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Page 1
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, Varshney A, Lek M, Warburton PE, Van Ryzin C, Lehky TJ, Zalewski C, King KA, Brewer CC, Thurm A, Snow J, Facio FM, Narisu N, Bonnycastle LL, Swift A, Chines PS, Bell JL, Mohan S, Whitman MC, Staffieri SE, Elder JE, Demer JL, Torres A, Rachid E, Al-Haddad C, Boustany RM, Mackey DA, Brady AF, Fenollar-Cortés M, Fradin M, Kleefstra T, Padberg GW, Raskin S, Sato MT, Orkin SH, Parker SCJ, Hadlock TA, Vissers LELM, van Bokhoven H, Jabs EW, Collins FS, Pennacchio LA, Manoli I, Engle EC. Tenney AP, et al. Among authors: parker scj. Nat Genet. 2023 Jul;55(7):1149-1163. doi: 10.1038/s41588-023-01424-9. Epub 2023 Jun 29. Nat Genet. 2023. PMID: 37386251 Free PMC article.
Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci.
Stitzel ML, Sethupathy P, Pearson DS, Chines PS, Song L, Erdos MR, Welch R, Parker SC, Boyle AP, Scott LJ; NISC Comparative Sequencing Program; Margulies EH, Boehnke M, Furey TS, Crawford GE, Collins FS. Stitzel ML, et al. Cell Metab. 2010 Nov 3;12(5):443-55. doi: 10.1016/j.cmet.2010.09.012. Cell Metab. 2010. PMID: 21035756 Free PMC article.
Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants.
Parker SC, Stitzel ML, Taylor DL, Orozco JM, Erdos MR, Akiyama JA, van Bueren KL, Chines PS, Narisu N; NISC Comparative Sequencing Program; Black BL, Visel A, Pennacchio LA, Collins FS; National Institutes of Health Intramural Sequencing Center Comparative Sequencing Program Authors; NISC Comparative Sequencing Program Authors. Parker SC, et al. Proc Natl Acad Sci U S A. 2013 Oct 29;110(44):17921-6. doi: 10.1073/pnas.1317023110. Epub 2013 Oct 14. Proc Natl Acad Sci U S A. 2013. PMID: 24127591 Free PMC article.
Super-enhancers delineate disease-associated regulatory nodes in T cells.
Vahedi G, Kanno Y, Furumoto Y, Jiang K, Parker SC, Erdos MR, Davis SR, Roychoudhuri R, Restifo NP, Gadina M, Tang Z, Ruan Y, Collins FS, Sartorelli V, O'Shea JJ. Vahedi G, et al. Nature. 2015 Apr 23;520(7548):558-62. doi: 10.1038/nature14154. Epub 2015 Feb 16. Nature. 2015. PMID: 25686607 Free PMC article.
The genetic regulatory signature of type 2 diabetes in human skeletal muscle.
Scott LJ, Erdos MR, Huyghe JR, Welch RP, Beck AT, Wolford BN, Chines PS, Didion JP, Narisu N, Stringham HM, Taylor DL, Jackson AU, Vadlamudi S, Bonnycastle LL, Kinnunen L, Saramies J, Sundvall J, Albanus RD, Kiseleva A, Hensley J, Crawford GE, Jiang H, Wen X, Watanabe RM, Lakka TA, Mohlke KL, Laakso M, Tuomilehto J, Koistinen HA, Boehnke M, Collins FS, Parker SC. Scott LJ, et al. Nat Commun. 2016 Jun 29;7:11764. doi: 10.1038/ncomms11764. Nat Commun. 2016. PMID: 27353450 Free PMC article.
The genetic architecture of type 2 diabetes.
Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, Ma C, Fontanillas P, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, Sim X, Blackwell TW, Robertson NR, Rayner NW, Cingolani P, Locke AE, Tajes JF, Highland HM, Dupuis J, Chines PS, Lindgren CM, Hartl C, Jackson AU, Chen H, Huyghe JR, van de Bunt M, Pearson RD, Kumar A, Müller-Nurasyid M, Grarup N, Stringham HM, Gamazon ER, Lee J, Chen Y, Scott RA, Below JE, Chen P, Huang J, Go MJ, Stitzel ML, Pasko D, Parker SCJ, Varga TV, Green T, Beer NL, Day-Williams AG, Ferreira T, Fingerlin T, Horikoshi M, Hu C, Huh I, Ikram MK, Kim BJ, Kim Y, Kim YJ, Kwon MS, Lee J, Lee S, Lin KH, Maxwell TJ, Nagai Y, Wang X, Welch RP, Yoon J, Zhang W, Barzilai N, Voight BF, Han BG, Jenkinson CP, Kuulasmaa T, Kuusisto J, Manning A, Ng MCY, Palmer ND, Balkau B, Stančáková A, Abboud HE, Boeing H, Giedraitis V, Prabhakaran D, Gottesman O, Scott J, Carey J, Kwan P, Grant G, Smith JD, Neale BM, Purcell S, Butterworth AS, Howson JMM, Lee HM, Lu Y, Kwak SH, Zhao W, Danesh J, Lam VKL, Park KS, Saleheen D, So WY, Tam CHT, Afzal U, Aguilar D, Arya R, Aung T, Chan E, Navarro C, Cheng CY, Palli D, Correa A, Curran JE, Rybin D, Farook VS,… See abstract for full author list ➔ Fuchsberger C, et al. Among authors: parker scj. Nature. 2016 Aug 4;536(7614):41-47. doi: 10.1038/nature18642. Epub 2016 Jul 11. Nature. 2016. PMID: 27398621 Free PMC article.
Genetic regulatory signatures underlying islet gene expression and type 2 diabetes.
Varshney A, Scott LJ, Welch RP, Erdos MR, Chines PS, Narisu N, Albanus RD, Orchard P, Wolford BN, Kursawe R, Vadlamudi S, Cannon ME, Didion JP, Hensley J, Kirilusha A; NISC Comparative Sequencing Program; Bonnycastle LL, Taylor DL, Watanabe R, Mohlke KL, Boehnke M, Collins FS, Parker SC, Stitzel ML. Varshney A, et al. Proc Natl Acad Sci U S A. 2017 Feb 28;114(9):2301-2306. doi: 10.1073/pnas.1621192114. Epub 2017 Feb 13. Proc Natl Acad Sci U S A. 2017. PMID: 28193859 Free PMC article.
A Type 2 Diabetes-Associated Functional Regulatory Variant in a Pancreatic Islet Enhancer at the ADCY5 Locus.
Roman TS, Cannon ME, Vadlamudi S, Buchkovich ML, Wolford BN, Welch RP, Morken MA, Kwon GJ, Varshney A, Kursawe R, Wu Y, Jackson AU; National Institutes of Health Intramural Sequencing Center (NISC) Comparative Sequencing Program; Erdos MR, Kuusisto J, Laakso M, Scott LJ, Boehnke M, Collins FS, Parker SCJ, Stitzel ML, Mohlke KL. Roman TS, et al. Among authors: parker scj. Diabetes. 2017 Sep;66(9):2521-2530. doi: 10.2337/db17-0464. Epub 2017 Jul 6. Diabetes. 2017. PMID: 28684635 Free PMC article.
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