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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 5
1994 9
1995 5
1996 7
1997 4
1998 6
1999 6
2000 5
2001 10
2002 20
2003 26
2004 34
2005 22
2006 37
2007 26
2008 23
2009 35
2010 32
2011 34
2012 38
2013 29
2014 27
2015 36
2016 35
2017 35
2018 41
2019 36
2020 49
2021 66
2022 43
Text availability
Article attribute
Article type
Publication date

Search Results

790 results
Results by year
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Page 1
Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Among authors: doherty d. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
A human cell atlas of fetal gene expression.
Cao J, O'Day DR, Pliner HA, Kingsley PD, Deng M, Daza RM, Zager MA, Aldinger KA, Blecher-Gonen R, Zhang F, Spielmann M, Palis J, Doherty D, Steemers FJ, Glass IA, Trapnell C, Shendure J. Cao J, et al. Among authors: doherty d. Science. 2020 Nov 13;370(6518):eaba7721. doi: 10.1126/science.aba7721. Science. 2020. PMID: 33184181 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.
New developments in von Willebrand disease.
Fogarty H, Doherty D, O'Donnell JS. Fogarty H, et al. Among authors: doherty d. Br J Haematol. 2020 Nov;191(3):329-339. doi: 10.1111/bjh.16681. Epub 2020 May 12. Br J Haematol. 2020. PMID: 32394456 Free PMC article. Review.
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.
Spatial and cell type transcriptional landscape of human cerebellar development.
Aldinger KA, Thomson Z, Phelps IG, Haldipur P, Deng M, Timms AE, Hirano M, Santpere G, Roco C, Rosenberg AB, Lorente-Galdos B, Gulden FO, O'Day D, Overman LM, Lisgo SN, Alexandre P, Sestan N, Doherty D, Dobyns WB, Seelig G, Glass IA, Millen KJ. Aldinger KA, et al. Among authors: doherty d. Nat Neurosci. 2021 Aug;24(8):1163-1175. doi: 10.1038/s41593-021-00872-y. Epub 2021 Jun 17. Nat Neurosci. 2021. PMID: 34140698 Free PMC article.
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Bachmann-Gagescu R, et al. Among authors: doherty d. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.
Redefining the Etiologic Landscape of Cerebellar Malformations.
Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB. Aldinger KA, et al. Among authors: doherty d. Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29. Am J Hum Genet. 2019. PMID: 31474318 Free PMC article.
Reply.
Wright JN, Shaw DWW, Ishak G, Perez FA, Doherty D. Wright JN, et al. Among authors: doherty d. AJNR Am J Neuroradiol. 2020 Aug;41(8):E61. doi: 10.3174/ajnr.A6673. Epub 2020 Jun 25. AJNR Am J Neuroradiol. 2020. PMID: 32586961 Free PMC article. No abstract available.
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.
790 results