David A. Stevenson
A5000079406- Neurofibromatosis and Schwannoma Cases
- Protein Tyrosine Phosphatases
- Vascular Malformations and Hemangiomas
- Advancements in Solid Oxide Fuel Cells
- Sarcoma Diagnosis and Treatment
- Advanced Semiconductor Detectors and Materials
- Soft tissue tumor case studies
- Bone Tumor Diagnosis and Treatments
- Cancer Genomics and Diagnostics
- Galectins and Cancer Biology
- Vascular Malformations Diagnosis and Treatment
- Genomic variations and chromosomal abnormalities
- Genetic Syndromes and Imprinting
- Genomics and Rare Diseases
- Chalcogenide Semiconductor Thin Films
- Genetic factors in colorectal cancer
- Semiconductor materials and devices
- Genetics and Neurodevelopmental Disorders
- Meningioma and schwannoma management
- Semiconductor materials and interfaces
- DNA Repair Mechanisms
- Acute Myeloid Leukemia Research
- Congenital heart defects research
- Vascular Anomalies and Treatments
- Epigenetics and DNA Methylation
Stanford University
2016-2025
Stanford Medicine
1981-2024
Palo Alto University
2023-2024
Lucile Packard Children's Hospital
2015-2023
Stanford Health Care
2022
Massachusetts General Hospital
2016-2021
Johns Hopkins University
2021
National Cancer Institute
2021
Center for Cancer Research
2021
New York University
2021
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...
A simple model of the liquid is used to extend equation state previously obtained and treat process fusion, viscous flow, binary systems. Our which applies dense liquids has been fitted on Happel's modification van der Waals give a single applicable over entire range from gas liquid. differs solid in that surplus volume one part becomes available another without an activation energy appreciable as compared kT. This communal sharing gives rise entropy fusion R modified, course, if there are...
Abstract Piezo1 ion channels are mediators of mechanotransduction in several cell types including the vascular endothelium, renal tubular cells and erythrocytes. Gain-of-function mutations PIEZO1 cause an autosomal dominant haemolytic anaemia humans called dehydrated hereditary stomatocytosis. However, phenotypic consequence loss function has not previously been documented. Here we discover a novel role this channel lymphatic system. Through whole-exome sequencing, identify biallelic (a...
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...
Purpose The Cancer Esophagus Gefitinib trial demonstrated improved progression-free survival with the epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor gefitinib relative to placebo in patients advanced esophageal cancer who had disease progression after chemotherapy. Rapid and durable responses were observed a minority of patients. We hypothesized that genetic aberration EGFR pathway would identify benefitting from gefitinib. Methods A prespecified, blinded molecular...
Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed cancer. Individuals with may have distinctive craniofacial features, cardiac anomalies, growth developmental delays, as well dermatological, orthopedic, ocular, neurological issues; however, considerable overlap other RASopathies exists. Medical evaluation requires an understanding of the multifaceted...
Germline mutations in RASA1 are associated with capillary malformation‐arteriovenous malformation (CM‐AVM) syndrome. CM‐AVM syndrome is characterized by multi‐focal malformations and arteriovenous malformations. Lymphatic anomalies have been proposed as part of the phenotype. Intrafamilial variability has reported, suggesting modifiers somatic events. The objective study was to identify “second hits” from vascular syndrome, describe phenotypic variability. Participants were examined...
Abstract Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at presentation, evolving through a caudocranial pattern into generalized dystonia, prominent oromandibular, laryngeal cervical involvement. Although KMT2B-related is emerging as one the most common causes early-onset genetic much remains to be understood about full spectrum disease. We describe cohort...
Abstract Context Prader-Willi syndrome (PWS) is a rare neurobehavioral-metabolic disease caused by the lack of paternally expressed genes in chromosome 15q11-q13 region, characterized hypotonia, neurocognitive problems, behavioral difficulties, endocrinopathies, and hyperphagia resulting severe obesity if not controlled. Objective The primary end point was change from baseline using Hyperphagia Questionnaire for Clinical Trials (HQ-CT). Other points included Global Impression Scores, changes...
The photoluminescent and electroluminescent properties of GaN–GaN:Mg diodes are described. Visible violet electroluminescence was observed with excitation voltages 10–20 V the emission peak in region 2.9 eV. I-V characteristics showed I ∞ V3 where light emitted, power efficiency approximately 10−5. A photoluminescence at eV provided additional evidence for an acceptor level, associated Mg impurity, about 0.5 above valence band.
The RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components the Ras/mitogen-activated protein kinase (MAPK) pathway. Some these neurofibromatosis type 1, Noonan syndrome, Costello cardio-facio-cutaneous LEOPARD syndrome and Legius syndrome. Their common underlying pathogenetic mechanism brings about significant overlap phenotypic features includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI ocular abnormalities,...
De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects seven individuals ascertained from a large cardiovascular malformations cohort. We aimed to further define phenotypic and molecular spectrum this newly disorder. To minimise ascertainment bias, we recruited nine additional with pathogenic clinical research exome laboratory sequencing cohorts. Each individual underwent dysmorphology exam comprehensive medical history review. demonstrate...
Meningomyelocele is one of the most severe forms neural tube defects (NTDs) and frequent structural birth defect central nervous system. We assembled Spina Bifida Sequencing Consortium to identify causes. Exome genome sequencing 715 parent-offspring trios identified six patients with chromosomal 22q11.2 deletions, suggesting a 23-fold increased risk compared general population. Furthermore, analysis separate deletion cohort suggested 12- 15-fold NTD meningomyelocele. The loss