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

Year Number of Results
1936 1
1947 1
1948 2
1951 4
1953 2
1956 3
1957 6
1958 5
1959 5
1961 2
1962 8
1963 4
1964 6
1965 5
1966 7
1967 6
1968 2
1969 3
1970 5
1971 5
1972 10
1973 8
1974 12
1975 14
1976 7
1977 12
1978 8
1979 12
1980 6
1981 11
1982 19
1983 12
1984 10
1985 14
1986 19
1987 20
1988 25
1989 25
1990 23
1991 27
1992 29
1993 18
1994 19
1995 19
1996 21
1997 14
1998 22
1999 53
2000 19
2001 21
2002 27
2003 44
2004 39
2005 34
2006 57
2007 48
2008 52
2009 64
2010 72
2011 65
2012 64
2013 76
2014 72
2015 79
2016 76
2017 88
2018 90
2019 85
2020 99
2021 111
2022 96
2023 93
2024 81

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2,016 results

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Page 1
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Aref-Eshghi E, Kerkhof J, Pedro VP; Groupe DI France; Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B. Aref-Eshghi E, et al. Among authors: schwartz ce. Am J Hum Genet. 2020 Mar 5;106(3):356-370. doi: 10.1016/j.ajhg.2020.01.019. Epub 2020 Feb 27. Am J Hum Genet. 2020. PMID: 32109418 Free PMC article.
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K; University of Washington Center for Mendelian Genomics; Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE. Guo H, et al. Among authors: schwartz ce. Nat Commun. 2019 Oct 15;10(1):4679. doi: 10.1038/s41467-019-12435-8. Nat Commun. 2019. PMID: 31616000 Free PMC article.
Lichen Nitidus.
Schwartz C, Goodman MB. Schwartz C, et al. 2023 Jul 4. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Jul 4. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 31869173 Free Books & Documents.
Snyder-Robinson Syndrome.
Schwartz CE, Peron A, Kutler MJ. Schwartz CE, et al. 2013 Jun 27 [updated 2020 Feb 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2013 Jun 27 [updated 2020 Feb 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 23805436 Free Books & Documents. Review.
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AHM, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J Jr, Guerrini R, Dobyns WB. Mirzaa G, et al. Among authors: schwartz ce. JCI Insight. 2016 Jun 16;1(9):e87623. doi: 10.1172/jci.insight.87623. JCI Insight. 2016. PMID: 27631024 Free PMC article.
Survival and prognosis with osteosarcoma: outcomes in more than 2000 patients in the EURAMOS-1 (European and American Osteosarcoma Study) cohort.
Smeland S, Bielack SS, Whelan J, Bernstein M, Hogendoorn P, Krailo MD, Gorlick R, Janeway KA, Ingleby FC, Anninga J, Antal I, Arndt C, Brown KLB, Butterfass-Bahloul T, Calaminus G, Capra M, Dhooge C, Eriksson M, Flanagan AM, Friedel G, Gebhardt MC, Gelderblom H, Goldsby R, Grier HE, Grimer R, Hawkins DS, Hecker-Nolting S, Sundby Hall K, Isakoff MS, Jovic G, Kühne T, Kager L, von Kalle T, Kabickova E, Lang S, Lau CC, Leavey PJ, Lessnick SL, Mascarenhas L, Mayer-Steinacker R, Meyers PA, Nagarajan R, Randall RL, Reichardt P, Renard M, Rechnitzer C, Schwartz CL, Strauss S, Teot L, Timmermann B, Sydes MR, Marina N. Smeland S, et al. Among authors: schwartz cl. Eur J Cancer. 2019 Mar;109:36-50. doi: 10.1016/j.ejca.2018.11.027. Epub 2019 Jan 25. Eur J Cancer. 2019. PMID: 30685685 Free PMC article. Clinical Trial.
Helminth Modulation of Lung Inflammation.
Schwartz C, Hams E, Fallon PG. Schwartz C, et al. Trends Parasitol. 2018 May;34(5):388-403. doi: 10.1016/j.pt.2017.12.007. Epub 2018 Jan 12. Trends Parasitol. 2018. PMID: 29339033 Review.
MED12 related disorders.
Graham JM Jr, Schwartz CE. Graham JM Jr, et al. Among authors: schwartz ce. Am J Med Genet A. 2013 Nov;161A(11):2734-40. doi: 10.1002/ajmg.a.36183. Epub 2013 Oct 10. Am J Med Genet A. 2013. PMID: 24123922 Free PMC article. Review.
X-linked intellectual disability update 2017.
Neri G, Schwartz CE, Lubs HA, Stevenson RE. Neri G, et al. Among authors: schwartz ce. Am J Med Genet A. 2018 Jun;176(6):1375-1388. doi: 10.1002/ajmg.a.38710. Epub 2018 Apr 25. Am J Med Genet A. 2018. PMID: 29696803 Free PMC article. Review.
Prenatal radiation exposure: dose calculation.
Scharwächter C, Röser A, Schwartz CA, Haage P. Scharwächter C, et al. Among authors: schwartz ca. Rofo. 2015 May;187(5):338-46. doi: 10.1055/s-0034-1398817. Epub 2015 Mar 6. Rofo. 2015. PMID: 25750112 Free article. Review.
2,016 results