A5074963804- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Genetic Syndromes and Imprinting
- Metabolism and Genetic Disorders
- Epigenetics and DNA Methylation
- Virus-based gene therapy research
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Cell Adhesion Molecules Research
- Congenital heart defects research
- CRISPR and Genetic Engineering
- RNA modifications and cancer
- RNA Interference and Gene Delivery
- Amino Acid Enzymes and Metabolism
- Chromosomal and Genetic Variations
- Viral Infectious Diseases and Gene Expression in Insects
- Cystic Fibrosis Research Advances
- Nicotinic Acetylcholine Receptors Study
- Fetal and Pediatric Neurological Disorders
- Biochemical and Molecular Research
- Immune Response and Inflammation
- RNA and protein synthesis mechanisms
- Autism Spectrum Disorder Research
- Animal Genetics and Reproduction
- Neonatal Health and Biochemistry
Baylor College of Medicine
2015-2024
Luna Innovations (United States)
2022
Simons Foundation
2021
Baylor Genetics
1997-2019
Chinese University of Hong Kong
2019
Columbia University
1999-2019
Rice University
2019
Texas Children's Hospital
2009-2019
Natera (United States)
2019
John Wiley & Sons (United Kingdom)
2016-2018
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.
Autism spectrum disorders (ASDs) are common and clinically heterogeneous neurodevelopmental disorders. Gastrointestinal associated symptoms commonly reported in individuals with ASDs, but key issues such as the prevalence best treatment of these conditions incompletely understood. A central difficulty recognizing characterizing gastrointestinal dysfunction ASDs is communication difficulties experienced by many affected individuals. multidisciplinary panel reviewed medical literature aim...
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...
Granulocyte [polymorphonuclear leucocyte (PMN)] migration to sites of infection and subsequent activation is essential for host defense. Gene-targeted mice deficient integrin-associated protein (IAP, also termed CD47) succumbed Escherichia coli peritonitis at inoccula survived by heterozygous littermates. In vivo, they had an early defect in PMN accumulation the site infection. vitro, IAP −/− PMNs were β 3 integrin-dependent ligand binding, oxidative burst, Fc receptor-mediated phagocytosis....
Leukocyte recruitment into inflammatory sites is initiated by a reversible transient adhesive contact with the endothelium called leukocyte rolling, which thought to be mediated selectin family of adhesion molecules. Selectin-mediated rolling precedes cell emigration, significantly impaired in both P- and L-selectin gene-deficient mice. We report here that approximately 13% all leukocytes passing venules cremaster muscle wild-type mice roll along at < 20 min after surgical dissection....
In 1995, a consensus statement was published for the purpose of summarizing salient clinical features Angelman syndrome (AS) to assist clinician in making timely and accurate diagnosis. Considering scientific advances made last 10 years, it is necessary now review validity original criteria. As project, methodology used this convene group scientists clinicians, with experience AS, develop concise statement, supported by publications where appropriate. It hoped that revised document will...
Gene targeting was used to produce mice deficient in intercellular adhesion molecule 1 (ICAM-1) or CD54, an immunoglobulin-like cell that binds beta 2 integrins. Homozygous animals develop normally, are fertile, and have a moderate granulocytosis. The nature of the mutation, RNA analysis, immunostaining consistent with complete loss surface expression ICAM-1. Deficient exhibit prominent abnormalities inflammatory responses including impaired neutrophil emigration response chemical...
SHANK3 is a synaptic scaffolding protein enriched in the postsynaptic density (PSD) of excitatory synapses. Small microdeletions and point mutations have been identified small subgroup individuals with autism spectrum disorder (ASD) intellectual disability. also plays key role chromosome 22q13.3 microdeletion syndrome (Phelan–McDermid syndrome), which includes ASD cognitive dysfunction as major clinical features. To evaluate Shank3 vivo , we disrupted isoforms gene mice by deleting exons...
<h3>Background</h3> Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism developmental delay. <h3>Method</h3> We indentified 27 deletions 18 duplications of identified 0.6% all samples submitted for clinical array-CGH (comparative genomic hybridisation) analysis. Detailed molecular phenotypic characterisations performed on 17 deletion subjects ten duplication. <h3>Results</h3> The most common manifestations 10 speech/language delay cognitive impairment....
The α7 subunit of the neuronal nicotinic acetylcholine receptor (nAChR) is abundantly expressed in hippocampus and implicated modulating neurotransmitter release binding α-bungarotoxin (α-BGT). A null mutation for was prepared by deleting last three exons gene. Mice homozygous lack detectable mRNA, but mice are viable anatomically normal. Neuropathological examination brain revealed normal structure cell layering, including cortical barrel fields; histochemical assessment also...
The expression of leukocyte and endothelial cell adhesion molecules (CAMs) is essential for the emigration leukocytes during an inflammatory response. importance response in development atherosclerosis indicated by increased molecules, proinflammatory cytokines, growth factors lesions lesion-prone areas protection mice deficient various aspects We have quantitated effect deficiency intercellular molecule (ICAM)-1, P-selectin, or E-selectin on atherosclerotic lesion formation at 20 wk age...