{"id":473,"date":"2020-08-10T07:09:45","date_gmt":"2020-08-10T07:09:45","guid":{"rendered":"http:\/\/ivb.ro\/?page_id=473"},"modified":"2025-07-15T08:02:31","modified_gmt":"2025-07-15T08:02:31","slug":"publicatii-genetica","status":"publish","type":"page","link":"https:\/\/www.ivb.ro\/en\/publicatii-genetica","title":{"rendered":"Publicatii Genetica"},"content":{"rendered":"
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Publications<\/h4>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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  1. Papuc SM, Glangher A, Erbescu A, Arsene OT, Arghir A, Budisteanu M. A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants. Italian Journal of Pediatrics.<\/em> 2024;50(1):193. DOI: 1186\/s13052-024-01766-y <\/a><\/span><\/li>
  2. Tissink EP, Shadrin AA, van der Meer D, Parker N, Hindley G, Roelfs D, Frei O, Fan CC, Nagel M, N\u00e6rland T, Budisteanu M, Djurovic S, Westlye LT, van den Heuvel MP, Posthuma D, Kaufmann T, Dale AM, Andreassen OA. Abundant pleiotropy across neuroimaging modalities identified through a multivariate genome-wide association study. Nat Commun<\/em>. 2024;15(1):2655. DOI:10.1038\/s41467-024-46817-4<\/span><\/li>
  3. SM Papuc, A Erbescu, A Arghir, M Budisteanu et al. Review of structural neuroimaging and genetic findings in autism spectrum disorder \u2013 a clinical perspective. Reviews in the Neurosciences<\/em>. 2024;36(3):295-314. DOI:10.1515\/revneuro-2024-0106<\/span><\/li><\/ol><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t
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    1. Khan S, Foc\u0219a IO, Budi\u0219teanu M, Stoica C, Nedelea F, Boh\u00eel\u021bea L, Caba L, Butnariu L, P\u00e2nzaru M, Rusu C, Jurc\u0103 C, Chirita-Emandi A, B\u0103nescu C, Abbas W, Sadeghpour A, Baig SM, B\u0103lgr\u0103dean M, Davis EE. Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants. American Journal of Medical Genetics Part A<\/em> 2023;191A:2376\u20132391. DOI:10.1002\/ajmg.a.63322<\/a><\/span><\/li>
    2. Papuc SM, Erbescu A, Glangher A, Streata I, Riza A-L, Budisteanu M, Arghir A Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome. 2023;14:327. DOI:10.3390\/genes14020327<\/a><\/span><\/li>
    3. Sigrun Hope, Aihua Lin, Shahram Bahrami, Linn Rodevand, Oleksandr Frei, Saira J. Hussain, Weiqiu Cheng, Guy Hindley, Heidi Nag, Line Beate Ulstein, Eva Malt, Magdalena Efrim-Budisteanu, Alexey A. Shadrin, Kevin O`Connell, Anders M. Dale, Srdjan Djurovic, Terje N\u00e6rland, Ole A. Andreassen Bidirectional genetic overlap between autism spectrum disorder and cognitive traits. Transl Psychiatry<\/em>. 2023;13:295. DOI:10.1038\/s41398-023-02563-7<\/a><\/span><\/li><\/ol><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t
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      1. Erbescu A, Papuc SM, Budisteanu M, Arghir A, Neagu M. Re-emerging concepts of immune dysregulation in autism spectrum disorders. Front Psychiatry<\/em>. 2022;13:1006612. DOI: 10.3389\/fpsyt.2022.1006612.<\/span><\/li>
      2. Budisteanu M, Papuc SM, Erbescu A, Iliescu C, Dobre M, Barca D, Tarta\u2011Arsene O, Motoescu C, Dica A, Sandu C, Anghelescu C, Craiu D, Arghir A. Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania. Experimental and Therapeutic Medicine<\/em>. 2022;23(1):101. DOI: 10.3892\/etm.2021.11024<\/span><\/li>
      3. \u021au\u021bulan-Cuni\u021b\u0103 A, Pavel AG, Dimos L, Nedelea M, Ursuleanu A, Neac\u0219u AT, Budi\u0219teanu M, Stambouli D. Phenotypic variability of 17q12 microdeletion syndrome – Three cases and review of literature. Balkan J Med Genet<\/em>. 2022;24(2):71-82. DOI:10.2478\/bjmg-2021-0025.<\/span><\/li>
      4. Papuc SM, Budisteanu M, Erbescu A, Ionescu V, Iliescu C, Sandu C, Arghir A. Novel DCX pathogenic variant in a girl with subcortical band heterotopia. Rev Romana Med Lab<\/em>. 2022;30(3):345-51. DOI: 10.2478\/rrlm-2022-0031<\/span><\/li>
