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

Year Number of Results
2003 1
2004 4
2005 3
2006 3
2007 1
2008 3
2009 2
2010 1
2011 3
2012 1
2015 2
2018 1
2019 5
2020 4
2021 10
2022 13
2023 16
2024 6

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69 results

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Page 1
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Vitobello A, Mazel B, Lelianova VG, Zangrandi A, Petitto E, Suckling J, Salpietro V, Meyer R, Elbracht M, Kurth I, Eggermann T, Benlaouer O, Lall G, Tonevitsky AG, Scott DA, Chan KM, Rosenfeld JA, Nambot S, Safraou H, Bruel AL, Denommé-Pichon AS, Tran Mau-Them F, Philippe C, Duffourd Y, Guo H, Petersen AK, Granger L, Crunk A, Bayat A, Striano P, Zara F, Scala M, Thomas Q, Delahaye A, de Sainte Agathe JM, Buratti J, Kozlov SV, Faivre L, Thauvin-Robinet C, Ushkaryov Y. Vitobello A, et al. Among authors: thomas q. Am J Hum Genet. 2022 Aug 4;109(8):1436-1457. doi: 10.1016/j.ajhg.2022.06.011. Epub 2022 Jul 30. Am J Hum Genet. 2022. PMID: 35907405 Free PMC article.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: thomas q. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
A G(enomic)P(ositioning)S(ystem) for Plant RNAPII Transcription.
Leng X, Thomas Q, Rasmussen SH, Marquardt S. Leng X, et al. Among authors: thomas q. Trends Plant Sci. 2020 Aug;25(8):744-764. doi: 10.1016/j.tplants.2020.03.005. Epub 2020 Apr 11. Trends Plant Sci. 2020. PMID: 32673579 Review.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Denommé-Pichon AS, Collins SC, Bruel AL, Mikhaleva A, Wagner C, Vancollie VE, Thomas Q, Chevarin M, Weber M, Prada CE, Overs A, Palomares-Bralo M, Santos-Simarro F, Pacio-Míguez M, Busa T, Legius E, Bacino CA, Rosenfeld JA, Le Guyader G, Egloff M, Le Guillou X, Mencarelli MA, Renieri A, Grosso S, Levy J, Dozières B, Desguerre I, Vitobello A, Duffourd Y, Lelliott CJ, Thauvin-Robinet C, Philippe C, Faivre L, Yalcin B. Denommé-Pichon AS, et al. Among authors: thomas q. Genet Med. 2023 Jul;25(7):100835. doi: 10.1016/j.gim.2023.100835. Epub 2023 Mar 28. Genet Med. 2023. PMID: 36999555 Free article. Review.
Histone chaperone ASF1 mediates H3.3-H4 deposition in Arabidopsis.
Zhong Z, Wang Y, Wang M, Yang F, Thomas QA, Xue Y, Zhang Y, Liu W, Jami-Alahmadi Y, Xu L, Feng S, Marquardt S, Wohlschlegel JA, Ausin I, Jacobsen SE. Zhong Z, et al. Among authors: thomas qa. Nat Commun. 2022 Nov 15;13(1):6970. doi: 10.1038/s41467-022-34648-0. Nat Commun. 2022. PMID: 36379930 Free PMC article.
MDC1 maintains active elongation complexes of RNA polymerase II.
Pappas G, Munk SHN, Watanabe K, Thomas Q, Gál Z, Gram HH, Lee M, Gómez-Cabello D, Kanellis DC, Olivares-Chauvet P, Larsen DH, Gregersen LH, Maya-Mendoza A, Galanos P, Bartek J. Pappas G, et al. Among authors: thomas q. Cell Rep. 2023 Jan 31;42(1):111979. doi: 10.1016/j.celrep.2022.111979. Epub 2023 Jan 12. Cell Rep. 2023. PMID: 36640322 Free article.
Circulating tumour cells and PD-L1-positive small extracellular vesicles: the liquid biopsy combination for prognostic information in patients with metastatic non-small cell lung cancer.
Eslami-S Z, Cortés-Hernández LE, Sinoquet L, Gauthier L, Vautrot V, Cayrefourcq L, Avoscan L, Jacot W, Pouderoux S, Viala M, Thomas QD, Lamy PJ, Quantin X, Gobbo J, Alix-Panabières C. Eslami-S Z, et al. Among authors: thomas qd. Br J Cancer. 2024 Jan;130(1):63-72. doi: 10.1038/s41416-023-02491-9. Epub 2023 Nov 16. Br J Cancer. 2024. PMID: 37973956 Free PMC article.
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Delanne J, Lecat M, Blackburn PR, Klee EW, Stumpel CTRM, Stegmann S, Stevens SJC, Nava C, Heron D, Keren B, Mahida S, Naidu S, Babovic-Vuksanovic D, Herkert JC, Torring PM, Kibæk M, De Bie I, Pfundt R, Hendriks YMC, Ousager LB, Bend R, Warren H, Skinner SA, Lyons MJ, Pöe C, Chevarin M, Jouan T, Garde A, Thomas Q, Kuentz P, Tisserant E, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C. Delanne J, et al. Among authors: thomas q. Eur J Med Genet. 2023 Jan;66(1):104670. doi: 10.1016/j.ejmg.2022.104670. Epub 2022 Nov 19. Eur J Med Genet. 2023. PMID: 36414205 Review.
69 results