Thalia Bei

机构：Burning Rock Biotech (China)

发表论文 19 篇 · 总被引 1942 次 · h-index 14

代表论文

• Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD (2007 · European Journal of Human Genetics · 被引 490)
• Mutations in Regulatory Subunit Type 1A of Cyclic Adenosine 5′-Monophosphate-Dependent Protein Kinase ( PRKAR1A ): Phenotype Analysis in 353 Patients and 80 Different Genotypes (2009 · The Journal of Clinical Endocrinology & Metabolism · 被引 443)
• Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity. (2003 · PubMed · 被引 253)
• Genetics of Carney Triad: Recurrent Losses at Chromosome 1 but Lack of Germline Mutations in Genes Associated with Paragangliomas and Gastrointestinal Stromal Tumors (2007 · The Journal of Clinical Endocrinology & Metabolism · 被引 151)
• Loss of Expression of Protein Kinase A Regulatory Subunit 1α in Pigmented Epithelioid Melanocytoma But Not in Melanoma or Other Melanocytic Lesions (2007 · The American Journal of Surgical Pathology · 被引 132)
• Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000–2005 (2005 · Clinical Genetics · 被引 98)