Sorina Mihaela Papuc

Affiliations

Medical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania.

Publications (15)

Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania.

Experimental and therapeutic medicine

Avec: Magdalena Budisteanu , Sorina Mihaela Papuc , Alina Erbescu , Catrinel Iliescu , Maria Dobre , Diana Barca , Oana Tarta-Arsene , Cristina Motoescu , Alice Dica , Carmen Sandu , Cristina Anghelescu , Dana Craiu , Aurora Arghir

Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome.

Genes

Avec: Sorina Mihaela Papuc , Alina Erbescu , Adelina Glangher , Ioana Streata , Anca-Lelia Riza , Magdalena Budisteanu , Aurora Arghir

Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review.

Clinical case reports

Avec: Aurora Arghir , Sorina Mihaela Papuc , Andreea-Cristina Tutulan-Cunita , Alina Erbescu , Sara Loddo , Silvia Genovese , Laura Ciocca , Marina Goldoni , Carmelo Piscopo , Laura Bernardini , Antonio Novelli , Magdalena Budisteanu

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.

European journal of human genetics : EJHG

Avec: Sorina M Papuc , Lucia Abela , Katharina Steindl , Anaïs Begemann , Thomas L Simmons , Bernhard Schmitt , Markus Zweier , Beatrice Oneda , Eileen Socher , Lisa M Crowther , Gabriele Wohlrab , Laura Gogoll , Martin Poms , Michelle Seiler , Michael Papik , Rosa Baldinger , Alessandra Baumer , Reza Asadollahi , Judith Kroell-Seger , Regula Schmid , Tobias Iff , Thomas Schmitt-Mechelke , Karoline Otten , Annette Hackenberg , Marie-Claude Addor , Andrea Klein , Silvia Azzarello-Burri , Heinrich Sticht , Pascal Joset , Barbara Plecko , Anita Rauch

Delineation of Molecular Lesions in Acute Myeloid Leukemia Patients at Diagnosis: Integrated Next Generation Sequencing and Cytogenomic Studies.

Genes

Avec: Sorina Mihaela Papuc , Alina Erbescu , Diana Cisleanu , Diana Ozunu , Cristina Enache , Ion Dumitru , Elena Lupoaia Andrus , Mihaela Gaman , Viola Maria Popov , Maria Dobre , Oana Stanca , Silvana Angelescu , Nicoleta Berbec , Andrei Colita , Ana-Maria Vladareanu , Horia Bumbea , Aurora Arghir

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.

European journal of human genetics : EJHG

Avec: Markus Zweier , Anaïs Begemann , Kirsty McWalter , Megan T Cho , Lucia Abela , Siddharth Banka , Bettina Behring , Andrea Berger , Chester W Brown , Maryline Carneiro , Jiani Chen , Gregory M Cooper , Auteur inconnu , Candice R Finnila , Maria J Guillen Sacoto , Alex Henderson , Ulrike Hüffmeier , Pascal Joset , Bronwyn Kerr , Gaetan Lesca , Gloria S Leszinski , John Henry McDermott , Meira R Meltzer , Kristin G Monaghan , Roya Mostafavi , Katrin Õunap , Barbara Plecko , Zöe Powis , Gabriela Purcarin , Tiia Reimand , Korbinian M Riedhammer , John M Schreiber , Deepa Sirsi , Klaas J Wierenga , Monica H Wojcik , Sorina M Papuc , Katharina Steindl , Heinrich Sticht , Anita Rauch

Correction to: Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives.

Journal of autism and developmental disorders

Avec: Álvaro Bejarano-Martín , Ricardo Canal-Bedia , María Magán-Maganto , Clara Fernández-Álvarez , María Victoria Martín-Cilleros , María Cruz Sánchez-Gómez , Patricia García-Primo , Mary Rose-Sweeney , Andrew Boilson , Renata Linertová , Herbert Roeyers , Sara Van der Paelt , Diana Schendel , Christine Warberg , Susanne Cramer , Antonio Narzisi , Filippo Muratori , María Luisa Scattoni , Irma Moilanen , Anneli Yliherva , Evald Saemundsen , Sigríður Loa Jónsdóttir , Magdalena Efrim-Budisteanu , Aurora Arghir , Sorina Mihaela Papuc , Astrid Vicente , Celia Rasga , Bernadette Rogé , Quentin Guillon , Sophie Baduel , Johanna Xenia Kafka , Luise Poustka , Oswald D Kothgassner , Rafal Kawa , Ewa Pisula , Tracey Sellers , Manuel Posada de la Paz

