Hampstead J - Search Results

1

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. Among authors: hampstead j. Nat Commun. 2023 Oct 27;14(1):6845. doi: 10.1038/s41467-023-42531-9. Nat Commun. 2023. PMID: 37891200 Free PMC article.

2

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.

3

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.

4

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.

5

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.

6

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. Among authors: hampstead j. Hum Genomics. 2023 May 3;17(1):39. doi: 10.1186/s40246-023-00485-5. Hum Genomics. 2023. PMID: 37138343 Free PMC article.

7

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. 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.

8

Genomic instability in non-breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2.

Elze L, van der Post RS, Vos JR, Mensenkamp AR, Pamidimarri Naga S, Hampstead JE, Vermeulen E, Oorsprong M, Hofste T, Simons M, Nagtegaal ID, Hoogerbrugge N, de Voer RM, Ligtenberg MJL. Elze L, et al. Among authors: hampstead je. J Natl Cancer Inst. 2024 Dec 1;116(12):1904-1913. doi: 10.1093/jnci/djae160. J Natl Cancer Inst. 2024. PMID: 38960732 Free PMC article.

9

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. Among authors: hampstead j. 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.

10

Section 136 and African/Afro-Caribbean minorities.

Pipe R, Bhat A, Matthews B, Hampstead J. Pipe R, et al. Among authors: hampstead j. Int J Soc Psychiatry. 1991 Spring;37(1):14-23. doi: 10.1177/002076409103700103. Int J Soc Psychiatry. 1991. PMID: 2045237

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