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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	Strategic approaches to unraveling genetic causes of cardiovascular diseases.
Academic Article	BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
Academic Article	Genetic disorders with both hearing loss and cardiovascular abnormalities.
Academic Article	Heart defects in X-linked heterotaxy: evidence for a genetic interaction of Zic3 with the nodal signaling pathway.
Academic Article	A genomewide single-nucleotide-polymorphism panel for Mexican American admixture mapping.
Concept	Genetic Diseases, Inborn
Concept	Genetic Diseases, X-Linked
Concept	Eye Diseases, Hereditary
Academic Article	MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
Academic Article	Clinical bioinformatics: emergence of a new laboratory discipline.
Academic Article	Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
Academic Article	An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Academic Article	Lessons learned from additional research analyses of unsolved clinical exome cases.
Academic Article	Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Academic Article	Correction: Estimating the burden and economic impact of pediatric genetic disease.
Academic Article	Estimating the burden and economic impact of pediatric genetic disease.
Academic Article	A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Academic Article	Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.
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	The diagnostic trajectory of infants and children with clinical features of genetic disease.
Academic Article	Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases.
Academic Article	Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.

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Genetic Diseases Inborn