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2020
Brasó-Vives, M. et al. Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta). PLoS Genet 16, e1008742 (2020).
Vece, T. J. et al. Cytoplasmic "ciliary inclusions" in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia. Pediatr Pulmonol 55, 130-135 (2020).
Schneider, R. et al. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. Am J Hum Genet 107, 1113-1128 (2020).
Li, C. et al. dbMTS: A comprehensive database of putative human microRNA target site SNVs and their functional predictions. Hum Mutat 41, 1123-1130 (2020).
Li, C. et al. dbMTS: A comprehensive database of putative human microRNA target site SNVs and their functional predictions. Hum Mutat 41, 1123-1130 (2020).
Mirzaa, G. M. et al. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med 22, 538-546 (2020).
Mirzaa, G. M. et al. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med 22, 538-546 (2020).
Boskovski, M. T. et al. De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease. Circ Genom Precis Med 13, e002836 (2020).
Boskovski, M. T. et al. De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease. Circ Genom Precis Med 13, e002836 (2020).
Mao, D. et al. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet 106, 570-583 (2020).
Mao, D. et al. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet 106, 570-583 (2020).
Ravell, J. C. et al. Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease. J Clin Invest 130, 507-522 (2020).
Van Bergen, N. J. et al. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain 143, 112-130 (2020).
Van Bergen, N. J. et al. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain 143, 112-130 (2020).
Van Bergen, N. J. et al. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain 143, 112-130 (2020).
Beck, D. B. et al. Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. Am J Hum Genet 106, 234-245 (2020).
Beck, D. B. et al. Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. Am J Hum Genet 106, 234-245 (2020).
Demanelis, K. et al. Determinants of telomere length across human tissues. Science 369, (2020).
Demanelis, K. et al. Determinants of telomere length across human tissues. Science 369, (2020).
Ngo, K. J. et al. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat 41, 487-501 (2020).
Ngo, K. J. et al. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat 41, 487-501 (2020).
Kuhny, M. et al. Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest 130, 4411-4422 (2020).
Béziat, V. et al. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med 217, (2020).
Béziat, V. et al. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med 217, (2020).
Béziat, V. et al. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med 217, (2020).
Latour, B. L. et al. Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. J Clin Invest 130, 4423-4439 (2020).
Latour, B. L. et al. Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. J Clin Invest 130, 4423-4439 (2020).
Niestroj, L. - M. et al. Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. Brain 143, 2106-2118 (2020).
Shuch, B. et al. Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer. Cancer 126, 3657-3666 (2020).
Tan, N. B. et al. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review. Mol Genet Genomic Med 8, e1508 (2020).
Jin, S. Chih et al. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nat Med 26, 1754-1765 (2020).
Jin, S. Chih et al. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nat Med 26, 1754-1765 (2020).
Jin, S. Chih et al. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nat Med 26, 1754-1765 (2020).
Jin, S. Chih et al. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nat Med 26, 1754-1765 (2020).
Dong, W. et al. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia. iScience 23, 101552 (2020).
Dong, W. et al. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia. iScience 23, 101552 (2020).
Dong, W. et al. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia. iScience 23, 101552 (2020).
Dong, W. et al. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia. iScience 23, 101552 (2020).
Dong, W. et al. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia. iScience 23, 101552 (2020).
Dong, W. et al. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia. iScience 23, 101552 (2020).
Dong, W. et al. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia. iScience 23, 101552 (2020).
Dong, W. et al. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia. iScience 23, 101552 (2020).
Islam, F. et al. Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population. Clin Genet 98, 499-506 (2020).
Ding, X. et al. Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family. J Neurointerv Surg 12, 221-226 (2020).
Ding, X. et al. Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family. J Neurointerv Surg 12, 221-226 (2020).
Ding, X. et al. Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family. J Neurointerv Surg 12, 221-226 (2020).
Ding, X. et al. Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family. J Neurointerv Surg 12, 221-226 (2020).
Vogt, G. et al. Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. J Inherit Metab Dis (2020). doi:10.1002/jimd.12341
Vogt, G. et al. Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. J Inherit Metab Dis (2020). doi:10.1002/jimd.12341
Xavier, C. et al. Forensic evaluation of the Asia Pacific ancestry-informative MAPlex assay. Forensic Sci Int Genet 48, 102344 (2020).

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