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Leveraging Base Pair Mammalian Constraint to Understand Genetic Variation and Human Disease.
Sullivan PF, Meadows JRS, Gazal S, Phan BN, Li X, Genereux DP, Dong MX, Bianchi M, Andrews G, Sakthikumar S, Nordin J, Roy A, Christmas MJ, Marinescu VD, Wallerman O, Xue JR, Li Y, Yao S, Sun Q, Szatkiewicz J, Wen J, Huckins LM, Lawler AJ, Keough KC, Zheng Z, Zeng J, Wray NR, Johnson J, Chen J; Zoonomia Consortium; Paten B, Reilly SK, Hughes GM, Weng Z, Pollard KS, Pfenning AR, Forsberg-Nilsson K, Karlsson EK, Lindblad-Toh K. Sullivan PF, et al. Among authors: karlsson ek. bioRxiv [Preprint]. 2023 Mar 10:2023.03.10.531987. doi: 10.1101/2023.03.10.531987. bioRxiv. 2023. PMID: 36945512 Free PMC article. Updated. Preprint.
A simple repeat polymorphism in the MITF-M promoter is a key regulator of white spotting in dogs.
Baranowska Körberg I, Sundström E, Meadows JR, Rosengren Pielberg G, Gustafson U, Hedhammar Å, Karlsson EK, Seddon J, Söderberg A, Vilà C, Zhang X, Åkesson M, Lindblad-Toh K, Andersson G, Andersson L. Baranowska Körberg I, et al. Among authors: karlsson ek. PLoS One. 2014 Aug 12;9(8):e104363. doi: 10.1371/journal.pone.0104363. eCollection 2014. PLoS One. 2014. PMID: 25116146 Free PMC article.
Integrating evolutionary and regulatory information with a multispecies approach implicates genes and pathways in obsessive-compulsive disorder.
Noh HJ, Tang R, Flannick J, O'Dushlaine C, Swofford R, Howrigan D, Genereux DP, Johnson J, van Grootheest G, Grünblatt E, Andersson E, Djurfeldt DR, Patel PD, Koltookian M, M Hultman C, Pato MT, Pato CN, Rasmussen SA, Jenike MA, Hanna GL, Stewart SE, Knowles JA, Ruhrmann S, Grabe HJ, Wagner M, Rück C, Mathews CA, Walitza S, Cath DC, Feng G, Karlsson EK, Lindblad-Toh K. Noh HJ, et al. Among authors: karlsson ek. Nat Commun. 2017 Oct 17;8(1):774. doi: 10.1038/s41467-017-00831-x. Nat Commun. 2017. PMID: 29042551 Free PMC article.
BarkBase: Epigenomic Annotation of Canine Genomes.
Megquier K, Genereux DP, Hekman J, Swofford R, Turner-Maier J, Johnson J, Alonso J, Li X, Morrill K, Anguish LJ, Koltookian M, Logan B, Sharp CR, Ferrer L, Lindblad-Toh K, Meyers-Wallen VN, Hoffman A, Karlsson EK. Megquier K, et al. Among authors: karlsson ek. Genes (Basel). 2019 Jun 7;10(6):433. doi: 10.3390/genes10060433. Genes (Basel). 2019. PMID: 31181663 Free PMC article.
Comparative Genomics Reveals Shared Mutational Landscape in Canine Hemangiosarcoma and Human Angiosarcoma.
Megquier K, Turner-Maier J, Swofford R, Kim JH, Sarver AL, Wang C, Sakthikumar S, Johnson J, Koltookian M, Lewellen M, Scott MC, Schulte AJ, Borst L, Tonomura N, Alfoldi J, Painter C, Thomas R, Karlsson EK, Breen M, Modiano JF, Elvers I, Lindblad-Toh K. Megquier K, et al. Among authors: karlsson ek. Mol Cancer Res. 2019 Dec;17(12):2410-2421. doi: 10.1158/1541-7786.MCR-19-0221. Epub 2019 Sep 30. Mol Cancer Res. 2019. PMID: 31570656 Free PMC article.
102 results