Concepedia

Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders

Toshiyuki Yamamoto, Taichi Imaizumi, Keiko Yamamoto‐Shimojima, Yongping Lu, Tomoe Yanagishita, Shino Shimada, Pin Fee Chong, Ryutaro Kira, Riyo Ueda, Akihiko Ishiyama,

Brain and Development · 2019 · 63 citations · 32 references

DOI

Concepts

References

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

, , +17

De novo mutations in epileptic encephalopathies

Nature · 2013 · 1.6K citations · Full text

, , +12

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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Large-scale discovery of novel genetic causes of developmental disorders

Nature · 2014 · 1.2K citations · Full text

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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

Dalila Pinto, Elsa Delaby, Daniele Merico et al. · The American Journal of Human Genetics · 2014 · 1K citations · Full text

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