Publications

Export 60 results:
Filters: First Letter Of Title is F  [Clear All Filters]
2023
Dikilitas O, Sherafati A, Saadatagah S, Satterfield BA, Kochan DC, Anderson KC, Chung WK, Hebbring SJ, Salvati ZM, Sharp RR, Sturm AC, Gibbs RA, Rowley R, Venner E, Linder JE, Jones LK, Perez EF, Peterson JF, Jarvik GP, Rehm HL, Zouk H, Roden DM, Williams MS, Manolio TA, Kullo IJ. Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. Circ Genom Precis Med. 2023 ;16(2):e003816.
Behera S, LeFaive J, Orchard P, Mahmoud M, Paulin LF, Farek J, Soto DC, Parker SCJ, Smith AV, Dennis MY, Zook JM, Sedlazeck FJ. FixItFelix: improving genomic analysis by fixing reference errors. Genome Biol. 2023 ;24(1):31.
Mao K, Borel C, Ansar M, Jolly A, Makrythanasis P, Froehlich C, Iwaszkiewicz J, Wang B, Xu X, Li Q, Blanc X, Zhu H, Chen Q, Jin F, Ankamreddy H, Singh S, Zhang H, Wang X, Chen P, Ranza E, Paracha SAziz, Shah SFahim, Guida V, Piceci-Sparascio F, Melis D, Dallapiccola B, Digilio MCristina, Novelli A, Magliozzi M, Fadda MTeresa, Streff H, Machol K, Lewis RA, Zoete V, Squeo GMaria, Prontera P, Mancano G, Gori G, Mariani M, Selicorni A, Psoni S, Fryssira H, Douzgou S, Marlin S, Biskup S, De Luca A, Merla G, Zhao S, Cox TC, Groves AK, Lupski JR, Zhang Q, Zhang Y-B, Antonarakis SE. FOXI3 pathogenic variants cause one form of craniofacial microsomia. Nat Commun. 2023 ;14(1):2026.
Yang L, Chen X, Lee C, Shi J, Lawrence EB, Zhang L, Li Y, Gao N, Jung SYun, Creighton CJ, Li JJessica, Cui Y, Arimura S, Lei Y, Li W, Shen L. Functional characterization of age-dependent p16 epimutation reveals biological drivers and therapeutic targets for colorectal cancer. J Exp Clin Cancer Res. 2023 ;42(1):113.
2022
Li Z, Li X, Zhou H, Gaynor SM, Selvaraj MSunitha, Arapoglou T, Quick C, Liu Y, Chen H, Sun R, Dey R, Arnett DK, Auer PL, Bielak LF, Bis JC, Blackwell TW, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Conomos MP, Correa A, L Cupples A, Curran JE, de Vries PS, Duggirala R, Franceschini N, Freedman BI, Göring HHH, Guo X, Kalyani RR, Kooperberg C, Kral BG, Lange LA, Lin BM, Manichaikul A, Manning AK, Martin LW, Mathias RA, Meigs JB, Mitchell BD, Montasser ME, Morrison AC, Naseri T, O'Connell JR, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Reupena M'aSefuiva, Rice KM, Rich SS, Smith JA, Taylor KD, Taub MA, Vasan RS, Weeks DE, Wilson JG, Yanek LR, Zhao W, Rotter JI, Willer CJ, Natarajan P, Peloso GM, Lin X. A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. Nat Methods. 2022 ;19(12):1599-1611.
Orantes-Bonilla M, Makhoul M, Lee HT, Chawla HSingh, Vollrath P, Langstroff A, Sedlazeck FJ, Zou J, Snowdon RJ. Frequent spontaneous structural rearrangements promote rapid genome diversification in a F1 generation. Front Plant Sci. 2022 ;13:1057953.
Menon V, Okhuysen PC, Chappell CL, Mahmoud M, Mahmoud M, Meng Q, Doddapaneni H, Vee V, Han Y, Salvi S, Bhamidipati S, Kottapalli K, Weissenberger G, Shen H, Ross MC, Hoffman KL, Cregeen SJavornik, Muzny DM, Metcalf GA, Gibbs RA, Petrosino JF, Sedlazeck FJ. Fully resolved assembly of Cryptosporidium parvum. Gigascience. 2022 ;11.
Ma C, Chen N, Jolly A, Zhao S, Coban-Akdemir Z, Tian W, Kang J, Ye Y, Wang Y, Koch A, Zhang Y, Qin C, Bonilla X, Borel C, Rall K, Chen Z, Jhangiani S, Niu Y, Li X, Qiu G, Zhang S, Luo G, Wu Z, Bacopoulou F, Deligeoroglou E, Zhang TJianguo, Rosenberg C, Gibbs RA, Dietrich JE, Dimas AS, Liu P, Antonarakis SE, Brucker SY, Posey JE, Lupski JR, Wu N, Zhu L. Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome. Genet Med. 2022 ;24(11):2262-2273.
