Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

Wilson, H L, Wong, A C C, Shaw, S R, Tse, W-Y, Stapleton, G A, Phelan, M C, Hu, S, Marshall, J, McDermid, H E·2003·Journal of Medical Genetics

Cited by (377)

Items 101–200 of 377

  1. Repetitive behaviors in the Shank1 knockout mouse model for autism spectrum disorder: Developmental aspects and effects of social context
    Ayse Özge Sungur, Karl Jakob Vörckel, Rainer K.W. Schwarting, Markus Wöhr · 2014 · Journal of Neuroscience Methods
  2. Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection
    Nuala Sykes, Claudio Toma A, Natalie Wilson, Emanuela Valeria Volpi, Inês Sousa, Alistair T. Pagnamenta, Raffaella Tancredi, Agatino Battaglia, Elena Maestrini, Anthony J. Bailey et al. · 2009 · European Journal of Human Genetics
  3. Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium
    Tess Levy, Jennifer H. Foss‐Feig, Catalina Betancur, Paige M. Siper, Maria del Pilar Trelles, Danielle B. Halpern, Yitzchak Frank, Reymundo Lozano, Christina Layton, Bari Britvan et al. · 2021 · Human Molecular Genetics
  4. Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children
    Renée J. Zwanenburg, Selma Ruiter, Edwin R. van den Heuvel, Boudien C. T. Flapper, Conny M.A. van Ravenswaaij‐Arts · 2016 · Journal of Neurodevelopmental Disorders
  5. Diversity and consequences of structural variation in the human genome
    Ryan L. Collins, Michael E. Talkowski · 2025 · Nature Reviews Genetics
  6. Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome)
    Gillian Reierson, Jon Bernstein, Wendy M. Froehlich, Alexander Eckehart Urban, Carolin Purmann, Sean W. Berquist, Joshua T. Jordan, Ruth M. O'Hara, Joachim Franz Hallmayer · 2017 · Journal of Psychiatric Research
  7. Altered Behaviors and Impaired Synaptic Function in a Novel Rat Model With a Complete Shank3 Deletion
    Tian-Jia Song, Xing-Yu Lan, Mengping Wei, Fu-Jun Zhai, Tobias M. Boeckers, Jianan Wang, Shuo Yuan, Meng-Ying Jin, Yufei Xie, Wan-Wen Dang et al. · 2019 · Frontiers in Cellular Neuroscience
  8. Molecular Dynamics Simulations of Wild Type and Mutants of SAPAP in Complexed with Shank3
    Lianhua Piao, Zhou Chen, Qiuye Li, Ranran Liu, Wei Song, Ren Kong, Shan Chang · 2019 · International Journal of Molecular Sciences
  9. Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants
    Anthony J. Griswold, Nicole Dueker, Derek Van Booven, Joseph A. Rantus, James M Jaworski, Susan H. Slifer, Michael A. Schmidt, William F. Hulme, Ioanna Konidari, Patrice L. Whitehead et al. · 2015 · Molecular Autism
  10. Genomic designation: How genetics can delineate new, phenotypically diffuse medical categories
    Daniel Navon · 2011 · Social Studies of Science
  11. Ring chromosome 22 and neurofibromatosis type II: proof of two‐hit model for the loss of the NF2 gene in the development of meningioma
    Birgit Zirn, Larissa Arning, Iris Bartels, Moneef Shoukier, Sabine Hoffjan, B Neubauer, A Hahn · 2010 · Clinical Genetics
  12. Phelan-McDermid syndrome: a classification system after 30 years of experience
    Katy Phelan, Luigi Boccuto, Craig M. Powell, Tobias M. Boeckers, Conny M.A. van Ravenswaaij‐Arts, R. Curtis Rogers, Carlo Sala, Chiara Verpelli, Audrey E. Thurm, William E. Bennett et al. · 2022 · Orphanet Journal of Rare Diseases
  13. A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism
    Ravinesh A Kumar, Jyotsna Sudi, Timothy D. Babatz, Camille W. Brune, Donald P. Oswald, Mayon Yen, Norma J. Nowak, Edwin H. Cook, Susan L. Christian, William B. Dobyns · 2009 · Journal of Medical Genetics
  14. Major motor and gait deficits with sexual dimorphism in a Shank3 mutant mouse model
    Emmanuel Matas, Alexandre Maïsterrena, Mathieu Thabault, Éric Balado, Maureen Francheteau, Anaïs Balbous, Laurie Galvan, Mohamed Jaber · 2021 · Molecular Autism
  15. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
    Julián Nevado, Sixto García‐Miñáur, María Palomares‐Bralo, Elena Vallespín, Encarna Guillén‐Navarro, Jordi Rosell, Cristina Bel Fenellós, María Ángeles Mori, Montserrat Milà, Miguel Del Campo et al. · 2022 · Frontiers in Genetics
  16. Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations
    Yara Hussein, Utkarsh Tripathi, Ashwani Choudhary, Ritu Nayak, David Peles, Idan Rosh, Tatiana Rabinski, Jose Djamus, Gad David Vatine, Ronen Spiegel et al. · 2023 · Translational Psychiatry
  17. The utility of patient specific induced pluripotent stem cells for the modelling of Autistic Spectrum Disorders
    Graham D. Cocks, Sarah R Curran, Priya Gami‐Patel, Dafe Uwanogho, Aaron R. Jeffries, Annie Kathuria, Walter Lucchesi, Victoria H. J. Wood, Rosemary Dixon, Caroline Mackie Ogilvie et al. · 2013 · Psychopharmacology
  18. The Genetics of Autism Spectrum Disorders
    Dorothy E. Grice, Joseph D. Buxbaum · 2006 · NeuroMolecular Medicine
  19. Synaptic genes and neurodevelopmental disorders: From molecular mechanisms to developmental strategies of behavioral testing
    Caterina Michetti, Antonio Falace, Fabio Benfenati, Anna Fassio · 2022 · Neurobiology of Disease
  20. Updated consensus guidelines on the management of Phelan–McDermid syndrome
    Siddharth Srivastava, Mustafa Şahin, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Latha Valluripalli Soorya, Audrey E. Thurm, Jonathan Adam Bernstein, Afua Asante‐Otoo, William E. Bennett, Catalina Betancur et al. · 2023 · American Journal of Medical Genetics Part A
  21. Absence of strong strain effects in behavioral analyses ofShank3-deficient mice
    Elodie Drapeau, Nate P. Dorr, Gregory A. Elder, Joseph D. Buxbaum · 2014 · Disease Models & Mechanisms
  22. Further delineation of the 22q13 deletion syndrome
    Suzanne Granhøj Lindquist, M. Kirchhoff, Claes Lundsteen, W. Pedersen, Gunna Erichsen, K. Kristensen, K. B. LILLQUIST, Heidi Smedegaard, Liselotte Skov, Niels Tommerup et al. · 2005 · Clinical Dysmorphology
  23. Common Pathophysiology in Multiple Mouse Models of Pitt–Hopkins Syndrome
    Courtney Thaxton, Alexander D. Kloth, Ellen P. Clark, Sheryl S. Moy, Raymond A. Chitwood, Benjamin D. Philpot · 2017 · Journal of Neuroscience
  24. GABA Neuronal Deletion of Shank3 Exons 14–16 in Mice Suppresses Striatal Excitatory Synaptic Input and Induces Social and Locomotor Abnormalities
    Taesun Yoo, Heejin Cho, Jiseok Lee, Haram Park, Ye-Eun Yoo, Esther Yang, Jin Yong Kim, Hyun Kim, Eunjoon Kim · 2018 · Frontiers in Cellular Neuroscience
  25. Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation
    David A. Koolen, William Reardon, Elisabeth M. Rosser, Didier Lacombe, Jane A. Hurst, Caroline Law, Ernie M.H.F. Bongers, Conny M.A. van Ravenswaaij‐Arts, M.A.R. Leisink, Ad Geurts van Kessel et al. · 2005 · European Journal of Human Genetics
  26. Molecular and synaptic defects in intellectual disability syndromes
    Chiara Verpelli, Carlo Sala · 2011 · Current Opinion in Neurobiology
