Kurtelius A, Kurki MI, Fraunberg M von UZ, et al. Saccular Intracranial Aneurysms in Children When Both Parents Are Sporadic or Familial Carriers of Saccular Intracranial Aneurysms. Neuroepidemiology. 2019;52(1-2):47-54. doi:10.1159/000493856
Wilch ES, Morton CC. Historical and Clinical Perspectives on Chromosomal Translocations. Adv Exp Med Biol. 2018;1044:1-14. doi:10.1007/978-981-13-0593-1_1
Luukkonen TM, Mehrjouy MM, Pöyhönen M, et al. Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes. Mol Genet Genomic Med. 2018;6(1):56-68. doi:10.1002/mgg3.346
Lessel D, Gehbauer C, Bramswig NC, et al. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain. 2018;141(8):2299-2311. doi:10.1093/brain/awy173
Johnson K, Bertoli M, Phillips L, et al. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skelet Muscle. 2018;8(1):23. doi:10.1186/s13395-018-0170-1
Bolze A, Boisson B, Bosch B, et al. Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exons. Proc Natl Acad Sci U S A. 2018;115(34):E8007-E8016. doi:10.1073/pnas.1805437115
Luukkonen TM, Kiiski V, Ahola M, et al. The Value of FLG Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients. Acta Derm Venereol. 2017;97(4):456-463. doi:10.2340/00015555-2578
Rusu V, Hoch E, Mercader JM, et al. Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms. Cell. 2017;170(1):199-212.e20. doi:10.1016/j.cell.2017.06.011
Khera AV, Won HH, Peloso GM, et al. Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease. JAMA. 2017;317(9):937-946. doi:10.1001/jama.2017.0972
Cassa CA, Weghorn D, Balick DJ, et al. Estimating the selective effects of heterozygous protein-truncating variants from human exome data. Nat Genet. 2017;49(5):806-810. doi:10.1038/ng.3831