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Page 1
Donor perspectives on informed consent and use of biospecimens for brain organoid research.
MacDuffie KE, Stein JL, Doherty D, Jayadev S, Girault JB, Emmons KA, Glass MR, Dempsey JC, Marrus N, Botteron KN, Dager SR, Estes AM, Piven J, Wilfond BS. MacDuffie KE, et al. Among authors: dempsey jc. Stem Cell Reports. 2023 Jul 11;18(7):1389-1393. doi: 10.1016/j.stemcr.2023.05.019. Epub 2023 Jun 22. Stem Cell Reports. 2023. PMID: 37352851 Free PMC article.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Serpieri V, Mortarini G, Loucks H, Biagini T, Micalizzi A, Palmieri I, Dempsey JC, D'Abrusco F, Mazzotta C, Battini R, Bertini ES, Boltshauser E, Borgatti R, Brockmann K, D'Arrigo S, Nardocci N, Fischetto R, Agolini E, Novelli A, Romano A, Romaniello R, Stanzial F, Signorini S, Strisciuglio P, Gana S, Mazza T, Doherty D, Valente EM. Serpieri V, et al. Among authors: dempsey jc. J Med Genet. 2023 Sep;60(9):885-893. doi: 10.1136/jmg-2022-108725. Epub 2023 Feb 14. J Med Genet. 2023. PMID: 36788019 Free PMC article.
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: dempsey jc. Genet Med. 2023 Feb;25(2):100004. doi: 10.1016/j.gim.2022.100004. Genet Med. 2023. PMID: 36745127 Free PMC article. 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: dempsey jc. 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.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group. Serpieri V, et al. Among authors: dempsey jc. J Med Genet. 2022 Sep;59(9):888-894. doi: 10.1136/jmedgenet-2021-108114. Epub 2021 Oct 21. J Med Genet. 2022. PMID: 34675124 Free PMC article.
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
van der Sluijs PJ, Alders M, Dingemans AJM, Parbhoo K, van Bon BW, Dempsey JC, Doherty D, den Dunnen JT, Gerkes EH, Milller IM, Moortgat S, Regier DS, Ruivenkamp CAL, Schmalz B, Smol T, Stuurman KE, Vincent-Delorme C, de Vries BBA, Sadikovic B, Hickey SE, Rosenfeld JA, Maystadt I, Santen GWE. van der Sluijs PJ, et al. Among authors: dempsey jc. Genes (Basel). 2021 Aug 20;12(8):1275. doi: 10.3390/genes12081275. Genes (Basel). 2021. PMID: 34440449 Free PMC article.
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.
Van De Weghe JC, Giordano JL, Mathijssen IB, Mojarrad M, Lugtenberg D, Miller CV, Dempsey JC, Mohajeri MSA, van Leeuwen E, Pajkrt E, Klaver CCW, Houlden H, Eslahi A, Waters AM; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Aggarwal VS, de Vries BBA, Maroofian R, Doherty D. Van De Weghe JC, et al. Among authors: dempsey jc. HGG Adv. 2021 Jan 14;2(1):100016. doi: 10.1016/j.xhgg.2020.100016. Epub 2020 Nov 21. HGG Adv. 2021. PMID: 33791682 Free PMC article.
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.
Latour BL, Van De Weghe JC, Rusterholz TD, Letteboer SJ, Gomez A, Shaheen R, Gesemann M, Karamzade A, Asadollahi M, Barroso-Gil M, Chitre M, Grout ME, van Reeuwijk J, van Beersum SE, Miller CV, Dempsey JC, Morsy H; University of Washington Center for Mendelian Genomics; Bamshad MJ; Genomics England Research Consortium; Nickerson DA, Neuhauss SC, Boldt K, Ueffing M, Keramatipour M, Sayer JA, Alkuraya FS, Bachmann-Gagescu R, Roepman R, Doherty D. Latour BL, et al. Among authors: dempsey jc. J Clin Invest. 2020 Aug 3;130(8):4423-4439. doi: 10.1172/JCI131656. J Clin Invest. 2020. PMID: 32453716 Free PMC article.
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