De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Finding of Rare Disease Genes (FORGE) Canada Consortium, Rivière, Jean-Baptiste, Mirzaa, Ghayda M, O'Roak, Brian J, Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L, St-Onge, Judith +33 more·2012·Nature Genetics
DOI 10.1038/ng.2331

Cited by (742)

Items 701–742 of 742

  1. Additional file 3 of Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
    Nicole Revençu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Armstrong, Judith, Eulàlia Baselga, Claudia Cesario, Dentici, Maria Lisa, Mélanie Eyries, Sofia Frisk et al. · 2024 · Figshare
  2. Additional file 1 of Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations
    Pascal Brouillard, Matthieu J. Schlögel, Nassim Homayun Sepehr, Raphaël Helaers, Angela Queisser, Elodie Fastré, Simon Boutry, Schmitz, Sandra, Clapuyt, Philippe, Frank Hammer et al. · 2021 · Figshare
  3. Additional file 2 of Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations
    Zhang, Bin, Rui He, Xu, Zigang, Yujuan Sun, Wei, Li, Li, Li, Yuanxiang Liu, Guo, Wu, Song, Li, Wang, Huijun et al. · 2023 · Figshare
  4. Additional file 1 of Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations
    Zhang, Bin, Rui He, Xu, Zigang, Yujuan Sun, Wei, Li, Li, Li, Yuanxiang Liu, Guo, Wu, Song, Li, Wang, Huijun et al. · 2023 · Figshare
  5. Additional file 1 of Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects
    Li, Qun, Zhao, Lin, Yang Zeng, Kuang, Yanping, Yichun Guan, Biaobang Chen, Shiru Xu, Tang, Bin, Ling Wu, Xiaoyan Mao et al. · 2024 · Figshare
  6. Additional file 4 of Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations
    Bin Zhang, Rui He, Xu, Zigang, Yujuan Sun, Wei, Li, Li, Li, Yuanxiang Liu, Guo, Wu, Song, Li, Wang, Huijun et al. · 2023 · Figshare
  7. Additional file 1 of Hippocampal granule cell dispersion: a non-specific finding in pediatric patients with no history of seizures
    Achira Roy, Kathleen J. Millen, Kapur, Raj P. · 2020 · Figshare
  8. Additional file 3 of EM-mosaic detects mosaic point mutations that contribute to congenital heart disease
    Hsieh, Alexander, Sarah U. Morton, Jon Willcox, Joshua Gorham, Angela C. Tai, Hongjian Qi, Steven R. DePalma, David M. McKean, Emily Griffin, Kathryn B. Manheimer et al. · 2020 · Figshare
  9. Additional file 1 of An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia
    Alena Welters, Leiter, Sarah M, Bachmann, Nadine, Bergmann, Carsten, Henrike Hoermann, Eckhard Korsch, Meissner, Thomas, Felicity Payne, Rachel M. Williams, Khalid Hussain et al. · 2023 · Figshare
  10. Additional file 2 of Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects
    Li, Qun, Zhao, Lin, Yang Zeng, Kuang, Yanping, Yichun Guan, Biaobang Chen, Shiru Xu, Tang, Bin, Ling Wu, Xiaoyan Mao et al. · 2024 · Figshare
  11. Additional file 2 of Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
    Nicole Revençu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Armstrong, Judith, Eulàlia Baselga, Claudia Cesario, Dentici, Maria Lisa, Mélanie Eyries, Sofia Frisk et al. · 2024 · Figshare
  12. Additional file 1 of Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel–Trenaunay syndrome in an Asian population
    Yuki Sasaki, Ishikawa, Kosuke, Hatanaka, Kanako C., Yumiko Oyamada, Sakuhara, Yusuke, Tadashi Shimizu, Tatsuro Saito, Naoki Murao, Onodera, Tomohiro, Miura, Takahiro et al. · 2024 · Figshare
