Concepedia

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

Jérémie Mortreux, Juliette Bacquet, Anthony Boyer, Emilie Alazard, R. Bellance, Anna‐Gaëlle Giguet‐Valard, Mathieu Cérino, Martin Krahn, Frédérique Audic, B. Chabrol,

Journal of Human Genetics · 2019 · 13 citations · 40 references

DOI

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References

40

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

, , +17

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

, , +17

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Helen V. Firth, Shola M. Richards, A. Paul Bevan et al. · The American Journal of Human Genetics · 2009 · 2.1K citations · Full text

, , +14

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Erin Rooney Riggs, Erica Andersen, Athena M. Cherry et al. · Genetics in Medicine · 2019 · 1.8K citations · Full text

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The Database of Genomic Variants: a curated collection of structural variation in the human genome

Jeffrey R. MacDonald, Robert Ziman, Ryan K. C. Yuen et al. · Nucleic Acids Research · 2013 · 1.4K citations · Full text

, , +17