      5. Linca F, Budisteanu M, Popovici DV, Cucu N. The moderating role of emotional regulation on the relationship between school results and personal characteristics of pupils with attention deficit\/hyperactivity disorder. Children Basel.<\/em> 2022;27;9(11):1637. DOI:10.3390\/children9111637.<\/span><\/li><\/ol><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t
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        1. Budisteanu M, Papuc SM, Erbescu A, Iliescu C, Dobre M, Barca D, Tarta\u2011Arsene O, Motoescu C, Dica A, Sandu C, Anghelescu C, Craiu D, Arghir A. Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania. Experimental and Therapeutic Medicine<\/em>. 2022;23(1):101. DOI: 10.3892\/etm.2021.11024<\/span><\/li>
        2. \u021au\u021bulan-Cuni\u021b\u0103 A, Pavel AG, Dimos L, Nedelea M, Ursuleanu A, Neac\u0219u AT, Budi\u0219teanu M, Stambouli D. Phenotypic variability of 17q12 microdeletion syndrome – Three cases and review of literature. Balkan J Med Genet<\/em>. 2022;24(2):71-82. DOI:10.2478\/bjmg-2021-0025.<\/span><\/li>
        3. Papuc SM, Budisteanu M, Erbescu A, Ionescu V, Iliescu C, Sandu C, Arghir A. Novel DCX pathogenic variant in a girl with subcortical band heterotopia. Rev Romana Med Lab<\/em>. 2022;30(3):345-51. DOI: 10.2478\/rrlm-2022-0031<\/span><\/li>
        4. Linca F, Budisteanu M, Popovici DV, Cucu N. The moderating role of emotional regulation on the relationship between school results and personal characteristics of pupils with attention deficit\/hyperactivity disorder. Children Basel.<\/em> 2022;27;9(11):1637. DOI:10.3390\/children9111637.<\/span><\/li>
        5. Papuc SM, Erbescu A, Cisleanu D, Ozunu D, Enache C, Dumitru I, Lupoaia Andrus E, Gaman M, Popov VM, Dobre M, Stanca O, Angelescu S, Berbec N, Colita A, Vladareanu AM, Bumbea H, Arghir A. Delineation of Molecular Lesions in Acute Myeloid Leukemia Patients at Diagnosis: Integrated Next Generation Sequencing and Cytogenomic Studies. Genes (Basel).<\/em> 2021;12(6):846. DOI:10.3390\/genes12060846<\/span><\/li>
        6. Budisteanu M, Papuc SM, Streata I, Cucu M, Pirvu A, Serban-Sosoi S, Erbescu A, Andrei E, Iliescu C, Ioana D, Severin E, Ioana M, Arghir A. The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients.\u00a0Genes<\/em>. 2021; 12(7):1025. DOI:10.3390\/genes12071025<\/a><\/span><\/li>
        7. Arghir A, Popescu R, Resmerita I, Budisteanu M, Butnariu LI, Gorduza EV, Gramescu M, Panzaru MC, Papuc SM, Sireteanu A, Tutulan-Cunita A, Rusu C. Pallister\u2013Killian Syndrome versus Trisomy 12p\u2014A Clinical Study of 5 New Cases and a Literature Review.\u00a0Genes<\/em>. 2021; 12(6):811. DOI:10.3390\/genes12060811<\/span><\/li><\/ol><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t
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          1. Budisteanu M, Jurca C, Papuc SM, Focsa I, Riga D, Riga S, Jurca A, Arghir A. Treatment of Epilepsy Associated with Common Chromosomal Developmental Diseases. Open Life Sciences<\/em>. 2020;15(1):21-29. DOI:\u00a01515\/biol-2020-0003<\/span><\/li>
          2. Arghir A, Papuc SM, Tutulan-Cunita AC, Erbescu A, Loddo S, Genovese S, Ciocca L, Goldoni M, Piscopo C, Bernardini L, Novelli A, Budisteanu M. Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: case report and literature review. Clinical Case Reports<\/em>. 2020;9(1):314\u2013321. DOI:1002\/ccr3.3523.<\/span><\/li>
          3. Budisteanu M, Andrei E, Linca F, Hulea DS, Velicu AC, Mihailescu I, Riga S, Arghir A, Papuc SM, Sirbu CA, Mitrica M, Docu\u2011Axelerad A, Ghinescu MC, Dobrescu I, Rad F. Predictive factors in early onset schizophrenia. Experimental and Therapeutic Medicine.<\/em> 2020;20(6):210. DOI:10.3892\/etm.2020.9340<\/span><\/li>
