Dominiczak AF, Melander O, Johnson JA, Cooper-Dehoff RM, Gong Y, Rivera NV, Condorelli G, Trimarco B, Manunta P, Cusi D, Glorioso N, Barlassina C. TET2 and CSMD1 genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives. J Hypertens. 2015 ;33(6):1301-9.

Petrow JM. [Theory of microcirculation. 1: Misinterpretations in Starling's hypothesis of microcirculation]. Z Gesamte Inn Med. 1990 ;45(18):531-5.

Whittle SB, Punia JN, López-Terrada D, Gaikwad A, Hampton OA, Heczey A. Therapy-related Acute Leukemia With Mixed Phenotype and Novel t(1: 6)(q25;p23) After Treatment for High-risk Neuroblastoma. J Pediatr Hematol Oncol. 2017 ;39(8):e486-e488.

Walker K, Kalra D, Lowdon R, Chen G, Molik D, Soto DC, Dabbaghie F, Khleifat AAl, Mahmoud M, Paulin LF, Raza MSohail, Pfeifer SP, Agustinho DPaiva, Aliyev E, Avdeyev P, Barrozo ER, Behera S, Billingsley K, Chong LChuin, Choubey D, De Coster W, Fu Y, Gener AR, Hefferon T, Henke DMorgan, Höps W, Illarionova A, Jochum MD, Jose M, Kesharwani RK, Kolora SRohit Raj, Kubica J, Lakra P, Lattimer D, Liew C-S, Lo B-W, Lo C, Lötter A, Majidian S, Mendem SKumar, Mondal R, Ohmiya H, Parvin N, Peralta C, Poon C-L, Prabhakaran R, Saitou M, Sammi A, Sanio P, Sapoval N, Syed N, Treangen T, Wang G, Xu T, Yang J, Zhang S, Zhou W, Sedlazeck FJ, Busby B. The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms. F1000Res. 2022 ;11:530.

Schaedel C, Hjelte L, de Monestrol I, Johannesson M, Kollberg H, Kornfält R, Holmberg L. Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden. Clin Genet. 1999 ;56(4):318-22.

Zhdanova IV, Rogers J, González-Martínez J, Farrer LA. The ticking clock of Cayo Santiago macaques and its implications for understanding human circadian rhythm disorders. Am J Primatol. 2016 ;78(1):117-26.

Peng X, Thierry-Mieg J, Thierry-Mieg D, Nishida A, Pipes L, Bozinoski M, Thomas MJ, Kelly S, Weiss JM, Raveendran M, Muzny DM, Gibbs RA, Rogers J, Schroth GP, Katze MG, Mason CE. Tissue-specific transcriptome sequencing analysis expands the non-human primate reference transcriptome resource (NHPRTR). Nucleic Acids Res. 2015 ;43(Database issue):D737-42.

Brown GJ, Cañete PF, Wang H, Medhavy A, Bones J, Roco JA, He Y, Qin Y, Cappello J, Ellyard JI, Bassett K, Shen Q, Burgio G, Zhang Y, Turnbull C, Meng X, Wu P, Cho E, Miosge LA, T Andrews D, Field MA, Tvorogov D, Lopez AF, Babon JJ, López CAparicio, Gónzalez-Murillo Á, Garulo DClemente, Pascual V, Levy T, Mallack EJ, Calame DG, Lotze T, Lupski JR, Ding H, Ullah TR, Walters GD, Koina ME, Cook MC, Shen N, Collantes Cde Lucas, Corry B, Gantier MP, Athanasopoulos V, Vinuesa CG. TLR7 gain-of-function genetic variation causes human lupus. Nature. 2022 ;605(7909):349-356.

Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RLP, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AIA, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd MLloyd, Khor CChuen, Chau NVan Vinh, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 ;93(2):197-210.