Pamela Ajuyah
Sydney, NSW, Australia
Last Updated: 09/26/2026
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Found 28 publications
criTRia: A Classification System and Evidence Criteria for Tandem Repeat Locus-Disease Relationships.
Journal: medRxiv : the preprint server for health sciences
Published: July 17, 2026
Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen.
Journal: Nature reviews. Nephrology
Published: May 01, 2026
Integrated germline and somatic molecular profiling to detect cancer predisposition has a high clinical impact in poor-prognosis paediatric cancer.
Journal: Clinical cancer research : an official journal of the American Association for Cancer Research
Published: October 08, 2025
Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer.
Journal: Clinical cancer research : an official journal of the American Association for Cancer Research
Published: October 08, 2025
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 09, 2025
Gene-Disease Relationships in Kidney Genetics.
Journal: Seminars in nephrology
Published: July 16, 2025
Advancing sarcoma diagnostics with expanded DNA methylation-based classification.
Journal: medRxiv : the preprint server for health sciences
Published: July 09, 2025
Comprehensive Multiplatform Tyrosine Kinase Profiling Reveals Novel Actionable FGFR Aberrations across Sarcomas Affecting the Young.
Journal: Molecular cancer therapeutics
Published: July 01, 2025
Comprehensive multi-platform tyrosine kinase profiling reveals novel actionable FGFR aberrations across sarcomas affecting the young.
Journal: Molecular cancer therapeutics
Published: July 01, 2025
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.
Journal: Genetics in medicine open
Published: March 19, 2025
Germline analysis of an international cohort of pediatric diffuse midline glioma patients.
Journal: Neuro-oncology
Published: March 12, 2025
Last Updated: 09/26/2026