A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Helsmoortel, Céline, Vulto-van Silfhout, Anneke T, Coe, Bradley P, Vandeweyer, Geert, Rooms, Liesbeth, van den Ende, Jenneke, Schuurs-Hoeijmakers, Janneke H M, Marcelis, Carlo L +17 more·2014·Nature Genetics
DOI 10.1038/ng.2899

Cited by (356)

Items 301–356 of 356

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  5. Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP
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  10. DELETION 1p36 SYNDROME
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  11. De Novo , Post-Zygotic, Inter-Tissue Mosaicism of Cell Autonomous ADNP Mutations in Autistic Individuals: Restricted Environmental Contribution
    Mohiuddin Mohiuddin, Zlatko Marušić, Mirna Aničić, Anke Van Dijck, Elisa Cappuyns, Ludovico Rizzuti, Alessandro Vitriolo, Gal Hacohen-Kleiman, Iris Grigg, Giuseppe Testa et al. · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  12. Editorial: A Child with ADNP Syndrome: A Case Study of Symptoms, Diagnostic Process and Innovative Behavioral Intervention Modes
    Miroslav Holec, Illana Gozes · 2025 · Journal of Molecular Neuroscience
  13. Deletion 1p36 Syndrome
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  14. Schizophrenia
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  15. A contemporary view on the molecular basis of neurodevelopmental disorders
    Ilse M. van der Werf, Geert Vandeweyer, R. Frank Kooy · 2019 · Elsevier eBooks
  16. Le syndrome ADNP (protéine neuroprotectrice dépendante de l’activité) lié à la déficience intellectuelle et aux troubles du spectre autistique : une revue de la littérature
    Cora Cravero, Illana Gozes, Carole Herman, Alain Verloès, Vincent Guinchat, Lautaro Diaz, Anne Mandel, J. Levine, David Cohen · 2020 · Neuropsychiatrie de l Enfance et de l Adolescence
  17. 14-3-3 shuttles Activity-dependent neuroprotective protein to the cytoplasm to promote appropriate neuronal morphogenesis, cortical connectivity and calcium signaling
    Sarah A. Bennison, Sara M. Blazejewski, Xiaonan Liu, Kazuhito Toyo‐oka · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  18. Dominant-negative mutations in CBX1 cause a neurodevelopmental disorder
    Yukiko Kuroda, Aiko Iwata‐Otsubo, Kerith‐Rae Dias, Suzanna E.L. Temple, Koji Nagao, Lachlan De Hayr, Ying Zhu, Shin-Ya Isobe, Gohei Nishibuchi, Sarah K. Fiordaliso et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  19. Autism-associated protein POGZ maintains embryonic stem cells by association with esBAF and HP1γ
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  20. Mechanisms Underlying Phenotypic Heterogeneity in Simplex Autism Spectrum Disorders
    Andrew H. Chiang · 2021
  21. PARITY NONCONSERVATION AND THE REACTION n + d $Yields$ $gamma$ + H .
    A.N. Moskalev · 1968 · OSTI OAI (U.S. Department of Energy Office of Scientific and Technical Information)
  22. A theory inspired proposal for a novel medical treatment in autism. The cerebellar model of autism and the hypothesis of dorsal stream dysfunction: evidence from idiopathic and syndromic cases.
    Costa Vakalopoulos · 2017
  23. A theory inspired proposal for a novel medical treatment in autism. The cerebellar model of autism and the hypothesis of dorsal stream dysfunction: evidence from idiopathic and syndromic cases.
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  24. Helsmoortel-Van der Aa syndrome – psychophysical functioning of patient and therapeutic management (case report)
    Aleksandra Mariola Kołecka, Barbara Kołecka · 2023 · Research Square
  25. guidedNOMe-seq quantifies chromatin states at single allele resolution for hundreds of custom regions in parallel.
