Publications
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Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. Blood 137, 493-499 (2021).
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A 185, 119-133 (2021).
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A 185, 119-133 (2021).
Autosomal recessive variants in alter the γ-tubulin ring complex leading to neurodevelopmental disease. iScience 24, 101948 (2021).
Autosomal recessive variants in alter the γ-tubulin ring complex leading to neurodevelopmental disease. iScience 24, 101948 (2021).
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. J Exp Med 218, (2021).
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am J Hum Genet 108, 357-367 (2021).
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am J Hum Genet 108, 357-367 (2021).
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. Am J Hum Genet 108, 749-756 (2021).
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. Hum Genet (2021). doi:10.1007/s00439-021-02268-1
Exome-wide rare variant analysis in familial essential tremor. Parkinsonism Relat Disord 82, 109-116 (2021).
Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. J Exp Med 218, (2021).
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches. Kidney Int Rep 6, 460-471 (2021).
Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium. Genome Med 13, 66 (2021).
GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension. J Exp Med 218, (2021).
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
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun 12, 2558 (2021).
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).
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).
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).
POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun 12, 1135 (2021).
POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun 12, 1135 (2021).
Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1. J Exp Med 218, (2021).
Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1. J Exp Med 218, (2021).
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).
SARS-CoV-2 induces human plasmacytoid predendritic cell diversification via UNC93B and IRAK4. J Exp Med 218, (2021).
SARS-CoV-2 induces human plasmacytoid pre-dendritic cell diversification via UNC93B and IRAK4. bioRxiv (2021). doi:10.1101/2020.07.10.197343
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med 23, 881-887 (2021).
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD). Eur J Neurol 27, 2257-2266 (2020).
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Ann Neurol 87, 217-232 (2020).
Beyond the tubule: pathological variants of , encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease. Am J Physiol Renal Physiol 319, F988-F999 (2020).
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. Am J Hum Genet 106, 467-483 (2020).
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. Brain 143, 1447-1461 (2020).
Combining Imaging and Genetics to Predict Recurrence of Anticoagulation-Associated Intracerebral Hemorrhage. Stroke 51, 2153-2160 (2020).
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. Am J Hum Genet 107, 1113-1128 (2020).
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med 22, 538-546 (2020).
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease. J Clin Invest 130, 507-522 (2020).
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease. J Clin Invest 130, 507-522 (2020).
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. Am J Hum Genet 106, 234-245 (2020).
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest 130, 4411-4422 (2020).
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).
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).
Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS). JBMR Plus 4, e10335 (2020).
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia 61, 249-258 (2020).