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

Year Number of Results
1884 1
1934 1
1938 1
1945 2
1946 1
1947 1
1949 2
1950 2
1951 1
1952 5
1953 2
1955 1
1956 1
1957 3
1958 3
1959 2
1960 1
1962 1
1963 3
1964 1
1965 1
1967 1
1969 2
1970 1
1972 1
1975 2
1976 1
1977 1
1978 5
1979 5
1980 5
1981 4
1982 8
1983 6
1984 14
1985 7
1986 8
1987 11
1988 9
1989 7
1990 4
1991 1
1992 4
1993 6
1994 3
1995 4
1996 3
1997 4
1998 5
1999 11
2000 7
2001 12
2002 11
2003 11
2004 11
2005 8
2006 5
2007 6
2008 12
2009 6
2010 5
2011 5
2012 13
2013 10
2014 7
2015 6
2016 11
2017 16
2018 21
2019 24
2020 24
2021 29
2022 18
2023 33
2024 15

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473 results

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Page 1
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.
Houdayer C, Phillips AM, Chabbert M, Bourreau J, Maroofian R, Houlden H, Richards K, Saadi NW, Dad'ová E, Van Bogaert P, Rupin M, Keren B, Charles P, Smol T, Riquet A, Pais L, O'Donnell-Luria A, VanNoy GE, Bayat A, Møller RS, Olofsson K, Abou Jamra R, Syrbe S, Dasouki M, Seaver LH, Sullivan JA, Shashi V, Alkuraya FS, Poss AF, Spence JE, Schnur RE, Forster IC, Mckenzie CE, Simons C, Wang M, Snell P, Kothur K, Buckley M, Roscioli T, Elserafy N, Dauriat B, Procaccio V, Henrion D, Lenaers G, Colin E, Verbeek NE, Van Gassen KL, Legendre C, Bonneau D, Reid CA, Howell KB, Ziegler A, Legros C. Houdayer C, et al. Among authors: sullivan ja. medRxiv [Preprint]. 2024 Mar 22:2024.03.19.24303984. doi: 10.1101/2024.03.19.24303984. medRxiv. 2024. PMID: 38562733 Free PMC article. Preprint.
Comparison of RT-PCR and antigen test sensitivity across nasopharyngeal, nares, and oropharyngeal swab, and saliva sample types during the SARS-CoV-2 omicron variant.
Damhorst GL, Lin J, Frediani JK, Sullivan JA, Westbrook A, McLendon K, Baugh TJ, O'Sick WH, Roback JD, Piantadosi AL, Waggoner JJ, Bassit L, Rao A, Greenleaf M, O'Neal JW, Swanson S, Pollock NR, Martin GS, Lam WA, Levy JM. Damhorst GL, et al. Among authors: sullivan ja. Heliyon. 2024 Feb 29;10(6):e27188. doi: 10.1016/j.heliyon.2024.e27188. eCollection 2024 Mar 30. Heliyon. 2024. PMID: 38500996 Free PMC article.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
473 results