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Shen, F. & Kidd, J. M. Rapid, Paralog-Sensitive CNV Analysis of 2457 Human Genomes Using QuicK-mer2. Genes (Basel) 11, (2020).
Musfee, F. I. et al. Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease. Mol Genet Genomic Med 8, e1406 (2020).
Batzir, N. Assia et al. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat 41, 641-654 (2020).
Gunning, A. C. et al. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. Am J Hum Genet 106, 272-279 (2020).
Ghosh, S. Georges et al. Recurrent homozygous damaging mutation in , encoding a protein disulfide isomerase, in four families with microlissencephaly. J Med Genet 57, 274-282 (2020).
Whitman, M. C. et al. Recurrent Rare Copy Number Variants Increase Risk for Esotropia. Invest Ophthalmol Vis Sci 61, 22 (2020).
Bryen, S. J. et al. Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Hum Mutat 41, 403-411 (2020).
Coulter, M. E. et al. Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. Genet Med 22, 1040-1050 (2020).
Yaramis, A. et al. -related autosomal recessive encephalopathy in 2 Turkish children. Neurol Genet 6, e392 (2020).
Orange, D. E. et al. RNA Identification of PRIME Cells Predicting Rheumatoid Arthritis Flares. N Engl J Med 383, 218-228 (2020).