Export 772 results:
Author Title [ Year(Asc)]
Fatehi, F. et al. Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD). Eur J Neurol (2020). doi:10.1111/ene.14402
Villar-Quiles, R. N. et al. ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Ann Neurol 87, 217-232 (2020).
Tan, T. Yang et al. Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. Am J Hum Genet 106, 467-483 (2020).
Chatron, N. et al. Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. Brain 143, 1447-1461 (2020).
Marafi, D. et al. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol 7, 610-627 (2020).
Donkervoort, S. et al. Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. Am J Med Genet A (2020). doi:10.1002/ajmg.a.61765
Shayota, B. J. et al. Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form. Am J Med Genet A (2020). doi:10.1002/ajmg.a.61843
Yuan, B. et al. CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med 22, 1633-1641 (2020).
Stavusis, J. et al. Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity. Neuromuscul Disord 30, 483-491 (2020).
K Wild, T. et al. Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome. Am J Med Genet A (2020). doi:10.1002/ajmg.a.61878
Morton, S. U. et al. Congenital Heart Defects Due to Missense Variants. Circ Genom Precis Med 13, e002843 (2020).
Balaraju, S. et al. Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant. Eur J Hum Genet 28, 373-377 (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).
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).
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).
Anjani, G. et al. Deforming Polyarthritis in a North Indian Family-Clinical Expansion of STING-Associated Vasculopathy with Onset in Infancy (SAVI). J Clin Immunol (2020). doi:10.1007/s10875-020-00872-w
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).
Zhao, S. et al. Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet (2020). doi:10.1136/jmedgenet-2019-106823
Kuhny, M. et al. Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest 130, 4411-4422 (2020).
Woldegebriel, R. et al. Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. Hum Mol Genet 29, 1426-1439 (2020).
Latour, B. L. et al. Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. J Clin Invest 130, 4423-4439 (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).
Islam, F. et al. Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population. Clin Genet (2020). doi:10.1111/cge.13830
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).
Scott, H. A. et al. Expanding the phenotypic spectrum in RDH12-associated retinal disease. Cold Spring Harb Mol Case Stud 6, (2020).
Abu-Ghname, A. et al. Extremity anomalies associated with Robinow syndrome. Am J Med Genet A (2020). doi:10.1002/ajmg.a.61884
Gonzaga-Jauregui, C. et al. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet 28, 1243-1264 (2020).
Zhang, L. Xin et al. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med 22, 1338-1347 (2020).
Cowan, J. R. et al. Gain-of-Function Variants in Dilated Cardiomyopathy. Circ Genom Precis Med 13, e002892 (2020).
Sewda, A. et al. Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects. PLoS One 15, e0234357 (2020).
Siggs, O. M. et al. The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort. Clin Genet 97, 764-769 (2020).
Lin, M. et al. Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. Mol Genet Genomic Med 8, e1023 (2020).
Wojcik, M. H., Reimers, R., Poorvu, T. & Agrawal, P. B. Genetic diagnosis in the fetus. J Perinatol 40, 997-1006 (2020).
Lilleväli, H. et al. Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. Mol Genet Genomic Med 8, e1154 (2020).
Kerner, G. et al. A genome-wide case-only test for the detection of digenic inheritance in human exomes. Proc Natl Acad Sci U S A 117, 19367-19375 (2020).
Perrone, E. et al. Gomez-López-Hernández syndrome: A case report with clinical and molecular evaluation and literature review. Am J Med Genet A 182, 1761-1766 (2020).
Cook, S. A. et al. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science 369, 202-207 (2020).
Bustamante-Marin, X. M. et al. Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. J Hum Genet 65, 175-180 (2020).
Burk, C. M. et al. Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation. J Allergy Clin Immunol Pract 8, 1103-1106.e3 (2020).
Ren, X. et al. Increased gene dosages induce congenital cervical vertebral malformations in humans and mice. J Med Genet 57, 371-379 (2020).
Gulati, A., Dahl, N. & Tufro, A. Inherited glomerular diseases in the gilded age of genomic advancements. Pediatr Nephrol 35, 959-968 (2020).
Dhaheri, N. Al et al. KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations. Am J Med Genet A 182, 1664-1672 (2020).
Wang, Q. et al. Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nat Commun 11, 2539 (2020).
Qiao, L. et al. Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes. Genet Med (2020). doi:10.1038/s41436-020-0908-0
Wang, L. et al. Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly. Nat Commun 11, 4038 (2020).
Wenderski, W. et al. Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. Proc Natl Acad Sci U S A 117, 10055-10066 (2020).
Çağlayan, A. Okay et al. METAP1 mutation is a novel candidate for autosomal recessive intellectual disability. J Hum Genet (2020). doi:10.1038/s10038-020-0820-0
Cope, H. et al. Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. Mol Genet Genomic Med e1397 (2020). doi:10.1002/mgg3.1397