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Page 1
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.
Li YR, Glessner JT, Coe BP, Li J, Mohebnasab M, Chang X, Connolly J, Kao C, Wei Z, Bradfield J, Kim C, Hou C, Khan M, Mentch F, Qiu H, Bakay M, Cardinale C, Lemma M, Abrams D, Bridglall-Jhingoor A, Behr M, Harrison S, Otieno G, Thomas A, Wang F, Chiavacci R, Wu L, Hadley D, Goldmuntz E, Elia J, Maris J, Grundmeier R, Devoto M, Keating B, March M, Pellagrino R, Grant SFA, Sleiman PMA, Li M, Eichler EE, Hakonarson H. Li YR, et al. Among authors: grundmeier r. Nat Commun. 2020 Jan 14;11(1):255. doi: 10.1038/s41467-019-13624-1. Nat Commun. 2020. PMID: 31937769 Free PMC article.
Updated Diagnosis Grouping System for Pediatric Emergency Department Visits.
Fant C, Marin JR, Ramgopal S, Simon NE, Richards R, Olsen CS, Alessandrini EA, Alpern ER; PECARN Registry Study Group. Fant C, et al. Pediatr Emerg Care. 2023 May 1;39(5):299-303. doi: 10.1097/PEC.0000000000002692. Epub 2022 May 25. Pediatr Emerg Care. 2023. PMID: 35881008
Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.
Kugathasan S, Baldassano RN, Bradfield JP, Sleiman PM, Imielinski M, Guthery SL, Cucchiara S, Kim CE, Frackelton EC, Annaiah K, Glessner JT, Santa E, Willson T, Eckert AW, Bonkowski E, Shaner JL, Smith RM, Otieno FG, Peterson N, Abrams DJ, Chiavacci RM, Grundmeier R, Mamula P, Tomer G, Piccoli DA, Monos DS, Annese V, Denson LA, Grant SF, Hakonarson H. Kugathasan S, et al. Among authors: grundmeier r. Nat Genet. 2008 Oct;40(10):1211-5. doi: 10.1038/ng.203. Epub 2008 Aug 31. Nat Genet. 2008. PMID: 18758464 Free PMC article.
ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry.
Sleiman PM, Annaiah K, Imielinski M, Bradfield JP, Kim CE, Frackelton EC, Glessner JT, Eckert AW, Otieno FG, Santa E, Thomas K, Smith RM, Glaberson W, Garris M, Gunnlaugsson S, Chiavacci RM, Allen J, Spergel J, Grundmeier R, Grunstein MM, Magnusson M, Bisgaard H, Grant SF, Hakonarson H. Sleiman PM, et al. Among authors: grundmeier r. J Allergy Clin Immunol. 2008 Dec;122(6):1225-7. doi: 10.1016/j.jaci.2008.06.041. Epub 2008 Aug 28. J Allergy Clin Immunol. 2008. PMID: 18760456 No abstract available.
Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
Grant SF, Qu HQ, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Taback SP, Frackelton EC, Eckert AW, Annaiah K, Lawson ML, Otieno FG, Santa E, Shaner JL, Smith RM, Skraban R, Imielinski M, Chiavacci RM, Grundmeier RW, Stanley CA, Kirsch SE, Waggott D, Paterson AD, Monos DS; DCCT/EDIC Research Group; Polychronakos C, Hakonarson H. Grant SF, et al. Among authors: grundmeier rw. Diabetes. 2009 Jan;58(1):290-5. doi: 10.2337/db08-1022. Epub 2008 Oct 7. Diabetes. 2009. PMID: 18840781 Free PMC article.
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H. Shaikh TH, et al. Among authors: grundmeier r. Genome Res. 2009 Sep;19(9):1682-90. doi: 10.1101/gr.083501.108. Epub 2009 Jul 10. Genome Res. 2009. PMID: 19592680 Free PMC article.
17q12-21 variants interact with smoke exposure as a risk factor for pediatric asthma but are equally associated with early-onset versus late-onset asthma in North Americans of European ancestry.
