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Sorina Mihaela Papuc

Observed names: M. Papuc, Mihaela Papuc, Mihaela S. Papuc, Mihaela Sorina Papuc, Papuc, Sorina Mihaela, S. Mihaela Papuc, S. Papuc, S.M. Papuc, SM Papuc, Sorina M. Papuc, Sorina Papuc, Sorina-Mihaela Papuc, Sorina Mihaela Papuc
Observed institutions: Titu Maiorescu University, University of Zurich, National Institute of Pathology, Institutul National Victor Babes, University Children's Hospital Zurich, Spitalul Clinic de Psihiatrie Alexandru Obregia
ORCID: 0000-0002-1352-3535
Observed ORCID: 0000-0002-1352-3535
OpenAlex ID: A5008647205
Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives
2019 · Álvaro Bejarano-Martín, Ricardo Canal-Bedia, et al. · Journal of Autism and Developmental Disorders · 90
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Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways
2016 · Matthew A. Lalli, Jiwon Jang, et al. · Human Molecular Genetics · 79
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy
2017 · Barbara Plecko, Markus Zweier, et al. · Journal of Medical Genetics · 78
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
2019 · Deciphering Developmental Disorders (DDD) Study, Markus Zweier, et al. · European Journal of Human Genetics · 75
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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
2018 · Sorina M. Papuc, Lucia Abela, et al. · European Journal of Human Genetics · 75
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Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency
2017 · Lucia Abela, Ronen Spiegel, et al. · PLoS ONE · 52
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Re-emerging concepts of immune dysregulation in autism spectrum disorders
2022 · Alina Erbescu, Sorina Mihaela Papuc, et al. · Frontiers in Psychiatry · 50
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Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome
2015 · Michael Bauer, Uwe Kölsch, et al. · Journal of Clinical Immunology · 50
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N8‐acetylspermidine as a potential plasma biomarker for Snyder‐Robinson syndrome identified by clinical metabolomics
2015 · Lucia Abela, Luke Simmons, et al. · Journal of Inherited Metabolic Disease · 44
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Infantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A Gene
2014 · Alessandra Baumer, Heinrich Sticht, et al. · Neuropediatrics · 36
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3p Interstitial Deletion: Novel Case Report and Review
2012 · Andreea Cristina Ţuţulan-Cuniţă, Sorina Mihaela Papuc, et al. · Journal of Child Neurology · 31
The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients
2021 · Magdalena Budisteanu, Sorina Mihaela Papuc, et al. · Genes · 25
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The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies
2016 · Déborah Mathis, Lucia Abela, et al. · Journal of Inherited Metabolic Disease · 24
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Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review
2021 · Aurora Arghir, Roxana Popescu, et al. · Genes · 18
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Predictive factors in early onset schizophrenia
2020 · Magdalena Budisteanu, Emanuela Andrei, et al. · Experimental and Therapeutic Medicine · 18
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Multidisciplinary approach in children with autism spectrum disorder
2021 · A.C. Stanciu, F. Rad, et al. · European Psychiatry · 13
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Treatment of Epilepsy Associated with Common Chromosomal Developmental Diseases
2020 · Magdalena Budisteanu, Claudia Jurca, et al. · Open Life Sciences · 13
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Novel clinical finding in MECP2 duplication syndrome
2011 · Magdalena Budisteanu, Sorina Mihaela Papuc, et al. · European Child & Adolescent Psychiatry · 13
Floating-Harbor syndrome: Presentation of the first Romanian patient with a SRCAP mutation and review of the literature
2018 · M Budisteanu, N Bögershausen, et al. · Balkan Journal of Medical Genetics · 11
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Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities
2015 · Sorina M. Papuc, Karl Hackmann, et al. · European Journal of Medical Genetics · 11
Determinants of satisfaction with the detection process of autism in Europe: Results from the ASDEU study
2022 · Quentin Guillon, Sophie Baduel, et al. · Autism · 9
Neurofibromatosis type 1 associated with moyamoya syndrome. Case report and review of the literature.
2019 · Magdalena Budişteanu, Carmen Magdalena Burloiu, et al. · PubMed · 9
Prevalence study of autism spectrum disorder in Romania
2017 · Magdalena Budisteanu, Florina Rad, et al. · European Journal of Paediatric Neurology · 9
Correction to: Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives
2019 · Álvaro Bejarano-Martín, Ricardo Canal-Bedia, et al. · Journal of Autism and Developmental Disorders · 7
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Review of structural neuroimaging and genetic findings in autism spectrum disorder – a clinical perspective
2024 · Magdalena Budisteanu, Sorina Mihaela Papuc, et al. · Reviews in the Neurosciences · 5
Works count: 61
Citation count: 883
H-index: 15
I10-index: 20
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