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2021
Drzewiecki, K. et al. GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension. J Exp Med 218, (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).
Daniloski, Z. et al. Identification of Required Host Factors for SARS-CoV-2 Infection in Human Cells. Cell 184, 92-105.e16 (2021).
Novelli, G. et al. Inhibition of HECT E3 ligases as potential therapy for COVID-19. Cell Death Dis 12, 310 (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).
Kour, S. et al. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun 12, 2558 (2021).
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).
Chai, G. et al. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron 109, 241-256.e9 (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).
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).
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).
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).
Vazquez, S. E. et al. Neutralizing Autoantibodies to Type I Interferons in COVID-19 Convalescent Donor Plasma. J Clin Immunol (2021). doi:10.1007/s10875-021-01060-0
Nistala, H. et al. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Hum Mol Genet 29, 3516-3531 (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).
Bryen, S. J. et al. Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy. Eur J Hum Genet 29, 61-66 (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).
Chen, N. et al. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. Am J Hum Genet 108, 337-345 (2021).
Chen, N. et al. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. Am J Hum Genet 108, 337-345 (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).
Ilumäe, A. - M. et al. Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes. Eur J Hum Genet (2021). doi:10.1038/s41431-021-00897-8
Ilumäe, A. - M. et al. Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes. Eur J Hum Genet (2021). doi:10.1038/s41431-021-00897-8
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).
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).
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).
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).
Wenric, S. et al. Rapid response to the alpha-1 adrenergic agent phenylephrine in the perioperative period is impacted by genomics and ancestry. Pharmacogenomics J 21, 174-189 (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).
Onodi, F. et al. SARS-CoV-2 induces human plasmacytoid pre-dendritic cell diversification via UNC93B and IRAK4. bioRxiv (2021). doi:10.1101/2020.07.10.197343
Onodi, F. et al. SARS-CoV-2 induces human plasmacytoid predendritic cell diversification via UNC93B and IRAK4. J Exp Med 218, (2021).
Radio, F. Clementina et al. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet 108, 502-516 (2021).
Radio, F. Clementina et al. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet 108, 502-516 (2021).
Radio, F. Clementina et al. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet 108, 502-516 (2021).
Radio, F. Clementina et al. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet 108, 502-516 (2021).
Radio, F. Clementina et al. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet 108, 502-516 (2021).

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