          4. Sirbu CA, Budisteanu M, Falup-Pecurariu C. Monoclonal antibodies \u2014 a revolutionary therapy in multiple sclerosis. Polish Journal of Neurology and Neurosurgery<\/em> (Neurologia I Neurochirurgia Polska). 2020;54(1):21-27. DOI: 10.5603\/PJNNS.a2020.0008<\/span><\/li><\/ol><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t
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            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<\/span><\/li>\n<\/ol>\n
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              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.<\/span><\/li>\n
              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.<\/span><\/li>\n
              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<\/span><\/li>\n
              4. Neurofibromatosis type 1 associated with moyamoya syndrome. Case report and review of the literature. Magdalena Budi\u015fteanu, Carmen Magdalena Burloiu, Sorina Mihaela Papuc, Ina Ofelia Foc\u015fa, Dan Riga, Sorin Riga, Aurora Arghir. Romanian Journal of Morphology and Embriology, 2019, 60(2): 713-716<\/span><\/li>\n
              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,\u00a0 Aurora Arghir Open Life Sciences<\/span><\/li>\n<\/ol><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t
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                1. \u00a0Floating-Harbor syndrome: presentation of the first romanian patient with a SRCAP <\/em>mutation and review of the literature. Budisteanu M, B\u00f6gershausen N, Papuc SM, Moosa S, Thoenes M, Riga D, Arghir A, Wollnik B. Balkan Journal of Medical Genetics 2018, 21(1):83-86.<\/span><\/li>\n
                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.<\/span><\/li>\n<\/ol><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t
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                  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\u2013189<\/span><\/li>\n<\/ol><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t
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                    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<\/em> 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;<\/span><\/li>\n<\/ol><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t
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                      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<\/em> gene in patients with intellectual disability and behavior abnormalities, Eur. J. Med. Genet.\u00a0 (IF 1,81),\u00a0 2015;58(5): 319\u2013323; PMID: 25858704;<\/span><\/li>\n<\/ol><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"

                        Publicatii Publicatii 2024 Papuc SM, Glangher A, Erbescu A, Arsene OT, Arghir A, Budisteanu M. A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants. Italian Journal of Pediatrics. 2024;50(1):193. DOI: 1186\/s13052-024-01766-y Tissink EP, Shadrin AA, van der Meer D, Parker N, Hindley G, Roelfs… <\/p>","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"ngg_post_thumbnail":0,"footnotes":""},"class_list":["post-473","page","type-page","status-publish","hentry"],"yoast_head":"\nPublicatii Genetica - National Institute of Pathology Victor Babe\u015f - Bucharest<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.ivb.ro\/en\/publicatii-genetica\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Publicatii Genetica - National Institute of Pathology Victor Babe\u015f - Bucharest\" \/>\n<meta property=\"og:description\" content=\"Publicatii Publicatii 2024 Papuc SM, Glangher A, Erbescu A, Arsene OT, Arghir A, Budisteanu M. A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants. Italian Journal of Pediatrics. 2024;50(1):193. 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A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants. Italian Journal of Pediatrics. 2024;50(1):193. 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