Christine M. Eng
A5107559949- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Lysosomal Storage Disorders Research
- Cancer Genomics and Diagnostics
- Congenital heart defects research
- Prenatal Screening and Diagnostics
- RNA modifications and cancer
- RNA regulation and disease
- RNA Research and Splicing
- Genetic factors in colorectal cancer
- Neurogenetic and Muscular Disorders Research
- Cellular transport and secretion
- Mitochondrial Function and Pathology
- BRCA gene mutations in cancer
- RNA and protein synthesis mechanisms
- Metabolism and Genetic Disorders
- Immunodeficiency and Autoimmune Disorders
- Chromatin Remodeling and Cancer
- Carbohydrate Chemistry and Synthesis
- Genomics and Chromatin Dynamics
- Congenital Ear and Nasal Anomalies
- CRISPR and Genetic Engineering
- Glycogen Storage Diseases and Myoclonus
- Biomedical Text Mining and Ontologies
Baylor College of Medicine
2016-2025
Baylor Genetics
2016-2025
Columbia University
2019-2024
NewYork–Presbyterian Hospital
2024
New York Hospital Queens
2024
National Institute of Neurological Disorders and Stroke
2023
National Institutes of Health
2023
University Medical Center Utrecht
2023
Utrecht University
2023
University of California System
2022
Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patients with suspected genetic disorders.
Clinical whole-exome sequencing is increasingly used for diagnostic evaluation of patients with suspected genetic disorders.To perform clinical and report (1) the rate molecular diagnosis among phenotypic groups, (2) spectrum alterations contributing to disease, (3) prevalence medically actionable incidental findings such as FBN1 mutations causing Marfan syndrome.Observational study 2000 consecutive analyzed between June 2012 August 2014. Whole-exome tests were performed at a genetics...
Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate accuracy, efficacy, incremental yield chromosomal compared with karyotyping routine prenatal diagnosis.
Whole-exome sequencing can provide insight into the relationship between observed clinical phenotypes and underlying genotypes.We conducted a retrospective analysis of data from series 7374 consecutive unrelated patients who had been referred to diagnostic laboratory for whole-exome sequencing; our goal was determine frequency characteristics whom more than one molecular diagnosis reported. The phenotypic similarity molecularly diagnosed pairs diseases calculated with use terms Human...
<h3>Importance</h3> While congenital malformations and genetic diseases are a leading cause of early infant death, to our knowledge, the contribution single-gene disorders in this group is undetermined. <h3>Objective</h3> To determine diagnostic yield use clinical exome sequencing critically ill infants. <h3>Design, Setting, Participants</h3> Clinical was performed for 278 unrelated infants within first 100 days life who were admitted Texas Children’s Hospital Houston, Texas, during 5-year...
Many patients remain without a diagnosis despite extensive medical evaluation. The Undiagnosed Diseases Network (UDN) was established to apply multidisciplinary model in the evaluation of most challenging cases and identify biologic characteristics newly discovered diseases. UDN, which is funded by National Institutes Health, formed 2014 as network seven clinical sites, two sequencing cores, coordinating center. Later, central biorepository, metabolomics core, organisms screening center were added.
Abstract Neonatal cholestasis is a potentially life-threatening condition requiring prompt diagnosis. Mutations in several different genes can cause progressive familial intrahepatic cholestasis, but known cannot account for all cases. Here we report four individuals from two unrelated families with neonatal and mutations NR1H4 , which encodes the farnesoid X receptor (FXR), bile acid-activated nuclear hormone that regulates acid metabolism. Clinical features of severe, persistent -related...
De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP-activating protein, cause nonsyndromic intellectual disability (NSID). All disease-causing point identified until now SYNGAP1 are truncating, raising the possibility of an association between this type and NSID. Here, we report identification first pathogenic missense (c.1084T>C [p.W362R], c.1685C>T [p.P562L]) three novel truncating (c.283dupC [p.H95PfsX5], c.2212_2213del [p.S738X], (c.2184del [p.N729TfsX31]) patients with A subset...
Given the rarity of most single-gene Mendelian disorders, concerted efforts data exchange between clinical and scientific communities are critical to optimize molecular diagnosis novel disease gene discovery. We designed implemented protocols for study cases which a plausible was not achieved in genomics diagnostic laboratory (i.e. unsolved exomes). Such were recruited research further analyses, order potentially: (1) accelerate discovery; (2) increase yield whole exome sequencing (WES); (3)...
Abstract Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by combination of rare de novo and inherited variants as well common in at least several hundred genes. However, significantly larger sample sizes are needed to identify the complete set genetic risk factors. We conducted pilot study for SPARK (SPARKForAutism.org) 457 families with ASD, all consented online. Whole exome sequencing (WES) genotyping data were generated each family using DNA from saliva....