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Year Number of Results
1894 1
1896 2
1898 1
1899 1
1961 1
1962 1
1963 2
1964 1
1966 2
1967 1
1969 2
1970 3
1971 1
1972 2
1973 1
1974 1
1975 2
1979 2
1980 1
1982 1
1987 1
1990 2
1994 1
1996 1
1999 5
2000 2
2001 1
2002 1
2003 3
2004 1
2005 2
2007 1
2008 3
2014 1
2018 1
2019 10
2020 15
2021 12
2022 14
2023 28
2024 25
2025 14

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163 results

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Page 1
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Xian J, et al. Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. Brain. 2022. PMID: 35190816 Free PMC article.
Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts.
Dratch L, Azage M, Baldwin A, Johnson K, Paul RA, Bardakjian TM, Michon SC, Amado DA, Baer M, Deik AF, Elman LB, Gonzalez-Alegre P, Guo MH, Hamedani AG, Irwin DJ, Lasker A, Orthmann-Murphy J, Quinn C, Tropea TF, Scherer SS, Ellis CA. Dratch L, et al. J Neurol. 2024 Feb;271(2):733-747. doi: 10.1007/s00415-023-12058-6. Epub 2023 Oct 27. J Neurol. 2024. PMID: 37891417 Free PMC article. Review.
Genome-wide association meta-analyses of drug-resistant epilepsy.
Leu C, Avbersek A, Stevelink R, Custodio HM, Chen S, Speed D, Bennett CA, Jonsson L, Unnsteinsdóttir U, Jorgensen AL, Cavalleri GL, Delanty N, Craig JJ, Depondt C, Johnson MR, Koeleman BPC, Hassanin E, Omidvar ME, Krause R, Lerche H, Marson AG, O'Brien TJ, Sander JW, Sills GJ, Striano P, Zara F, Stefansson H, Stefansson K, May P, Neale BM, Lal D, Berkovic SF; Epi25 Collaborative; EpiPGX Consortium; Sisodiya SM. Leu C, et al. EBioMedicine. 2025 May;115:105675. doi: 10.1016/j.ebiom.2025.105675. Epub 2025 Apr 15. EBioMedicine. 2025. PMID: 40240269 Free PMC article.
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
Stamberger H, Crosiers D, Balagura G, Bonardi CM, Basu A, Cantalupo G, Chiesa V, Christensen J, Dalla Bernardina B, Ellis CA, Furia F, Gardiner F, Giron C, Guerrini R, Klein KM, Korff C, Krijtova H, Leffler M, Lerche H, Lesca G, Lewis-Smith D, Marini C, Marjanovic D, Mazzola L, McKeown Ruggiero S, Mochel F, Ramond F, Reif PS, Richard-Mornas A, Rosenow F, Schropp C, Thomas RH, Vignoli A, Weber Y, Palmer E, Helbig I, Scheffer IE, Striano P, Møller RS, Gardella E, Weckhuysen S. Stamberger H, et al. Neurology. 2022 Jul 19;99(3):e221-e233. doi: 10.1212/WNL.0000000000200715. Epub 2022 Jun 3. Neurology. 2022. PMID: 35851549 Free PMC article.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Koop K, et al. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
Heparin-induced hyponatremia.
Norman NE, Sneed AM, Brown C, Ellis CA, Minard G, Brown RO. Norman NE, et al. Ann Pharmacother. 2004 Mar;38(3):404-7. doi: 10.1345/aph.1C442. Epub 2004 Jan 12. Ann Pharmacother. 2004. PMID: 14742828
163 results