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Year Number of Results
1993 1
2002 1
2004 1
2005 1
2007 2
2008 2
2009 5
2011 3
2012 9
2013 5
2014 3
2015 10
2016 8
2017 10
2018 6
2019 4
2020 10
2021 9
2022 7
2023 8
2024 1

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93 results

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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.
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
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.
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.
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
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.
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.
93 results