A5101664671- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- Cancer Genomics and Diagnostics
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
- BRCA gene mutations in cancer
- Congenital Anomalies and Fetal Surgery
- Genetic factors in colorectal cancer
- Genomics and Chromatin Dynamics
- Lysosomal Storage Disorders Research
- Acute Myeloid Leukemia Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Tumors and Oncological Cases
- Fetal and Pediatric Neurological Disorders
- Glycogen Storage Diseases and Myoclonus
- DNA Repair Mechanisms
- Gene expression and cancer classification
- Animal Genetics and Reproduction
- Electrohydrodynamics and Fluid Dynamics
- Hemoglobinopathies and Related Disorders
- Electrospun Nanofibers in Biomedical Applications
- Hedgehog Signaling Pathway Studies
Yale University
2015-2024
University of Jinan
2024
Genomic Health (United States)
2024
Shenzhen Maternity and Child Healthcare Hospital
2021
Weatherford College
2011
JS Genetics (United States)
2011
Yale Cancer Center
2011
East Carolina University
2011
Howard Hughes Medical Institute
2008
University of Alabama at Birmingham
1995-1999
Phosphate homeostasis is central to diverse physiologic processes including energy homeostasis, formation of lipid bilayers, and bone formation. Reduced phosphate levels due excessive renal loss cause hypophosphatemic rickets, a disease characterized by prominent defects; conversely, hyperphosphatemia, major complication failure, accompanied parathyroid hyperplasia, hyperparathyroidism, osteodystrophy. Here, we define syndrome featuring both rickets hyperparathyroidism hyperplasia as well...
Abstract We performed a pilot study to establish the analytical and clinical validity of whole genome oligonucleotide array comparative genomic hybridization (oaCGH) using 44,000 from Agilent Technologies. DNA specimens 10 patients with different chromosomal abnormalities were used as test group sex mismatched normal male or female references. A series mixtures containing 50%, 33%, 25% known deletion was generated evaluate capacity oaCGH on detecting mosaic pattern. Receiver operating...
To evaluate the clinical validity of genome-wide oligonucleotide array comparative genomic hybridization (aCGH) for detecting somatic abnormalities, we have applied this analysis to 30 cases (13 MDS and 17 AML) with clonal chromosomal abnormalities detected in more than 50% analyzed metaphase cells.The aCGH all numerical gains losses from mainline clones 113 copy number alterations (CNAs) ranging 0.257 102.519 megabases (Mb). Clinically significant recurrent deletions 5q (involving RPS14...
Noninvasive prenatal testing of common aneuploidies has become routine over the past decade, but monogenic disorders remains a challenge in clinical implementation. Most recent studies have inherent limitations, such as complicated procedures, lack versatility, and need for prior knowledge parental genotypes or haplotypes. To overcome these robust versatile next-generation sequencing-based cell-free DNA (cfDNA) allelic molecule counting system termed cfDNA barcode-enabled single-molecule...
Abstract Detection of chromosomal structural abnormalities using conventional cytogenetic methods poses a challenge for prenatal genetic counseling due to unpredictable clinical outcomes and risk recurrence. Of the 1,726 cases in 3‐year period, we performed oligonucleotide array comparative genomic hybridization (aCGH) analysis on 11 detected with various abnormalities. In nine cases, aberrations gene contents involving 3p distal deletion, marker chromosome from 4, derivative 5 5p/7q...
Abstract Background Genomic aberrations can be used to determine cancer diagnosis and prognosis. Clinically relevant novel discovered using high-throughput assays such as Single Nucleotide Polymorphism (SNP) arrays next-generation sequencing, which typically provide aggregate signals of many cells at once. However, heterogeneity tumor subclones dramatically complicates the task detecting aberrations. Results The signal a population described linear system equations. We employed measure...
Abstract We detected a unique de novo complex chromosome rearrangement (CCR) in patient with multiple abnormalities including growth retardation, facial anomalies, exudative vitreoretinopathy (EVR), cleft palate, and minor digital anomalies. Cytogenetic analysis, fluorescent situ hybridization, microsatellite genotyping showed reciprocal translocation between chromosomes 5 8, translocation‐deletion‐inversion process the formation of derivative 11 16. High‐density whole‐genome oligonucleotide...