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Listed below are publications that are associated with the projects identified on our website, or for related activities in which PTEN Research (or its forerunner organisation) have been acknowledged.


  1. Hendricks, L. A. J., Schuurs-Hoeijmakers, J., Spier, I., Haadsma, M. L., Eijkelenboom, A., Cremer, K., … Hoogerbrugge, N. (2022). Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review. European Journal of Medical Genetics, 65(7), 104533. doi: 10.1016/j.ejmg.2022.104533
  2. Kobialka, P., Sabata, H., Vilalta, O., Gouveia, L., Angulo‐Urarte, A., Muixí, L., … Graupera, M. (2022). The onset of PI3K-related vascular malformations occurs during angiogenesis and is prevented by the AKT inhibitor miransertib. EMBO Molecular Medicine. doi: 10.15252/EMMM.202115619
  3. Monelli, E., Villacampa, P., Zabala-Letona, A., Martinez-Romero, A., Llena, J., Beiroa, D., … Graupera, M. (2022). Angiocrine polyamine production regulates adiposity. Nature Metabolism, 4(3), 327–343. doi: 10.1038/S42255-022-00544-6
  4. Morgan, F. C., Yehia, L., McDonald, C., Martinez-Agosto, J. A., Hardan, A. Y., Tamburro, J., … Eng, C. (2022). Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: Results of a multicenter cohort study. Journal of the American Academy of Dermatology. doi: 10.1016/J.JAAD.2022.01.045
  5. Srivastava, S., Jo, B., Zhang, B., Frazier, T., Gallagher, A. S., Peck, F., … Hardan, A. (2022). A randomized controlled trial of Everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome. Human Molecular Genetics. doi: 10.1093/HMG/DDAC111
  6. Uljarević, M., Frazier, T. W., Rached, G., Busch, R. M., Klaas, P., Srivastava, S., … Hardan, A. Y. (2022). Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations. Journal of Autism and Developmental Disorders, 52(1), 414–422. doi: 10.1007/s10803-021-04881-5
  7. Yehia, L., Ni, Y., Sadler, T., Frazier, T. W., & Eng, C. (2022). Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations. NPJ Genomic Medicine, 7(1). doi: 10.1038/S41525-022-00289-X


  1. Hardan, A. Y., Jo, B., Frazier, T. W., Klaas, P., Busch, R. M., Dies, K. A., … Sahin, M. (2021). A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations. Contemporary Clinical Trials Communications, 21. doi: 10.1016/j.conctc.2021.100733
  2. Hendricks, L. A. J., Hoogerbrugge, N., Schuurs-Hoeijmakers, J. H. M., & Vos, J. R. (2021, February 1). A review on age-related cancer risks in PTEN hamartoma tumor syndrome. Clinical Genetics, Vol. 99, pp. 219–225. Blackwell Publishing Ltd. doi: 10.1111/cge.13875
  3. Jia, M., Sangwan, N., Tzeng, A., & Eng, C. (2021). Interplay Between Class II HLA Genotypes and the Microbiome and Immune Phenotypes in Individuals With PTEN Hamartoma Tumor Syndrome. JCO Precision Oncology, 5(5), 357–369. doi: 10.1200/PO.20.00374
  4. Kaymakcalan, H., Kaya, İ., Cevher Binici, N., Nikerel, E., Özbaran, B., Görkem Aksoy, M., … Ercan-Sencicek, A. G. (2021). Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly. Molecular Genetics & Genomic Medicine, 9(8). doi: 10.1002/MGG3.1739
  5. Steele, M., Uljarević, M., Rached, G., Frazier, T. W., Phillips, J. M., Libove, R. A., … Hardan, A. Y. (2021). Psychiatric Characteristics Across Individuals With PTEN Mutations. Frontiers in Psychiatry, 12. doi: 10.3389/FPSYT.2021.672070
  6. Yehia, L., & Eng, C. (2021). PTEN Hamartoma Tumor Syndrome. Gene Reviews NCBI Bookshelf. Retrieved from
  7. Yehia, L., & Eng, C. (2021). PTEN hamartoma tumour syndrome: what happens when there is no PTEN germline mutation? Human Molecular Genetics, Vol. 29, pp. R150–R157. Oxford University Press. doi: 10.1093/HMG/DDAA127


  1. Frazier, T. W., Jaini, R., Busch, R. M., Wolf, M., Sadler, T., Klaas, P., … Eng, C. (2020). Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism. Molecular Autism, 12, 5. doi: 10.1186/s13229-020-00406-6
  2. Mighell, T. L., Thacker, S., Fombonne, E., Eng, C., & O’Roak, B. J. (2020). An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships. American Journal of Human Genetics, 106(6), 818–829. doi: 10.1016/j.ajhg.2020.04.014
  3. Novelli, G., Novelli, A., Borgiani, P., Cocciadiferro, D., Biancolella, M., Agolini, E., … Pandolfi, P. P. (2020). WWP1 germline variants are associated with normocephalic autism spectrum disorder. Cell Death Dis, 11(7), 529. doi: 10.1038/s41419-020-2681-z
  4. Shao, D. D., Achkar, C. M., Lai, A., Srivastava, S., Doan, R. N., Rodan, L. H., … Tan, W. H. (2020). Polymicrogyria is Associated With Pathogenic Variants in PTEN. Annals of Neurology, 88(6), 1153–1164. doi: 10.1002/ANA.25904
  5. Tischkowitz, M., Colas, C., Pouwels, S., Hoogerbrugge, N., PHTS Guideline Development Group, & The European Reference Network GENTURIS. (2020). Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome. European Journal of Human Genetics, 28, 1387–1393. doi: 10.1038/s41431-020-0651-7
  6. Yehia, L., Seyfi, M., Niestroj, L. M., Padmanabhan, R., Ni, Y., Frazier, T. W., … Eng, C. (2020). Copy Number Variation and Clinical Outcomes in Patients with Germline PTEN Mutations. JAMA Network Open, 3(1). doi: 10.1001/jamanetworkopen.2019.20415


  1. Álvarez-Garcia, V., Tawil, Y., Wise, H. M., & Leslie, N. R. (2019). Mechanisms of PTEN loss in cancer: It’s all about diversity. Seminars in Cancer Biology, 59, 66–79. doi: 10.1016/J.SEMCANCER.2019.02.001
  2. Busch, R. M., Srivastava, S., Hogue, O., Frazier, T. W., Klaas, P., Hardan, A., … Eng, C. (2019). Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN. Transl Psychiatry, 9(1), 253. doi: 10.1038/s41398-019-0588-1
  3. Yehia, L., Ngeow, J., & Eng, C. (2019). PTEN-opathies: from biological insights to evidence-based precision medicine. J Clin Invest, 129(2), 452–464. doi: 10.1172/JCI121277


  1. Leslie, N. R. (2017). Importin-11 keeps PTEN safe from harm. The Journal of Cell Biology, 216(3), 539. doi: 10.1083/JCB.201612014