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Page 1
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
Pilarowski GO, Vernon HJ, Applegate CD, Boukas L, Cho MT, Gurnett CA, Benke PJ, Beaver E, Heeley JM, Medne L, Krantz ID, Azage M, Niyazov D, Henderson LB, Wentzensen IM, Baskin B, Sacoto MJG, Bowman GD, Bjornsson HT. Pilarowski GO, et al. J Med Genet. 2018 Aug;55(8):561-566. doi: 10.1136/jmedgenet-2017-104759. Epub 2017 Sep 2. J Med Genet. 2018. PMID: 28866611 Free PMC article.
Clinical epigenetics: a primer for the practitioner.
Aygun D, Bjornsson HT. Aygun D, et al. Dev Med Child Neurol. 2020 Feb;62(2):192-200. doi: 10.1111/dmcn.14398. Epub 2019 Nov 20. Dev Med Child Neurol. 2020. PMID: 31749156 Free article. Review.
[Playing god - progress in genomic medicine].
Bjornsson HT. Bjornsson HT. Laeknabladid. 2019 Mars;105(3):111. doi: 10.17992/lbl.2019.03.219. Laeknabladid. 2019. PMID: 30806627 Free article. Icelandic. No abstract available.
Recommendations for the integration of genomics into clinical practice.
Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID. Bowdin S, et al. Genet Med. 2016 Nov;18(11):1075-1084. doi: 10.1038/gim.2016.17. Epub 2016 May 12. Genet Med. 2016. PMID: 27171546 Free PMC article. Review.
SMYD5 is a regulator of the mild hypothermia response.
Rafnsdottir S, Jang K, Halldorsdottir ST, Vinod M, Tomasdottir A, Möller K, Halldorsdottir K, Reynisdottir T, Atladottir LH, Allison KE, Ostacolo K, He J, Zhang L, Northington FJ, Magnusdottir E, Chavez-Valdez R, Anderson KJ, Bjornsson HT. Rafnsdottir S, et al. Cell Rep. 2024 Aug 27;43(8):114554. doi: 10.1016/j.celrep.2024.114554. Epub 2024 Jul 30. Cell Rep. 2024. PMID: 39083378 Free PMC article.
21 results