    Michaela Schwaiger, Fabio Mohn, Marc Bühler, Lucas J. T. Kaaij · 2024 · Research Square
  26. Epigenetic Mechanisms of Autism Spectrum Disorders
    Zhen Yan · 2024 · Springer eBooks
  27. Disruption of ADNP-KDM1A-GTF2I complex drives neural differentiation imbalance in Helsmoortel-Van der Aa syndrome
    Ludovico Rizzuti, Alessandro Vitriolo, Pelicano de Almeida Mariana, Marlene F. Pereira, Lize Meert, Francesco Dossena, Filippo Prazzoli, Mike R. Dekker, Dick H. W. Dekkers, Jeroen Demmers et al. · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  28. Methylation Profiling Provides Decisive Functional Evidence for Reclassifying an Adnp Variant of Uncertain Significance
    Gleyson Francisco da Silva Carvalho, Beatriz Martins Wolff, Lucas Liro Vieira, Mariana Ribeiro Costa, Rafaela da Silva Mendes, Eder Alencar Moura, Lissandro de Sousa Rolim, Karina Marinho Nascimento, Yanca Gasparini Oliveira, Rachel Sayuri Honjo et al. · 2025 · SSRN Electronic Journal
  29. Prospective study to analyze the yield and clinical impact of trio exome sequencing in 137 Indian children with autism spectrum disorder
    Shruti Bajaj, Shreya Gandhi, Thenral S. Geetha, Malini Venkata, Anita Chitre, Nazema Sagi, Nisha Agrawal, Suhani Shah, Ruta Deo, Sudharshana Pai et al. · 2025 · Journal of Human Genetics
  30. Autism Spectrum Disorders and Alzheimer's Disease
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  31. The Mediating Role of Structural Connectivity in Genetic Effects on Functional Brain Networks
    Simiao Gao, Shengxian Ding, Xinzhi Zhang, Zhiling Gu, Yize Zhao · 2025 · medRxiv
  32. Missense Mutation ADNP p.C687R Disrupts Chromatin Regulation and GABAergic Differentiation in HVDAS
    Qi Chen, Xixi Liu, Mengnan Wu, Daijing Sun, Xingyu Ding, Mengling Zhou, Wenzhu Peng, Yan Cheng, Biqing Xue, Ning Tang et al. · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  33. Stem cell-based approach to identify regulatory TFs during mammalian cell differentiation
    Yingzhen Pei, Siyi Li, Görkem Garipler, Kenji Kamimoto, Esteban O. Mazzoni · 2025 · Stem Cell Reports
  34. Additional file 6 of Clinical impact and in vitro characterization of ADNP variants in pediatric patients
    Chuanhui Ge, Tian, Yuxin, Chunchun Hu, Lianni Mei, Dongyun Li, Dong, Ping, Zhang, Ying, Li, Huiping, Sun, Daijing, Peng, Wenzhu et al. · 2024 · Figshare
  35. Additional file 3 of Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder
    Regev, Ohad, Apurba Shil, Tal Bronshtein, Amnon Hadar, Gal Meiri, Dikla Zigdon, Analya Michaelovski, Reli Hershkovitz, Idan Menashe · 2024 · Figshare
  36. Additional file 4 of Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder
    Regev, Ohad, Apurba Shil, Tal Bronshtein, Amnon Hadar, Gal Meiri, Dikla Zigdon, Analya Michaelovski, Reli Hershkovitz, Idan Menashe · 2024 · Figshare
  37. Additional file 2 of guidedNOMe-seq quantifies chromatin states at single allele resolution for hundreds of custom regions in parallel
    Michaela Schwaiger, Fabio Mohn, Marc Bühler, Lucas J. T. Kaaij · 2024 · Figshare
  38. Additional file 7 of Clinical impact and in vitro characterization of ADNP variants in pediatric patients
    Chuanhui Ge, Tian, Yuxin, Chunchun Hu, Lianni Mei, Dongyun Li, Dong, Ping, Zhang, Ying, Li, Huiping, Sun, Daijing, Peng, Wenzhu et al. · 2024 · Figshare
  39. Additional file 1 of Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions
    Emily Neuhaus, Hannah M. Rea, Elizabeth D. Jones, Hannah R. Benavidez, Conor Miles, Alana Whiting, Margaret Johansson, Curtis Eayrs, Evangeline C. Kurtz‐Nelson, Rachel K. Earl et al. · 2024 · Figshare
