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

Year Number of Results
1968 1
1969 2
1970 3
1971 5
1972 2
1975 1
1976 2
1977 1
1978 2
1981 1
1983 1
1984 1
1989 1
1990 2
1991 2
1992 1
1993 4
1994 8
1995 5
1996 8
1997 9
1998 10
1999 7
2000 5
2001 10
2002 4
2003 6
2004 6
2005 4
2006 7
2007 5
2008 9
2009 4
2010 9
2011 9
2012 7
2013 13
2014 13
2015 14
2016 15
2017 5
2018 13
2019 15
2020 12
2021 32
2022 25
2023 17
2024 18

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319 results

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Page 1
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer KM, Seitz B, Robin NH, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson CF, Tran Mau-Them F, Vitobello A, Bruel AL, Sorlin A, Mehta S, Raymond FL, Gilmore K, Powell BC, Weck K, Li C, Vulto-van Silfhout AT, Giacomini T, Mancardi MM, Accogli A, Salpietro V, Zara F, Vora NL, Davis EE, Burdine R, Bhoj E. Patterson V, et al. Among authors: robin nh. Sci Adv. 2023 Apr 28;9(17):eade0631. doi: 10.1126/sciadv.ade0631. Epub 2023 Apr 26. Sci Adv. 2023. PMID: 37126546 Free PMC article.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O'Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B. Schalk A, et al. Among authors: robin nh. J Med Genet. 2022 Oct;59(10):965-975. doi: 10.1136/jmedgenet-2021-107751. Epub 2021 Dec 15. J Med Genet. 2022. PMID: 34930816 Free PMC article.
Editorial: Prenatal genetic testing.
Jenkins M, Seasely AR, Subramaniam A, Robin NH. Jenkins M, et al. Among authors: robin nh. Curr Opin Pediatr. 2022 Dec 1;34(6):531-532. doi: 10.1097/MOP.0000000000001175. Curr Opin Pediatr. 2022. PMID: 36321220 No abstract available.
Direct-to-consumer genetic testing.
Henegan JC Jr, Robin NH. Henegan JC Jr, et al. Among authors: robin nh. Curr Opin Pediatr. 2010 Dec;22(6):685-6. doi: 10.1097/MOP.0b013e3283402e50. Curr Opin Pediatr. 2010. PMID: 21610329 No abstract available.
319 results