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BELMONT, JOHN

One or more keywords matched the following items that are connected to BELMONT, JOHN

Item Type	Name
Academic Article	Genome-wide linkage disequilibrium and haplotype maps.
Academic Article	Strategic approaches to unraveling genetic causes of cardiovascular diseases.
Academic Article	Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay.
Academic Article	Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
Academic Article	Clan genomics and the complex architecture of human disease.
Academic Article	Genome-wide detection and characterization of positive selection in human populations.
Academic Article	Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America.
Academic Article	Analysis of East Asia genetic substructure using genome-wide SNP arrays.
Academic Article	Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).
Academic Article	The futility of genomic counseling: essential role of electronic health records.
Academic Article	An ancestry informative marker set for determining continental origin: validation and extension using human genome diversity panels.
Academic Article	Assessing the utility of whole-genome amplified serum DNA for array-based high throughput genotyping.
Academic Article	Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
Academic Article	SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.
Academic Article	High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping.
Academic Article	A genomewide single-nucleotide-polymorphism panel for Mexican American admixture mapping.
Academic Article	"Personalizing" academic medicine: opportunities and challenges in implementing genomic profiling.
Academic Article	NPHP4 variants are associated with pleiotropic heart malformations.
Academic Article	Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
Concept	Genome, Human
Concept	Genome-Wide Association Study
Concept	Genome
Academic Article	A Genome-Wide Screen for Large-Effect Alloimmunization Susceptibility Loci among Red Blood Cell Transfusion Recipients with Sickle Cell Disease.
Academic Article	A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
Academic Article	Recommendations for the integration of genomics into clinical practice.
Academic Article	The ethics of conducting molecular autopsies in cases of sudden death in the young.
Academic Article	Toward clinical genomics in everyday medicine: perspectives and recommendations.
Academic Article	Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.
Academic Article	Lessons learned from additional research analyses of unsolved clinical exome cases.
Academic Article	Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Academic Article	A genome-wide association study of LCH identifies a variant in SMAD6 associated with susceptibility.
Academic Article	Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
Academic Article	Genetic architecture of laterality defects revealed by whole exome sequencing.
Academic Article	Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.
Grant	MOLECULAR GENETICS OF MAMMALIAN BARREN (BRRN 1)
Grant	Novel Genomic Disorders Causing Cardiovascular Malformations
Grant	Genome Wide Association Study for Hypoplastic Left Heart and Related Defects
Academic Article	Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.
Academic Article	A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Academic Article	Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy.
Academic Article	Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
Academic Article	Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.
Concept	Whole Genome Sequencing
Academic Article	The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic.
Academic Article	Genetic variation in the body mass index of adult survivors of childhood acute lymphoblastic leukemia: A report from the Childhood Cancer Survivor Study and the St. Jude Lifetime Cohort.
Academic Article	Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
Academic Article	Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
Academic Article	Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases.
Academic Article	Further Considerations on the Value of Whole-Genome Sequencing in Critically Ill Infants-Reply.
Academic Article	Best practices for the interpretation and reporting of clinical whole genome sequencing.
Academic Article	Recommendations for whole genome sequencing in diagnostics for rare diseases.
Academic Article	Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.

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Genome