Last Posted: Sep 23, 2021
- Tuberous Sclerosis: Current Update.
Wang Mindy X et al. Radiographics : a review publication of the Radiological Society of North America, Inc 2021 210103
- Machine learning can predict disease manifestations and outcomes in lymphangioleiomyomatosis.
Chernbumroong Saisakul et al. The European respiratory journal 2020 Dec
- Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex.
Tian Xinlun, et al. Annals of the American Thoracic Society 2020 11
- A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis.
Kim Wonji, et al. The European respiratory journal 2019 4
- The vitamin D binding protein axis modifies disease severity in lymphangioleiomyomatosis.
Miller Suzanne, et al. The European respiratory journal 2018 8
- CLINGEN Actionability Report for Tuberous Sclerosis Complex (TSC)-TSC1, TSC2
ClinGen Actionability Working Group
- Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis.
Suspitsin Evgeny N, et al. Journal of human genetics 2018 2
- TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.
Kingswood John C et al. Orphanet journal of rare diseases 2017 Jan 12(1) 2
- Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.
Giannikou Krinio, et al. PLoS genetics 2016 8 (8) e1006242
- Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis.
Di Marco Fabiano, et al. PloS one 2016 0 (5) e0155331
HLBS-PopOmics is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other materials that address the translation of genomic and other precision health discoveries into improved health care and prevention related to Heart and Vascular Diseases(H), Lung Diseases(L), Blood Diseases(B), and Sleep Disorders(S)...more
Mensah GA, Yu W, Barfield WL, Clyne M, Engelgau MM, Khoury MJ. HLBS-PopOmics: an online knowledge base to accelerate dissemination and implementation of research advances in population genomics to reduce the burden of heart, lung, blood, and sleep disorders. Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0118-1
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.