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136,335 results

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Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma.
Xu F, Viaene AN, Ruiz J, Schubert J, Wu J, Chen J, Cao K, Fu W, Bagatell R, Fan Z, Long A, Pagliaroli L, Zhong Y, Luo M, Kreiger PA, Surrey LF, Wertheim GB, Cole KA, Li MM, Santi M, Storm PB. Xu F, et al. Among authors: chen j. Acta Neuropathol Commun. 2022 Jul 14;10(1):102. doi: 10.1186/s40478-022-01401-z. Acta Neuropathol Commun. 2022. PMID: 35836290 Free PMC article.
Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.
Yamamoto N, Balciuniene J, Hartman T, Diaz-Miranda MA, Bedoukian E, Devkota B, Lawrence A, Golenberg N, Patel M, Tare A, Chen R, Schindler E, Choi J, Kaur M, Charles S, Chen J, Fanning EA, Dechene E, Cao K, Jill MR, Rajagopalan R, Bayram Y, Dulik MC, Germiller J, Conlin LK, Krantz ID, Luo M. Yamamoto N, et al. Among authors: chen j, chen r. J Pediatr. 2023 Nov;262:113620. doi: 10.1016/j.jpeds.2023.113620. Epub 2023 Jul 19. J Pediatr. 2023. PMID: 37473993
Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
Lin F, Cao K, Chang F, Oved JH, Luo M, Fan Z, Schubert J, Wu J, Zhong Y, Gallo DJ, Denenberg EH, Chen J, Fanning EA, Lambert MP, Paessler ME, Surrey LF, Zelley K, MacFarland S, Kurre P, Olson TS, Li MM. Lin F, et al. Among authors: chen j. J Mol Diagn. 2024 Mar;26(3):191-201. doi: 10.1016/j.jmoldx.2023.11.010. Epub 2023 Dec 14. J Mol Diagn. 2024. PMID: 38103590 Free article.
Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly versus paired tumor-normal sequencing.
Newman H, Clark ME, Wong D, Wu J, Brodeur GM, Hunger SP, Tasian SK, Olson T, Warren JT, Teachey DT, Bona K, Schubert J, Golenberg N, Patel M, Denenberg EH, Fanning EA, Chen J, Luke T, Charles S, Gallo D, Cao K, Fu W, Fan Z, Surrey LF, Wertheim G, Luo M, MacFarland SP, Li MM, Zhong Y. Newman H, et al. Among authors: chen j. Haematologica. 2024 Sep 1;109(9):3024-3030. doi: 10.3324/haematol.2023.284855. Haematologica. 2024. PMID: 38385299 Free PMC article. No abstract available.
Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence.
Luo M, Wong D, Zelley K, Wu J, Schubert J, Denenberg EH, Fanning EA, Chen J, Gallo D, Golenberg N, Patel M, Conlin LK, Maxwell KN, Wertheim GB, Surrey LF, Zhong Y, Brodeur GM, MacFarland SP, Li MM. Luo M, et al. Among authors: chen j. J Natl Cancer Inst. 2024 Aug 1;116(8):1356-1365. doi: 10.1093/jnci/djae102. J Natl Cancer Inst. 2024. PMID: 38702830
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
Zweier M, Begemann A, McWalter K, Cho MT, Abela L, Banka S, Behring B, Berger A, Brown CW, Carneiro M, Chen J, Cooper GM; Deciphering Developmental Disorders (DDD) Study; Finnila CR, Guillen Sacoto MJ, Henderson A, Hüffmeier U, Joset P, Kerr B, Lesca G, Leszinski GS, McDermott JH, Meltzer MR, Monaghan KG, Mostafavi R, Õunap K, Plecko B, Powis Z, Purcarin G, Reimand T, Riedhammer KM, Schreiber JM, Sirsi D, Wierenga KJ, Wojcik MH, Papuc SM, Steindl K, Sticht H, Rauch A. Zweier M, et al. Among authors: chen j. Eur J Hum Genet. 2019 May;27(5):747-759. doi: 10.1038/s41431-018-0331-z. Epub 2019 Jan 21. Eur J Hum Genet. 2019. PMID: 30664714 Free PMC article.
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
Wang J, Rousseau J, Kim E, Ehresmann S, Cheng YT, Duraine L, Zuo Z, Park YJ, Li-Kroeger D, Bi W, Wong LJ, Rosenfeld J, Gleeson J, Faqeih E, Alkuraya FS, Wierenga KJ, Chen J, Afenjar A, Nava C, Doummar D, Keren B, Juusola J, Grompe M, Bellen HJ, Campeau PM. Wang J, et al. Among authors: chen j. Am J Hum Genet. 2019 Dec 5;105(6):1237-1253. doi: 10.1016/j.ajhg.2019.11.002. Epub 2019 Nov 27. Am J Hum Genet. 2019. PMID: 31785787 Free PMC article.
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Peng Y, Shinde DN, Valencia CA, Mo JS, Rosenfeld J, Truitt Cho M, Chamberlin A, Li Z, Liu J, Gui B, Brockhage R, Basinger A, Alvarez-Leon B, Heydemann P, Magoulas PL, Lewis AM, Scaglia F, Gril S, Chong SC, Bower M, Monaghan KG, Willaert R, Plona MR, Dineen R, Milan F, Hoganson G, Powis Z, Helbig KL, Keller-Ramey J, Harris B, Anderson LC, Green T, Sukoff Rizzo SJ, Kaylor J, Chen J, Guan MX, Sellars E, Sparagana SP, Gibson JB, Reinholdt LG, Tang S, Huang T. Peng Y, et al. Among authors: chen j. Hum Mol Genet. 2017 Dec 15;26(24):4937-4950. doi: 10.1093/hmg/ddx377. Hum Mol Genet. 2017. PMID: 29040572 Free PMC article.
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