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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1934 1
1946 1
1947 6
1948 7
1949 5
1950 9
1951 8
1952 8
1953 5
1954 7
1955 4
1956 7
1957 4
1958 8
1959 7
1960 9
1961 13
1962 7
1963 5
1964 2
1965 6
1966 6
1967 14
1968 10
1969 13
1970 8
1971 11
1972 13
1973 10
1974 8
1975 7
1976 12
1977 11
1978 4
1979 3
1980 5
1981 15
1982 5
1983 9
1984 5
1985 6
1986 4
1987 7
1988 6
1989 4
1990 11
1991 5
1992 9
1993 6
1994 9
1995 10
1996 7
1997 21
1998 27
1999 28
2000 28
2001 31
2002 25
2003 24
2004 48
2005 58
2006 55
2007 61
2008 50
2009 26
2010 28
2011 25
2012 24
2013 25
2014 24
2015 30
2016 25
2017 27
2018 29
2019 37
2020 42
2021 38
2022 34
2023 12

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1,207 results

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Page 1
Application of Next Generation Sequencing in Laboratory Medicine.
Zhong Y, Xu F, Wu J, Schubert J, Li MM. Zhong Y, et al. Among authors: schubert j. Ann Lab Med. 2021 Jan;41(1):25-43. doi: 10.3343/alm.2021.41.1.25. Epub 2020 Aug 25. Ann Lab Med. 2021. PMID: 32829577 Free PMC article. Review.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu… See abstract for full author list ➔ Johannesen KM, et al. Among authors: schubert j. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
The genetic architecture of pediatric cardiomyopathy.
Ware SM, Bhatnagar S, Dexheimer PJ, Wilkinson JD, Sridhar A, Fan X, Shen Y, Tariq M, Schubert JA, Colan SD, Shi L, Canter CE, Hsu DT, Bansal N, Webber SA, Everitt MD, Kantor PF, Rossano JW, Pahl E, Rusconi P, Lee TM, Towbin JA, Lal AK, Chung WK, Miller EM, Aronow B, Martin LJ, Lipshultz SE; Pediatric Cardiomyopathy Registry Study Group. Ware SM, et al. Among authors: schubert ja. Am J Hum Genet. 2022 Feb 3;109(2):282-298. doi: 10.1016/j.ajhg.2021.12.006. Epub 2022 Jan 12. Am J Hum Genet. 2022. PMID: 35026164 Free PMC article.
Biomarkers.
Buszewski B, Schubert J. Buszewski B, et al. Among authors: schubert j. Anal Bioanal Chem. 2011 Oct;401(7):2037-8. doi: 10.1007/s00216-011-5295-6. Anal Bioanal Chem. 2011. PMID: 21837466 No abstract available.
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, Dubois F, Ramsey K, Narayanan V, Serratosa JM, Giraldez BG, Helbig I, Marsh E, O'Brien M, Bergqvist CA, Binelli A, Porter B, Zaeyen E, Horovitz DD, Wolff M, Marjanovic D, Caglayan HS, Arslan M, Pena SDJ, Sisodiya SM, Balestrini S, Syrbe S, Veggiotti P, Lemke JR, Møller RS, Lerche H, Rubboli G. Masnada S, et al. Among authors: schubert j. Brain. 2017 Sep 1;140(9):2337-2354. doi: 10.1093/brain/awx184. Brain. 2017. PMID: 29050392 Free article.
Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.
Krüger J, Schubert J, Kegele J, Labalme A, Mao M, Heighway J, Seebohm G, Yan P, Koko M, Aslan-Kara K, Caglayan H, Steinhoff BJ, Weber YG, Keo-Kosal P, Berkovic SF, Hildebrand MS, Petrou S, Krause R, May P, Lesca G, Maljevic S, Lerche H. Krüger J, et al. Among authors: schubert j. EBioMedicine. 2022 Oct;84:104244. doi: 10.1016/j.ebiom.2022.104244. Epub 2022 Sep 9. EBioMedicine. 2022. PMID: 36088682 Free PMC article.
1,207 results