Neurofibromatosis type 1 associated with moyamoya syndrome. Case report and review of the literature.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie

Avec: Magdalena Budişteanu , Carmen Magdalena Burloiu , Sorina Mihaela Papuc , Ina Ofelia Focşa , Dan Riga , Sorin Riga , Aurora Arghir

Predictive factors in early onset schizophrenia.

Experimental and therapeutic medicine

Avec: Magdalena Budisteanu , Emanuela Andrei , Florentina Linca , Diana Stefania Hulea , Alexandra Catalina Velicu , Ilinca Mihailescu , Sorin Riga , Aurora Arghir , Sorina Mihaela Papuc , Carmen Adella Sirbu , Marian Mitrica , Any Docu-Axelerad , Minerva Claudia Ghinescu , Iuliana Dobrescu , Florina Rad

The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients.

Genes

Avec: Magdalena Budisteanu , Sorina Mihaela Papuc , Ioana Streata , Mihai Cucu , Andrei Pirvu , Simona Serban-Sosoi , Alina Erbescu , Emanuela Andrei , Catrinel Iliescu , Doina Ioana , Emilia Severin , Mihai Ioana , Aurora Arghir

Re-emerging concepts of immune dysregulation in autism spectrum disorders.

Frontiers in psychiatry

Avec: Alina Erbescu , Sorina Mihaela Papuc , Magdalena Budisteanu , Aurora Arghir , Monica Neagu

Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives.

Journal of autism and developmental disorders

Avec: Álvaro Bejarano-Martín , Ricardo Canal-Bedia , María Magán-Maganto , Clara Fernández-Álvarez , María Victoria Cilleros-Martín , María Cruz Sánchez-Gómez , Patricia García-Primo , Mary Rose-Sweeney , Andrew Boilson , Renata Linertová , Herbert Roeyers , Sara Van der Paelt , Diana Schendel , Christine Warberg , Susanne Cramer , Antonio Narzisi , Filippo Muratori , María Luisa Scattoni , Irma Moilanen , Anneli Yliherva , Evald Saemundsen , Sigríður Loa Jónsdóttir , Magdalena Efrim-Budisteanu , Aurora Arghir , Sorina Mihaela Papuc , Astrid Vicente , Celia Rasga , Bernadette Rogé , Quentin Guillon , Sophie Baduel , Johanna Xenia Kafka , Luise Poustka , Oswald D Kothgassner , Rafal Kawa , Ewa Pisula , Tracey Sellers , Manuel Posada de la Paz

Treatment of Epilepsy Associated with Common Chromosomal Developmental Diseases.

Open life sciences

Avec: Magdalena Budisteanu , Claudia Jurca , Sorina Mihaela Papuc , Ina Focsa , Dan Riga , Sorin Riga , Alexandru Jurca , Aurora Arghir

Pallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review.

Genes

Avec: Aurora Arghir , Roxana Popescu , Irina Resmerita , Magdalena Budisteanu , Lacramioara Ionela Butnariu , Eusebiu Vlad Gorduza , Mihaela Gramescu , Monica Cristina Panzaru , Sorina Mihaela Papuc , Adriana Sireteanu , Andreea Tutulan-Cunita , Cristina Rusu

Determinants of satisfaction with the detection process of autism in Europe: Results from the ASDEU study.

