Elevated Leukodystrophy Incidence Predicted From Genomics Databases

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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Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K 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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Human Gene Mutation Database (HGMD^®): 2003 update

Peter D. Stenson, Edward V. Ball, Matthew Mort et al. · Human Mutation · 2003 · 1.9K citations

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The burden of inherited leukodystrophies in children

Joshua L. Bonkowsky, Clint Nelson, Jessica Kingston et al. · Neurology · 2010 · 202 citations · Full text

Medicine, Child Health, Pediatrics +12