A5070769975- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Chromosomal and Genetic Variations
- Congenital heart defects research
- Genetic Syndromes and Imprinting
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomics and Chromatin Dynamics
- Epigenetics and DNA Methylation
- Hereditary Neurological Disorders
- RNA modifications and cancer
- Acute Myeloid Leukemia Research
- Fetal and Pediatric Neurological Disorders
- Advanced biosensing and bioanalysis techniques
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- RNA Research and Splicing
- Williams Syndrome Research
- Hedgehog Signaling Pathway Studies
- Autism Spectrum Disorder Research
- Gene expression and cancer classification
- Neurogenetic and Muscular Disorders Research
- Congenital Ear and Nasal Anomalies
- Congenital Anomalies and Fetal Surgery
- Acute Lymphoblastic Leukemia research
- Genetic factors in colorectal cancer
McMaster University
2002-2025
Washington State University
2005-2024
North Carolina State University
2021
PerkinElmer (United States)
2011-2017
Signature Analytics (United States)
2008-2015
Signature Research (United States)
2005-2014
Anna Needs Neuroblastoma Answers
2013
Child Health and Development Institute
2013
Children's Hospital at Montefiore
2013
Icahn School of Medicine at Mount Sinai
2013
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.
Some copy-number variants are associated with genomic disorders extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents challenges in genetic diagnosis, counseling, and management.We analyzed the genomes 2312 children known to carry a variant intellectual disability congenital abnormalities, using array comparative hybridization.Among affected children, 10.1% carried second large addition primary lesion. We identified seven disorders, each defined by specific...
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, neonatally lethal developmental disorder the lung defining histologic abnormalities typically associated multiple congenital anomalies (MCA). Using array CGH analysis, we have identified six overlapping microdeletions encompassing FOX transcription factor gene cluster in chromosome 16q24.1q24.2 patients ACD/MPV and MCA. Subsequently, four different heterozygous mutations (frameshift, nonsense, no-stop)...
Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex clinical phenotypes. Although hypotheses have been put forward, it unclear as to whether particular gene loci on chromosome 21 (HSA21) are sufficient cause DS and its features. Here we present high-resolution genetic map of phenotypes based an analysis 30 subjects carrying rare segmental trisomies various regions HSA21. By using state-of-the-art genomics technologies mapped at exon-level resolution...
PurposeAlthough an increasing number of copy-number variations are being identified as susceptibility loci for a variety pediatric diseases, the penetrance these remains mostly unknown. This poses challenges counseling, both recurrence risks and prenatal diagnosis. We sought to provide empiric estimates some recurrent, disease-susceptibility loci.MethodsWe conducted Bayesian analysis, based on variation frequencies in control populations (n = 22,246) our database >48,000 postnatal...
ABSTRACT Objective The aim of this study is to understand the diagnostic utility comparative genomic hybridization (CGH)‐based microarrays for pregnancies with abnormal ultrasound findings. Methods We performed a retrospective analysis 2858 ultrasounds and normal karyotypes (when performed) tested in our laboratory using CGH targeted known chromosomal syndromes later versions providing backbone coverage entire genome. Abnormalities were stratified according organ system involvement....
Abstract The advent of microarray‐based comparative genomic hybridization (array CGH) promises to revolutionize clinical cytogenetics because its ability rapidly screen the genome at an unprecedented resolution. Yet, array CGH detect and evaluate low‐level mosaicism is not known. Our laboratory has analyzed over 3,600 cases with SignatureChip® which we developed for detection microdeletions, microduplications, aneuploidy, unbalanced translocations, subtelomeric pericentromeric copy number...
Interstitial deletions of 3q29 have been recently described as a microdeletion syndrome mediated by nonallelic homologous recombination between low-copy repeats resulting in an ~1.6 Mb common-sized deletion. Given the molecular mechanism causing deletion, reciprocal duplication is anticipated to occur with equal frequency, although only one family this has reported.In study we describe 14 individuals microdeletions 3q29, including mildly affected mother and two children, identified among...
DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, segmental duplications were integrated at level with medical genetic data, including 440 rearrangement breakpoints associated disease. This approach enabled discovery candidate genes for developmental diseases autism.
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...