Ludmila Matyakhina
Publications by Year
Research Areas
Cardiac tumors and thrombi, Sarcoma Diagnosis and Treatment, Genomic variations and chromosomal abnormalities, Peptidase Inhibition and Analysis, Advanced Breast Cancer Therapies
Most-Cited Works
- → 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)482 cited
- → A cross-disorder dosage sensitivity map of the human genome(2022)348 cited
- → A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia(2006)343 cited
- 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)
- → A Mouse Model for the Carney Complex Tumor Syndrome Develops Neoplasia in Cyclic AMP–Responsive Tissues(2005)171 cited
- → Genetics of Carney Triad: Recurrent Losses at Chromosome 1 but Lack of Germline Mutations in Genes Associated with Paragangliomas and Gastrointestinal Stromal Tumors(2007)150 cited
- → Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort(2014)143 cited
- → Gene array analysis of macronodular adrenal hyperplasia confirms clinical heterogeneity and identifies several candidate genes as molecular mediators(2004)130 cited
- → Chromosome 2 (2p16) abnormalities in Carney complex tumours(2003)128 cited
- → Cyclical Cushing Syndrome Presenting in Infancy: An Early Form of Primary Pigmented Nodular Adrenocortical Disease, or a New Entity?(2004)115 cited