David Viskochil
A5039716945- Neurofibromatosis and Schwannoma Cases
- Sarcoma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Meningioma and schwannoma management
- Soft tissue tumor case studies
- Lysosomal Storage Disorders Research
- Bone Tumor Diagnosis and Treatments
- Vascular Malformations Diagnosis and Treatment
- Genomic variations and chromosomal abnormalities
- Chromatin Remodeling and Cancer
- Protein Tyrosine Phosphatases
- Soft tissue tumors and treatment
- Genetics and Neurodevelopmental Disorders
- Glioma Diagnosis and Treatment
- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
- Hedgehog Signaling Pathway Studies
- Glycogen Storage Diseases and Myoclonus
- Fetal and Pediatric Neurological Disorders
- Trypanosoma species research and implications
- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Tuberous Sclerosis Complex Research
- Neuroendocrine Tumor Research Advances
- Gastrointestinal Tumor Research and Treatment
University of Utah
2016-2025
Stanford University
2020-2023
Huntsman Cancer Institute
2014-2023
Palo Alto University
2023
John Wiley & Sons (United States)
2022-2023
Hudson Institute
2022-2023
Liechtenstein Institute
2023
Intermountain Healthcare
2006-2022
Medical Genetics Center
1999-2020
Texas Scottish Rite Hospital for Children
2020
PurposeBy incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) establish Legius syndrome (LGSS).MethodsWe used a multistep process, beginning with Delphi method involving global experts subsequently non-NF experts, patients, foundations/patient advocacy groups.ResultsWe reached consensus on minimal clinical genetic diagnosing differentiating NF1 LGSS, which have phenotypic overlap...
Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 SWN by incorporating recent advances in genetics, ophthalmology, neuropathology, neuroimaging.We used a multistep process, beginning Delphi method involving global disease experts subsequently non-neurofibromatosis clinical experts, patients, foundations/patient advocacy groups.We reached consensus on...
Abstract Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily protein-coding genes 1 . Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify RNA RNU4-2 as a syndromic NDD gene. encodes U4 small nuclear (snRNA), which is critical component U4/U6.U5 tri-snRNP complex major spliceosome 2 We an 18 base pair region mapping two structural elements...
Pfeifter syndrome (PS) is an autosomal dominant skeletal disorder which affects the bones of skull, hands and feet. Previously, we have mapped PS in a subset families to chromosome 8cen by linkage analysis demonstrated common mutation fibroblast growth factor receptor-1 (FGFR1) gene linked families. Here report second locus for on 10q25, present evidence that mutations receptor-2 (FGFR2) 10q25 cause additional familial sporadic cases. Three different point FGFR2, alter same acceptor splice...
Background Developmental dysplasia of the hip (DDH) is a common birth defect and thought to have genetic contributions phenotype. It likely that DDH genetically heterogeneous with environmental modifiers. The Utah Population Database (UPDB) computerized integration pedigrees, vital statistics, medical records representing over 6 million individuals, unique resource providing ability search for familial factors beyond nuclear family, decreasing effect shared environment. purpose this study...
Plexiform neurofibromas (PNs) are benign peripheral nerve sheath tumors that arise in one-third of individuals with neurofibromatosis type 1 (NF1). They may cause significant disfigurement, compression vital structures, neurologic dysfunction, and/or pain. Currently, the only effective management strategy is surgical resection. Converging evidence has demonstrated NF1 tumor suppressor protein, neurofibromin, negatively regulates activity mammalian Target Rapamycin pathway. We employed a...
O-GlcNAc is a regulatory post-translational modification of nucleocytoplasmic proteins that has been implicated in multiple biological processes, including transcription. In humans, single genes encode enzymes for its attachment (O-GlcNAc transferase (OGT)) and removal (O-GlcNAcase (OGA)). An X-chromosome exome screen identified missense mutation, which encodes an amino acid the tetratricopeptide repeat, OGT (759G>T (p.L254F)) segregates with X-linked intellectual disability (XLID) affected...
There are no treatments for the extreme hyperphagia and obesity in Prader-Willi syndrome (PWS). The bestPWS clinical trial assessed efficacy, safety tolerability of methionine aminopeptidase 2 (MetAP2) inhibitor, beloranib. Participants with PWS (12-65 years old) were randomly assigned (1:1:1) to biweekly placebo, 1.8 mg beloranib or 2.4 injection 26 weeks at 15 US sites. Co-primary endpoints changes [measured by Hyperphagia Questionnaire Clinical Trials (HQ-CT); possible score 0-36] weight...
To assess the efficacy of lovastatin on visuospatial learning and attention for treating cognitive behavioral deficits in children with neurofibromatosis type 1 (NF1).