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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
- I. Schanze, J. Bunt, +46 authors L. Richards
- Biology, Medicine
- American journal of human genetics
- 1 November 2018
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 deletions… Expand
Genomic Analysis of Dysembryoplastic Neuroepithelial Tumor Spectrum Reveals a Diversity of Molecular Alterations Dysregulating the MAPK and PI3K/mTOR Pathways.
- L. Surrey, P. Jain, +10 authors M. Santi
- Medicine, Biology
- Journal of neuropathology and experimental…
- 1 December 2019
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 the… Expand
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 expected… Expand
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach
- C. Wu, B. Devkota, +14 authors Mahdi Sarmady
- European Journal of Human Genetics
- 9 January 2019
Clinical exome sequencing (CES) has become the preferred diagnostic platform for complex pediatric disorders with suspected monogenic etiologies. Despite rapid advancements, the major challenge still… Expand
10. Comprehensive genomic characterization of pediatric B-ALL
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 implicated… Expand
Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia–related malignancies
- E. Lalonde, Stefan Rentas, +8 authors Marilyn M Li
- Cold Spring Harbor molecular case studies
- 1 April 2021
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 of… Expand
32. Genetic diagnosis of bone marrow failure syndromes: Strategies, yields, and challenges