1.
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.
1.
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.
1.
Li H, Bloom JM, Farjoun Y, et al. A synthetic-diploid benchmark for accurate variant-calling evaluation. Nat Methods. 2018;15(8):595-597. doi:10.1038/s41592-018-0054-7.
1.
Van den Bergh PYK, Sznajer Y, Van Parys V, et al. A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy. Neuromuscul Disord. 2017;27(11):1043-1046. doi:10.1016/j.nmd.2017.07.006.
1.
Belbin GM, Odgis J, Sorokin EP, et al. Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system. Elife. 2017;6. doi:10.7554/eLife.25060.
1.
Sabeti PC, Reich DE, Higgins JM, et al. Detecting recent positive selection in the human genome from haplotype structure. Nature. 2002;419(6909):832-7. doi:10.1038/nature01140.
1.
Kurki MI, Saarentaus E, Pietilainen O, et al. Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland. Nat Commun. 2019;10(1):410. doi:10.1038/s41467-018-08262-y.
1.
Shapiro RS, Chavez A, Porter CBM, et al. A CRISPR-Cas9-based gene drive platform for genetic interaction analysis in Candida albicans. Nat Microbiol. 2018;3(1):73-82. doi:10.1038/s41564-017-0043-0.
1.
Konersman CG, Freyermuth F, Winder TL, Lawlor MW, Lagier-Tourenne C, Patel SB. Novel autosomal dominant TNNT1 mutation causing nemaline myopathy. Mol Genet Genomic Med. 2017;5(6):678-691. doi:10.1002/mgg3.325.
1.
Hu R, Morley MP, Brandimarto J, et al. Genetic Reduction in Left Ventricular Protein Kinase C-α and Adverse Ventricular Remodeling in Human Subjects. Circ Genom Precis Med. 2018;11(3):e001901. doi:10.1161/CIRCGEN.117.001901.