Luperchio TR, Applegate CD, Bodamer O, Bjornsson HT. Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life. Mol Genet Genomic Med. 2020;8(2):e1072. doi:10.1002/mgg3.1072
Publications
Liu S, Rao S, Xu Y, et al. Identifying common genome-wide risk genes for major psychiatric traits. Hum Genet. 2020;139(2):185-198. doi:10.1007/s00439-019-02096-4
Lind L, Salihovic S, Ganna A, et al. A Multi-Cohort Metabolomics Analysis Discloses Sphingomyelin (32:1) Levels to be Inversely Related to Incident Ischemic Stroke. J Stroke Cerebrovasc Dis. 2020;29(2):104476. doi:10.1016/j.jstrokecerebrovasdis.2019.104476
Villar-Quiles RN, Catervi F, Cabet E, et al. ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Ann Neurol. 2020;87(2):217-232. doi:10.1002/ana.25660
Lodato MA, Walsh CA. Corrigendum: Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms. Hum Mol Genet. 2020;29(3):527. doi:10.1093/hmg/ddz286
Clarke TL, Tang R, Chakraborty D, et al. Histone Lysine Methylation Dynamics Control DNA Copy-Number Amplification. Cancer Discov. 2020;10(2):306-325. doi:10.1158/2159-8290.CD-19-0463
Brunklaus A, Schorge S, Smith AD, et al. SCN1A variants from bench to bedside-improved clinical prediction from functional characterization. Hum Mutat. 2020;41(2):363-374. doi:10.1002/humu.23943
Mandl KD, Glauser T, Krantz ID, et al. Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genet Med. 2020;22(2):449. doi:10.1038/s41436-019-0711-y
Hawrot J, Imhof S, Wainger BJ. Modeling cell-autonomous motor neuron phenotypes in ALS using iPSCs. Neurobiol Dis. 2020;134:104680. doi:10.1016/j.nbd.2019.104680
Dashti HS, Vetter C, Lane JM, et al. Assessment of Type 2 Diabetes Genetic Risk Modification by Shift Work and Morningness-Eveningness Preference in the UK Biobank. Diabetes. 2020;69(2):259-266. doi:10.2337/db19-0606