A5009211969- Connective tissue disorders research
- Genomics and Rare Diseases
- Intracranial Aneurysms: Treatment and Complications
- Genetic Associations and Epidemiology
- Dermatological and Skeletal Disorders
- Moyamoya disease diagnosis and treatment
- BRCA gene mutations in cancer
- CRISPR and Genetic Engineering
- Allelopathy and phytotoxic interactions
- Vascular anomalies and interventions
- Congenital heart defects research
- Fibroblast Growth Factor Research
- Biomedical and Engineering Education
- Genetic and Kidney Cyst Diseases
- Skin and Cellular Biology Research
- Cardiomyopathy and Myosin Studies
- Plant Toxicity and Pharmacological Properties
- Lysosomal Storage Disorders Research
- Studies on Chitinases and Chitosanases
- RNA regulation and disease
- Urticaria and Related Conditions
- Cardiovascular Issues in Pregnancy
- Genomic variations and chromosomal abnormalities
- Biomedical Text Mining and Ontologies
- Vascular Anomalies and Treatments
University of Washington
2009-2024
University of Washington Medical Center
2009-2017
American Board of Internal Medicine
2016
University of California, Berkeley
2016
Ohio University
2002-2016
Seattle University
2011
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, neonatally lethal developmental disorder the lung defining histologic abnormalities typically associated multiple congenital anomalies (MCA). Using array CGH analysis, we have identified six overlapping microdeletions encompassing FOX transcription factor gene cluster in chromosome 16q24.1q24.2 patients ACD/MPV and MCA. Subsequently, four different heterozygous mutations (frameshift, nonsense, no-stop)...
The genetic testing and screening of children are commonplace. Decisions about whether to offer should be driven by the best interest child. growing literature on psychosocial clinical effects such can help inform practices. This policy statement represents recommendations developed collaboratively American Academy Pediatrics College Medical Genetics Genomics with respect many scenarios in which occur.
Recommendations for laboratories to report incidental findings from genomic tests have stimulated interest in such results. In order investigate the criteria and processes assigning pathogenicity of specific variants estimate frequency patients European African ancestry, we classified potentially actionable pathogenic single-nucleotide (SNVs) all 4300 European- 2203 African-ancestry participants sequenced by NHLBI Exome Sequencing Project (ESP). We considered 112 gene-disease pairs selected...
Abstract Comprehensively mapping the genetic basis of human disease across diverse individuals is a long-standing goal for field genetics 1–4 . The All Us Research Program longitudinal cohort study aiming to enrol group at least one million USA accelerate biomedical research and improve health 5,6 Here we describe programme’s genomics data release 245,388 clinical-grade genome sequences. This resource unique in its diversity as 77% participants are from communities that historically...
Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to identify the genetic basis this by sequencing most coding exons in affected individuals.Through search available case studies communication with collaborators, we identified families that included at least one individual three five main features DOORS syndrome: deafness, intellectual disability, seizures. Participants were recruited...
Biallelic mutations in FKBP14 cause a recessive form of Ehlers‐Danlos syndrome (EDS) characterized by progressive kyphoscoliosis, myopathy, and hearing loss. To date, four children one adult with this condition have been reported. We recently identified 42‐year‐old man severe restrictive/obstructive lung disease, short stature, mild loss, decreased muscle mass, dissection the celiac artery at age 41. He also had complete occlusion superior mesenteric compensatory flow through an enlarged...
Genetic testing can be used to determine if unexplained fractures in children could have resulted from a predisposition bone fractures, e.g., osteogenesis imperfecta. However, uncertainty is introduced variant of unknown significance (VUS) identified. Proper interpretation VUS these situations critical because its influence on clinical care and court rulings. This study sought understand how are interpreted by practitioners when there differential diagnosis including both imperfecta...
Diagnostic laboratories gather phenotypic data through requisition forms, but there is no consensus as to which are essential for variant interpretation. The ClinGen Cardiomyopathy Variant Curation Expert Panel defined a set hypertrophic cardiomyopathy (HCM) interpretation, with the goal of standardizing forms. Phenotypic elements listed on forms from nine leading testing were compiled assess divergence in collection. A pilot 50 HCM cases was implemented determine feasibility harmonizing...
INTRODUCTION: The role of somatic genetic variants in the pathogenesis intracranial-aneurysm formation is unknown. We identified a 23-yr-old man with progressive, right-sided intracranial aneurysms, ipsilateral to an impressive cutaneous phenotype. index individual underwent series unrevealing evaluations for known connective-tissue disorders, and served as mosaic discovery novel mutations involved aneurysm pathogenesis. METHODS: Deoxyribonucleic acid (DNA) was extracted from multiple...