  27. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
    The DDD study, Francesco Vetrini, Shane A McKee, Jill Anne Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth R. Roeder, Rebecca Okashah Littlejohn, Sue E. Holder et al. · 2019 · Genome Medicine
  28. High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability
    Xiaohong Gong, Yu-wu Jiang, Xin Zhang, Yu An, Jun Zhang, Ye Wu, Jingmin Wang, Yangfei Sun, Yanyan Liu, Xuewu Gao et al. · 2012 · PLoS ONE
  29. Actin-Dependent Alterations of Dendritic Spine Morphology in Shankopathies
    Sarowar, Tasnuva, Grabrucker, Andreas M. · 2016 · Neural Plasticity
  30. Shank1 mRNA: Dendritic Transport by Kinesin and Translational Control by the 5′Untranslated Region
    Katrin Falley, Janin Schütt, Peter Iglauer, Katharina Menke, Christoph Maas, Matthias Kneussel, Stefan Kindler, Fred Silvester Wouters, Dietmar Richter, Hans‐Jürgen Kreienkamp · 2009 · Traffic
  31. Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome
    Michael Schön, Pablo Daniel Lapunzina, Julián Nevado, Teresa Mattina, Cecilia Gunnarsson, Kinga Hadzsiev, Chiara Verpelli, Thomas Bourgeron, Sarah Jesse, Conny M.A. van Ravenswaaij‐Arts et al. · 2023 · European Journal of Medical Genetics
  32. Genetic diagnosis of autism spectrum disorders: The opportunity and challenge in the genomics era
    Yong‐hui Jiang, Yi Wang, Xiu Xu, Kwong Wai Choy, Amber Nolen Pursley, Sau Wai Cheung · 2014 · Critical Reviews in Clinical Laboratory Sciences
  33. A binding site outside the canonical PDZ domain determines the specific interaction between Shank and SAPAP and their function
    Menglong Zeng, Yuan Shang, Tingfeng Guo, Qinghai He, Wing‐Ho Yung, Kai Liu, Mingjie Zhang · 2016 · Proceedings of the National Academy of Sciences
  34. Defects in translational regulation contributing to human cognitive and behavioral disease
    Darnell, JC · 2011 · Current Opinion in Genetics & Development
  35. Shank3 Mice Carrying the Human Q321R Mutation Display Enhanced Self-Grooming, Abnormal Electroencephalogram Patterns, and Suppressed Neuronal Excitability and Seizure Susceptibility
    Ye-Eun Yoo, Taesun Yoo, Seungjoon Lee, Jiseok Lee, Doyoun Kim, Hye-Min Han, Yong-Chul Bae, Eunjoon Kim · 2019 · Frontiers in Molecular Neuroscience
  36. Clinical and molecular overlap in overgrowth syndromes
    Geneviève Baujat, Marlène Rio, Sylvie Rossignol, Damien Sanlaville, Stanislas Lyonnet, Martine F. Le Merrer, Arnold Münnich, Christine Gicquel, Laurence Colleaux, Valérie Cormier‐Daire · 2005 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
  37. Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats
    Jacot-Descombes, Sarah, Keshav, Neha U., Dickstein, Dara L., Wicinski, Bridget, Janssen, William G. M., Hiester, Liam L., Sarfo, Edward K., Warda, Tahia, Fam, Matthew M., Harony-Nicolas, Hala et al. · 2020 · Molecular Autism
  38. Integrative Brain Transcriptome Analysis Reveals Region-Specific and Broad Molecular Changes in Shank3-Overexpressing Mice
    Chunmei Jin, Hyojin Kang, Jae Ryun Ryu, Shinhyun Kim, Yinhua Zhang, Yeunkum Lee, Yoonhee Kim, Kihoon Han · 2018 · Frontiers in Molecular Neuroscience
  39. A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndrome
    Willem M. A. Verhoeven, J.I.M. Egger, Nicole de Leeuw · 2019 · European Journal of Medical Genetics
  40. Shank3 Exons 14–16 Deletion in Glutamatergic Neurons Leads to Social and Repetitive Behavioral Deficits Associated With Increased Cortical Layer 2/3 Neuronal Excitability