  13. Additional file 2 of EM-mosaic detects mosaic point mutations that contribute to congenital heart disease
    Alexander Hsieh, Sarah U. Morton, Jon Willcox, Joshua Gorham, Angela C. Tai, Hongjian Qi, Steven R. DePalma, David M. McKean, Emily Griffin, Kathryn B. Manheimer et al. · 2020 · Figshare
  14. Additional file 1 of Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
    Nicole Revençu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Armstrong, Judith, Eulàlia Baselga, Claudia Cesario, Dentici, Maria Lisa, Mélanie Eyries, Sofia Frisk et al. · 2024 · Figshare
  15. Additional file 1 of AKT inhibition in the central nervous system induces signaling defects resulting in psychiatric symptomatology
    Tsimberidou, Apostolia-Maria, Antonis Skliris, Alan D. Valentine, Jamie V. Shaw, Ursula Hering, Henry Hiep Vo, Chan, Tung On, Roger S. Armen, Jeffrey R. Cottrell, Jen Q. Pan et al. · 2022 · Figshare
  16. Additional file 3 of Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations
    Zhang, Bin, Rui He, Xu, Zigang, Yujuan Sun, Wei, Li, Li, Li, Yuanxiang Liu, Guo, Wu, Song, Li, Wang, Huijun et al. · 2023 · Figshare
  17. Additional file 4 of Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
    Nicole Revençu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Armstrong, Judith, Eulàlia Baselga, Claudia Cesario, Dentici, Maria Lisa, Mélanie Eyries, Sofia Frisk et al. · 2024 · Figshare
  18. Genetic Insights in Hindbrain Abnormalities Through Network Analysis Expose Key Biological Pathways in Hindbrain Development
    Suus A.M. van Noort, Deborah A. Sival, Dineke S. Verbeek · 2025 · The Cerebellum
  19. Clinical manifestations of chromosome 19p13.11 duplication
    Dibyendu Dutta, Megan Keeney, Nicole Matthews, Kristina Peron, Alali Abdulrazak, Ariel F. Martinez, Bobbi McGivern, Claire A. Boring, Scott C. Smith, Ria Garg · 2026 · Journal of Medical Genetics
  20. Polymicrogyria with Epilepsy and Macrocephaly: A Unique Genetic Cause
    Kirti Kiron Pai, Shagun Singh, Sameer Vyas, Simran Vaidya, Arushi Gahlot Saini · 2026 · International Journal of Epilepsy
  21. Molecular Characterization of Vascular Anomalies Tissues Guides Clinical Diagnosis
    Scott B. Henslee, Whitney L. Wooderchak‐Donahue, Johanes Fred Grimmer, Philippe Szankasi, Ashini Bolia, Alice Frigerio, David A. Stevenson, Josue Amilcar Flores Daboub, Pınar Bayrak‐Toydemir · 2026 · Lymphatic Research and Biology
  22. Clinical, Psychosocial, and Care Coordination Concerns in Macrocephaly Capillary Malformation Syndrome: Insights From a Large International Survey
    Melanie Bryan, Sally Cohen‐Cutler, Katherine A. King, Maithilee D. Menezes, Stephanie E. Milam, Christine Bereitschaft, Anna M. Kerr, Bryan Anthony Sisk · 2026 · Pediatric Blood & Cancer
  23. Astrocitoma pilocítico concomitante a hidranencefalia: Primer caso reportado en Colombia
    Juan S. Serna-Trejos, Stefanya Geraldine Bermúdez–Moyano, Juan F. Fandiño-Giraldo, Christian Francisco Acosta-Acosta, Stefhania Orozco-Gonzalez, Vanessa Mejía – Nates · 2024 · Health Care & Global Health
  24. Molecular Characteristics of the Endometrium in Polycystic Ovary Syndrome with Insulin Resistance
    Yingying Wang, Hongqing ZHANG, Yijie Hui, Yajuan Zhang, Hongying Shan · 2026 · Reproductive Sciences
  25. Microcephaly-causing WDR81 mutation alters endosomal trafficking of EGFR and leads to reduced progenitor cell proliferation
    Jacopo Amerigo Carpentieri · 2020 · theses.fr (ABES)
  26. Mechanisms of spontaneous loss of heterozygosity in adult stem cells