Autism : the international journal of research and practice

Avec: Quentin Guillon , Sophie Baduel , Álvaro Bejarano-Martín , Ricardo Canal-Bedia , María MagÁn-Maganto , Clara FernÁndez-Álvarez , María Victoria Martín-Cilleros , María Cruz SÁnchez-Gómez , Patricia García-Primo , Mary Rose-Sweeney , Andrew Boilson , Renata LinertovÁ , Herbert Roeyers , Sara Van der Paelt , Diana Schendel , Christine Kloster Warberg , Susanne Cramer , Antonio Narzisi , Filippo Muratori , María Luisa Scattoni , Irma Moilanen , Anneli Yliherva , Evald Saemundsen , Sigridur Loa Jonsdottir , Magdalena Efrim-Budisteanu , Aurora Arghir , Sorina Mihaela Papuc , Astrid Vicente , Celia Rasga , Johanna Xenia Kafka , Luise Poustka , Oswald D Kothgassner , Rafal Kawa , Ewa Pisula , Tracey Sellers , Manuel Posada de la Paz , Bernadette Rogé

Réseau de co-auteurs

Aurora Arghir 13 collaborations

Magdalena Budisteanu 8 collaborations

Alina Erbescu 6 collaborations

Álvaro Bejarano-Martín 3 collaborations

Ricardo Canal-Bedia 3 collaborations

Patricia García-Primo 3 collaborations

Mary Rose-Sweeney 3 collaborations

Andrew Boilson 3 collaborations

Herbert Roeyers 3 collaborations

Sara Van der Paelt 3 collaborations

Diana Schendel 3 collaborations

Susanne Cramer 3 collaborations

Antonio Narzisi 3 collaborations

Filippo Muratori 3 collaborations

María Luisa Scattoni 3 collaborations

Irma Moilanen 3 collaborations

Anneli Yliherva 3 collaborations

Evald Saemundsen 3 collaborations

Magdalena Efrim-Budisteanu 3 collaborations

Astrid Vicente 3 collaborations

Celia Rasga 3 collaborations

Bernadette Rogé 3 collaborations

Quentin Guillon 3 collaborations

Sophie Baduel 3 collaborations

Johanna Xenia Kafka 3 collaborations

Luise Poustka 3 collaborations

Oswald D Kothgassner 3 collaborations

Rafal Kawa 3 collaborations

Ewa Pisula 3 collaborations

Tracey Sellers 3 collaborations

Manuel Posada de la Paz 3 collaborations

Sorin Riga 3 collaborations

Catrinel Iliescu 2 collaborations

Maria Dobre 2 collaborations

Ioana Streata 2 collaborations

Sorina M Papuc 2 collaborations

Lucia Abela 2 collaborations

Katharina Steindl 2 collaborations

Anaïs Begemann 2 collaborations

Markus Zweier 2 collaborations

Heinrich Sticht 2 collaborations

Pascal Joset 2 collaborations

Barbara Plecko 2 collaborations

Anita Rauch 2 collaborations

María Magán-Maganto 2 collaborations

Clara Fernández-Álvarez 2 collaborations

María Victoria Martín-Cilleros 2 collaborations

María Cruz Sánchez-Gómez 2 collaborations

Renata Linertová 2 collaborations

Christine Warberg 2 collaborations

Sigríður Loa Jónsdóttir 2 collaborations

Dan Riga 2 collaborations

Emanuela Andrei 2 collaborations

Diana Barca 1 collaboration

Oana Tarta-Arsene 1 collaboration

Cristina Motoescu 1 collaboration

Alice Dica 1 collaboration

Carmen Sandu 1 collaboration

Cristina Anghelescu 1 collaboration

Dana Craiu 1 collaboration

Adelina Glangher 1 collaboration

Anca-Lelia Riza 1 collaboration

Andreea-Cristina Tutulan-Cunita 1 collaboration

Sara Loddo 1 collaboration

Silvia Genovese 1 collaboration

Laura Ciocca 1 collaboration

Marina Goldoni 1 collaboration

Carmelo Piscopo 1 collaboration

Laura Bernardini 1 collaboration

Antonio Novelli 1 collaboration

Thomas L Simmons 1 collaboration

Bernhard Schmitt 1 collaboration

Beatrice Oneda 1 collaboration

Eileen Socher 1 collaboration

