The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature

Urraca, Nora, Cleary, Julie, Brewer, Victoria, Pivnick, Eniko K., McVicar, Kathryn, Thibert, Ronald L., Schanen, N. Carolyn, Esmer, Carmen +2 more·2013·Autism Research
DOI 10.1002/aur.1284

Cited by (164)

Items 101–164 of 164

  1. Evaluation of UBE3A antibodies in mice and human cerebral organoids
    Dilara Sen, Zuzana Drobná, Albert J. Keung · 2021 · Scientific Reports
  2. A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability
    Haiming Yuan, Zhe Meng, Lina Zhang, Xiangyang Luo, Liping Liu, Mengfan Chen, Xinwei Li, Weiwei Zhao, Liyang Liang · 2016 · Molecular Cytogenetics
  3. A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism
    Nora Urraca, Brian Potter, Rachel J. Hundley, Enikö K. Pivnick, Kathryn A. McVicar, Ronald L. Thibert, Christopher K. Ledbetter, Reed Chamberlain, Leticia Miravalle, Carissa L. Sirois et al. · 2016 · Frontiers in Genetics
  4. Maternal 15q Duplication Syndrome
    Laina G. Lusk, Vanessa K. Vogel‐Farley, Charlotte DiStefano, Shafali Jeste · 2021
  5. Age of diagnosis for children with chromosome 15q syndromes
    Anne Wheeler, Marie G. Gantz, Heidi Cope, Theresa V. Strong, Jessica E. S. Bohonowych, Amanda Moore, Vanessa K. Vogel‐Farley · 2023 · Journal of Neurodevelopmental Disorders
  6. Maternal 15q11.2-q13.1 duplication syndrome-associated psychosis and mania: a new case and review of the literature
    Mark Ainsley Colijn, Christopher Smith, Mary Ann Thomas · 2023 · Psychiatric Genetics
  7. Role of androgen receptors in sexually dimorphic phenotypes in UBE3A-dependent autism spectrum disorder
    Yuan Tian, Hui Qiao, KathrynAnn Odamah, Ling‐Qiang Zhu, Heng‐Ye Man · 2025 · iScience
  8. Presymptomatic Biological, Structural, and Functional Diagnostic Biomarkers of Autism Spectrum Disorder
    Bonnie M. Wang, Zoe Mills, Hannah F Jones, Johanna M. Montgomery, Kevin Y. Lee · 2025 · Journal of Neurochemistry
  9. Parental-reported pain insensitivity in Dup15q
    Kadi Luchsinger, Heather Lau, Julie Hedlund, Daniel J. Friedman, Kara Krushel, Orrin Devinsky · 2016 · Epilepsy & Behavior
  10. A Link between Genetic Disorders and Cellular Impairment, Using Human Induced Pluripotent Stem Cells to Reveal the Functional Consequences of Copy Number Variations in the Central Nervous System—A Close Look at Chromosome 15
    Alessia Casamassa, Daniela Ferrari, Maurizio Gelati, Massimo Carella, Angelo Luigi Vescovi, Jessica Diana Rosati · 2020 · International Journal of Molecular Sciences
  11. Is Chromosome 15q13.3 Duplication Involving CHRNA7 Associated With Oral Clefts?
    Yingjun Xie · 2015 · Child Neurology Open
  12. Elimination of the extra chromosome of Dup15q syndrome iPSCs for cellular and molecular investigation
    Haruka Munezane, Keiko Imamura, Naoko Fujimoto, Akitsu Hotta, Hiroshi Yukitake, Haruhisa Inoue · 2024 · European Journal of Cell Biology
  13. An Association Study of DNA Methylation and Gene Expression in Angelman Syndrome: A Bioinformatics Approach
    Julia Panov, Hanoch Kaphzan · 2022 · International Journal of Molecular Sciences
  14. Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques
    Qiong Pan, Hao Hu, Liangrong Han, Xin Jing, Hailiang Liu, Chuanchun Yang, Fengting Zhang, Yue Hu, Hongni Yue, Ying Ning · 2016 · PLoS ONE
  15. The Autistic Spectrum Disorders (ASD): From the Clinics to the Molecular Analysis
    Pierre L. Roubertoux, Sylvie Tordjman · 2014 · Neuromethods
  16. Genetic mechanisms of neurodevelopmental disorders
    Ping Yee Billie Au, Alison J. Eaton, David Alexandre Dyment · 2020 · Handbook of clinical neurology
  17. Sleep EEG signatures in mouse models of 15q11.2-13.1 duplication (Dup15q) syndrome
    Vidya Saravanapandian, Melika Madani, India Nichols, Scott Vincent, Mary Dover, Dante Dikeman, Benjamin D. Philpot, Toru Takumi, Christopher Scott Colwell, Shafali Jeste et al. · 2024 · Journal of Neurodevelopmental Disorders
