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Ludmila Matyakhina

发表论文 58 篇 · 总被引 3293 次 · h-index 23

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)
  • A cross-disorder dosage sensitivity map of the human genome (2022 · Cell · 被引 382)
  • A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia (2006 · Nature Genetics · 被引 355)
  • A Mouse Model for the Carney Complex Tumor Syndrome Develops Neoplasia in Cyclic AMP–Responsive Tissues (2005 · Cancer Research · 被引 175)
  • 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 152)
  • Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort (2014 · Genetics in Medicine · 被引 149)