Lisa M Crowther 1 collaboration

Gabriele Wohlrab 1 collaboration

Laura Gogoll 1 collaboration

Martin Poms 1 collaboration

Michelle Seiler 1 collaboration

Michael Papik 1 collaboration

Rosa Baldinger 1 collaboration

Alessandra Baumer 1 collaboration

Reza Asadollahi 1 collaboration

Judith Kroell-Seger 1 collaboration

Regula Schmid 1 collaboration

Tobias Iff 1 collaboration

Thomas Schmitt-Mechelke 1 collaboration

Karoline Otten 1 collaboration

Annette Hackenberg 1 collaboration

Marie-Claude Addor 1 collaboration

Andrea Klein 1 collaboration

Silvia Azzarello-Burri 1 collaboration

Diana Cisleanu 1 collaboration

Diana Ozunu 1 collaboration

Cristina Enache 1 collaboration

Ion Dumitru 1 collaboration

Elena Lupoaia Andrus 1 collaboration

Mihaela Gaman 1 collaboration

Viola Maria Popov 1 collaboration

Oana Stanca 1 collaboration

Silvana Angelescu 1 collaboration

Nicoleta Berbec 1 collaboration

Andrei Colita 1 collaboration

Ana-Maria Vladareanu 1 collaboration

Horia Bumbea 1 collaboration

Kirsty McWalter 1 collaboration

Megan T Cho 1 collaboration

Siddharth Banka 1 collaboration

Bettina Behring 1 collaboration

Andrea Berger 1 collaboration

Chester W Brown 1 collaboration

Maryline Carneiro 1 collaboration

Jiani Chen 1 collaboration

Gregory M Cooper 1 collaboration

None None 1 collaboration

Candice R Finnila 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Alex Henderson 1 collaboration

Ulrike Hüffmeier 1 collaboration

Bronwyn Kerr 1 collaboration

Gaetan Lesca 1 collaboration

Gloria S Leszinski 1 collaboration

John Henry McDermott 1 collaboration

Meira R Meltzer 1 collaboration

Kristin G Monaghan 1 collaboration

Roya Mostafavi 1 collaboration

Katrin Õunap 1 collaboration

Zöe Powis 1 collaboration

Gabriela Purcarin 1 collaboration

Tiia Reimand 1 collaboration

Korbinian M Riedhammer 1 collaboration

John M Schreiber 1 collaboration

Deepa Sirsi 1 collaboration

Klaas J Wierenga 1 collaboration

Monica H Wojcik 1 collaboration

Magdalena Budişteanu 1 collaboration

Carmen Magdalena Burloiu 1 collaboration

Ina Ofelia Focşa 1 collaboration

Florentina Linca 1 collaboration

Diana Stefania Hulea 1 collaboration

Alexandra Catalina Velicu 1 collaboration

Ilinca Mihailescu 1 collaboration

Carmen Adella Sirbu 1 collaboration

Marian Mitrica 1 collaboration

Any Docu-Axelerad 1 collaboration

Minerva Claudia Ghinescu 1 collaboration

Iuliana Dobrescu 1 collaboration

Florina Rad 1 collaboration

Mihai Cucu 1 collaboration

Andrei Pirvu 1 collaboration

Simona Serban-Sosoi 1 collaboration

Doina Ioana 1 collaboration

Emilia Severin 1 collaboration

Mihai Ioana 1 collaboration

Monica Neagu 1 collaboration

María Victoria Cilleros-Martín 1 collaboration

Claudia Jurca 1 collaboration

Ina Focsa 1 collaboration

Alexandru Jurca 1 collaboration

Roxana Popescu 1 collaboration

Irina Resmerita 1 collaboration

Lacramioara Ionela Butnariu 1 collaboration

Eusebiu Vlad Gorduza 1 collaboration

Mihaela Gramescu 1 collaboration

Monica Cristina Panzaru 1 collaboration

Adriana Sireteanu 1 collaboration

Andreea Tutulan-Cunita 1 collaboration

Cristina Rusu 1 collaboration

María MagÁn-Maganto 1 collaboration

Clara FernÁndez-Álvarez 1 collaboration

María Cruz SÁnchez-Gómez 1 collaboration

Renata LinertovÁ 1 collaboration

Christine Kloster Warberg 1 collaboration

Sigridur Loa Jonsdottir 1 collaboration