  18. RO4938581, a GABAA-α5 negative allosteric modulator rescued behavioral and EEG phenotypes of a mouse model of Dup15q syndrome
    Ryoko Nakagawa, Francesca Nani, Joerg F. Hipp, Michael Honer, Frédéric Knoflach, Rodolfo Gasser, Laurence Ozmen, Kota Tamada, Fatiha Fjeldskaar, Livia Takacs et al. · 2026 · Molecular Psychiatry
  19. Family-based GWAS for dental class I malocclusion and clefts
    Mariana Bezamat, Chelsea E. Carver, Alexandre Rezende Vieira · 2024 · BMC Oral Health
  20. A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study
    Natalya A. Lemskaya, Svetlana A. Romanenko, Mariia A. Rezakova, Elena Filimonova, Dmitry Prokopov, Alexander A. Dolskiy, Polina L. Perelman, Yu. V. Maksimova, Asia R. Shorina, Dmitry V. Yudkin · 2021 · Molecular Cytogenetics
  21. Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization
    Emiy Yokoyama-Rebollar, Adriana Ruiz‐Herrera, Esther Lieberman-Hernández, Victoria Del Castillo-Ruiz, Silvia Sánchez-Sandoval, Silvia M Ávila-Flores, José Luis Castrillo · 2015 · Molecular Cytogenetics
  22. A validation study of the clinical diagnosis of Dup15q syndrome: Which symptoms matter most?
    Ettore Beghi, Giorgia Giussani, Elisa Bianchi, Giovanna Randazzo, V. Sarcona, Maurizio Elia, Pasquale Striano, Alberto Verrotti, Alessandro Ferretti, Erika Rebessi et al. · 2019 · Seizure
  23. A genome-wide enhancer/suppressor screen for Dube3a interacting genes in Drosophila melanogaster
    Kevin A. Hope, Addison McGinn, Lawrence T. Reiter · 2019 · Scientific Reports
  24. Developmental disabilities, autism, and schizophrenia at a single locus
    Lawrence T. Reiter · 2020 · Elsevier eBooks
  25. A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
    Jalin A. Stelzer, Jason J. Yi · 2022 · Journal of Visualized Experiments
  26. Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis
    Yang Yang, Hao Wang · 2023 · Molecular Cytogenetics
  27. Organism Models: Choosing the Right Model
    Nicolas Lévy, Pierre L. Roubertoux · 2014 · Neuromethods
  28. Angelman Syndrome causing UBE3A ligase displays predominantly synaptic ubiquitination activity in the mouse brain
    Ugo Mayor, Unai Alduntzin, Benoit Louis Philippe Lectez, Natalia Presa, Nerea Osinalde, Marta Fernandez, Nagore Elu, Juanma Ramírez, Cristina Garcia-Barcena, Kerman Aloria et al. · 2023 · Research Square
  29. An integrated action plan to fund and support drug development for Dup15q syndrome: a patient organization perspective
    Ryan Rogers-Hammond, Carrie Howell · 2024 · Therapeutic Advances in Rare Disease
  30. Deciphering copy number variations and gene implications in an Egyptian cohort with autism spectrum disorders
    Amal Mahmoud Mohamed, Ola Mohamed Eid, Khalda Said Amr, Rana Mahrous, Maha Hemimi, Amal Elsaeid, Peter S. F. Erian, Sally Gharib, Shymaa H. Hussein, Phoebe M. Abd El-Massieh et al. · 2025 · BMC Medical Genomics
  31. UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes
    Ruslan Kurmashev · 2026 · American Journal of Medical Genetics Part B Neuropsychiatric Genetics
  32. Pubertal delay in patients with paternally derived 15q11.2–q13 duplication syndrome and MKRN3 overexpression
    Delfina Petrone, Stefania Palumbo, Carola Giacobbe, Maria Elena Onore, Maria Esposito, Silverio Perrotta, Emanuele Miraglia del Giudice, Giulio Piluso, Vincenzo Nigro, Claudia Santoro et al. · 2026 · The Journal of Clinical Endocrinology & Metabolism
  33. Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases
    Xia-Li Jiang, Bin Liang, Bilian Chen, Xiaoqing Wu, Yan Wang, Na Lin, Hailong Huang, Liangpu Xu · 2024 · Chromosome Research
  34. Deletions and Other Structural Abnormalities of the Autosomes
    Laura Kathleen Conlin, Ada J. S. Chan, Beverly S. Emanuel, Nancy Bettina Spinner · 2024 · Elsevier eBooks
