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Year Number of Results
2005 1
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62 results

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Page 1
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D; Deciphering Developmental Disorders Study; Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM. Reijnders MRF, et al. Among authors: swagemakers sma. Am J Hum Genet. 2018 Jun 7;102(6):1195-1203. doi: 10.1016/j.ajhg.2018.04.014. Epub 2018 May 31. Am J Hum Genet. 2018. PMID: 29861108 Free PMC article.
Plasticity mechanisms of genetically distinct Purkinje cells.
Voerman S, Broersen R, Swagemakers SMA, De Zeeuw CI, van der Spek PJ. Voerman S, et al. Among authors: swagemakers sma. Bioessays. 2024 Jun;46(6):e2400008. doi: 10.1002/bies.202400008. Epub 2024 May 2. Bioessays. 2024. PMID: 38697917 Review.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Among authors: swagemakers sma. Genet Med. 2023 Nov;25(11):100962. doi: 10.1016/j.gim.2023.100962. Epub 2023 Sep 1. Genet Med. 2023. PMID: 37658852 Free article. No abstract available.
A serum B-lymphocyte activation signature is a key distinguishing feature of the immune response in sarcoidosis compared to tuberculosis.
Putera I, Schrijver B, Kolijn PM, van Stigt AC, Ten Berge JCEM, IJspeert H, Nagtzaam NMA, Swagemakers SMA, van Laar JAM, Agrawal R, Rombach SM, van Hagen PM, La Distia Nora R, Dik WA. Putera I, et al. Among authors: swagemakers sma. Commun Biol. 2024 Sep 10;7(1):1114. doi: 10.1038/s42003-024-06822-1. Commun Biol. 2024. PMID: 39256610 Free PMC article.
A germline STAT6 gain-of-function variant is associated with early-onset allergies.
Suratannon N, Ittiwut C, Dik WA, Ittiwut R, Meesilpavikkai K, Israsena N, Ingrungruanglert P, Dalm VASH, van Daele PLA, Sanpavat A, Chaijitraruch N, Schrijver B, Buranapraditkun S, Porntaveetus T, Swagemakers SMA, IJspeert H, Palaga T, Suphapeetiporn K, van der Spek PJ, Hirankarn N, Chatchatee P, Martin van Hagen P, Shotelersuk V. Suratannon N, et al. Among authors: swagemakers sma. J Allergy Clin Immunol. 2023 Feb;151(2):565-571.e9. doi: 10.1016/j.jaci.2022.09.028. Epub 2022 Oct 7. J Allergy Clin Immunol. 2023. PMID: 36216080
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
Theil AF, Botta E, Raams A, Smith DEC, Mendes MI, Caligiuri G, Giachetti S, Bione S, Carriero R, Liberi G, Zardoni L, Swagemakers SMA, Salomons GS, Sarasin A, Lehmann A, van der Spek PJ, Ogi T, Hoeijmakers JHJ, Vermeulen W, Orioli D. Theil AF, et al. Among authors: swagemakers sma. Am J Hum Genet. 2019 Aug 1;105(2):434-440. doi: 10.1016/j.ajhg.2019.06.017. Am J Hum Genet. 2019. PMID: 31374204 Free PMC article.
Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders.
Cunningham JL, Frankovich J, Dubin RA, Pedrosa E, Baykara RN, Schlenk NC, Maqbool SB, Dolstra H, Marino J, Edinger J, Shea JM, Laje G, Swagemakers SMA, Sinnadurai S, Zhang ZD, Lin JR, van der Spek PJ, Lachman HM. Cunningham JL, et al. Among authors: swagemakers sma. Dev Neurosci. 2024 Oct 11:1-20. doi: 10.1159/000541908. Online ahead of print. Dev Neurosci. 2024. PMID: 39396515 Free article.
62 results