Genes Associated With Hypertrophic Cardiomyopathy
2025 · Journal of the American College of Cardiology · 44 citations
https://doi.org/10.1016/j.jacc.2024.12.010
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Amber Waddell
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Amber Waddell is an academic researcher. The author has contributed to research in topics: Lysosomal Storage Disorders Research & Cardiomyopathy and Myosin Studies & Autophagy in Disease and Therapy. The author has an h-index of 3, co-authored 16 publications.
ORCID: 0009-0007-0138-2054Papers by this author
worksP008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*
2024 · Genetics in Medicine Open · 1 citations
https://doi.org/10.1016/j.gimo.2024.100885
P252: Development of a scoring system to define lysosomal diseases
2024 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2024.101148
O39: The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s guidance on classification of IDUA variants for mucopolysaccharidosis type I
2024 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2024.100877
O43: Crowd-sourced annotation: A curation tool engaging future medical genomics professionals
2025 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2025.102353
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