Concepedia

Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis

Olivia D’Annibale, Erik Koppes, Ahmad Alodaib, Catherine Kochersperger, Anuradha Karunanidhi, Al‐Walid Mohsen, Jerry Vockley

Molecular Genetics and Metabolism · 2021 · 10 citations · 39 references

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39

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

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Genome engineering using the CRISPR-Cas9 system

F. Ann Ran, Patrick D. Hsu, Jason Wright et al. · Nature Protocols · 2013 · 11.7K citations · Full text

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ClinVar: improving access to variant interpretations and supporting evidence

Melissa Landrum, Jennifer M. Lee, Mark J. Benson et al. · Nucleic Acids Research · 2017 · 4.5K citations · Full text

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ClinVar: public archive of relationships among sequence variation and human phenotype

Melissa Landrum, Jennifer M. Lee, Wonhee Jang et al. · Nucleic Acids Research · 2013 · 3.7K citations · Full text

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CRISPOR: intuitive guide selection for CRISPR/Cas9 genome editing experiments and screens

Jean‐Paul Concordet, Maximilian Haeussler · Nucleic Acids Research · 2018 · 2.5K citations · Full text

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