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

Year Number of Results
1949 1
1951 3
1953 1
1955 1
1956 3
1957 3
1958 2
1959 2
1960 2
1961 2
1962 6
1964 1
1966 1
1969 4
1970 1
1971 1
1972 1
1973 1
1974 2
1975 2
1976 1
1977 4
1978 1
1980 2
1982 5
1983 2
1984 1
1985 1
1986 1
1987 2
1988 5
1989 3
1990 7
1991 5
1992 10
1993 6
1994 9
1995 5
1996 7
1997 4
1998 6
1999 6
2000 5
2001 10
2002 20
2003 27
2004 34
2005 22
2006 37
2007 26
2008 26
2009 41
2010 35
2011 36
2012 40
2013 33
2014 31
2015 40
2016 39
2017 37
2018 43
2019 37
2020 56
2021 85
2022 61
2023 60
2024 50
2025 46

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1,000 results

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Page 1
Single-cell census of human tooth development enables generation of human enamel.
Alghadeer A, Hanson-Drury S, Patni AP, Ehnes DD, Zhao YT, Li Z, Phal A, Vincent T, Lim YC, O'Day D, Spurrell CH, Gogate AA, Zhang H, Devi A, Wang Y, Starita L, Doherty D, Glass IA, Shendure J, Freedman BS, Baker D, Regier MC, Mathieu J, Ruohola-Baker H. Alghadeer A, et al. Among authors: doherty d. Dev Cell. 2023 Oct 23;58(20):2163-2180.e9. doi: 10.1016/j.devcel.2023.07.013. Epub 2023 Aug 14. Dev Cell. 2023. PMID: 37582367 Free PMC article.
A human cell atlas of fetal chromatin accessibility.
Domcke S, Hill AJ, Daza RM, Cao J, O'Day DR, Pliner HA, Aldinger KA, Pokholok D, Zhang F, Milbank JH, Zager MA, Glass IA, Steemers FJ, Doherty D, Trapnell C, Cusanovich DA, Shendure J. Domcke S, et al. Among authors: doherty d. Science. 2020 Nov 13;370(6518):eaba7612. doi: 10.1126/science.aba7612. Science. 2020. PMID: 33184180 Free PMC article.
Targeted long-read sequencing identifies missing disease-causing variation.
Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Allikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS; University of Washington Center for Mendelian Genomics; King MC, Cherry T, Chong JX, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE. Miller DE, et al. Among authors: doherty d. Am J Hum Genet. 2021 Aug 5;108(8):1436-1449. doi: 10.1016/j.ajhg.2021.06.006. Epub 2021 Jul 2. Am J Hum Genet. 2021. PMID: 34216551 Free PMC article.
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J. O'Roak BJ, et al. Among authors: doherty d. Science. 2012 Dec 21;338(6114):1619-22. doi: 10.1126/science.1227764. Epub 2012 Nov 15. Science. 2012. PMID: 23160955 Free PMC article.
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics; Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. Wheway G, et al. Among authors: doherty d. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13. Nat Cell Biol. 2015. PMID: 26167768 Free PMC article.
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.
Van De Weghe JC, Gomez A, Doherty D. Van De Weghe JC, et al. Among authors: doherty d. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:301-329. doi: 10.1146/annurev-genom-121321-093528. Epub 2022 Jun 2. Annu Rev Genomics Hum Genet. 2022. PMID: 35655331 Free PMC article. Review.
Registry randomised trials: a methodological perspective.
Doherty DA, Tong SYC, Reilly J, Shrapnel J, McDonald S, Ahern S, Harris I, Tam CS, Brennan AL, Hodgson C, Wilcox L, Balagurunathan A, Butcher BE, Reid CM. Doherty DA, et al. BMJ Open. 2023 Mar 1;13(3):e068057. doi: 10.1136/bmjopen-2022-068057. BMJ Open. 2023. PMID: 36858472 Free PMC article. Review.
Ethically permissible.
Doherty DJ. Doherty DJ. Arch Intern Med. 1987 Aug;147(8):1381-4. Arch Intern Med. 1987. PMID: 3632146 No abstract available.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Among authors: doherty d. Genet Med. 2022 Aug;24(8):1753-1760. doi: 10.1016/j.gim.2022.04.010. Epub 2022 May 18. Genet Med. 2022. PMID: 35579625 Free PMC article.
Species-specific FMRP regulation of RACK1 is critical for prenatal cortical development.
Shen M, Sirois CL, Guo Y, Li M, Dong Q, Méndez-Albelo NM, Gao Y, Khullar S, Kissel L, Sandoval SO, Wolkoff NE, Huang SX, Xu Z, Bryan JE, Contractor AM, Korabelnikov T, Glass IA, Doherty D; Birth Defects Research Laboratory; Levine JE, Sousa AMM, Chang Q, Bhattacharyya A, Wang D, Werling DM, Zhao X. Shen M, et al. Among authors: doherty d. Neuron. 2023 Dec 20;111(24):3988-4005.e11. doi: 10.1016/j.neuron.2023.09.014. Epub 2023 Oct 10. Neuron. 2023. PMID: 37820724 Free PMC article.
1,000 results