    Lara Al-Zoubi · 2020 · theses.fr (ABES)
  27. Exploring the Anti-Fatigue Mechanism of Dendrobium officinale Based on Network Pharmacology and Molecular Docking
    潇 林 · 2026 · Traditional Chinese Medicine
  28. Role of brain somatic mutations in epileptogenic malformations
    Lina Sami · 2024
  29. PIK3CA-related overgrowth spectrum (PROS) zebrafish models reveal pan-lineage developmental dysregulation
    Hannah Brunsdon, Nuoya Wang, Micha Sam Brickman Raredon, Ralitsa Radostinova Madsen, Robert K. Semple, E. Elizabeth Patton · 2026 · eLife
  30. Humangenetische Diagnostik
    Laura Grohs, Felix Marbach, Stefan Aretz · 2026 · Die Pathologie
  31. Current status of genetic testing and mosaic variant assessment in somatic overgrowth and vascular anomalies: Insights from the Cancer Genomics Consortium Working Group
    Avinash V. Dharmadhikari, Candace T. Myers, Katherine A. King, Bahareh Mojarad, Ying‐Chen Claire Hou, Jie Liu, Patricia V. Hernandez, Lea F. Surrey, Kevin E. Fisher, Adrienne M. Hammill et al. · 2026 · Genetics in Medicine
  32. Severe Unilateral Hand Reduction Defect With a Central Cleft in a Child With Megalencephaly‐Capillary Malformation Syndrome
    Takeshi Yaga, Kohei Kashima, Hiroyuki Ikeda, Tadashi Shiohama · 2026 · Congenital Anomalies
  33. Genome-wide CRISPRi screen in human iNeurons identifies novel negative mTOR regulator genes associated with focal cortical dysplasia
    Andrew M. Tidball, Jinghui Luo, J. Clayton Walker, Taylor N. Takla, Gemma L. Carvill, Jack M. Parent · 2026 · Neurobiology of Disease
  34. Somatic mosaicism in the brain: linking development, ageing and neurodegeneration
    Zinan Zhou, Christopher A. Walsh · 2026 · Nature Reviews Neurology
  35. Advances in the Targeted Therapy for PIK3CA‐Related Overgrowth Spectrum (PROS): From Molecular Mechanisms to Clinical Translation
    Zhu Zhu, Si‐Ming Yuan · 2026 · Pediatric Blood & Cancer
  36. From Somatic Driver to Molecular Therapy in Retinal, Choroidal and Periocular Vascular Disease: Mosaicism, Targetable Pathways and Ocular Toxicity
    Wojciech Adamski · 2026 · International Journal of Molecular Sciences
  37. Integrating deep-exome sequencing and droplet digital PCR for genetic diagnosis of 142 patients with somatic overgrowth and vascular malformation
    Karin Baltzer-Sollander, Anna Hammarsjö, Andrés Metz Erlendsson, Nader Ghaffarpour, Maria A. Karlsson, Annie Pedersén, Ove Thott, Sofia Frisk · 2026 · Journal of Medical Genetics
  38. Exploratory mRNA and microRNA profiling identifies transcriptomic alterations in the PIK3CA-related overgrowth spectrum
    Tadashi Shiohama, Mami Uegami, Yoshitaka Kubota, Hirotomo Saitsu, Mitsuhiro Kato, Jun Matsushima, Daisuke Sawada, Shoko Yoshii, Nobuyuki Mitsukawa, Hiromichi Hamada · 2026 · Frontiers in Genetics
  39. Reaping what you grow: rethinking apoptosis in cortical folding
    M. Barresi, Mary Tolcos · 2026 · Cerebral Cortex
  40. Nonsense-mediated decay constrains transposable element-driven evolutionary innovation
    Tobias Plowman, George Kassiotis · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
  41. Modeling somatic mutations associated with neurodevelopmental disorders using mosaic human brain organoids and assembloids
    Thomas L Li, Helen S. Bateup · 2026 · Current Opinion in Genetics & Development
  42. Less Well Defined or So Far Unclassifiable Patterns
    Rudolf Happle · 2013 · Springer eBooks