  35. Measuring Electroencephalography: The Ups and Downs of Delta and Beta Bands as Biomarkers for 15q11-q13–Related Disorders
    Geeske M. van Woerden · 2019 · Biological Psychiatry
  36. Investigation of Cell-Type-Specific Effects and Synergistic Interactions Between Genes in Duplication 15q Syndrome
    Kevin A. Hope · 2019
  37. Caracterização de uma amostra de indivíduos com deficiência intelectual de origem indeterminada
    Carolina Rodrigues Lincoln de Carvalho · 2017
  38. Case Report: Autism Risk Within the Context of Two Chromosome 15 Syndromes
    Ashleigh M. Kellerman, Mehreen Z. Hassan, Emily A. Abel, Molly Reilly, Rebecca McNally Keehn, Amy J. Schwichtenberg · 2022 · Journal of Autism and Developmental Disorders
  39. Intellectual Disability
    Pierre L. Roubertoux, Michèle Carlier · 2016 · Springer eBooks
  40. Novel Approaches for Treating Pediatric Psychiatric Disorders
    Supritha Prasad, Edwin H. Cook · 2017 · Oxford University Press eBooks
  41. UBE3A-Induced Ubiquitination Changes in the Brain Reveal the Molecular Complexity of Angelman Syndrome
    Benoit Louis Philippe Lectez, Unai Alduntzin, Nerea Osinalde, Marta Fernandez, Nagore Elu, Juanma Ramírez, Cristina Garcia-Barcena, Natalia Presa, Kerman Aloria, Andreas Frick et al. · 2022 · SSRN Electronic Journal
  42. INHERITED 15Q DUPLICATION IN THREE NOT RELATED UKRAINIAN FAMILIES
    Sofiia Levandivska, M.I. Dushar, O. V. Tyshchenko, Nataliya L. Huleyuk, Erika Patskun, Halyna Makukh · 2023 · Medical Science of Ukraine (MSU)
  43. Trials test utility of EEG biomarkers for autism-related conditions
    Calli McMurray · 2023 · The Transmitter
  44. Glial expression of Drosophila UBE3A causes spontaneous seizures modulated by 5-HT signaling
    Megan Sleep, Saul Landaverde, Andrew Lacoste, Selene Tan, Reid Schuback, Lawrence T. Reiter, Atulya Srisudarshan Ram Iyengar · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  45. Duplication 15q Syndrome
    Dana Q. Tran · 2024 · Springer eBooks
  46. Prenatal genetic evaluation and outcomes in pregnancies with first-occurrence typical orofacial clefts
    Xiaoqing Wu, Xiaorui Xie, Jinzhou Lu, Linjuan Su, Bin Liang, Na Lin, Liangpu Xu, Danhua Guo, Lin Zheng · 2025 · Research Square
  47. Unraveling the Genomic Architecture of Supernumerary (Iso‐)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature‐Based Study
    Sebastian Burkart, Markus Ries, Verena Romero, Karin Burau, Christian Patrick Schaaf, Maja Hempel · 2025 · American Journal of Medical Genetics Part A
  48. Ocular Manifestations of Chromosomal Abnormalities
    Lorena De Melo Haefeli, Sorath Noorani Siddiqui, Alex V. Levin · 2025 · Oxford University Press eBooks
  49. Additional file 1 of Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome
    Vidya Saravanapandian, Divya Nadkarni, Hsu, Sheng-Hsiou, Shaun A. Hussain, Kiran Prasad Maski, Peyman Golshani, Colwell, Christopher S., Saravanavel Balasubramanian, A. Dixon, Daniel H. Geschwind et al. · 2021 · Figshare
  50. Additional file 3 of Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome
    Vidya Saravanapandian, Divya Nadkarni, Hsu, Sheng-Hsiou, Shaun A. Hussain, Kiran Prasad Maski, Peyman Golshani, Colwell, Christopher S., Saravanavel Balasubramanian, A. Dixon, Daniel H. Geschwind et al. · 2021 · Figshare
  51. Additional file 1 of Age of diagnosis for children with chromosome 15q syndromes
    Anne Wheeler, Marie G. Gantz, Heidi Cope, Theresa V. Strong, Jessica E. S. Bohonowych, Moore, Amanda, Vanessa K. Vogel‐Farley · 2024 · Figshare
  52. Additional file 2 of Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome
    Vidya Saravanapandian, Divya Nadkarni, Hsu, Sheng-Hsiou, Shaun A. Hussain, Kiran Prasad Maski, Peyman Golshani, Colwell, Christopher S., Saravanavel Balasubramanian, A. Dixon, Daniel H. Geschwind et al. · 2021 · Figshare
