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

Year Number of Results
1892 1
1976 1
1977 1
1979 1
1982 1
1983 1
1986 1
1989 1
1990 2
1991 2
1992 3
1993 4
1994 4
1995 1
1997 1
1998 4
1999 6
2000 2
2001 1
2003 2
2004 3
2005 2
2006 5
2007 6
2008 4
2009 3
2011 2
2012 5
2013 5
2015 1
2016 5
2017 4
2018 7
2019 5
2020 5
2021 5
2022 7
2023 6
2024 4
2025 6

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114 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: powell bc. 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.
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Lowther C, Valkanas E, Giordano JL, Wang HZ, Currall BB, O'Keefe K, Pierce-Hoffman E, Kurtas NE, Whelan CW, Hao SP, Weisburd B, Jalili V, Fu J, Wong I, Collins RL, Zhao X, Austin-Tse CA, Evangelista E, Lemire G, Aggarwal VS, Lucente D, Gauthier LD, Tolonen C, Sahakian N, Stevens C, An JY, Dong S, Norton ME, MacKenzie TC, Devlin B, Gilmore K, Powell BC, Brandt A, Vetrini F, DiVito M, Sanders SJ, MacArthur DG, Hodge JC, O'Donnell-Luria A, Rehm HL, Vora NL, Levy B, Brand H, Wapner RJ, Talkowski ME. Lowther C, et al. Among authors: powell bc. Am J Hum Genet. 2023 Sep 7;110(9):1454-1469. doi: 10.1016/j.ajhg.2023.07.010. Epub 2023 Aug 17. Am J Hum Genet. 2023. PMID: 37595579 Free PMC article.
Establishing the Medical Actionability of Genomic Variants.
Goddard KAB, Lee K, Buchanan AH, Powell BC, Hunter JE. Goddard KAB, et al. Among authors: powell bc. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:173-192. doi: 10.1146/annurev-genom-111021-032401. Epub 2022 Apr 1. Annu Rev Genomics Hum Genet. 2022. PMID: 35363504 Free PMC article. Review.
A millennial myosin census.
Berg JS, Powell BC, Cheney RE. Berg JS, et al. Among authors: powell bc. Mol Biol Cell. 2001 Apr;12(4):780-94. doi: 10.1091/mbc.12.4.780. Mol Biol Cell. 2001. PMID: 11294886 Free PMC article. Review.
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation.
Cope HL, Milko LV, Jalazo ER, Crissman BG, Foreman AKM, Powell BC, deJong NA, Hunter JE, Boyea BL, Forsythe AN, Wheeler AC, Zimmerman RS, Suchy SF, Begtrup A, Langley KG, Monaghan KG, Kraczkowski C, Hruska KS, Kruszka P, Kucera KS, Berg JS, Powell CM, Peay HL. Cope HL, et al. Among authors: powell bc. Genet Med. 2024 Dec;26(12):101290. doi: 10.1016/j.gim.2024.101290. Epub 2024 Oct 5. Genet Med. 2024. PMID: 39375994
Mondo: Integrating Disease Terminology Across Communities.
Vasilevsky NA, Toro S, Matentzoglu N, Flack JE, Mullen KR, Hegde H, Gehrke S, Whetzel PL, Shwetar Y, Harris NL, Ngu MS, Alyea GL, Kane MS, Roncaglia P, Sid E, Thaxton CL, Wood V, Abraham RS, Achatz MI, Ajuyah P, Amberger JS, Babb L, Baker J, Balhoff JP, Berg JS, Bhalla A, Bofill-De Ros X, Braun IR, Broeren EC, Byer BK, Byrne AB, Callahan TJ, Carmody LC, Chan LE, Clause AR, Cohen JS, DeLuca M, Deuitch NT, Flowers M, Fraser J, Fujiwara T, Gitau V, Goldstein JL, Gration D, Groza T, Gyori BM, Hankey W, Hilton JA, Himmelstein DS, Hong SS, Hoyt CT, Huether R, Hurwitz E, Jacobsen JOB, Kikuchi A, Köhler S, Korn DR, Lagorce D, Laraway BJ, Li JY, Malheiro AJ, McLaughlin J, Meldal BHM, Mohan S, Moxon SAT, Munoz-Torres MC, Nelson TH, Nicholas FW, Ochoa D, Olson D, Oprea TI, Oskotsky TT, Osumi-Sutherland D, Paris K, Parkinson HE, Pendlington ZM, Peng XP, Pizzino A, Plon SE, Powell BC, Ratliff JC, Rehm HL, Remennik L, Riggs ER, Roberts S, Robinson PN, Ross JE, Schaper K, Schilder BM, Schmidt JL, Sharp EW, Similuk MN, Smedley D, Sneddon TP, Sparks R, Stefancsik R, Stupp GS, Sundar S, Takatsuki T, Tammen I, Tshering KC, Unni DR, Valasek E, Vanderver A, Wagner AH, Webb RF, Welter D, Yaya-St… See abstract for full author list ➔ Vasilevsky NA, et al. Among authors: powell bc. Genetics. 2025 Oct 6:iyaf215. doi: 10.1093/genetics/iyaf215. Online ahead of print. Genetics. 2025. PMID: 41052288
Organization and expression of hair follicle genes.
Rogers GE, Powell BC. Rogers GE, et al. Among authors: powell bc. J Invest Dermatol. 1993 Jul;101(1 Suppl):50S-55S. doi: 10.1111/1523-1747.ep12362626. J Invest Dermatol. 1993. PMID: 7686951 Free article. Review.
114 results