Flory JH, Sleiman PM, Christie JD, Annaiah K, Bradfield J, Kim CE, Glessner J, Imielinski M, Li H, Frackelton EC, Cuiping H, Otieno G, Thomas K, Smith R, Glaberson W, Garris M, Chiavacci R, Allen J, Spergel J, Grundmeier R, Grunstein M, Magnusson M, Grant SF, Bønnelykke K, Bisgaard H, Hakonarson H. Flory JH, et al. Among authors: grundmeier r. J Allergy Clin Immunol. 2009 Sep;124(3):605-7. doi: 10.1016/j.jaci.2009.05.047. Epub 2009 Aug 5. J Allergy Clin Immunol. 2009. PMID: 19660801 No abstract available.
Common variants at five new loci associated with early-onset inflammatory bowel disease.
Imielinski M, Baldassano RN, Griffiths A, Russell RK, Annese V, Dubinsky M, Kugathasan S, Bradfield JP, Walters TD, Sleiman P, Kim CE, Muise A, Wang K, Glessner JT, Saeed S, Zhang H, Frackelton EC, Hou C, Flory JH, Otieno G, Chiavacci RM, Grundmeier R, Castro M, Latiano A, Dallapiccola B, Stempak J, Abrams DJ, Taylor K, McGovern D; Western Regional Alliance for Pediatric IBD; Silber G, Wrobel I, Quiros A; International IBD Genetics Consortium; Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD, Brant SR, Silverberg MS, Taylor KD, Barmuda MM, Bitton A, Dassopoulos T, Datta LW, Green T, Griffiths AM, Kistner EO, Murtha MT, Regueiro MD, Rotter JI, Schumm LP, Steinhart AH, Targan SR, Xavier RJ; NIDDK IBD Genetics Consortium; Libioulle C, Sandor C, Lathrop M, Belaiche J, Dewit O, Gut I, Heath S, Laukens D, Mni M, Rutgeerts P, Van Gossum A, Zelenika D, Franchimont D, Hugot JP, de Vos M, Vermeire S, Louis E; Belgian-French IBD Consortium; Wellcome Trust Case Control Consortium; Cardon LR, Anderson CA, Drummond H, Nimmo E, Ahmad T, Prescott NJ, Onnie CM, Fisher SA, Marchini J, Ghori J, Bumpstead S, Gwillam R, Tremelling M, Delukas P, Mansfield J, Jewell D, Satsangi J, Ma… See abstract for full author list ➔ Imielinski M, et al. Among authors: grundmeier r. Nat Genet. 2009 Dec;41(12):1335-40. doi: 10.1038/ng.489. Epub 2009 Nov 15. Nat Genet. 2009. PMID: 19915574 Free PMC article.
Variants of DENND1B associated with asthma in children.
Sleiman PM, Flory J, Imielinski M, Bradfield JP, Annaiah K, Willis-Owen SA, Wang K, Rafaels NM, Michel S, Bonnelykke K, Zhang H, Kim CE, Frackelton EC, Glessner JT, Hou C, Otieno FG, Santa E, Thomas K, Smith RM, Glaberson WR, Garris M, Chiavacci RM, Beaty TH, Ruczinski I, Orange JS, Allen J, Spergel JM, Grundmeier R, Mathias RA, Christie JD, von Mutius E, Cookson WO, Kabesch M, Moffatt MF, Grunstein MM, Barnes KC, Devoto M, Magnusson M, Li H, Grant SF, Bisgaard H, Hakonarson H. Sleiman PM, et al. Among authors: grundmeier r. N Engl J Med. 2010 Jan 7;362(1):36-44. doi: 10.1056/NEJMoa0901867. Epub 2009 Dec 23. N Engl J Med. 2010. PMID: 20032318 Free article.
Examination of genetic variants influencing lipid traits in pediatric populations.
Wang K, Zhang H, Mentch FD, Bradfield JP, Glessner JT, Qiu H, Guo Y, Hou C, Frackelton EC, Thomas K, Bender A, Albano A, Otieno G, Garris M, Seidler K, Moy A, Kim CE, Keating B, Chiavacci RM, Grundmeier R, Sleiman PA, Grant SF, Hakonarson H. Wang K, et al. Among authors: grundmeier r. J Pediatr Genet. 2012 Jun;1(2):85-98. doi: 10.3233/PGE-2012-016. J Pediatr Genet. 2012. PMID: 27625808 Free PMC article.
149 results