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

Year Number of Results
1973 2
1979 1
1982 1
1983 5
1984 4
1985 2
1986 2
1987 7
1988 4
1989 5
1990 10
1991 2
1992 9
1993 7
1994 8
1995 7
1996 8
1997 6
1998 10
1999 5
2000 11
2001 11
2002 9
2003 5
2004 7
2005 6
2006 5
2007 12
2008 10
2009 11
2010 11
2011 10
2012 7
2013 15
2014 14
2015 11
2016 11
2017 16
2018 13
2019 14
2020 21
2021 22
2022 14
2023 16
2024 12

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371 results

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Page 1
A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome.
Werren EA, Kalsner L, Ewald J, Peracchio M, King C, Vats P, Audano PA, Robinson PN, Adams MD, Kelly MA, Matson AP. Werren EA, et al. Among authors: kelly ma. bioRxiv [Preprint]. 2024 Apr 22:2024.04.18.590108. doi: 10.1101/2024.04.18.590108. bioRxiv. 2024. PMID: 38712026 Free PMC article. Preprint.
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Herbst C, Bothe V, Wegler M, Axer-Schaefer S, Audebert-Bellanger S, Gecz J, Cogne B, Feldman HB, Horn AHC, Hurst ACE, Kelly MA, Kruer MC, Kurolap A, Laquerriere A, Li M, Mark PR, Morawski M, Nizon M, Pastinen T, Polster T, Saugier-Veber P, SeSong J, Sticht H, Stieler JT, Thifffault I, van Eyk CL, Marcorelles P, Vezain-Mouchard M, Abou Jamra R, Oppermann H. Herbst C, et al. Among authors: kelly ma. Hum Genet. 2024 Mar;143(3):455-469. doi: 10.1007/s00439-024-02655-4. Epub 2024 Mar 25. Hum Genet. 2024. PMID: 38526744 Free PMC article.
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. Among authors: kelly ma. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 Free PMC article.
371 results