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Clinical Research

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Our Resource Library

We maintain a growing Resource Library designed to support clinicians at the point of care. This library brings together peer‑reviewed literature, clinical reviews, consensus guidance, and practical tools relevant to 16p11.2 genetic variances.

Resources you will find include:

  • Summaries of key research findings translated into clinical takeaways
  • Primary care and specialty considerations across the lifespan
  • Links to foundational references such as GeneReviews and major cohort studies
  • Educational materials to support conversations with families

This library reflects our Phase 1 work and will continue to expand as new evidence emerges and clinical guidance evolves. We aim to make it easier for clinicians to access reliable, up‑to‑date information without having to search across multiple platforms.

Resource Library

How Resources are Added

Many of the resources in this library were brought to us by:

  • Parents and caregivers
  • Scientists and researchers
  • Clinicians across specialties
  • Advocacy and support organizations

We curate the library for relevance and clarity, but final interpretation is the responsibility of the reader.

If you believe a resource is outdated or misleading, or if you want to suggest a resource, please let us know.

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