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2017
Stitziel NO, Khera AV, Wang X, Bierhals AJ, A Vourakis C, Sperry AE, Natarajan P, Klarin D, Emdin CA, Zekavat SM, Nomura A, Erdmann J, Schunkert H, Samani NJ, Kraus WE, Shah SH, Yu B, Boerwinkle E, Rader DJ, Gupta N, Frossard PM, Rasheed A, Danesh J, Lander ES, Gabriel S, Saleheen D, Musunuru K, Kathiresan S. ANGPTL3 Deficiency and Protection Against Coronary Artery Disease. J Am Coll Cardiol. 2017 ;69(16):2054-2063.
Goschzik T, Gessi M, Dreschmann V, Gebhardt U, Wang L, Yamaguchi S, Wheeler DA, Lauriola L, Lau CC, Müller HL, Pietsch T. Genomic Alterations of Adamantinomatous and Papillary Craniopharyngioma. J Neuropathol Exp Neurol. 2017 ;76(2):126-134.
Kariminejad A, Ajeawung NFonya, Bozorgmehr B, Dionne-Laporte A, Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC, Campeau PM. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. J Hum Genet. 2017 ;62(4):465-471.
Harms FLeonie, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng W-L, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MAM, Bézieau S, Cogné B, Isidor B, Küry S, Lupski JR, Myers RM, Cooper GM, Kutsche K. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet. 2017 ;100(1):117-127.
Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL, Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017 ;9(1):73.
Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi ARay, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VReid, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 ;171(12):e173438.
2016
Gu S, Posey JE, Yuan B, Carvalho CMB, Luk HM, Erikson K, Lo IFM, Leung GKC, Pickering CR, H Y Chung B, Lupski JR. Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation. Hum Mutat. 2016 ;37(2):160-4.
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 CM, 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.
Farlow JL, Robak LA, Hetrick K, Bowling K, Boerwinkle E, Coban-Akdemir ZH, Gambin T, Gibbs RA, Gu S, Jain P, Jankovic J, Jhangiani S, Kaw K, Lai D, Lin H, Ling H, Liu Y, Lupski JR, Muzny DM, Porter P, Pugh E, White J, Doheny K, Myers RM, Shulman JM, Foroud T. Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 ;73(1):68-75.
2015
Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SCS. Adult presentation of X-linked Conradi-Hünermann-Happle syndrome. Am J Med Genet A. 2015 ;167(6):1309-14.
Schick UM, Auer PL, Bis JC, Lin H, Wei P, Pankratz N, Lange LA, Brody J, Stitziel NO, Kim DS, Carlson CS, Fornage M, Haessler J, Hsu L, Jackson RD, Kooperberg C, Leal SM, Psaty BM, Boerwinkle E, Tracy R, Ardissino D, Shah S, Willer C, Loos R, Melander O, McPherson R, Hovingh K, Reilly M, Watkins H, Girelli D, Fontanillas P, Chasman DI, Gabriel SB, Gibbs RA, Nickerson DA, Kathiresan S, Peters U, Dupuis J, Wilson JG, Rich SS, Morrison AC, Benjamin EJ, Gross MD, Reiner AP. Association of exome sequences with plasma C-reactive protein levels in >9000 participants. Hum Mol Genet. 2015 ;24(2):559-71.
Yu B, Li AH, Muzny DM, Veeraraghavan N, de Vries PS, Bis JC, Musani SK, Alexander D, Morrison AC, Franco OH, Uitterlinden A, Hofman A, Dehghan A, Wilson JG, Psaty BM, Gibbs RA, Wei P, Boerwinkle E. Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease. Circ Cardiovasc Genet. 2015 ;8(2):351-5.
Peters TL, Kumar V, Polikepahad S, Lin FY, Sarabia SF, Liang Y, Wang W-L, Lazar AJ, Doddapaneni HV, 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.
