A5002509106- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- Congenital heart defects research
- Congenital limb and hand anomalies
- CRISPR and Genetic Engineering
- Hedgehog Signaling Pathway Studies
- Advanced biosensing and bioanalysis techniques
- Maternal Mental Health During Pregnancy and Postpartum
- Cystic Fibrosis Research Advances
- Renal and related cancers
- Restraint-Related Deaths
- Gestational Diabetes Research and Management
- Ocular Disorders and Treatments
- Renal cell carcinoma treatment
- Neonatal Respiratory Health Research
- Chemical Reaction Mechanisms
- Pregnancy and Medication Impact
- Chromosomal and Genetic Variations
- Congenital gastrointestinal and neural anomalies
- Congenital Ear and Nasal Anomalies
Lineage Cell Therapeutics (United States)
2016-2020
Predictive Science (United States)
2020
SickKids Foundation
2019
University of Toronto
2019
Hospital for Sick Children
2019
University of Utah
2019
University of Colorado Boulder
2018
Rosetta Genomics (Israel)
2015
Ambry Genetics (United States)
2005
Pasadena City College
1989
It has been shown that 5-azacytidine (5-Aza-Cyd) can reactivate genes on the inactive human X chromosome. is assumed 5-Aza-Cyd acts by causing demethylation of DNA at specific sites, but this cannot be demonstrated directly without a cloned probe. Instead, we have utilized technique DNA-mediated transformation to show 5-Aza-Cyd-induced reactivation occurs level. DNAs from various mouse-human or hamster-human hybrid cell lines, deficient for mouse hamster hypoxanthine...
Copy-number variations (CNVs) are strong risk factors for neurodevelopmental and psychiatric disorders. The 15q13.3 microdeletion syndrome region contains up to ten genes is associated with numerous conditions, including autism spectrum disorder (ASD), epilepsy, schizophrenia, intellectual disability; however, the mechanisms underlying pathogenesis of remain unknown. We combined whole-genome sequencing, human brain gene expression (proteome transcriptome), a mouse model syntenic heterozygous...
Copy number variants (CNVs) detected by chromosomal microarray analysis (CMA) significantly contribute to understanding the etiology of autism spectrum disorder (ASD) and other related conditions. In recognition value CMA testing its impact on medical management, is in guidelines as a first-tier test evaluation children with these disorders. As becomes adopted into routine care for patients, it increasingly important report clinical findings. This study summarizes results over 4 years...
Copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) significantly contribute to the etiology of neurodevelopmental disorders, such developmental delay (DD), intellectual disability (ID), and autism spectrum disorder (ASD). This study summarizes results 3.5 years CMA testing a CLIA-certified clinical laboratory 5487 patients with conditions were clinically evaluated for rare copy using 2.8-million probe custom optimized detection CNVs associated disorders. We...
Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms single nucleotide polymorphism probes can detect large homozygous regions within genome, which represent potential risk recessively inherited disorders. To determine frequency in pathogenic or likely variants be detected these of homozygosity, we performed whole exome sequencing (WES) 53...
Abstract We describe a malformed newborn girl with an interstitial deletion of the long arm chromosome 2 (karyotype: 46, XX, del (2) (q31q33)). This is first report this particular abnormality that includes autopsy findings. Comparison previous cases in literature suggests uniformly results developmental delays, craniofacial changes, and occasionally microcephaly, low‐set ears, hand foot abnormalities.
Copy number variants (CNV)s involving KANK1 are generally classified as of unknown significance. Several clinical case reports suggest that the loss on chromosome 9p24.3 has potential impact neurodevelopment. These studies inconsistent in terms patient phenotype and suspected pattern inheritance. Further complexities arise because these published utilize a variety genetic testing platforms with varying resolution 9p region; this ultimately causes uncertainty about impacted genomic...
Mowat-Wilson syndrome is a rare genetic condition characterized by intellectual disability, structural anomalies, and dysmorphic features. It caused haploinsufficiency of the <i>ZEB2</i> gene in chromosome 2q22.3. Over 180 distinct mutations have been reported, including nonsense missense point mutations, deletions, large chromosomal rearrangements. We report on 14-year-old female with clinical diagnosis syndrome. Chromosomal microarray identified novel de novo 69-kb duplication...
