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Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel SMS gene variant.
Leung M, Sanchez-Castillo M, Belnap N, Naymik M, Bonfitto A, Sloan J, Hassett K, Jepsen WM, Sankaramoorthy A, Stewart TM, Foley JR, Rangasamy S, Huentelman MJ, Narayanan V, Ramsey K. Leung M, et al. Among authors: rangasamy s. Rare. 2024;2:100017. doi: 10.1016/j.rare.2023.100017. Epub 2023 Dec 13. Rare. 2024. PMID: 38770537 Free PMC article.
FGF12 copy number variant associated with epileptic encephalopathy.
Abraham A, Ramsey K, Belnap N, Szelinger S, Jepsen W, Balak C, Sanchez-Castillo M, Naymik M, Bonfitto A, Rangasamy S, Kruglyak S, Huentelman M, Narayanan V. Abraham A, et al. Among authors: rangasamy s. Clin Genet. 2024 Jul;106(1):114-115. doi: 10.1111/cge.14542. Epub 2024 May 8. Clin Genet. 2024. PMID: 38715525
Defining levels of care in cardiogenic shock.
Alvarez Villela M, Fu D, Roslin K, Smoller R, Asemota D, Miklin DJ, Kodra A, Vullaganti S, Roswell RO, Rangasamy S, Saikus CE, Kon ZN, Pierce MJ, Husk G, Stevens GR, Maybaum S. Alvarez Villela M, et al. Among authors: rangasamy s. Front Cardiovasc Med. 2023 Oct 31;10:1206570. doi: 10.3389/fcvm.2023.1206570. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 38028504 Free PMC article.
Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.
Belnap N, Price-Smith A, Ramsey K, Leka K, Abraham A, Lieberman E, Hassett K, Potu S, Rudy N, Smith K, Mikhail FM, Monaghan KG, Hendershot A, Mourmans J, Descartes M, Huentelman MJ, Sills J, Rangasamy S, Narayanan V. Belnap N, et al. Among authors: rangasamy s. Clin Genet. 2023 Nov;104(5):607-609. doi: 10.1111/cge.14408. Epub 2023 Jul 25. Clin Genet. 2023. PMID: 37491870
109 results