Publicatii Genetica

Publications

  1. Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives. A. Bejarano-Martin, R. Canal-Bedia, … M. Efrim-Budisteanu, A. Arghir, S.M. Papuc, … M. Posada de la Paz. Journal of Autism and Developmental Disorders, 2019, 10.1007/s10803-019-04303-0
  1. The role of recessive inheritance in early-onset epilepticencephalopathies: a combined whole-exome sequencing and copynumber study. Papuc SM … Anita Rauch. Eur J Hum Genet. 2019;27(3):408-421. doi: 10.1038/s41431-018-0299-8.
  2. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. Zweier M, …, Papuc SM, … Rauch A. Eur J Hum Genet. 2019; 27(5):747-759. doi: 10.1038/s41431-018-0331-z.
  3. Biophysical psychiatry-how computational neuroscience can help to understand the complex mechanisms of mental disorders. T. Maki-Marttunen, T. Kaufmann, ….. M. Efrim-Budisteanu, …. O.A. Andreassen. Frontiers in Psychiatry. 2019;10:534. doi: 10.3389/fpsyt.2019.00534
  4. Neurofibromatosis type 1 associated with moyamoya syndrome. Case report and review of the literature. Magdalena Budişteanu, Carmen Magdalena Burloiu, Sorina Mihaela Papuc, Ina Ofelia Focşa, Dan Riga, Sorin Riga, Aurora Arghir. Romanian Journal of Morphology and Embriology, 2019, 60(2): 713-716
  5. Treatment of Epilepsy Associated with Common Chromosomal Developmental Diseases. Magdalena Budisteanu, Claudia Jurca, Sorina Mihaela Papuc, Ina Focsa, Dan Riga, Sorin Riga, Alexandru Jurca,  Aurora Arghir Open Life Sciences
  1.  Floating-Harbor syndrome: presentation of the first romanian patient with a SRCAP mutation and review of the literature. Budisteanu M, Bögershausen N, Papuc SM, Moosa S, Thoenes M, Riga D, Arghir A, Wollnik B. Balkan Journal of Medical Genetics 2018, 21(1):83-86.
  2. Dental anomalies in Williams-Beuren syndrome. Budisteanu M, Papuc SM, Riga D, Riga S, Arghir A. International Journal of Medical Dentistry. 2018, 22(3):243-246.
  1. De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation. Budisteanu M, Papuc SM, Tutulan-Cunita AC, Budisteanu B, Weis E, Arghir A, Zechner U, Bartsch O. Clinical Dysmorphology, 2017; 26(3):187–189
  1. Lalli M.A., Jang J., Park J.C., Wang Y., Guzman E., Zhou H., Audouard M., Bridges D., Tovar K.R., Papuc S.M., Tutulan-Cunita A.C., Huang Y., Budisteanu M., Arghir A., Kosik K.S. – Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways, Hum. Mol. Genet. (IF 5,98), 2016;25(7):1294-306. doi: 10.1093/hmg/ddw010. Epub 2016 Jan 10; PMID: 26755828;
  1. Papuc S.M., Hackmann K., Andrieux J., Vincent-Delorme C., Budisteanu M., Arghir A., Schrock E., Tutulan-Cunita A.C., Di Donato N.- Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities, Eur. J. Med. Genet.  (IF 1,81),  2015;58(5): 319–323; PMID: 25858704;
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