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2021
Hildebrandt, C. C. et al. Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome. Am J Med Genet A (2021). doi:10.1002/ajmg.a.62194
Klämbt, V. et al. Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches. Kidney Int Rep 6, 460-471 (2021).
Klämbt, V. et al. Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches. Kidney Int Rep 6, 460-471 (2021).
Kasela, S. et al. Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium. Genome Med 13, 66 (2021).
Kasela, S. et al. Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium. Genome Med 13, 66 (2021).
Kasela, S. et al. Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium. Genome Med 13, 66 (2021).
Dron, J. S. et al. Genetic Predictor to Identify Individuals With High Lipoprotein(a) Concentrations. Circ Genom Precis Med 14, e003182 (2021).
Wei, C. - Y. et al. Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese. NPJ Genom Med 6, 10 (2021).
Hansen, A. W. et al. Germline mutation in : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation. HGG Adv 2, (2021).
Hansen, A. W. et al. Germline mutation in : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation. HGG Adv 2, (2021).
Drzewiecki, K. et al. GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension. J Exp Med 218, (2021).
Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
Dianatpour, M. et al. Identification of homozygous mutations for hearing loss. Gene 778, 145464 (2021).
Daniloski, Z. et al. Identification of Required Host Factors for SARS-CoV-2 Infection in Human Cells. Cell 184, 92-105.e16 (2021).
Delaney, A. et al. Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea. J Clin Endocrinol Metab 106, e1441-e1452 (2021).
van der Wijst, M. G. P. et al. Longitudinal single-cell epitope and RNA-sequencing reveals the immunological impact of type 1 interferon autoantibodies in critical COVID-19. bioRxiv (2021). doi:10.1101/2021.03.09.434529
van der Wijst, M. G. P. et al. Longitudinal single-cell epitope and RNA-sequencing reveals the immunological impact of type 1 interferon autoantibodies in critical COVID-19. bioRxiv (2021). doi:10.1101/2021.03.09.434529
van der Wijst, M. G. P. et al. Longitudinal single-cell epitope and RNA-sequencing reveals the immunological impact of type 1 interferon autoantibodies in critical COVID-19. bioRxiv (2021). doi:10.1101/2021.03.09.434529
Kour, S. et al. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun 12, 2558 (2021).
Meng, L. et al. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol 89, 828-833 (2021).
Meng, L. et al. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol 89, 828-833 (2021).
Meng, L. et al. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol 89, 828-833 (2021).
Meng, L. et al. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol 89, 828-833 (2021).
Meng, L. et al. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol 89, 828-833 (2021).
Meng, L. et al. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol 89, 828-833 (2021).
Çağlayan, A. Okay et al. METAP1 mutation is a novel candidate for autosomal recessive intellectual disability. J Hum Genet 66, 215-218 (2021).
Helman, G. et al. Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10. Hum Mutat 42, 19-24 (2021).
Helman, G. et al. Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10. Hum Mutat 42, 19-24 (2021).
Klämbt, V. et al. Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans. Nephrol Dial Transplant 36, 237-246 (2021).
Saad, A. K. et al. Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. Am J Med Genet A 185, 1288-1293 (2021).
Jurgens, J. A. et al. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. Eur J Hum Genet 29, 816-826 (2021).
Li, D. et al. Pathogenic variants in , a chromatin remodeler, cause a range of syndromic neurodevelopmental features. Sci Adv 7, (2021).
Li, D. et al. Pathogenic variants in , a chromatin remodeler, cause a range of syndromic neurodevelopmental features. Sci Adv 7, (2021).
Li, D. et al. Pathogenic variants in , a chromatin remodeler, cause a range of syndromic neurodevelopmental features. Sci Adv 7, (2021).
Khayat, M. M. et al. Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Hum Mutat 42, 577-591 (2021).
Khayat, M. M. et al. Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Hum Mutat 42, 577-591 (2021).
Oláhová, M. et al. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun 12, 1135 (2021).
Oláhová, M. et al. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun 12, 1135 (2021).
Bastard, P. et al. Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1. J Exp Med 218, (2021).
Bastard, P. et al. Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1. J Exp Med 218, (2021).
Bastard, P. et al. Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1. J Exp Med 218, (2021).
Bastard, P. et al. Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1. J Exp Med 218, (2021).
Ghosh, S. G. et al. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet 29, 271-279 (2021).
Ghosh, S. G. et al. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet 29, 271-279 (2021).
Ghosh, S. G. et al. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet 29, 271-279 (2021).

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