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At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
JAMA Netw Open. 2023 Jul 3;6(7):e2326445. doi: 10.1001/jamanetworkopen.2023.26445.
JAMA Netw Open. 2023.
PMID: 37523181
Free PMC article.
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test.
Guo F, Liu R, Pan Y, Collins C, Bean L, Ma Z, Mathur A, Da Silva C, Nallamilli B, Guruju N, Chen-Deutsch X, Yousaf R, Chin E, Balciuniene J, Hegde M.
Guo F, et al. Among authors: chen deutsch x.
Genet Med. 2024 Jan;26(1):100995. doi: 10.1016/j.gim.2023.100995. Epub 2023 Oct 12.
Genet Med. 2024.
PMID: 37838930
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RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy.
Washington C, Stolerman ES, Cooley-Coleman JA, Jones JR, Chen-Deutsch X.
Washington C, et al. Among authors: chen deutsch x.
Clin Case Rep. 2023 Apr 7;11(4):e7165. doi: 10.1002/ccr3.7165. eCollection 2023 Apr.
Clin Case Rep. 2023.
PMID: 37038535
Free PMC article.
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Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent.
Duraisamy AJ, Liu R, Sureshkumar S, Rose R, Jagannathan L, da Silva C, Coovadia A, Ramachander V, Chandrasekar S, Raja I, Sajnani M, Selvaraj SM, Narang B, Darvishi K, Bhayal AC, Katikala L, Guo F, Chen-Deutsch X, Balciuniene J, Ma Z, Nallamilli BRR, Bean L, Collins C, Hegde M.
Duraisamy AJ, et al. Among authors: chen deutsch x.
J Mol Diagn. 2024 Jun;26(6):510-519. doi: 10.1016/j.jmoldx.2024.03.005. Epub 2024 Apr 4.
J Mol Diagn. 2024.
PMID: 38582400
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The pan-caspase inhibitor Q-VD-OPh has anti-leukemia effects and can interact with vitamin D analogs to increase HPK1 signaling in AML cells.
Chen-Deutsch X, Kutner A, Harrison JS, Studzinski GP.
Chen-Deutsch X, et al.
Leuk Res. 2012 Jul;36(7):884-8. doi: 10.1016/j.leukres.2012.03.023. Epub 2012 Apr 26.
Leuk Res. 2012.
PMID: 22541691
Free PMC article.
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Dual role of hematopoietic progenitor kinase 1 (HPK1) as a positive regulator of 1α,25-dihydroxyvitamin D-induced differentiation and cell cycle arrest of AML cells and as a mediator of vitamin D resistance.
Chen-Deutsch X, Studzinski GP.
Chen-Deutsch X, et al.
Cell Cycle. 2012 Apr 1;11(7):1364-73. doi: 10.4161/cc.19765. Epub 2012 Apr 1.
Cell Cycle. 2012.
PMID: 22421156
Free PMC article.
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c-Jun N-terminal kinase 2 (JNK2) antagonizes the signaling of differentiation by JNK1 in human myeloid leukemia cells resistant to vitamin D.
Chen-Deutsch X, Garay E, Zhang J, Harrison JS, Studzinski GP.
Chen-Deutsch X, et al.
Leuk Res. 2009 Oct;33(10):1372-8. doi: 10.1016/j.leukres.2009.03.003. Epub 2009 Mar 31.
Leuk Res. 2009.
PMID: 19339050
Free PMC article.
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