Wendy K. Chung
A5018722278- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Congenital Heart Disease Studies
- Pulmonary Hypertension Research and Treatments
- Cancer Genomics and Diagnostics
- Genetic Associations and Epidemiology
- Autism Spectrum Disorder Research
- RNA modifications and cancer
- Nutrition, Genetics, and Disease
- Congenital Diaphragmatic Hernia Studies
- Cardiomyopathy and Myosin Studies
- Ethics in Clinical Research
- Neurogenetic and Muscular Disorders Research
- Genetic factors in colorectal cancer
- Epigenetics and DNA Methylation
- Prenatal Screening and Diagnostics
- Cancer Risks and Factors
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Regulation of Appetite and Obesity
- Neonatal Respiratory Health Research
- Tracheal and airway disorders
Columbia University Irving Medical Center
2016-2025
Columbia University
2016-2025
Boston Children's Hospital
2011-2025
Harvard University
2008-2025
Boston Children's Museum
2010-2025
Weatherford College
2025
Simons Foundation
2014-2024
Photon Etc (Canada)
2023-2024
Herbert Irving Comprehensive Cancer Center
2016-2023
Cleveland Clinic
2023
We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). performed comparative genomic hybridization (CGH) on DNA of patients and unaffected subjects to detect variants not present in their respective parents. Candidate regions were validated by higher-resolution CGH, paternity testing, cytogenetics, fluorescence situ hybridization, microsatellite genotyping. Confirmed CNVs significantly (P = 0.0005). Such identified 12 out 118...
<h3>Importance</h3> The clinical management of<i>BRCA1</i>and<i>BRCA2</i>mutation carriers requires accurate, prospective cancer risk estimates. <h3>Objectives</h3> To estimate age-specific risks of breast, ovarian, and contralateral breast for mutation to evaluate modification by family history location. <h3>Design, Setting, Participants</h3> Prospective cohort study 6036<i>BRCA1</i>and 3820<i>BRCA2</i>female (5046 unaffected 4810 with or ovarian both at baseline) recruited in 1997-2011...
The generation of pluripotent stem cells from an individual patient would enable the large-scale production cell types affected by that patient's disease. These could in turn be used for disease modeling, drug discovery, and eventually autologous replacement therapies. Although recent studies have demonstrated reprogramming human fibroblasts to a state, it remains unclear whether these induced (iPS) can produced directly elderly patients with chronic We generated iPS 82-year-old woman...
Mice harboring mutations in the obese ( ob ) and diabetes db genes display similar phenotypes, it has been proposed that these encode ligand receptor, respectively, for a physiologic pathway regulates body weight. The cloning of , demonstration encodes secreted protein (leptin) binds specifically to receptor (OB-R) brain, have validated critical aspects this hypothesis. Here is shown by genetic mapping genomic analysis mouse rat fatty (a homolog ), gene encoding OB-R are same gene.
Pulmonary hypertension is associated with diverse cardiac, pulmonary, and systemic diseases in neonates, infants, older children contributes to significant morbidity mortality. However, current approaches caring for pediatric patients pulmonary have been limited by the lack of consensus guidelines from experts field. In a joint effort American Heart Association Thoracic Society, panel experienced clinicians clinician-scientists was assembled review literature make recommendations on...
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective treatment. We report the results of moderate-scale sequencing study aimed at increasing number genes known to contribute predisposition for ALS. performed whole-exome 2869 ALS patients and 6405 controls. Several were found be associated, TBK1 (the gene encoding TANK-binding kinase 1) was identified as an gene. bind phosphorylate proteins involved in innate immunity autophagy, including optineurin...
Putting both heart and brain at risk For reasons that are unclear, newborns with congenital disease (CHD) have a high of neurodevelopmental disabilities. Homsy et al. performed exome sequence analysis 1200 CHD patients their parents to identify spontaneously arising (de novo) mutations. Patients disorders had much higher burden damaging de novo mutations, particularly in genes likely roles development. Thus, clinical genotyping may help those greatest disabilities, allowing surveillance...
The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world
Abstract Each infectious agent represents a unique combination of pathogen-associated molecular patterns that interact with specific pattern-recognition receptors expressed on immune cells. Therefore, we surmised the blood cells individuals different infections might bear discriminative transcriptional signatures. Gene expression profiles were obtained for 131 peripheral samples from pediatric patients acute caused by influenza A virus, Gram-negative (Escherichia coli) or Gram-positive...
Prospective cohort study to characterize the clinical features and course of spinal muscular atrophy type I (SMA-I).Patients were enrolled at 3 sites followed for up 36 months with serial clinical, motor function, laboratory, electrophysiologic outcome assessments. Intervention was determined by published standard care guidelines. Palliative options offered.Thirty-four 54 eligible subjects SMA-I (63%) 50% these completed least 12 follow-up. The median age reaching combined endpoint death or...
Pulmonary arterial hypertension is a devastating disease with high mortality. Familial cases of pulmonary are usually characterized by autosomal dominant transmission reduced penetrance, and some familial have unknown genetic causes.We studied family in which multiple members had without identifiable mutations any the genes known to be associated disease, including BMPR2, ALK1, ENG, SMAD9, CAV1. Three were whole-exome sequencing. Additional patients or idiopathic screened for gene that was...
Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists.