Published in Sultan Qaboos Univ Med J on February 27, 2013
A Streamlined Protocol for Molecular Testing of the DMD Gene within a Diagnostic Laboratory: A Combination of Array Comparative Genomic Hybridization and Bidirectional Sequence Analysis. ISRN Neurol (2013) 0.78
Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice. Microarrays (Basel) (2013) 0.75
Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene. Ups J Med Sci (2015) 0.75
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Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med (2005) 3.39
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med (2010) 3.12
The detection of large deletions or duplications in genomic DNA. Hum Mutat (2002) 1.84
Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method. Hum Mutat (2008) 1.78
Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas. Proc Natl Acad Sci U S A (2002) 1.51
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat (2008) 1.35
Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome. Heart Rhythm (2008) 1.33
Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum Genet (2010) 1.32
Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions. Clin Chem (2008) 1.21
Multiplex Ligation-dependent Probe Amplification (MLPA®) for the detection of copy number variation in genomic sequences. Methods Mol Biol (2011) 1.05
Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders. Clin Chem (2011) 1.03
Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities. Pathol Biol (Paris) (2008) 0.94
Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy. Int J Neurol (2002) 0.87
FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. Hum Genet (2004) 0.84
Automation of a primer design and evaluation pipeline for subsequent sequencing of the coding regions of all human Refseq genes. Bioinformation (2012) 0.83
Utilization of targeted array comparative genomic hybridization, MitoMet, in prenatal diagnosis of metabolic disorders. Mol Genet Metab (2011) 0.82
Validation of zebrafish (Danio rerio) reference genes for quantitative real-time RT-PCR normalization. Acta Biochim Biophys Sin (Shanghai) (2007) 2.47
Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds. Heart Rhythm (2010) 1.87
Community detection of long QT syndrome with a clinical registry: an alternative to ECG screening programs? Heart Rhythm (2012) 1.67
Validation of reference genes for quantitative RT-PCR studies of gene expression in perennial ryegrass (Lolium perenne L.). BMC Mol Biol (2010) 1.51
Genetic analysis of autoimmune type 1 diabetes mellitus in mice. 1991. J Immunol (2014) 1.37
Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome. Heart Rhythm (2008) 1.33
Chemical discovery and global gene expression analysis in zebrafish. Nat Biotechnol (2003) 1.33
A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. Hum Mol Genet (2002) 1.32
Role of gut microbiota in Crohn's disease. Expert Rev Gastroenterol Hepatol (2009) 1.02
Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genes. Gene (2011) 0.99
Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction? Heart Rhythm (2010) 0.96
Association of vitamin D receptor gene polymorphisms with insulin resistance and response to vitamin D. Metabolism (2011) 0.94
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay. Case Rep Genet (2012) 0.88
Identification and expression analysis of kcnh2 genes in the zebrafish. Biochem Biophys Res Commun (2010) 0.87
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry. J Neurol (2012) 0.86
"Jerky" dystonia in children: spectrum of phenotypes and genetic testing. Mov Disord (2009) 0.85
Quantitative real-time RT-PCR (qRT-PCR) of zebrafish transcripts: optimization of RNA extraction, quality control considerations, and data analysis. Cold Spring Harb Protoc (2009) 0.85
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features. Eur J Med Genet (2012) 0.85
Short interfering RNA-mediated gene targeting in the zebrafish. FEBS Lett (2004) 0.84
Automation of a primer design and evaluation pipeline for subsequent sequencing of the coding regions of all human Refseq genes. Bioinformation (2012) 0.83
Activin is a potent growth suppressor of epithelial ovarian cancer cells. Cancer Lett (2009) 0.83
Continuity of care for women with breast cancer: a survey of the views and experiences of patients, carers and health care professionals. Eur J Oncol Nurs (2010) 0.81
Visualization, characterization and modulation of calcium signaling during the development of slow muscle cells in intact zebrafish embryos. Int J Dev Biol (2011) 0.81
Modeling inflammatory bowel disease: the zebrafish as a way forward. Expert Rev Mol Diagn (2007) 0.81
Sarcoglycans of the zebrafish: orthology and localization to the sarcolemma and myosepta of muscle. Biochem Biophys Res Commun (2003) 0.80
Prospective ranking of the sonographic markers for aneuploidy: data of 2143 prenatal cytogenetic diagnoses referred for abnormalities on ultrasound. Aust N Z J Obstet Gynaecol (2003) 0.80
Molecular Characterisation of Bacterial Community Structure along the Intestinal Tract of Zebrafish (Danio rerio): A Pilot Study. ISRN Microbiol (2012) 0.80
Citrullinaemia type I: a common mutation in the Pacific Island population. J Paediatr Child Health (2011) 0.79
A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia. J Child Neurol (2013) 0.79
Kiwifruit extracts inhibit cytokine production by lipopolysaccharide-activated macrophages, and intestinal epithelial cells isolated from IL10 gene deficient mice. Cell Immunol (2011) 0.79
Frequency and genetic spectrum of maturity-onset diabetes of the young (MODY) in southern New Zealand. J Diabetes Metab Disord (2013) 0.79
Developmental delay referrals and the roles of Fragile X testing and molecular karyotyping: a New Zealand perspective. Mol Med Rep (2013) 0.79
The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review. Allergy Asthma Clin Immunol (2010) 0.79
Array comparative genomic hybridisation: a new tool in the diagnostic genetic armoury. N Z Med J (2010) 0.78
A Streamlined Protocol for Molecular Testing of the DMD Gene within a Diagnostic Laboratory: A Combination of Array Comparative Genomic Hybridization and Bidirectional Sequence Analysis. ISRN Neurol (2013) 0.78
Bacterial artificial chromosomes (BACs)-on-Beads™ as a diagnostic platform for the rapid aneuploidy screening of products of conception. Mol Med Rep (2013) 0.78
The placenta in infants >36 weeks gestation with neonatal encephalopathy: a case control study. Arch Dis Child Fetal Neonatal Ed (2012) 0.78
Application of complementary luminescent and fluorescent imaging techniques to visualize nuclear and cytoplasmic Ca²⁺ signalling during the in vivo differentiation of slow muscle cells in zebrafish embryos under normal and dystrophic conditions. Clin Exp Pharmacol Physiol (2012) 0.78
Targeted mutagenesis of zebrafish: use of zinc finger nucleases. Birth Defects Res C Embryo Today (2011) 0.78
Effects of kiwifruit extracts on colonic gene and protein expression levels in IL-10 gene-deficient mice. Br J Nutr (2011) 0.78
Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay. Sultan Qaboos Univ Med J (2013) 0.77
Modeling human disease by gene targeting. Methods Cell Biol (2004) 0.77
Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report. Case Rep Genet (2011) 0.77
Array comparative genomic hybridization identifies a heterozygous deletion of the entire KCNJ2 gene as a cause of sudden cardiac death. Circ Cardiovasc Genet (2014) 0.77
In vivo testing of microRNA-mediated gene knockdown in zebrafish. J Biomed Biotechnol (2012) 0.77
Zebrafish dystrophin and utrophin genes: dissecting transcriptional expression during embryonic development. Int J Mol Med (2011) 0.76
Whole organism approaches to chemical genomics: the promising role of zebrafish (Danio rerio). Expert Opin Drug Discov (2007) 0.76
Pure duplication of the distal long arm of chromosome 15 with ebstein anomaly and clavicular anomaly. Case Rep Genet (2011) 0.76
Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes. Case Rep Genet (2013) 0.76
Fluorescent function-spacer-lipid construct labelling allows for real-time in vivo imaging of cell migration and behaviour in zebrafish (Danio rerio). J Fluoresc (2012) 0.76
Distal 5q deletion with associated parietal foramina. Clin Dysmorphol (2010) 0.75
A rare chromosome 3 imbalance and its clinical implications. Case Rep Pediatr (2012) 0.75
A novel 2.3 mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilities. Case Rep Pediatr (2012) 0.75
Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene. Ups J Med Sci (2015) 0.75
Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay. Sultan Qaboos Univ Med J (2013) 0.75
The SCN5A gene in Brugada syndrome: mutations, variants, missense and nonsense. What's a clinician to do? Heart Rhythm (2009) 0.75
Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis. Sultan Qaboos Univ Med J (2013) 0.75
Diagnostic genetics at a distance: von hippel-lindau disease and a novel mutation. Genet Res Int (2013) 0.75
Microarrays--analysis of signaling pathways. Methods Mol Med (2008) 0.75
Zebrafish: at the nexus of functional and chemical genomics. Biotechnol Genet Eng Rev (2006) 0.75
Indolent medullary thyroid cancer with a RET proto-oncogene Cys618Phe mutation presenting as sporadic unilateral pheochromocytoma in a 55-year-old Korean woman. Thyroid (2011) 0.75