2017
Howson JMM, Zhao W, Barnes DR, Ho W-K, Young R, Paul DS, Waite LL, Freitag DF, Fauman EB, Salfati EL, Sun BB, Eicher JD, Johnson AD, Sheu WHH, Nielsen SF, Lin W-Y, Surendran P, Mälarstig A, Wilk JB, Tybjærg-Hansen A, Rasmussen KL, Kamstrup PR, Deloukas P, Erdmann J, Kathiresan S, Samani NJ, Schunkert H, Watkins H, Do R, Rader DJ, Johnson JA, Hazen SL, Quyyumi AA, Spertus JA, Pepine CJ, Franceschini N, Justice A, Reiner AP, Buyske S, Hindorff LA, Carty CL, North KE, Kooperberg C, Boerwinkle E, Young K, Graff M, Peters U, Absher D, Hsiung CA, Lee W-J, Taylor KD, Chen Y-H, Lee I-T, Guo X, Chung R-H, Hung Y-J, Rotter JI, Juang J-MJ, Quertermous T, Wang T-D, Rasheed A, Frossard P, Alam DS, Majumder AAl Shafi, Di Angelantonio E, Chowdhury, iv R, Chen Y-DIda, Nordestgaard BG, Assimes TL, Danesh J, Butterworth AS, Saleheen D. Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms. Nat Genet. 2017 ;49(7):1113-1119.
Pedroza LAlberto, Guerrero N, Stray-Pedersen A, Tafur C, Macias R, Muñoz G, Akdemir ZCoban, Jhangiani SN, Watkin LB, Chinn IK, Lupski JR, Orange JS. First Case of Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis. Front Pediatr. 2017 ;5:17.
Nambot S, Gavrilov D, Thevenon J, Bruel AL, Bainbridge M, Rio M, Goizet C, Rötig A, Jaeken J, Niu N, Xia F, Vital A, Houcinat N, Mochel F, Kuentz P, Lehalle D, Duffourd Y, Rivière JB, Thauvin-Robinet C, Beaudet AL, Faivre L. Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data. Clin Genet. 2017 ;92(2):188-198.
2015
Rahbar MH, Samms-Vaughan M, Dickerson AS, Loveland KA, Ardjomand-Hessabi M, Bressler J, Shakespeare-Pellington S, Grove ML, Boerwinkle E. Factors associated with blood lead concentrations of children in Jamaica. J Environ Sci Health A Tox Hazard Subst Environ Eng. 2015 ;50(6):529-39.
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.
van Leeuwen EM, Huffman JE, Bis JC, Isaacs A, Mulder M, Sabo A, Smith AV, Demissie S, Manichaikul A, Brody JA, Feitosa MF, Duan Q, Schraut KE, Navarro P, Van Vliet-Ostaptchouk JV, Zhu G, Mbarek H, Trompet S, Verweij N, Lyytikäinen L-P, Deelen J, Nolte IM, van der Laan SW, Davies G, Vermeij-Verdoold AJm, van Oosterhout AAlj, Vergeer-Drop JM, Arking DE, Trochet H, Medina-Gomez C, Rivadeneira F, Uitterlinden AG, Dehghan A, Franco OH, Sijbrands EJ, Hofman A, White CC, Mychaleckyj JC, Peloso GM, Swertz MA, Willemsen G, de Geus EJ, Milaneschi Y, Penninx BWjh, Ford I, Buckley BM, de Craen AJm, Starr JM, Deary IJ, Pasterkamp G, Oldehinkel AJ, Snieder H, P Slagboom E, Nikus K, Kähönen M, Lehtimäki T, Viikari JS, Raitakari OT, van der Harst P, J Jukema W, Hottenga J-J, Boomsma DI, Whitfield JB, Montgomery G, Martin NG, Polasek O, Vitart V, Hayward C, Kolcic I, Wright AF, Rudan I, Joshi PK, Wilson JF, Lange LA, Wilson JG, Gudnason V, Harris TB, Morrison AC, Borecki IB, Rich SS, Padmanabhan S, Psaty BM, Rotter JI, Smith BH, Boerwinkle E, L Cupples A, van Duijn C. Fine mapping the region reveals a common intronic insertion associated to HDL-C. NPJ Aging Mech Dis. 2015 ;1:15011.
Wang F, Jiang L, Chen Y, Haelterman NA, Bellen HJ, Chen R. FlyVar: a database for genetic variation in Drosophila melanogaster. Database (Oxford). 2015 ;2015.