Genetics & Newborn Screening — Med-Peds Resources

Peer-reviewed references for genetic disease workup and the universal newborn screening (NBS) panel.

Condition-by-condition references

GeneReviews (NCBI Bookshelf) — peer-reviewed, expert-authored disease-by-disease primers; updated continuously. The standard genetics reference.
OMIM — Online Mendelian Inheritance in Man (Johns Hopkins) — curated catalog of human genes and genetic disorders; the canonical phenotype-genotype reference.
Genetics Home Reference / MedlinePlus Genetics — NLM consumer-level genetics reference for patient handouts.
Orphanet — Rare Diseases — European rare-disease portal with expert-reviewed disease summaries.

ClinVar (NCBI) — public archive of variant interpretations submitted by clinical labs; cross-references to literature.
ClinGen — Clinical Genome Resource — NIH-funded; gene-disease validity, dosage sensitivity, and variant curation.
ACMG Standards for Variant Interpretation (Richards 2015, Genet Med) — the canonical 5-tier (benign → pathogenic) variant classification framework.
Genetic Testing Registry (NCBI) — directory of genetic tests by gene, condition, or lab.

ACMG Clinical Practice Resources — American College of Medical Genetics and Genomics practice resources.
AAP Committee on Genetics — Policy Statements — pediatric genetics policy and clinical reports.

Baby’s First Test — HRSA/ACMG public-facing site with state-by-state NBS panels and condition summaries.
Recommended Uniform Screening Panel (RUSP, HRSA) — federal recommended NBS conditions; states pick from this list.
ACMG ACT Sheets & Confirmatory Algorithms — per-condition follow-up action sheets for positive NBS results.
Critical Congenital Heart Disease (CCHD) screening algorithm — pulse-oximetry NBS protocol; AAP-endorsed.
EHDI — Early Hearing Detection and Intervention — universal newborn hearing screening program; 1-3-6 framework.

Possum / FaceMatch (clinical, subscription) — dysmorphology pattern recognition; institutional access common.
Face2Gene (clinician) — AI-assisted dysmorphology pattern recognition; clinician-only registration.

My Family Health Portrait (Surgeon General) — structured family history collection tool with CDC pedigree rendering.