Seizures are present in over 90% of infants and children with Wolf–Hirschhorn syndrome (WHS). When present, they significantly affect quality life. The goal this study was to use caregiver reports describe the comparative efficacies commonly used antiepileptic medications a large population individuals WHS.A web-based, confidential survey developed capture seizure semiology chronologic record treatments as well responses each treatment. Adverse events for drug were also cataloged.We received...
Abstract Purpose To assess clinical chromosomal microarray (CMA) genomic testing reports for the following: (a) usage of reporting elements consistent with 2011 ACMG guidelines and other identified in primary literature, (b) information quality, (c) readability. Methods We retrospectively analyzed from to 2016 provided to, or by our laboratory aid detection interpretation copy number variants. Analysis was restricted following sections: interpretation, recommendations, limitations,...
Chromosomal microarray analysis (CMA) is recognized as the first-tier test in genetic evaluation of children with developmental delays, intellectual disabilities, congenital anomalies and autism spectrum disorders unknown etiology.To optimize detection clinically relevant copy number variants associated these conditions, we designed a whole-genome microarray, FirstStepDx PLUS (FSDX). A set 88,435 custom probes was added to Affymetrix CytoScanHD platform targeting genomic regions strongly...
Abstract We report on a case of synophthalmic cyclopia and alobar holoprosencephaly associated with an interstitial deletion the short arm chromosome 2: del(2)(p21p23). This is second this phenotype in association region, comparison infrequent other cases 2p deletions suggests causal relationship between band 2p21 cyclopia.
Abstract Maternal serum pregnancy specific beta‐1 glycoprotein (SP‐1) levels in the second trimester may be predictive of Down syndrome (DS). An enzyme immunoassay was used to measure SP‐1 sera from 46 DS pregnancies and 117 normal control women matched for maternal age, gestational length storage. In samples, there were slight correlations between concentration age. The increased with each week gestation 15 20 weeks. All but one had greater than median. Using a cutoff 2.8 multiples median...
Autism spectrum disorder (ASD) is a heterogeneous condition with complex genetic etiology. The objective of this study to identify the factors that underlie ASD phenotype and other clinical features Professor Temple Grandin, an animal scientist woman high-functioning ASD. Identifying underlying cause for can impact medical management, personalize services treatment, uncover risks are associated diagnosis. Prof. Grandin underwent chromosomal microarray analysis, whole exome sequencing, genome...
Developmental disorders (DD), including autism spectrum disorder (ASD) and intellectual disability (ID), are a common group of clinical manifestations caused by variety genetic abnormalities. Genetic testing, chromosomal microarray (CMA), plays an important role in diagnosing these conditions, but CMA can be limited incomplete coverage abnormalities lack guidance for conditions rarely seen treating physicians.We conducted longitudinal, randomized controlled trial investigating the impact...
Complex, and sometimes intractable, seizures affect the quality of life cognitive development over 90% individuals with Wolf–Hirschhorn syndrome (WHS). Fine resolution genotype–phenotype mapping WHS locus recently identified a candidate gene whose probable function has led to insights into mechanism connecting those Dravet syndrome, distinct condition caused by mutations in SCN1A SCN1B . In addition this possible molecular mechanistic connection, these disorders' share strikingly similar...
To evaluate a new tool to aid interpretation of copy number variants (CNVs) in individuals with neurodevelopmental disabilities.Critical exon indexing (CEI) was used identify genes critical exons (CEGs) from clinically reported CNVs, which may contribute disorders (NDDs). The 742 pathogenic CNVs and 1,363 unknown significance (VUS) identified by chromosomal microarray analysis 5,487 NDDs were subjected CEI CEGs. CEGs subsequent random series VUS evaluated for relevance CNV interpretation.CEI...
Abstract Introduction Chromosomal microarray analysis (CMA) is recognized as the first-tier test in genetic evaluation of children with developmental delays, intellectual disabilities, congenital anomalies and autism spectrum disorders unknown etiology. Array Design To optimize detection clinically relevant copy number variants associated these conditions, we designed a whole-genome microarray, FirstStep Dx PLUS (FSDX). A set 88,435 custom probes was added to Affymetrix CytoScanHD platform...
Operative removal of oncocytomas is generally unnecessary, but not infrequent in the context renal masses. The use pre-nephrectomy biopsies a function historical limitations histopathological differential diagnosis this setting. Assessment clinicians' receptiveness to novel molecular diagnostic approach challenge was undertaken by means survey vehicle administered 102 practicing urologists and pathologists who met inclusion criteria related their actual clinical activity. Survey results...