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Year Number of Results
2011 1
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2015 1
2016 2
2017 2
2018 1
2019 8
2020 7
2021 7
2022 2
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2024 4

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30 results

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Page 1
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.
Akbari P, Sosina OA, Bovijn J, Landheer K, Nielsen JB, Kim M, Aykul S, De T, Haas ME, Hindy G, Lin N, Dinsmore IR, Luo JZ, Hectors S, Geraghty B, Germino M, Panagis L, Parasoglou P, Walls JR, Halasz G, Atwal GS; Regeneron Genetics Center; DiscovEHR Collaboration; Jones M, LeBlanc MG, Still CD, Carey DJ, Giontella A, Orho-Melander M, Berumen J, Kuri-Morales P, Alegre-Díaz J, Torres JM, Emberson JR, Collins R, Rader DJ, Zambrowicz B, Murphy AJ, Balasubramanian S, Overton JD, Reid JG, Shuldiner AR, Cantor M, Abecasis GR, Ferreira MAR, Sleeman MW, Gusarova V, Altarejos J, Harris C, Economides AN, Idone V, Karalis K, Della Gatta G, Mirshahi T, Yancopoulos GD, Melander O, Marchini J, Tapia-Conyer R, Locke AE, Baras A, Verweij N, Lotta LA. Akbari P, et al. Among authors: landheer k. Nat Commun. 2022 Aug 23;13(1):4844. doi: 10.1038/s41467-022-32398-7. Nat Commun. 2022. PMID: 35999217 Free PMC article.
A deep catalogue of protein-coding variation in 983,578 individuals.
Sun KY, Bai X, Chen S, Bao S, Zhang C, Kapoor M, Backman J, Joseph T, Maxwell E, Mitra G, Gorovits A, Mansfield A, Boutkov B, Gokhale S, Habegger L, Marcketta A, Locke AE, Ganel L, Hawes A, Kessler MD, Sharma D, Staples J, Bovijn J, Gelfman S, Di Gioia A, Rajagopal VM, Lopez A, Varela JR, Alegre-Díaz J, Berumen J, Tapia-Conyer R, Kuri-Morales P, Torres J, Emberson J, Collins R; Regeneron Genetics Center; RGC-ME Cohort Partners; Cantor M, Thornton T, Kang HM, Overton JD, Shuldiner AR, Cremona ML, Nafde M, Baras A, Abecasis G, Marchini J, Reid JG, Salerno W, Balasubramanian S. Sun KY, et al. Nature. 2024 Jul;631(8021):583-592. doi: 10.1038/s41586-024-07556-0. Epub 2024 May 20. Nature. 2024. PMID: 38768635 Free PMC article.
A large meta-analysis identifies genes associated with anterior uveitis.
Gelfman S, Moscati A, Huergo SM, Wang R, Rajagopal V, Parikshak N, Pounraja VK, Chen E, Leblanc M, Hazlewood R, Freudenberg J, Cooper B, Ligocki AJ, Miller CG, Van Zyl T, Weyne J, Romano C, Sagdullaev B, Melander O, Baras A; Regeneron Genetics Center; Stahl EA, Coppola G. Gelfman S, et al. Nat Commun. 2023 Nov 11;14(1):7300. doi: 10.1038/s41467-023-43036-1. Nat Commun. 2023. PMID: 37949852 Free PMC article.
Diffusion-weighted J-resolved spectroscopy.
Landheer K, Schulte R, Geraghty B, Hanstock C, Chen AP, Cunningham CH, Graham SJ. Landheer K, et al. Magn Reson Med. 2017 Oct;78(4):1235-1245. doi: 10.1002/mrm.26514. Epub 2016 Oct 31. Magn Reson Med. 2017. PMID: 27797114 Free article.
Rare and Common Genetic Variation Underlying Atrial Fibrillation Risk.
Vad OB, Monfort LM, Paludan-Müller C, Kahnert K, Diederichsen SZ, Andreasen L, Lotta LA, Nielsen JB, Lundby A, Svendsen JH, Olesen MS; Geisinger MyCode Community Health Initiative and the Regeneron Genetics Center (RGC) Research Team. Vad OB, et al. JAMA Cardiol. 2024 Aug 1;9(8):732-740. doi: 10.1001/jamacardio.2024.1528. JAMA Cardiol. 2024. PMID: 38922602 Free PMC article.
Frequency drift in MR spectroscopy at 3T.
Hui SCN, Mikkelsen M, Zöllner HJ, Ahluwalia V, Alcauter S, Baltusis L, Barany DA, Barlow LR, Becker R, Berman JI, Berrington A, Bhattacharyya PK, Blicher JU, Bogner W, Brown MS, Calhoun VD, Castillo R, Cecil KM, Choi YB, Chu WCW, Clarke WT, Craven AR, Cuypers K, Dacko M, de la Fuente-Sandoval C, Desmond P, Domagalik A, Dumont J, Duncan NW, Dydak U, Dyke K, Edmondson DA, Ende G, Ersland L, Evans CJ, Fermin ASR, Ferretti A, Fillmer A, Gong T, Greenhouse I, Grist JT, Gu M, Harris AD, Hat K, Heba S, Heckova E, Hegarty JP 2nd, Heise KF, Honda S, Jacobson A, Jansen JFA, Jenkins CW, Johnston SJ, Juchem C, Kangarlu A, Kerr AB, Landheer K, Lange T, Lee P, Levendovszky SR, Limperopoulos C, Liu F, Lloyd W, Lythgoe DJ, Machizawa MG, MacMillan EL, Maddock RJ, Manzhurtsev AV, Martinez-Gudino ML, Miller JJ, Mirzakhanian H, Moreno-Ortega M, Mullins PG, Nakajima S, Near J, Noeske R, Nordhøy W, Oeltzschner G, Osorio-Duran R, Otaduy MCG, Pasaye EH, Peeters R, Peltier SJ, Pilatus U, Polomac N, Porges EC, Pradhan S, Prisciandaro JJ, Puts NA, Rae CD, Reyes-Madrigal F, Roberts TPL, Robertson CE, Rosenberg JT, Rotaru DG, O'Gorman Tuura RL, Saleh MG, Sandberg K, Sangill R, Schembri K, Schrantee A, … See abstract for full author list ➔ Hui SCN, et al. Among authors: landheer k. Neuroimage. 2021 Nov 1;241:118430. doi: 10.1016/j.neuroimage.2021.118430. Epub 2021 Jul 24. Neuroimage. 2021. PMID: 34314848 Free PMC article.
NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke.
Rodriguez-Flores JL, Khalid S, Parikshak N, Rasheed A, Ye B, Kapoor M, Backman J, Sepehrband F, Gioia SAD, Gelfman S, De T, Banerjee N, Sharma D, Martinez H, Castaneda S, D'Ambrosio D, Zhang XA, Xun P, Tsai E, Tsai IC; Regeneron Genetics Center; Khan MZ, Jahanzaib M, Mian MR, Liaqat MB, Mahmood K, Salam TU, Hussain M, Iqbal J, Aslam F, Cantor MN, Tzoneva G, Overton J, Marchini J, Reid JG, Baras A, Verweij N, Lotta LA, Coppola G, Karalis K, Economides A, Fazio S, Liedtke W, Danesh J, Kamal A, Frossard P, Coleman T, Shuldiner AR, Saleheen D. Rodriguez-Flores JL, et al. Nat Commun. 2024 Sep 13;15(1):8029. doi: 10.1038/s41467-024-51819-3. Nat Commun. 2024. PMID: 39271666 Free PMC article.
30 results