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DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.
Volk T, Pannicke U, Reisli I, Bulashevska A, Ritter J, Björkman A, Schäffer AA, Fliegauf M, Sayar EH, Salzer U, Fisch P, Pfeifer D, Di Virgilio M, Cao H, Yang F, Zimmermann K, Keles S, Caliskaner Z, Güner SÜ, Schindler D, Hammarström L, Rizzi M, Hummel M, Pan-Hammarström Q, Schwarz K, Grimbacher B. Volk T, et al. Among authors: cao h. Hum Mol Genet. 2015 Dec 20;24(25):7361-72. doi: 10.1093/hmg/ddv437. Epub 2015 Oct 16. Hum Mol Genet. 2015. PMID: 26476407 Free PMC article.
Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency.
Schepp J, Bulashevska A, Mannhardt-Laakmann W, Cao H, Yang F, Seidl M, Kelly S, Hershfield M, Grimbacher B. Schepp J, et al. Among authors: cao h. J Clin Immunol. 2016 Apr;36(3):179-86. doi: 10.1007/s10875-016-0245-x. Epub 2016 Feb 27. J Clin Immunol. 2016. PMID: 26922074
Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).
Schubert D, Klein MC, Hassdenteufel S, Caballero-Oteyza A, Yang L, Proietti M, Bulashevska A, Kemming J, Kühn J, Winzer S, Rusch S, Fliegauf M, Schäffer AA, Pfeffer S, Geiger R, Cavalié A, Cao H, Yang F, Li Y, Rizzi M, Eibel H, Kobbe R, Marks AL, Peppers BP, Hostoffer RW, Puck JM, Zimmermann R, Grimbacher B. Schubert D, et al. Among authors: cao h. J Allergy Clin Immunol. 2018 Apr;141(4):1427-1438. doi: 10.1016/j.jaci.2017.06.042. Epub 2017 Aug 4. J Allergy Clin Immunol. 2018. PMID: 28782633 Free PMC article.
Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.
Fliegauf M, Bryant VL, Frede N, Slade C, Woon ST, Lehnert K, Winzer S, Bulashevska A, Scerri T, Leung E, Jordan A, Keller B, de Vries E, Cao H, Yang F, Schäffer AA, Warnatz K, Browett P, Douglass J, Ameratunga RV, van der Meer JW, Grimbacher B. Fliegauf M, et al. Among authors: cao h. Am J Hum Genet. 2015 Sep 3;97(3):389-403. doi: 10.1016/j.ajhg.2015.07.008. Epub 2015 Aug 13. Am J Hum Genet. 2015. PMID: 26279205 Free PMC article.
Novel genetic loci associated HLA-B*08:01 positive myasthenia gravis.
Varade J, Wang N, Lim CK, Zhang T, Zhang Y, Liu X, Piehl F, Matell R, Cao H, Xu X, Hammarström L. Varade J, et al. Among authors: cao h. J Autoimmun. 2018 Mar;88:43-49. doi: 10.1016/j.jaut.2017.10.002. Epub 2017 Oct 14. J Autoimmun. 2018. PMID: 29037440
Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants.
Li Y, Vinckenbosch N, Tian G, Huerta-Sanchez E, Jiang T, Jiang H, Albrechtsen A, Andersen G, Cao H, Korneliussen T, Grarup N, Guo Y, Hellman I, Jin X, Li Q, Liu J, Liu X, Sparsø T, Tang M, Wu H, Wu R, Yu C, Zheng H, Astrup A, Bolund L, Holmkvist J, Jørgensen T, Kristiansen K, Schmitz O, Schwartz TW, Zhang X, Li R, Yang H, Wang J, Hansen T, Pedersen O, Nielsen R, Wang J. Li Y, et al. Among authors: cao h. Nat Genet. 2010 Nov;42(11):969-72. doi: 10.1038/ng.680. Epub 2010 Oct 3. Nat Genet. 2010. PMID: 20890277
An integrated tool to study MHC region: accurate SNV detection and HLA genes typing in human MHC region using targeted high-throughput sequencing.
Cao H, Wu J, Wang Y, Jiang H, Zhang T, Liu X, Xu Y, Liang D, Gao P, Sun Y, Gifford B, D'Ascenzo M, Liu X, Tellier LC, Yang F, Tong X, Chen D, Zheng J, Li W, Richmond T, Xu X, Wang J, Li Y. Cao H, et al. PLoS One. 2013 Jul 24;8(7):e69388. doi: 10.1371/journal.pone.0069388. Print 2013. PLoS One. 2013. PMID: 23894464 Free PMC article.
IMonitor: A Robust Pipeline for TCR and BCR Repertoire Analysis.
Zhang W, Du Y, Su Z, Wang C, Zeng X, Zhang R, Hong X, Nie C, Wu J, Cao H, Xu X, Liu X. Zhang W, et al. Among authors: cao h. Genetics. 2015 Oct;201(2):459-72. doi: 10.1534/genetics.115.176735. Epub 2015 Aug 21. Genetics. 2015. PMID: 26297338 Free PMC article.
A short-read multiplex sequencing method for reliable, cost-effective and high-throughput genotyping in large-scale studies.
Cao H, Wang Y, Zhang W, Chai X, Zhang X, Chen S, Yang F, Zhang C, Guo Y, Liu Y, Tang Z, Chen C, Xue Y, Zhen H, Xu Y, Rao B, Liu T, Zhao M, Zhang W, Li Y, Zhang X, Tellier LC, Krogh A, Kristiansen K, Wang J, Li J. Cao H, et al. Hum Mutat. 2013 Dec;34(12):1715-20. doi: 10.1002/humu.22439. Epub 2013 Oct 7. Hum Mutat. 2013. PMID: 24014314
The DNA methylome of human peripheral blood mononuclear cells.
Li Y, Zhu J, Tian G, Li N, Li Q, Ye M, Zheng H, Yu J, Wu H, Sun J, Zhang H, Chen Q, Luo R, Chen M, He Y, Jin X, Zhang Q, Yu C, Zhou G, Sun J, Huang Y, Zheng H, Cao H, Zhou X, Guo S, Hu X, Li X, Kristiansen K, Bolund L, Xu J, Wang W, Yang H, Wang J, Li R, Beck S, Wang J, Zhang X. Li Y, et al. Among authors: cao h. PLoS Biol. 2010 Nov 9;8(11):e1000533. doi: 10.1371/journal.pbio.1000533. PLoS Biol. 2010. PMID: 21085693 Free PMC article.
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