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Author

Amber Waddell

Observed name: Waddell, Amber
ORCID: 0009-0007-0138-2054
Observed ORCID: 0009-0007-0138-2054
OpenAlex ID: A5111363312
Genes Associated With Hypertrophic Cardiomyopathy
2025 · Sophie Hespe, Amber Waddell, et al. · Journal of the American College of Cardiology · 79
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Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy
2025 · Sophie Hespe, Emma S. Singer, et al. · Circulation Genomic and Precision Medicine · 3
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Developing a scoring system for gene curation prioritization in lysosomal diseases
2024 · Matheus Vernet Machado Bressan Wilke, Jennifer Goldstein, et al. · Molecular Genetics and Metabolism · 1
Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework
2024 · Emily Groopman, Shruthi Mohan, et al. · Molecular Genetics and Metabolism · 1
P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*
2024 · Shruthi Mohan, Renee Geck, et al. · Genetics in Medicine Open · 1
Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine
2025 · Jennifer L. Goldstein, Melanie Lacaria, et al. · Molecular Genetics and Metabolism
O43: Crowd-sourced annotation: A curation tool engaging future medical genomics professionals
2025 · Pepper St. Clair, Justyne Ross, et al. · Genetics in Medicine Open
Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework
2024 · Goldstein, Jennifer, Mao, Rong, et al. · Carolina Digital Repository (University of North Carolina at Chapel Hill)
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Development of a scoring system to define lysosomal diseases
2024 · Tatiana Yuzyuk, Matheus Vernet Machado Bressan Wilk, et al. · Molecular Genetics and Metabolism
Development of a scoring system to define lysosomal disease
2024 · Matheus V. Wilke, Jennifer Goldstein, et al. · Molecular Genetics and Metabolism
P252: Development of a scoring system to define lysosomal diseases
2024 · Matheus Wilke, Jenny Goldstein, et al. · Genetics in Medicine Open
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O39: The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s guidance on classification of IDUA variants for mucopolysaccharidosis type I
2024 · Jenny Goldstein, Amber Waddell, et al. · Genetics in Medicine Open
P150: ClinGen hereditary cardiovascular disease gene curation expert panel: reappraisal of the validity of hypertrophic cardiomyopathy genes*
2024 · Amber Waddell, Sophie Hespe, et al. · Genetics in Medicine Open
Assessment of Genes Involved in Lysosomal Diseases Using the Clingen Clinical Validity Framework
2024 · Emily Groopman, Shruthi Mohan, et al. · SSRN Electronic Journal
Enhancing variant curation guidelines to optimize clinical genetic testing for ABCA4 retinopathies utilizing the ClinGen framework
2024 · Lee, Kristy, Waddell, Amber, et al. · Ghent University Academic Bibliography (Ghent University)
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Works count: 15
Citation count: 85
H-index: 2
I10-index: 1
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