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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.OT2024

GREGoR: Accelerating Genomics for Rare Diseases

Moez Dawood, Ben Heavner, Marsha M. Wheeler +31

Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to…

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