文章名稱(chēng)引用次數(shù)

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• Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform7
• Effective communication in the era of precision medicine: A pilot intervention with low health literacy patients to improve genetic counseling communication7
• Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?6
• Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder6
• Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping6
• Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors5