8 results on '"Jennifer Goldstein"'
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2. THE CLINGEN LYSOSOMAL DISEASES GENE CURATION EXPERT PANEL: APPLYING A STANDARDIZED CURATION FRAMEWORK TO ASSESS THE CLINICAL VALIDITY OF GENES FOR LYSOSOMAL DISEASE
3. The ClinGen Lysosomal Diseases Gene Curation Panel: Applying a standardized curation framework to assess the clinical validity of genes for lysosomal disease
4. O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience
5. P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
6. eP354: A systematic approach for applying disease-specific phenotype in clinical variant interpretation
7. eP137: Defining the disease entity for inherited retinal disorders – Lump or split?
8. Improving Pompe diagnostics through modification of the ACMG-AMP variant classification criteria by the Clinical Genome Resources (ClinGen) Lysosomal Storage Diseases Variant Curation Expert Panel
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