    Taesun Yoo, Heejin Cho, Haram Park, Jiseok Lee, Eunjoon Kim · 2019 · Frontiers in Cellular Neuroscience
  41. Molecular and Phenotypic Characterization of Ring Chromosome 22 in Two Unrelated Patients
    Hanene Hannachi, Soumaya Mougou-Zerelli, I. Benabdallah, N. Soayh, Najoua Kahloul, Naoufel Gaddour, Marc Le Lorc’h, Damien Sanlaville, Hatem Elghezal, A. Saad · 2013 · Cytogenetic and Genome Research
  42. Neurodevelopmental synaptopathies: Insights from behaviour in rodent models of synapse gene mutations
    Jiaqi Keith Luo, Rebecca H C Norris, Sarah L. Gordon, Jess Nithianantharajah · 2017 · Progress in Neuro-Psychopharmacology and Biological Psychiatry
  43. A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes
    Na Xu, Hui Lv, Tingting Yang, Xiujuan Du, Yu Sun, Bing Xiao, Yanjie Fan, Xiaomei Luo, Yongkun Zhan, Lili Wang et al. · 2020 · Orphanet Journal of Rare Diseases
  44. Using genetic findings in autism for the development of new pharmaceutical compounds
    Jacob A. S. Vorstman, Will P. J. M. Spooren, Antonio Maria Persico, David Andrew Collier, Stefan Aigner, Ravi Jagasia, Jeffrey Colm Glennon, Jan K. Buitelaar · 2013 · Psychopharmacology
  45. SHANK genes in autism: Defining therapeutic targets
    Adele Mossa, Federica Giona, Jessica Pagano, Carlo Sala, Chiara Verpelli · 2017 · Progress in Neuro-Psychopharmacology and Biological Psychiatry
  46. 22q13 Deletion Syndrome: An Update and Review for the Primary Pediatrician
    Joaquim Michael Havens, Jeannie Visootsak, Mary C. Phelan, John M. Graham · 2004 · Clinical Pediatrics
  47. Characterisation of the clinical phenotype in Phelan-McDermid syndrome
    Mónica Burdeus-Olavarrieta, Antonia San José Cáceres, Alicia García-Alcón, Javier González‐Peñas, Patricia Hernández-Jusdado, Mara Parellada · 2021 · Journal of Neurodevelopmental Disorders
  48. Integrative Analysis of Brain Region-specific Shank3 Interactomes for Understanding the Heterogeneity of Neuronal Pathophysiology Related to SHANK3 Mutations
    Yeunkum Lee, Hyojin Kang, Bokyoung Lee, Yinhua Zhang, Yoonhee Kim, Shinhyun Kim, Won-Ki Kim, Kihoon Han · 2017 · Frontiers in Molecular Neuroscience
  49. TAR DNA-Binding Protein 43 and Disrupted in Schizophrenia 1 Coaggregation Disrupts Dendritic Local Translation and Mental Function in Frontotemporal Lobar Degeneration
    Ryo Endo, Noriko Takashima, Yoko Nekooki-Machida, Yusuke Komi, Kelvin K. Hui, Masaki Takao, Hiroyasu Akatsu, Shigeo Murayama, Akira Sawa, Motomasa Tanaka · 2018 · Biological Psychiatry
  50. Association of genes with phenotype in autism spectrum disorder
    Sabah Nisar, Sheema Hashem, Ajaz Ahmad Bhat, Najeeb Syed, Santosh Kumar Yadav, Muhammad Waqar Azeem, Shahab Uddin M.S., Puneet Bagga, Ravinder D Reddy, Mohammad Haris · 2019 · Aging
  51. Pseudoacromegaly
    Pedro Marques, Márta Korbonits · 2018 · Frontiers in Neuroendocrinology
  52. Human Inducible Pluripotent Stem Cells and Autism Spectrum Disorder: Emerging Technologies
    Michael W. Nestor, André W. Phillips, Elena Artimovich, Jonathan E. Nestor, John P. Hussman, Gene J. Blatt · 2015 · Autism Research
  53. A de novo 7.9 Mb deletion in 22q13.2→qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings
    Chih‐Ping Chen, Shuan-Pei Lin, Schu‐Rern Chern, Fuu‐Jen Tsai, Pei-Chen Wu, Chen‐Chi Lee, Yuting Chen, Wen-ling Chen, Wayseen Wang · 2010 · European Journal of Medical Genetics