Zaneveld J, Siddiqui S, Li H, Wang X, Wang H, Wang K, Li H, Ren H, Lopez I, Dorfman A, Khan A, Wang F, Salvo J, Gelowani V, Li Y, Sui R, Koenekoop R, Chen R. Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions. Genet Med. 2015 ;17(4):262-70.
Wang H, Wang X, Zou X, Xu S, Li H, Soens ZTore, Wang K, Li Y, Dong F, Chen R, Sui R. Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. Invest Ophthalmol Vis Sci. 2015 ;56(6):3642-55.
Pehlivan D, Akdemir ZCoban, Karaca E, Bayram Y, Jhangiani S, Yildiz EPembegul, Muzny DM, Uluc K, Gibbs RA, Elcioglu N, Lupski JR, Harel T. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet. 2015 ;134(6):671-3.
Beck TF, Campeau PM, Jhangiani SN, Gambin T, Li AH, Abo-Zahrah R, Jordan VK, Hernandez-Garcia A, Wiszniewski WK, Muzny DM, Gibbs RA, Boerwinkle E, Lupski JR, Lee B, Reardon W, Scott DA. FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 ;167A(4):831-6.
Bainbridge MN, Armstrong GN, M Gramatges M, Bertuch AA, Jhangiani SN, Doddapaneni HV, Lewis L, Tombrello J, Tsavachidis S, Liu Y, Jalali A, Plon SE, Lau CC, Parsons DW, Claus EB, Barnholtz-Sloan J, 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, Walsh KM, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Thompson PA, Muzny DM, Gibbs RA, Melin BS, Bondy ML. Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst. 2015 ;107(1):384.
Yuan B, Pehlivan D, Karaca E, Patel N, Charng W-L, Gambin T, Gonzaga-Jauregui C, V Sutton R, Yesil G, Bozdogan STug, Tos T, Koparir A, Koparir E, Beck CR, Gu S, Aslan H, Yuregir OOzalp, Rubeaan KAl, Alnaqeb D, Alshammari MJ, Bayram Y, Atik MM, Aydin H, B Geckinli B, Seven M, Ulucan H, Fenercioglu E, Ozen M, Jhangiani S, Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JR. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 ;125(2):636-51.
Ritter DI, Haines K, Cheung H, Davis CF, Lau CC, Berg JS, Brown CW, Thompson PA, Gibbs RA, Wheeler DA, Plon SE. Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing. Genet Med. 2015 ;17(10):831-5.
Day FR, Ruth KS, Thompson DJ, Lunetta KL, Pervjakova N, Chasman DI, Stolk L, Finucane HK, Sulem P, Bulik-Sullivan B, Esko T, Johnson AD, Elks CE, Franceschini N, He C, Altmaier E, Brody JA, Franke LL, Huffman JE, Keller MF, McArdle PF, Nutile T, Porcu E, Robino A, Rose LM, Schick UM, Smith JA, Teumer A, Traglia M, Vuckovic D, Yao J, Zhao W, Albrecht E, Amin N, Corre T, Hottenga J-J, Mangino M, Smith AV, Tanaka T, Abecasis GR, Andrulis IL, Anton-Culver H, Antoniou AC, Arndt V, Arnold AM, Barbieri C, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bernstein L, Bielinski SJ, Blomqvist C, Boerwinkle E, Bogdanova NV, Bojesen SE, Bolla MK, Borresen-Dale A-L, Boutin TS, Brauch H, Brenner H, Brüning T, Burwinkel B, Campbell A, Campbell H, Chanock SJ, J Chapman R, Chen Y-DIda, Chenevix-Trench G, Couch FJ, Coviello AD, Cox A, Czene K, Darabi H, De Vivo