Concepedia

Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients

Aparna Ganapathy, Avshesh Mishra, Megha Rani Soni, Priyanka Kumar, Mukunth Sadagopan, Anil Kanthi, Irene Rosetta Pia Patric, Sobha George, Aparajit Sridharan, T. C. Thyagarajan,

Journal of Neurology · 2019 · 39 citations · 32 references

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32

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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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang, Donna M. Muzny, Fan Xia et al. · JAMA · 2014 · 1.4K citations

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Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola, Megan T. Cho et al. · Genetics in Medicine · 2015 · 1.1K citations · Full text

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Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Hane Lee, Joshua L. Deignan, Naghmeh Dorrani et al. · JAMA · 2014 · 981 citations · Full text

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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle et al. · Nature Genetics · 2013 · 694 citations · Full text

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