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Page 1
Evaluation of the portability of computable phenotypes with natural language processing in the eMERGE network.
Pacheco JA, Rasmussen LV, Wiley K Jr, Person TN, Cronkite DJ, Sohn S, Murphy S, Gundelach JH, Gainer V, Castro VM, Liu C, Mentch F, Lingren T, Sundaresan AS, Eickelberg G, Willis V, Furmanchuk A, Patel R, Carrell DS, Deng Y, Walton N, Satterfield BA, Kullo IJ, Dikilitas O, Smith JC, Peterson JF, Shang N, Kiryluk K, Ni Y, Li Y, Nadkarni GN, Rosenthal EA, Walunas TL, Williams MS, Karlson EW, Linder JE, Luo Y, Weng C, Wei W. Pacheco JA, et al. Among authors: mentch f. Sci Rep. 2023 Feb 3;13(1):1971. doi: 10.1038/s41598-023-27481-y. Sci Rep. 2023. PMID: 36737471 Free PMC article.
Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders.
Glessner JT, Khan ME, Chang X, Liu Y, Otieno FG, Lemma M, Slaby I, Hain H, Mentch F, Li J, Kao C, Sleiman PMA, March ME, Connolly J, Hakonarson H. Glessner JT, et al. Among authors: mentch f. J Neurodev Disord. 2023 Apr 29;15(1):14. doi: 10.1186/s11689-023-09483-z. J Neurodev Disord. 2023. PMID: 37120522 Free PMC article.
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: mentch f. Nat Commun. 2020 Jan 14;11(1):255. doi: 10.1038/s41467-019-13624-1. Nat Commun. 2020. PMID: 31937769 Free PMC article.
Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
Li YR, Li J, Zhao SD, Bradfield JP, Mentch FD, Maggadottir SM, Hou C, Abrams DJ, Chang D, Gao F, Guo Y, Wei Z, Connolly JJ, Cardinale CJ, Bakay M, Glessner JT, Li D, Kao C, Thomas KA, Qiu H, Chiavacci RM, Kim CE, Wang F, Snyder J, Richie MD, Flatø B, Førre Ø, Denson LA, Thompson SD, Becker ML, Guthery SL, Latiano A, Perez E, Resnick E, Russell RK, Wilson DC, Silverberg MS, Annese V, Lie BA, Punaro M, Dubinsky MC, Monos DS, Strisciuglio C, Staiano A, Miele E, Kugathasan S, Ellis JA, Munro JE, Sullivan KE, Wise CA, Chapel H, Cunningham-Rundles C, Grant SF, Orange JS, Sleiman PM, Behrens EM, Griffiths AM, Satsangi J, Finkel TH, Keinan A, Prak ET, Polychronakos C, Baldassano RN, Li H, Keating BJ, Hakonarson H. Li YR, et al. Among authors: mentch fd. Nat Med. 2015 Sep;21(9):1018-27. doi: 10.1038/nm.3933. Epub 2015 Aug 24. Nat Med. 2015. PMID: 26301688 Free PMC article.
Rare variants at 16p11.2 are associated with common variable immunodeficiency.
Maggadottir SM, Li J, Glessner JT, Li YR, Wei Z, Chang X, Mentch FD, Thomas KA, Kim CE, Zhao Y, Hou C, Wang F, Jørgensen SF, Perez EE, Sullivan KE, Orange JS, Karlsen TH, Chapel H, Cunningham-Rundles C, Hakonarson H. Maggadottir SM, et al. Among authors: mentch fd. J Allergy Clin Immunol. 2015 Jun;135(6):1569-77. doi: 10.1016/j.jaci.2014.12.1939. Epub 2015 Feb 10. J Allergy Clin Immunol. 2015. PMID: 25678086 Free PMC article.
The psychosis spectrum in a young U.S. community sample: findings from the Philadelphia Neurodevelopmental Cohort.
Calkins ME, Moore TM, Merikangas KR, Burstein M, Satterthwaite TD, Bilker WB, Ruparel K, Chiavacci R, Wolf DH, Mentch F, Qiu H, Connolly JJ, Sleiman PA, Hakonarson H, Gur RC, Gur RE. Calkins ME, et al. Among authors: mentch f. World Psychiatry. 2014 Oct;13(3):296-305. doi: 10.1002/wps.20152. World Psychiatry. 2014. PMID: 25273303 Free PMC article.
Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy.
Li J, Fung I, Glessner JT, Pandey R, Wei Z, Bakay M, Mentch FD, Pellegrino R, Wang T, Kim C, Hou C, Wang F, Chiavacci RM, Thomas KA, Spergel JM, Hakonarson H, Sleiman PM. Li J, et al. Among authors: mentch fd. J Immunol. 2015 Aug 15;195(4):1599-607. doi: 10.4049/jimmunol.1402310. Epub 2015 Jul 17. J Immunol. 2015. PMID: 26188062
Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk.
Chang X, Zhao Y, Hou C, Glessner J, McDaniel L, Diamond MA, Thomas K, Li J, Wei Z, Liu Y, Guo Y, Mentch FD, Qiu H, Kim C, Evans P, Vaksman Z, Diskin SJ, Attiyeh EF, Sleiman P, Maris JM, Hakonarson H. Chang X, et al. Among authors: mentch fd. Nat Commun. 2017 Sep 18;8(1):569. doi: 10.1038/s41467-017-00408-8. Nat Commun. 2017. PMID: 28924153 Free PMC article.
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
International Multiple Sclerosis Genetics Consortium; Wellcome Trust Case Control Consortium 2; Sawcer S, Hellenthal G, Pirinen M, Spencer CC, Patsopoulos NA, Moutsianas L, Dilthey A, Su Z, Freeman C, Hunt SE, Edkins S, Gray E, Booth DR, Potter SC, Goris A, Band G, Oturai AB, Strange A, Saarela J, Bellenguez C, Fontaine B, Gillman M, Hemmer B, Gwilliam R, Zipp F, Jayakumar A, Martin R, Leslie S, Hawkins S, Giannoulatou E, D'alfonso S, Blackburn H, Martinelli Boneschi F, Liddle J, Harbo HF, Perez ML, Spurkland A, Waller MJ, Mycko MP, Ricketts M, Comabella M, Hammond N, Kockum I, McCann OT, Ban M, Whittaker P, Kemppinen A, Weston P, Hawkins C, Widaa S, Zajicek J, Dronov S, Robertson N, Bumpstead SJ, Barcellos LF, Ravindrarajah R, Abraham R, Alfredsson L, Ardlie K, Aubin C, Baker A, Baker K, Baranzini SE, Bergamaschi L, Bergamaschi R, Bernstein A, Berthele A, Boggild M, Bradfield JP, Brassat D, Broadley SA, Buck D, Butzkueven H, Capra R, Carroll WM, Cavalla P, Celius EG, Cepok S, Chiavacci R, Clerget-Darpoux F, Clysters K, Comi G, Cossburn M, Cournu-Rebeix I, Cox MB, Cozen W, Cree BA, Cross AH, Cusi D, Daly MJ, Davis E, de Bakker PI, Debouverie M, D'hooghe MB, Dixon K, Dobosi R, Dubo… See abstract for full author list ➔ International Multiple Sclerosis Genetics Consortium, et al. Among authors: mentch f. Nature. 2011 Aug 10;476(7359):214-9. doi: 10.1038/nature10251. Nature. 2011. PMID: 21833088 Free PMC article.
119 results