  40. Additional file 2 of Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder
    Regev, Ohad, Apurba Shil, Tal Bronshtein, Amnon Hadar, Gal Meiri, Dikla Zigdon, Analya Michaelovski, Reli Hershkovitz, Idan Menashe · 2024 · Figshare
  41. Additional file 1 of Clinical impact and in vitro characterization of ADNP variants in pediatric patients
    Chuanhui Ge, Tian, Yuxin, Chunchun Hu, Lianni Mei, Dongyun Li, Dong, Ping, Zhang, Ying, Li, Huiping, Sun, Daijing, Peng, Wenzhu et al. · 2024 · Figshare
  42. Additional file 8 of Clinical impact and in vitro characterization of ADNP variants in pediatric patients
    Chuanhui Ge, Tian, Yuxin, Chunchun Hu, Lianni Mei, Dongyun Li, Dong, Ping, Zhang, Ying, Li, Huiping, Sun, Daijing, Peng, Wenzhu et al. · 2024 · Figshare
  43. Additional file 4 of Clinical impact and in vitro characterization of ADNP variants in pediatric patients
    Chuanhui Ge, Tian, Yuxin, Chunchun Hu, Lianni Mei, Dongyun Li, Dong, Ping, Zhang, Ying, Li, Huiping, Sun, Daijing, Peng, Wenzhu et al. · 2024 · Figshare
  44. Additional file 1 of guidedNOMe-seq quantifies chromatin states at single allele resolution for hundreds of custom regions in parallel
    Michaela Schwaiger, Fabio Mohn, Marc Bühler, Lucas J. T. Kaaij · 2024 · Figshare
  45. Additional file 5 of Clinical impact and in vitro characterization of ADNP variants in pediatric patients
    Chuanhui Ge, Tian, Yuxin, Chunchun Hu, Lianni Mei, Dongyun Li, Ping Dong, Zhang, Ying, Li, Huiping, Sun, Daijing, Peng, Wenzhu et al. · 2024 · Figshare
  46. Additional file 2 of Clinical impact and in vitro characterization of ADNP variants in pediatric patients
    Chuanhui Ge, Tian, Yuxin, Chunchun Hu, Lianni Mei, Dongyun Li, Ping Dong, Zhang, Ying, Li, Huiping, Sun, Daijing, Peng, Wenzhu et al. · 2024 · Figshare
  47. Additional file 1 of Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder
    Regev, Ohad, Apurba Shil, Tal Bronshtein, Amnon Hadar, Gal Meiri, Dikla Zigdon, Analya Michaelovski, Reli Hershkovitz, Idan Menashe · 2024 · Figshare
  48. Additional file 3 of Clinical impact and in vitro characterization of ADNP variants in pediatric patients
    Chuanhui Ge, Tian, Yuxin, Chunchun Hu, Lianni Mei, Dongyun Li, Ping Dong, Zhang, Ying, Li, Huiping, Sun, Daijing, Peng, Wenzhu et al. · 2024 · Figshare
  49. Additional file 9 of Clinical impact and in vitro characterization of ADNP variants in pediatric patients
    Chuanhui Ge, Tian, Yuxin, Chunchun Hu, Lianni Mei, Dongyun Li, Dong, Ping, Zhang, Ying, Li, Huiping, Sun, Daijing, Peng, Wenzhu et al. · 2024 · Figshare
  50. Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions
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  51. Adnp2 promotes neural induction by antagonizing the ved and vent homeobox genes
    Yongxin Wang, Yuqing Cao, Ming Duan, Yuhua Sun · 2026 · Development
  52. Génétique et physiopathologie du syndrome de Lowe, analyse des aspects neurologiques
    Anne Héritier · 2019 · theses.fr (ABES)
  53. ADNP-Related Neurodevelopmental Disorder: The First Turkish Case Series with Novel Variants and Reduced Intrafamilial Penetrance
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  54. ADNP ‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring
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  55. Directing GABAergic neuronal identity from human iPSCs through developmental patterning
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  56. Syndromic Autism in Helsmoortel–Van der Aa Syndrome: From Clinical Suspicion to Genetic Diagnosis
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