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keywords
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Molecular diagnostics, exome sequencing, array-CGH, CNV detection, monogenic diabetes
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overview
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My main area of interest is the development and implementation of novel molecular technologies to the diagnosis of genetic disorders. Our laboratory provides molecular testing services for a wide variety of indications, including neurodevelopmental and congenital malformation disorders, hereditary forms of cancer and endocrine disorders. We use next-generation sequencing (NGS) techniques, including exome sequencing, as well as algorithms to infer copy number variations from NGS data, for the identification of disease-causing variants.
In addition to the implementation of clinical tests, I have an active interest in performing genotype-phenotype correlation studies to better delineate the mutational and phenotypic spectrum of genetic disorders, understanding the underlying molecular mechanisms for novel mutations identified through clinical testing as well as identifying potential novel disease genes. In the past few years, my most significant research contributions stem from my clinical work in the area of monogenic disorders of insulin secretion, specifically monogenic diabetes and congenital hyperinsulinism.
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