  54. DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome
    Laila Cigana Schenkel, Erfan Aref‐Eshghi, Kathleen Rooney, Jennifer Kerkhof, Michael A. Levy, H. McConkey, R. Curtis Rogers, Katy Phelan, Sara M. Sarasua, Lavanya Jain et al. · 2021 · Clinical Epigenetics
  55. Prospective study of autism phenomenology and the behavioural phenotype of Phelan–McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder
    Caroline Richards, Laurie Powis, Joanna F. Moss, Chris Stinton, Lisa Nelson, Chris Oliver · 2017 · Journal of Neurodevelopmental Disorders
  56. USP8 Deubiquitinates SHANK3 to Control Synapse Density and SHANK3 Activity-Dependent Protein Levels
    Meghan Kerrisk Campbell, Morgan Sheng · 2018 · Journal of Neuroscience
  57. Deep Phenotyping of Development, Communication and Behaviour in Phelan-McDermid Syndrome
    Gilles Droogmans, Ann Swillen, Griet Van Buggenhout · 2019 · Molecular Syndromology
  58. The Neurological Manifestations of Phelan-McDermid Syndrome
    Yitzchak Frank · 2021 · Pediatric Neurology
  59. Micro-electrode array recordings reveal reductions in both excitation and inhibition in cultured cortical neuron networks lacking Shank3
    Congyi Lu, Q Chen, Tian Gang Zhou, D Bozic, Zhanyan Fu, Jen Q. Pan, Guoping Feng · 2015 · Molecular Psychiatry
  60. Dosage-sensitive genes in autism spectrum disorders: From neurobiology to therapy
    Sehrish Javed, Tharushan Selliah, Yu‐Ju Lee, Wei‐Hsiang Huang · 2020 · Neuroscience & Biobehavioral Reviews
  61. Association study of SHANK3 gene polymorphisms with autism in Chinese Han population
    Jian Qin, Meixiang Jia, Lifang Wang, Tianlan Lu, Yan Ruan, Jing Liu, Yanqing Guo, Jishui Zhang, Xiaoling Yang, Weihua Yue et al. · 2009 · BMC Medical Genetics
  62. Characterization of the Statistical Signatures of Micro-Movements Underlying Natural Gait Patterns in Children with Phelan McDermid Syndrome: Towards Precision-Phenotyping of Behavior in ASD
    Elizabeth Barbara Torres, Jillian Nguyen, Sejal Mistry, Caroline P. Whyatt, Vilelmini Kalampratsidou, Alexander Kolevzon · 2016 · Frontiers in Integrative Neuroscience
  63. Delineating the Common Biological Pathways Perturbed by ASD’s Genetic Etiology: Lessons from Network-Based Studies
    Oded Oron, Evan Elliott · 2017 · International Journal of Molecular Sciences
  64. Clinical and Genetic Aspects of Phelan–McDermid Syndrome: An Interdisciplinary Approach to Management
    Francisco Cammarata-Scalisi, Michele Callea, Diego Martinelli, Colin Eric Willoughby, Antonio Cárdenas Tadich, Maykol Araya Castillo, María Angelina Lacruz-Rengel, Marco Medina, Piercesare Grimaldi, Enrico Bertini et al. · 2022 · Genes
  65. Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing
    Andrew Wong, Christa Lese Martin, Konstantina Heretis, Teresa M. Ruffalo, Kim Wilber, Walter King, David H. Ledbetter · 2005 · Genetics in Medicine
  66. Rare genetic brain disorders with overlapping neurological and psychiatric phenotypes
    Kathryn J. Peall, Michael John Owen, Jérémy Hall · 2023 · Nature Reviews Neurology
  67. Developmental profiling of ASD-related shank3 transcripts and their differential regulation by valproic acid in zebrafish
    Chunxue Liu, Xiaolan Peng, Chun-chun Hu, Chunyang Li, Qiang Li, Xiu Xu · 2016 · Development Genes and Evolution
  68. A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability
    Li Wang, Carolyn J. Adamski, Vitaliy V. Bondar, Evelyn Craigen, John R. Collette, Kaifang Pang, Kihoon Han, Antrix Jain, Sung Yun Jung, Zhandong Liu et al. · 2019 · Molecular Psychiatry
