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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).
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).
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).
Chai, G. et al. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron 109, 241-256.e9 (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).
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).
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).
Nistala, H. et al. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Hum Mol Genet 29, 3516-3531 (2021).
Nistala, H. et al. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Hum Mol Genet 29, 3516-3531 (2021).
Nistala, H. et al. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Hum Mol Genet 29, 3516-3531 (2021).
Duan, R. et al. A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. Am J Med Genet A (2021). doi:10.1002/ajmg.a.62192
Duan, R. et al. A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. Am J Med Genet A (2021). doi:10.1002/ajmg.a.62192
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).
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
de Prost, N. et al. Plasma Exchange to Rescue Patients with Autoantibodies Against Type I Interferons and Life-Threatening COVID-19 Pneumonia. J Clin Immunol 41, 536-544 (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).
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).
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).
Li, Q. et al. Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis. Kidney Int 99, 1102-1117 (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).
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).
Van De Weghe, J. C. et al. TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes. HGG Adv 2, (2021).
Efthymiou, S. et al. Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A (2021). doi:10.1002/ajmg.a.62221
Efthymiou, S. et al. Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A (2021). doi:10.1002/ajmg.a.62221
Muir, A. M. et al. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med 23, 881-887 (2021).
Muir, A. M. et al. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med 23, 881-887 (2021).

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