I, Demerath EW, Dennis J, Devilee P, Dörk T, Dos-Santos-Silva I, Dunning AM, Eicher JD, Fasching PA, Faul JD, Figueroa J, Flesch-Janys D, Gandin I, Garcia ME, García-Closas M, Giles GG, Girotto GG, Goldberg MS, González-Neira A, Goodarzi MO, Grove ML, Gudbjartsson DF, Guénel P, Guo X, Haiman CA, Hall P, Hamann U, Henderson BE, Hocking LJ, Hofman A, Homuth G, Hooning MJ, Hopper JL, Hu FB, Huang J, Humphreys K, Hunter DJ, Jakubowska A, Jones SE, Kabisch M, Karasik D, Knight JA, Kolcic I, Kooperberg C, Kosma V-M, Kriebel J, Kristensen V, Lambrechts D, Langenberg C, Li J, Li X, Lindström S, Liu Y, Luan J'an, Lubinski J, Mägi R, Mannermaa A, Manz J, Margolin S, Marten J, Martin NG, Masciullo C, Meindl A, Michailidou K, Mihailov E, Milani L, Milne RL, Müller-Nurasyid M, Nalls M, Neale BM, Nevanlinna H, Neven P, Newman AB, Nordestgaard BG, Olson JE, Padmanabhan S, Peterlongo P, Peters U, Petersmann A, Peto J, Pharoah PDP, Pirastu NN, Pirie A, Pistis G, Polasek O, Porteous D, Psaty BM, Pylkäs K, Radice P, Raffel LJ, Rivadeneira F, Rudan I, Rudolph A, Ruggiero D, Sala CF, Sanna S, Sawyer EJ, Schlessinger D, Schmidt MK, Schmidt F, Schmutzler RK, Schoemaker MJ, Scott RA, Seynaeve CM, Simard J, Sorice R, Southey MC, Stöckl D, Strauch K, Swerdlow A, Taylor KD, Thorsteinsdottir U, Toland AE, Tomlinson I, Truong T, Tryggvadottir L, Turner ST, Vozzi D, Wang Q, Wellons M, Willemsen G, Wilson JF, Winqvist R, Wolffenbuttel BBHR, Wright AF, Yannoukakos D, Zemunik T, Zheng W, Zygmunt M, Bergmann S, Boomsma DI, Buring JE, Ferrucci L, Montgomery GW, Gudnason V, Spector TD, van Duijn CM, Alizadeh BZ, Ciullo M, Crisponi L, Easton DF, Gasparini PP, Gieger C, Harris TB, Hayward C, Kardia SLR, Kraft P, McKnight B, Metspalu A, Morrison AC, Reiner AP, Ridker PM, Rotter JI, Toniolo D, Uitterlinden AG, Ulivi S, Völzke H, Wareham NJ, Weir DR, Yerges-Armstrong LM, Price AL, Stefansson K, Visser JA, Ong KK, Chang-Claude J, Murabito JM, Perry JRB, Murray A. Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat Genet. 2015 ;47(11):1294-303.
Xu M, Yang L, Wang F, Li H, Wang X, Wang W, Ge Z, Wang K, Zhao L, Li H, Li Y, Sui R, Chen R. Mutations in human IFT140 cause non-syndromic retinal degeneration. Hum Genet. 2015 ;134(10):1069-78.
Riveiro-Álvarez R, Xie YAngela, López-Martínez M-Á, Gambin T, Pérez-Carro R, Ávila-Fernández A, López-Molina M-I, Zernant J, Jhangiani S, Muzny DM, Yuan B, Boerwinkle E, Gibbs RA, Lupski JR, Ayuso C, Allikmets R. New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 ;133(2):133-9.
Hollister EB, Riehle K, Luna RAnn, Weidler EM, Rubio-Gonzales M, Mistretta T-A, Raza S, Doddapaneni HV, Metcalf GA, Muzny DM, Gibbs RA, Petrosino JF, Shulman RJ, Versalovic J. Structure and function of the healthy pre-adolescent pediatric gut microbiome. Microbiome. 2015 ;3:36.
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.