  69. Nervous vascular parallels: axon guidance and beyond
    Marco Arese, Guido Serini, Federico Bussolino · 2011 · The International Journal of Developmental Biology
  70. Molecular architecture of postsynaptic Interactomes
    Brent Wilkinson, Marcelo P. Coba · 2020 · Cellular Signalling
  71. Modeling autism spectrum disorders with human neurons
    Patrícia Cristina Baleeiro Beltrão-Braga, Alysson Renato Muotri · 2016 · Brain Research
  72. A patient with the classic features of Phelan‐McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72‐Mb deletion in the 22q13.2 region
    Kristi Simenson, Eve Õiglane‐Shlik, Rita Teek, Kati Kuuse, Katrin Õunap · 2013 · American Journal of Medical Genetics Part A
  73. Adult Phenotypes in Angelman- and Rett-Like Syndromes
    Marjolein H. Willemsen, J.H.M. Rensen, H. M. J. van Schrojenstein Lantman‐de Valk, Ben C.J. Hamel, Tjitske Kleefstra · 2011 · Molecular Syndromology
  74. The Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and Treatment
    Allan Acab, Alysson Renato Muotri · 2015 · Neurotherapeutics
  75. Autism and cytogenetic abnormalities: Solving autism one chromosome at a time
    Christa Lese Martin, David H. Ledbetter · 2007 · Current Psychiatry Reports
  76. Criss‐crossing autism spectrum disorder and adult neurogenesis
    Frank Bicker, Leonardo Nardi, Jannik Maier, Verica Vasić, Michael J. Schmeißer · 2021 · Journal of Neurochemistry
  77. Sleep disturbances in autism spectrum disorder: Animal models, neural mechanisms, and therapeutics
    John J. Maurer, Ashley Choi, Isabella An, Nicholas Sathi, Shinjae Chung · 2023 · Neurobiology of Sleep and Circadian Rhythms
  78. A Non-Canonical Initiation Site Is Required for Efficient Translation of the Dendritically Localized Shank1 mRNA
    Katrin Studtmann, Janin Ölschläger‐Schütt, Friedrich Buck, Dietmar Richter, Carlo Sala, Jürgen Bockmann, Stefan Kindler, Hans‐Jürgen Kreienkamp · 2014 · PLoS ONE
  79. The association of SHANK3 gene polymorphism and autism
    Farhad Mashayekhi, Nahid Mizban, Elham Bidabadi, Zivar Salehi · 2021 · Minerva Pediatrics
  80. Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia
    Li‐San Wang, Dubravka Hranilović, Kai Wang, Ingrid E. Lindquist, Lindsay Yurcaba, Zorana Bujas Petković, Nicole Bondad Gidaya, Branimir Jernej, Hakon H. Hakonarson, Maja Bućan · 2010 · BMC Medical Genetics
  81. Disease-in-a-Dish
    David L. Mack, Xuan Guan, Ashley L. Wagoner, Stephen J. Walker, Martin K. Childers · 2014 · American Journal of Physical Medicine & Rehabilitation
  82. Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment
    Catherine A. Ziats, Luke P. Grosvenor, Sara M. Sarasua, Audrey E. Thurm, Susan E. Swedo, Ahmed Essam Mahfouz, Owen M. Rennert, Mark N. Ziats · 2019 · PLoS ONE
  83. A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies
    Ruiyu Ma, Linbei Deng, Yan Xia, Xianda Wei, Yingxi Cao, Ruolan Guo, Rui Zhang, Jing Guo, Desheng Liang, Lingqian Wu · 2017 · Scientific Reports
  84. Mutations of the synapse genes and intellectual disability syndromes
    Chiara Verpelli, Caterina Montani, Cinzia Vicidomini, Christopher Heise, Carlo Sala · 2013 · European Journal of Pharmacology
  85. Behavioral phenotypes and neurobiological mechanisms in the Shank1 mouse model for autism spectrum disorder: A translational perspective
