Assistant Professor(heuristic)

Genomic variations and chromosomal abnormalities · Genetics

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h-index7
i10-index7
Publications13
Citations718

Grants

No NSF/NIH grants on record.

Recent Public Signals

  1. New preprint: <i>PTPN1</i> -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance2026-04-01
  2. New paper: Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression (Genome Medicine)2024-12-18

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Data Freshness

  • Publications as of 2026-07-09
  • Grants as of 2026-09-06

Data may not be current

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