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Andrea Zatkova, PhD. is a senior scientist (IIa) at the Department of Human Genetics of the Biomedical Research Center of the Slovak Academy of Sciences (BMC SAS). She studied genetics at the Faculty of Natural Sciences of Comenius the University in Bratislava (Slovakia), where she received an MSc. and in 2000 also her PhD. in Human Genetics. Her research activities mainly focused on the genetic bases of different rare genetic diseases, such as SMA, Alkaptonuria (AKU), DMD, NF1, CF, etc. In 2001-2008 she worked as Post Doc in the Laboratory of Medical Biology of Vienna Medical University, where she focused on different malignancies, including Hepatoblastoma and leukemias, as well as on mutation analysis in NF1 and mismatch repair genes. After her return to the home laboratory, she introduced NF1 genetic diagnostics in Slovakia and later her main focus became AKU. In 2010 she created and since then has been curating the international online database of HGD gene variants (http://hgddatabase.cvtisr.sk/), which summarizes all so far published HGD variants. Under her leadership, BMC SAS participated in the DevelopAKUre project (FP7-HEALTH-2012-INNOVATION-1 Grant 304985, - Clinical Development of Nitisinone for Alkaptonuria) that lead to the approval by EMA of nitisinone as the cure for AKU in adult patient. She was/is a principal investigator as well as a co-investigator of several national grants VEGA, APVV, AV MŠ SR and MZ SR. The results of her scientific work led to an authorship/co-authorship of about 40 scientific publications registered by Current Contents Connect and several other publications. She is a member of the European Society of Human Genetics and Slovak Society of Medical Genetics (Slovak Medical Society). SCOPUS database records 43 of her scientific publications with a citation count of 992 and an h-index of 17.
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论文共 60 篇作者统计合作学者相似作者
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Nature reviews Disease primersno. 1 (2024): 16-16
Metabolitesno. 6 (2024): 339-339
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 433-433
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EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 585-586
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Endocrine regulationsno. 1 (2023): 61-67
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作者统计
#Papers: 58
#Citation: 1372
H-Index: 23
G-Index: 36
Sociability: 6
Diversity: 3
Activity: 152
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