A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data

Overview of attention for article published in Circulation: Genomic and Precision Medicine, March 2018

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RT @Bmhelm: Always like this type of work, genetics of CHD, lots of critiques: https://t.co/Ms2epHAxcc: no prior CNV data, no clinical ge…

20 Jun 2018

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Always like this type of work, genetics of CHD, lots of critiques: https://t.co/Ms2epHAxcc: no prior CNV data, no clinical genetics evals for some of those mutations (e.g. PTPN11/TFAP2B), breakdown of yield between isolated CHD vs. CHD+ECA? @JamesRPriest

29 Mar 2018

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RT @JamesRPriestMD: Today in @Circ_Gen-Szot & co. from .@VictorChangInst make a great case for #exome as the 1st line genetic diagnostic in…

21 Mar 2018

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RT @JamesRPriestMD: Today in @Circ_Gen-Szot & co. from .@VictorChangInst make a great case for #exome as the 1st line genetic diagnostic in…

21 Mar 2018

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