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Page 1
Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.
Flynn EK, Kamat A, Lach FP, Donovan FX, Kimble DC, Narisu N, Sanborn E, Boulad F, Davies SM, Gillio AP 3rd, Harris RE, MacMillan ML, Wagner JE, Smogorzewska A, Auerbach AD, Ostrander EA, Chandrasekharappa SC. Flynn EK, et al. Among authors: narisu n. Hum Mutat. 2014 Nov;35(11):1342-53. doi: 10.1002/humu.22680. Hum Mutat. 2014. PMID: 25168418 Free PMC article.
Population-scale skeletal muscle single-nucleus multi-omic profiling reveals extensive context specific genetic regulation.
Varshney A, Manickam N, Orchard P, Tovar A, Ventresca C, Zhang Z, Feng F, Mears J, Erdos MR, Narisu N, Nishino K, Rai V, Stringham HM, Jackson AU, Tamsen T, Gao C, Yang M, Koues OI, Welch JD, Burant CF, Williams LK, Jenkinson C, DeFronzo RA, Norton L, Saramies J, Lakka TA, Laakso M, Tuomilehto J, Mohlke KL, Kitzman JO, Koistinen HA, Liu J, Boehnke M, Collins FS, Scott LJ, Parker SCJ. Varshney A, et al. Among authors: narisu n. bioRxiv [Preprint]. 2024 Dec 17:2023.12.15.571696. doi: 10.1101/2023.12.15.571696. bioRxiv. 2024. PMID: 38168419 Free PMC article. Preprint.
Scalable Hypothalamic Arcuate Neuron Differentiation from Human Pluripotent Stem Cells Suitable for Modeling Metabolic and Reproductive Disorders.
Jovanovic VM, Narisu N, Bonnycastle LL, Tharakan R, Mesch KT, Glover HJ, Yan T, Sinha N, Sen C, Castellano D, Yang S, Blivis D, Ryu S, Bennett DF, Rosales-Soto G, Inman J, Ormanoglu P, LeClair CA, Xia M, Schneider M, Hernandez-Ochoa EO, Erdos MR, Simeonov A, Chen S, Collins FS, Doege CA, Tristan CA. Jovanovic VM, et al. Among authors: narisu n. bioRxiv [Preprint]. 2024 Sep 20:2024.06.27.601062. doi: 10.1101/2024.06.27.601062. bioRxiv. 2024. PMID: 39005353 Free PMC article. Preprint.
Functional interrogation of twenty type 2 diabetes-associated genes using isogenic hESC-derived β-like cells.
Xue D, Narisu N, Taylor DL, Zhang M, Grenko C, Taylor HJ, Yan T, Tang X, Sinha N, Zhu J, Vandana JJ, Chong ACN, Lee A, Mansell EC, Swift AJ, Erdos MR, Zhou T, Bonnycastle LL, Zhong A, Chen S, Collins FS. Xue D, et al. Among authors: narisu n. bioRxiv [Preprint]. 2023 May 8:2023.05.07.539774. doi: 10.1101/2023.05.07.539774. bioRxiv. 2023. Update in: Cell Metab. 2023 Nov 7;35(11):1897-1914.e11. doi: 10.1016/j.cmet.2023.09.013 PMID: 37214922 Free PMC article. Updated. Preprint.
Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.
Service SK, Teslovich TM, Fuchsberger C, Ramensky V, Yajnik P, Koboldt DC, Larson DE, Zhang Q, Lin L, Welch R, Ding L, McLellan MD, O'Laughlin M, Fronick C, Fulton LL, Magrini V, Swift A, Elliott P, Jarvelin MR, Kaakinen M, McCarthy MI, Peltonen L, Pouta A, Bonnycastle LL, Collins FS, Narisu N, Stringham HM, Tuomilehto J, Ripatti S, Fulton RS, Sabatti C, Wilson RK, Boehnke M, Freimer NB. Service SK, et al. Among authors: narisu n. PLoS Genet. 2014 Jan 30;10(1):e1004147. doi: 10.1371/journal.pgen.1004147. eCollection 2014 Jan. PLoS Genet. 2014. PMID: 24497850 Free PMC article.
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
Berndt SI, Gustafsson S, Mägi R, Ganna A, Wheeler E, Feitosa MF, Justice AE, Monda KL, Croteau-Chonka DC, Day FR, Esko T, Fall T, Ferreira T, Gentilini D, Jackson AU, Luan J, Randall JC, Vedantam S, Willer CJ, Winkler TW, Wood AR, Workalemahu T, Hu YJ, Lee SH, Liang L, Lin DY, Min JL, Neale BM, Thorleifsson G, Yang J, Albrecht E, Amin N, Bragg-Gresham JL, Cadby G, den Heijer M, Eklund N, Fischer K, Goel A, Hottenga JJ, Huffman JE, Jarick I, Johansson Å, Johnson T, Kanoni S, Kleber ME, König IR, Kristiansson K, Kutalik Z, Lamina C, Lecoeur C, Li G, Mangino M, McArdle WL, Medina-Gomez C, Müller-Nurasyid M, Ngwa JS, Nolte IM, Paternoster L, Pechlivanis S, Perola M, Peters MJ, Preuss M, Rose LM, Shi J, Shungin D, Smith AV, Strawbridge RJ, Surakka I, Teumer A, Trip MD, Tyrer J, Van Vliet-Ostaptchouk JV, Vandenput L, Waite LL, Zhao JH, Absher D, Asselbergs FW, Atalay M, Attwood AP, Balmforth AJ, Basart H, Beilby J, Bonnycastle LL, Brambilla P, Bruinenberg M, Campbell H, Chasman DI, Chines PS, Collins FS, Connell JM, Cookson WO, de Faire U, de Vegt F, Dei M, Dimitriou M, Edkins S, Estrada K, Evans DM, Farrall M, Ferrario MM, Ferrières J, Franke L, Frau F, Gejman PV, Grallert H, Grönberg … See abstract for full author list ➔ Berndt SI, et al. Among authors: narisu n. Nat Genet. 2013 May;45(5):501-12. doi: 10.1038/ng.2606. Epub 2013 Apr 7. Nat Genet. 2013. PMID: 23563607 Free PMC article.
Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes.
Ng MC, Shriner D, Chen BH, Li J, Chen WM, Guo X, Liu J, Bielinski SJ, Yanek LR, Nalls MA, Comeau ME, Rasmussen-Torvik LJ, Jensen RA, Evans DS, Sun YV, An P, Patel SR, Lu Y, Long J, Armstrong LL, Wagenknecht L, Yang L, Snively BM, Palmer ND, Mudgal P, Langefeld CD, Keene KL, Freedman BI, Mychaleckyj JC, Nayak U, Raffel LJ, Goodarzi MO, Chen YD, Taylor HA Jr, Correa A, Sims M, Couper D, Pankow JS, Boerwinkle E, Adeyemo A, Doumatey A, Chen G, Mathias RA, Vaidya D, Singleton AB, Zonderman AB, Igo RP Jr, Sedor JR; FIND Consortium; Kabagambe EK, Siscovick DS, McKnight B, Rice K, Liu Y, Hsueh WC, Zhao W, Bielak LF, Kraja A, Province MA, Bottinger EP, Gottesman O, Cai Q, Zheng W, Blot WJ, Lowe WL, Pacheco JA, Crawford DC; eMERGE Consortium; DIAGRAM Consortium; Grundberg E; MuTHER Consortium; Rich SS, Hayes MG, Shu XO, Loos RJ, Borecki IB, Peyser PA, Cummings SR, Psaty BM, Fornage M, Iyengar SK, Evans MK, Becker DM, Kao WH, Wilson JG, Rotter JI, Sale MM, Liu S, Rotimi CN, Bowden DW; MEta-analysis of type 2 DIabetes in African Americans Consortium. Ng MC, et al. PLoS Genet. 2014 Aug 7;10(8):e1004517. doi: 10.1371/journal.pgen.1004517. eCollection 2014 Aug. PLoS Genet. 2014. PMID: 25102180 Free PMC article.
Defining the role of common variation in the genomic and biological architecture of adult human height.
Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, Chu AY, Estrada K, Luan J, Kutalik Z, Amin N, Buchkovich ML, Croteau-Chonka DC, Day FR, Duan Y, Fall T, Fehrmann R, Ferreira T, Jackson AU, Karjalainen J, Lo KS, Locke AE, Mägi R, Mihailov E, Porcu E, Randall JC, Scherag A, Vinkhuyzen AA, Westra HJ, Winkler TW, Workalemahu T, Zhao JH, Absher D, Albrecht E, Anderson D, Baron J, Beekman M, Demirkan A, Ehret GB, Feenstra B, Feitosa MF, Fischer K, Fraser RM, Goel A, Gong J, Justice AE, Kanoni S, Kleber ME, Kristiansson K, Lim U, Lotay V, Lui JC, Mangino M, Mateo Leach I, Medina-Gomez C, Nalls MA, Nyholt DR, Palmer CD, Pasko D, Pechlivanis S, Prokopenko I, Ried JS, Ripke S, Shungin D, Stancáková A, Strawbridge RJ, Sung YJ, Tanaka T, Teumer A, Trompet S, van der Laan SW, van Setten J, Van Vliet-Ostaptchouk JV, Wang Z, Yengo L, Zhang W, Afzal U, Arnlöv J, Arscott GM, Bandinelli S, Barrett A, Bellis C, Bennett AJ, Berne C, Blüher M, Bolton JL, Böttcher Y, Boyd HA, Bruinenberg M, Buckley BM, Buyske S, Caspersen IH, Chines PS, Clarke R, Claudi-Boehm S, Cooper M, Daw EW, De Jong PA, Deelen J, Delgado G, Denny JC, Dhonukshe-Rutten R, Dimitriou M, Doney AS, Dörr M, Eklund N, Eury E, F… See abstract for full author list ➔ Wood AR, et al. Among authors: narisu n. Nat Genet. 2014 Nov;46(11):1173-86. doi: 10.1038/ng.3097. Epub 2014 Oct 5. Nat Genet. 2014. PMID: 25282103 Free PMC article.
The genome of a Mongolian individual reveals the genetic imprints of Mongolians on modern human populations.
Bai H, Guo X, Zhang D, Narisu N, Bu J, Jirimutu J, Liang F, Zhao X, Xing Y, Wang D, Li T, Zhang Y, Guan B, Yang X, Yang Z, Shuangshan S, Su Z, Wu H, Li W, Chen M, Zhu S, Bayinnamula B, Chang Y, Gao Y, Lan T, Suyalatu S, Huang H, Su Y, Chen Y, Li W, Yang X, Feng Q, Wang J, Yang H, Wang J, Wu Q, Yin Y, Zhou H. Bai H, et al. Among authors: narisu n. Genome Biol Evol. 2014 Nov 5;6(12):3122-36. doi: 10.1093/gbe/evu242. Genome Biol Evol. 2014. PMID: 25377941 Free PMC article.
134 results