Last Updated: 09/26/2026
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Found 28 publications
Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.
Journal: HGG advances
Published: November 02, 2025
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Journal: American journal of human genetics
Published: April 08, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Journal: medRxiv : the preprint server for health sciences
Published: March 17, 2025
Advancing precision care in pregnancy through a treatable fetal findings list.
Journal: American journal of human genetics
Published: September 25, 2024
Routine Prenatal cfDNA Screening for Autosomal Dominant Single-Gene Conditions.
Journal: Clinical chemistry
Published: June 12, 2024
Lethal phenotypes in Mendelian disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 05, 2024
Lethal phenotypes in Mendelian disorders.
Journal: medRxiv : the preprint server for health sciences
Published: January 23, 2024
High-Resolution and Noninvasive Fetal Exome Screening.
Journal: The New England journal of medicine
Published: November 22, 2023
Improving prenatal diagnosis through standards and aggregation.
Journal: Prenatal diagnosis
Published: October 26, 2023
The Human Phenotype Ontology in 2024: phenotypes around the world.
Journal: Nucleic acids research
Published: September 13, 2023
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Journal: American journal of human genetics
Published: April 02, 2023
Last Updated: 09/26/2026