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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
The nuclear factor I (NFI) family of transcription factors play an important role in normal development of multiple organs. Three NFI family members are highly expressed in the brain, and deletionsExpand
Genomic Analysis of Dysembryoplastic Neuroepithelial Tumor Spectrum Reveals a Diversity of Molecular Alterations Dysregulating the MAPK and PI3K/mTOR Pathways.
Dysembryoplastic neuroepithelial tumors (DNT) lacking key diagnostic criteria are challenging to diagnose and sometimes fall into the broader category of mixed neuronal-glial tumors (MNGT) or theExpand
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
Clinical exome sequencing (CES) has a reported diagnostic yield of 20% to 30% for most clinical indications. The ongoing discovery of novel gene-disease and variant-disease associations are expectedExpand
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach
Clinical exome sequencing (CES) has become the preferred diagnostic platform for complex pediatric disorders with suspected monogenic etiologies. Despite rapid advancements, the major challenge stillExpand
Using Machine Learning to Identify True Somatic Variants from Next-Generation Sequencing
We present a machine learning-based method to distinguish artifacts from bona fide Single Nucleotide Variants (SNVs) detected by NGS from tumor specimens. Expand
Computational methods for microRNA and PIWI-interacting RNA gene discovery and functional predictions
Abstract The short, single-stranded non-coding RNA molecules, microRNAs and piRNAs, are known to play a critical role in the regulation of posttranscriptional gene expression and have been implicatedExpand
Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia–related malignancies
Acute megakaryoblastic leukemia (AMKL) is a rare subtype of acute myeloid leukemia but is approximately 500 times more likely to develop in children with Down syndrome (DS) through transformation ofExpand