  53. Additional file 1 of A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study
    Natalya A. Lemskaya, Svetlana A. Romanenko, Mariia A. Rezakova, Filimonova, Elena A., Prokopov, Dmitry Yu., Alexander A. Dolskiy, Perelman, Polina L., Maksimova, Yulia V., Asia R. Shorina, Yudkin, Dmitry V. · 2021 · Figshare
  54. Neonatal social communication and single genes predict the variability of post-pubertal social behavior in a mouse model of paternal 15q11-13 duplication
    Takahira Yamauchi, Kota Tamada, Takeshi Takano, Mitsuteru Nakamura, Mariel Barbachan E. Silva, Kenny Q. Ye, Hitoshi Inada, Takaki Tanifuji, Takeshi Hiramoto, Lucas J. Stevens et al. · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
  55. Management of autism and attention-deficit hyperactivity disorder in Dup15q syndrome
    Pranati Gudipati, Himani J Suthar, Rithika Narravula, Dhruvin Patel, Parinda Parikh · 2026 · International Journal of Research in Medical Sciences
  56. The serotonin receptor 7 as an emerging target to restore altered neuroplasticity in Angelman syndrome
    Eduardo Penna, Amelia Pizzella, Natalia Abate, Noemi Conte, Fabiano Cimmino, Maria Pina Mollica, Rossella Di Giaimo, Michel Baudry, Xiaoning Bi, Marianna Crispino · 2026 · Experimental Neurology
  57. Neonatal social communication and single genes predict the variability of post-pubertal social behavior in a mouse model of paternal 15q11-13 duplication
    Noboru Hiroi, Takahira Yamauchi, Kota Tamada, Takeshi Takano, Mitsuteru Nakamura, Mariel Barbachan e Silva, Kenny Q. Ye, Hitoshi Inada, Takaki Tanifuji, Takeshi Hiramoto et al. · 2026 · Research Square
  58. Family-Based Interpretation of a Prenatally Detected 15q11.2 Duplication
    Andreas E Spathi, Stylianos Lagios, Vassilis Papanikolaou, Charilaos Kostoulas, Athanasia Sesse, Eleni Theochari, Theoni Leoutsakou, Alexandros Psarris, Maria Kavvadia, Theano Stauroulaki et al. · 2026 · Cureus
  59. Epileptic and developmental encephalopathy secondary to inversion‐duplication of chromosome 15: Description of epilepsy characteristics and therapeutic outcomes
    Cristina Benítez-Provedo, Marta García-Fernández, Eva Gutiérrez‐Delicado, Elena González Alguacil, Nelmar Valentina Ortiz Cabrera, Barbara Fernández Garoz, Juan José García Peñas, Nuria Lamagrande Casanova, María Ballarà-Petitbò, Anna Duat Rodríguez et al. · 2026 · Epilepsia
  60. A rare de novo contiguous 15q11.1-q13.3 duplication with tetrasomy (CN=4) and adjacent trisomy (CN=3) associated with severe global developmental delay, autism spectrum disorder, and subclinical epileptiform discharges: a case report and literature review
    Xinyu Zhou, Hongyan Xie, Haoyan Yu, Zhiyuan Zhang, Yangfan Qi, Kai Jiang, Shuang-Zhu Lin · 2026 · Frontiers in Genetics
  61. Performance of non-invasive prenatal screening for 15q11q13 copy number variations in a cohort of 90,693 pregnancies
    Diyu Chen, Liang Hu, Hongyan Niu, Zhenming Li, Shuxian Zeng, Xiaoyi Cong, 孙平楠, Weiqiang Liu · 2026 · Frontiers in Genetics
  62. Case Report: Prenatal and postnatal clinical manifestations of 15q duplication syndrome: a single longitudinal case combined with pooled analysis of 35 prenatal cases
    Ziqing Xu, Mou Ufei, Hongbo Chen, Shuo Yang, Peijun Zou, You Lu, Fei Xiong, Jinrong Li · 2026 · Frontiers in Medicine
  63. Genetic Convergence of Autism Spectrum Disorder and Epilepsy: From Molecular Mechanisms to Precision Therapeutics
    Iliyana Hristova Pacheva · 2026 · Genes
  64. Clinical Spectrum of Chromosome 15q11–q13 Duplication Syndrome: A Scoping Review of Neurodevelopmental and Multisystem Manifestations
    Jorge Baruch Cortés Cruz, Cerda‐Mireles Odette Carolina, Luz María Sánchez‐Sánchez, Beatriz Elizabeth De la Fuente-Cortez, García‐Vielma Catalina · 2026 · Clinical Genetics