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M. Talkowski

2 papers hereh-index 6130k citations261 works total

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  • q-bio.GN1
  • q-bio.OT1

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most citedBeyond the exome: what's next in diagnostic testing for Mendelian conditions

130 citations · 130 across the 1 of their papers we have counts for

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1 paper · 1 filter

q-bio.GN2023★ 130 cited

Beyond the exome: what's next in diagnostic testing for Mendelian conditions

Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha +21

Despite advances in clinical genetic testing, including the introduction of exome sequencing (ES), more than 50% of individuals with a suspected Mendelian condition lack a precise…

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