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Phevor integrates phenotype, gene function, and disease information with personal genomic data for improved power to identify disease-causing alleles. Phevor works by combining knowledge resident in multiple biomedical ontologies with the outputs of variant-prioritization tools. It does so by using an algorithm that propagates information across and between(More)
Preterm birth (PTB), defined as birth prior to a gestational age (GA) of 37 completed weeks, affects more than 10 % of births worldwide. PTB is the leading cause of neonatal mortality and is associated with a broad spectrum of lifelong morbidity in survivors. The etiology of spontaneous PTB (SPTB) is complex and has an important genetic component. Previous(More)
Patients with mutations of the recombination-activating genes (RAG) present with diverse clinical phenotypes, including severe combined immune deficiency (SCID), autoimmunity, and inflammation. However, the incidence and extent of immune dysregulation in RAG-dependent immunodeficiency have not been studied in detail. Here, we have demonstrated that patients(More)
The use of HLA-identical hematopoietic stem cell transplantation (HSCT) demonstrates overall survival rates greater than 75 % for T-B-NK+ severe combined immunodeficiency secondary to pathogenic mutation of recombinase activating genes 1 and 2 (RAG1/2). Limited data exist regarding the use of HSCT in patients with hypomorphic RAG variants marked by greater(More)
T he signal transducer and activator of transcription 3 (STAT3) is a cytoplasmic protein that, on appropriate sig-naling, translocates to the nucleus and binds DNA response elements of target genes. 1 As a result, STAT3 mediates the transcription of key mediators involved in mitogenesis, cell survival, apoptosis, cell cycle regulation, angiogenesis, and(More)
T he signal transducer and activator of transcription 3 (STAT3) is a cytoplasmic protein that, on appropriate sig-naling, translocates to the nucleus and binds DNA response elements of target genes. 1 As a result, STAT3 mediates the transcription of key mediators involved in mitogenesis, cell survival, apoptosis, cell cycle regulation, angiogenesis, and(More)
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