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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
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.
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: hampstead je.
Genet Med. 2022 Oct;24(10):2051-2064. doi: 10.1016/j.gim.2022.06.007. Epub 2022 Jul 14.
Genet Med. 2022.
PMID: 35833929
Free article.
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De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders.
Wiel L, Hampstead JE, Venselaar H, Vissers LELM, Brunner HG, Pfundt R, Vriend G, Veltman JA, Gilissen C.
Wiel L, et al. Among authors: hampstead je.
Am J Hum Genet. 2023 Jan 5;110(1):92-104. doi: 10.1016/j.ajhg.2022.12.001. Epub 2022 Dec 22.
Am J Hum Genet. 2023.
PMID: 36563679
Free PMC article.
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
Yaldiz B, Kucuk E, Hampstead J, Hofste T, Pfundt R, Corominas Galbany J, Rinne T, Yntema HG, Hoischen A, Nelen M, Gilissen C; Solve-RD consortium.
Yaldiz B, et al.
Hum Genomics. 2023 May 3;17(1):39. doi: 10.1186/s40246-023-00485-5.
Hum Genomics. 2023.
PMID: 37138343
Free PMC article.
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Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.
Steyaert W, Haer-Wigman L, Pfundt R, Hellebrekers D, Steehouwer M, Hampstead J, de Boer E, Stegmann A, Yntema H, Kamsteeg EJ, Brunner H, Hoischen A, Gilissen C.
Steyaert W, et al.
Nat Commun. 2023 Oct 27;14(1):6845. doi: 10.1038/s41467-023-42531-9.
Nat Commun. 2023.
PMID: 37891200
Free PMC article.
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Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity.
Goldmann JM, Hampstead JE, Wong WSW, Wilfert AB, Turner TN, Jonker MA, Bernier R, Huynen MA, Eichler EE, Veltman JA, Maxwell GL, Gilissen C.
Goldmann JM, et al. Among authors: hampstead je.
Genome Res. 2021 Sep;31(9):1513-1518. doi: 10.1101/gr.271809.120. Epub 2021 Jul 23.
Genome Res. 2021.
PMID: 34301630
Free PMC article.
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Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders.
Hoegen B, Hampstead JE, Engelke UFH, Kulkarni P, Wevers RA, Brunner HG, Coene KLM, Gilissen C.
Hoegen B, et al. Among authors: hampstead je.
J Inherit Metab Dis. 2022 Jul;45(4):682-695. doi: 10.1002/jimd.12522. Epub 2022 May 22.
J Inherit Metab Dis. 2022.
PMID: 35546254
Free PMC article.
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Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study.
Wright CF, et al.
N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12.
N Engl J Med. 2023.
PMID: 37043637
Free PMC article.
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