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The genetic architecture of pediatric cardiomyopathy.
Ware SM, Bhatnagar S, Dexheimer PJ, Wilkinson JD, Sridhar A, Fan X, Shen Y, Tariq M, Schubert JA, Colan SD, Shi L, Canter CE, Hsu DT, Bansal N, Webber SA, Everitt MD, Kantor PF, Rossano JW, Pahl E, Rusconi P, Lee TM, Towbin JA, Lal AK, Chung WK, Miller EM, Aronow B, Martin LJ, Lipshultz SE; Pediatric Cardiomyopathy Registry Study Group. Ware SM, et al. Among authors: schubert ja. Am J Hum Genet. 2022 Feb 3;109(2):282-298. doi: 10.1016/j.ajhg.2021.12.006. Epub 2022 Jan 12. Am J Hum Genet. 2022. PMID: 35026164 Free PMC article.
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
Ware SM, Wilkinson JD, Tariq M, Schubert JA, Sridhar A, Colan SD, Shi L, Canter CE, Hsu DT, Webber SA, Dodd DA, Everitt MD, Kantor PF, Addonizio LJ, Jefferies JL, Rossano JW, Pahl E, Rusconi P, Chung WK, Lee T, Towbin JA, Lal AK, Bhatnagar S, Aronow B, Dexheimer PJ, Martin LJ, Miller EM, Sleeper LA, Razoky H, Czachor J, Lipshultz SE; Pediatric Cardiomyopathy Registry Study Group. Ware SM, et al. Among authors: schubert ja. J Am Heart Assoc. 2021 May 4;10(9):e017731. doi: 10.1161/JAHA.120.017731. Epub 2021 Apr 28. J Am Heart Assoc. 2021. PMID: 33906374 Free PMC article.
A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma.
Zhong Y, Schubert J, Wu J, Xu F, Lin F, Cao K, Zelley K, Luo M, Foster JB, Cole KA, MacFarland SP, Resnick AC, Storm PB, Li MM. Zhong Y, et al. Cold Spring Harb Mol Case Stud. 2020 Aug 25;6(4):a005397. doi: 10.1101/mcs.a005397. Print 2020 Aug. Cold Spring Harb Mol Case Stud. 2020. PMID: 32554798 Free PMC article.
A novel TP53 tandem duplication in a child with Li-Fraumeni syndrome.
Xu F, Aref-Eshghi E, Wu J, Schubert J, Wertheim G, Bhatti T, Pogoriler J, Patel M, Cao K, Long A, Fan Z, Denenberg EH, Fanning EA, Wilmoth DM, Luo M, Conlin LK, Dain AS, Zelley K, Baldino S, Balamuth N, MacFarland S, Li MM, Zhong Y. Xu F, et al. Cold Spring Harb Mol Case Stud. 2022 Apr 28;8(3):a006181. doi: 10.1101/mcs.a006181. Print 2022 Apr. Cold Spring Harb Mol Case Stud. 2022. PMID: 35232817 Free PMC article.
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. 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.
15 results