    Ayse Özge Sungur, Rainer K.W. Schwarting, Markus Wöhr · 2017 · Behavioural Brain Research
  86. Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2
    Melissa B. Ramocki, Fernando Scaglia, Paweł Stankiewicz, John W. Belmont, Jeremy Y. Jones, Gary Clark · 2011 · American Journal of Medical Genetics Part A
  87. Social Deficits and Repetitive Behaviors Are Improved by Early Postnatal Low-Dose VPA Intervention in a Novel shank3-Deficient Zebrafish Model
    Chunxue Liu, Yi Wang, Jingxin Deng, Jia Lin, Chunchun Hu, Qiang Li, Xiu Xu · 2021 · Frontiers in Neuroscience
  88. Therapeutic approaches for shankopathies
    Xiaoming Wang, Alexandra L. Bey, Leeyup Chung, Andrew D. Krystal, Yong‐hui Jiang · 2013 · Developmental Neurobiology
  89. L’autisme : surestimation des origines génétiques
    Brigitte Chamak · 2010 · médecine/sciences
  90. Autism spectrum disorders and disease modeling using stem cells
    Anita Brito, Fabiele Baldino Russo, Alysson Renato Muotri, Patrícia Cristina Baleeiro Beltrão-Braga · 2017 · Cell and Tissue Research
  91. Regulation of dendritic spine morphology by SPIN90, a novel Shank binding partner
    Seon‐Myung Kim, Kyu Yeong Choi, In Ha Cho, Jin Hee Rhy, Sung Hyun Kim, Chul‐Seung Park, Eunjoon Kim, Woo Keun Song · 2009 · Journal of Neurochemistry
  92. Dose-dependent effect of risperidone treatment in a case of 22q13.3 deletion syndrome
    Augusto Pasini, Elisa D’Agati, Livia Casarelli, Paolo Curatolo · 2009 · Brain and Development
  93. Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22
    Roberta Battini, Agatino Battaglia, Veronica Bertini, Giovanni Cioni, Barbara Parrini, Erika Rapalini, Paolo Simi, Francesca Tinelli, Angelo Valetto · 2004 · American Journal of Medical Genetics Part A
  94. Prospective longitudinal overnight video-EEG evaluation in Phelan–McDermid Syndrome
    Omar I. Khan, Xiangping Zhou, Jill Leon, Riley Kessler, Thomas Gaughan, Precilla D’Souza, Andrea Lynne Gropman, Ninette Cohen, Owen M. Rennert, Ashura Williams Buckley et al. · 2018 · Epilepsy & Behavior
  95. CaMKII Phosphorylation Regulates Synaptic Enrichment of Shank3
    Jaehoon Jeong, Yan Li, Katherine W. Roche · 2021 · eNeuro
  96. Recent developments in Phelan–McDermid syndrome research: an update on cognitive development, communication and psychiatric disorders
    Annick Vogels, Gilles Droogmans, Elfi Vergaelen, Griet Van Buggenhout, Ann Swillen · 2020 · Current Opinion in Psychiatry
  97. Targeting Shank3 deficiency and paresthesia in autism spectrum disorder: A brief review
    Min Huang, Qi Qi, Tao Xu · 2023 · Frontiers in Molecular Neuroscience
  98. Defective AMPA-mediated synaptic transmission and morphology in human neurons with hemizygous SHANK3 deletion engrafted in mouse prefrontal cortex
    Simone Chiola, Kandy L. Napan, Yueqi Wang, Roman M. Lazarenko, Celeste J. Armstrong, Jun Cui, Aleksandr Shcheglovitov · 2021 · Molecular Psychiatry
  99. Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures
    Lavanya Jain, Lindsay M. Oberman, Laura Beamer, Lauren Cascio, Melanie M. May, Sujata Srikanth, Cindy D. Skinner, Kelly L. Jones, Bridgette A. Moffitt, Curtis R. Rogers et al. · 2021 · Clinical Genetics
  100. A proof-of-concept study of growth hormone in children with Phelan–McDermid syndrome
    Swathi Sethuram, Tess Levy, Jennifer H. Foss‐Feig, Danielle B. Halpern, Sven Sandin, Paige M. Siper, H. Walker, Joseph D. Buxbaum, Robert Rapaport, Alexander Kolevzon · 2022 · Molecular Autism