A5053372119- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Chromosomal and Genetic Variations
- Genetic Syndromes and Imprinting
- Genomics and Chromatin Dynamics
- Congenital heart defects research
- Tannin, Tannase and Anticancer Activities
- Genetics and Neurodevelopmental Disorders
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Cancer Genomics and Diagnostics
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genomics and Rare Diseases
- DNA Repair Mechanisms
- Epigenetics and DNA Methylation
- Glutathione Transferases and Polymorphisms
- Acute Myeloid Leukemia Research
- Genetic factors in colorectal cancer
- Gene expression and cancer classification
- Prostate Cancer Treatment and Research
- Chronic Lymphocytic Leukemia Research
- DNA and Nucleic Acid Chemistry
- Biomedical Ethics and Regulation
- Chronic Myeloid Leukemia Treatments
- RNA modifications and cancer
- Microtubule and mitosis dynamics
LabCorp (United States)
2009-2024
Triangle
2011-2022
Research Triangle Park Foundation
2011-2021
Ottawa Hospital Research Institute
2020
Ottawa Hospital
2020
Liberty University
2015-2019
Mayo Clinic
2016
WinnMed
2016
Leco Corporation (United States)
2009-2013
University of Oxford
2013
Primate-specific segmental duplications are considered important in human disease and evolution. The inability to distinguish between allelic duplication sequence overlap has hampered their characterization as well assembly annotation of our genome. We developed a method whereby each public is analyzed at the clone level for overrepresentation within whole-genome shotgun sequence. This test ability detect larger than 15 kilobases irrespective copy number, location, or high similarity. mapped...
Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances technologies detect these changes allow for routine identification of submicroscopic imbalances large numbers patients.
Prader-Willi syndrome (PWS) is a complex, multisystem disorder. Its major clinical features include neonatal hypotonia, developmental delay, short stature, behavioral abnormalities, childhood-onset obesity, hypothalamic hypogonadism, and characteristic appearance. The genetic basis of PWS also complex. It caused by absence expression the paternally active genes in critical region on 15q11-q13. In approximately 70% cases this result deletion from paternal chromosome 15. 28%, it attributable...
We have determined the molecular basis for Usher syndrome type 1F (USH1F) in two families segregating this of syndromic deafness. By fluorescence situ hybridization, we placed human homolog mouse protocadherin Pcdh15 linkage interval defined by USH1F locus. genomic structure novel protocadherin, and found a single-base deletion exon 10 one family nonsense mutation 2 second. Consistent with phenotypes observed these families, demonstrated expression PCDH15 retina cochlea RT-PCR...
Analysis of recombination between loci (linkage analysis) has been a cornerstone human genetic research, enabling investigators to localize and, ultimately, identify loci. However, despite these efforts little is known about patterns meiotic exchange in germ cells or the mechanisms that control patterns. Using recently developed immunofluorescence methodology examine exchanges spermatocytes, we have identified remarkable variation rate within and among individuals. Subsequent analyses...
Journal Article Identification of centromeric antigens in dicentric Robertsonian translocations: CENP-C and CENP-E are necessary components functional centromeres Get access Beth A. Sullivan, Sullivan Department Genetics Center for Human Genetics, Case Western Reserve University10900 Euclid Avenue, Cleveland, OH 44106-4955, USA Search other works by this author on: Oxford Academic PubMed Google Scholar Stuart Schwartz * *To whom correspondence should be addressed Molecular Volume 4, Issue...
Persons with neurodevelopmental disorders or autism spectrum disorder (ASD) often harbor chromosomal microdeletions, yet the individual genetic contributors within these regions have not been systematically evaluated. We established a consortium of clinical diagnostic and research laboratories to accumulate large cohort alterations region 2q23.1 acquired 65 subjects microdeletion translocation. sequenced translocation breakpoints; aligned microdeletions determine critical region; assessed...
Prader-Willi syndrome (PWS) is a complex multiple anomaly that has been shown to result from deficient expression of paternal chromosome 15(q11-q13). In most cases, it caused either by deletion this region in the paternally inherited 15 or maternal uniparental disomy (UPD) 15. order determine whether there are phenotypic differences between patients whose PWS these two different mechanisms, 54 affected individuals (37 with deletion, 17 UPD) were personally examined and studied using...
Single nucleotide polymorphism (SNP) based chromosome microarrays provide both a high-density whole genome analysis of copy number and genotype. In the past 21 months we have analyzed over 13,000 samples primarily referred for developmental delay using Affymetrix SNP/CN 6.0 version array platform. addition to number, focused on relative distribution allele homozygosity (HZ) throughout confirm strong association uniparental disomy (UPD) with regions isoallelism found in most confirmed cases...