- HLBS-PopOmics -
Last Posted: Apr 25, 2019
- A Genome-Wide Association Study implicates
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
- Testing for Hereditary Predisposition in Patients with Gynecologic Cancers, Quo Vadis?
Mitchell Gillian et al. Surgical pathology clinics 2016 Jun 9(2) 301-6
- 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
- Chemokine-enhanced chemotaxis of lymphangioleiomyomatosis cells with mutations in the tumor suppressor TSC2 gene.
Pacheco-Rodriguez Gustavo, et al. Journal of immunology (Baltimore, Md. : 1950) 2009 2 (3) 1270-7
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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.