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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: hain h. 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.
Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene.
van Ingen G, Li J, Goedegebure A, Pandey R, Li YR, March ME, Jaddoe VW, Bakay M, Mentch FD, Thomas K, Wei Z, Chang X, Hain HS, Uitterlinden AG, Moll HA, van Duijn CM, Rivadeneira F, Raat H, Baatenburg de Jong RJ, Sleiman PM, van der Schroeff MP, Hakonarson H. van Ingen G, et al. Among authors: hain hs. Nat Commun. 2016 Sep 28;7:12792. doi: 10.1038/ncomms12792. Nat Commun. 2016. PMID: 27677580 Free PMC article.
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium. eMERGE Consortium. Electronic address: agibbs@bcm.edu, et al. Am J Hum Genet. 2019 Sep 5;105(3):588-605. doi: 10.1016/j.ajhg.2019.07.018. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447099 Free PMC article.
Inducible knockout of Clec16a in mice results in sensory neurodegeneration.
Hain HS, Pandey R, Bakay M, Strenkowski BP, Harrington D, Romer M, Motley WW, Li J, Lancaster E, Roth L, Grinspan JB, Scherer SS, Hakonarson H. Hain HS, et al. Sci Rep. 2021 Apr 29;11(1):9319. doi: 10.1038/s41598-021-88895-0. Sci Rep. 2021. PMID: 33927318 Free PMC article.
Neptune: an environment for the delivery of genomic medicine.
Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA; eMERGE Consortium. Eric V, et al. Genet Med. 2021 Oct;23(10):1838-1846. doi: 10.1038/s41436-021-01230-w. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257418 Free PMC article.
44 results