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Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease.
Xiao F, Zhang X, Morton SU, Kim SW, Fan Y, Gorham JM, Zhang H, Berkson PJ, Mazumdar N, Cao Y, Chen J, Hagen J, Liu X, Zhou P, Richter F, Shen Y, Ward T, Gelb BD, Seidman JG, Seidman CE, Pu WT. Xiao F, et al. Among authors: hagen j. Nat Genet. 2024 Mar;56(3):420-430. doi: 10.1038/s41588-024-01669-y. Epub 2024 Feb 20. Nat Genet. 2024. PMID: 38378865
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.
Ma M, Ganapathi M, Zheng Y, Tan KL, Kanca O, Bove KE, Quintanilla N, Sag SO, Temel SG, LeDuc CA, McPartland AJ, Pereira EM, Shen Y, Hagen J, Thomas CP, Nguyen Galván NT, Pan X, Lu S, Rosenfeld JA, Calame DG, Wangler MF, Lupski JR, Pehlivan D, Hertel PM, Chung WK, Bellen HJ. Ma M, et al. Among authors: hagen j. Genet Med. 2024 Mar 21;26(7):101125. doi: 10.1016/j.gim.2024.101125. Online ahead of print. Genet Med. 2024. PMID: 38522068
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Vos N, Haghshenas S, van der Laan L, Russel PKM, Rooney K, Levy MA, Relator R, Kerkhof J, McConkey H, Maas SM, Vissers LELM, de Vries BBA, Pfundt R, Elting MW, van Hagen JM, Verbeek NE, Jongmans MCJ, Lakeman P, Rumping L, Bosch DGM, Vitobello A, Thauvin-Robinet C, Faivre L, Nambot S, Garde A, Willems M, Genevieve D, Nicolas G, Busa T, Toutain A, Gérard M, Bizaoui V, Isidor B, Merla G, Accadia M, Schwartz CE, Ounap K, Hoffer MJV, Nezarati MM, van den Boogaard MH, Tedder ML, Rogers C, Brusco A, Ferrero GB, Spodenkiewicz M, Sidlow R, Mussa A, Trajkova S, McCann E, Mroczkowski HJ, Jansen S, Donker-Kaat L, Duijkers FAM, Stuurman KE, Mannens MMAM, Alders M, Henneman P, White SM, Sadikovic B, van Haelst MM. Vos N, et al. Among authors: van hagen jm. Hum Genet. 2024 May 24. doi: 10.1007/s00439-024-02679-w. Online ahead of print. Hum Genet. 2024. PMID: 38787418
Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1.
Dillen L, Fatima N, Hommersom MP, Çepni E, Fatima F, van Beusekom E, Albert S, van Hagen JM, de Vries BBA, Khan AA, de Brouwer APM, van Bokhoven H. Dillen L, et al. Among authors: van hagen jm. Stem Cell Res. 2024 May 9;77:103442. doi: 10.1016/j.scr.2024.103442. Online ahead of print. Stem Cell Res. 2024. PMID: 38739972 Free article.
Mitochondria inside acute myeloid leukemia cells hydrolyze ATP to resist chemotherapy.
Hagen JT, Montgomery MM, Aruleba RT, Chrest BR, Green TD, Kassai M, Zeczycki TN, Schmidt CA, Bhowmick D, Tan SF, Feith DJ, Chalfant CE, Loughran TP Jr, Liles D, Minden MD, Schimmer AD, Cabot MC, Mclung JM, Fisher-Wellman KH. Hagen JT, et al. bioRxiv [Preprint]. 2024 Apr 15:2024.04.12.589110. doi: 10.1101/2024.04.12.589110. bioRxiv. 2024. PMID: 38659944 Free PMC article. Preprint.
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.
van der Laan L, Lauffer P, Rooney K, Silva A, Haghshenas S, Relator R, Levy MA, Trajkova S, Huisman SA, Bijlsma EK, Kleefstra T, van Bon BW, Baysal Ö, Zweier C, Palomares-Bralo M, Fischer J, Szakszon K, Faivre L, Piton A, Mesman S, Hochstenbach R, Elting MW, van Hagen JM, Plomp AS, Mannens MMAM, Alders M, van Haelst MM, Ferrero GB, Brusco A, Henneman P, Sweetser DA, Sadikovic B, Vitobello A, Menke LA. van der Laan L, et al. Among authors: van hagen jm. HGG Adv. 2024 Apr 2;5(3):100289. doi: 10.1016/j.xhgg.2024.100289. Online ahead of print. HGG Adv. 2024. PMID: 38571311 Free PMC article.
782 results