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Page 1
Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man.
Lopera F, Marino C, Chandrahas AS, O'Hare M, Villalba-Moreno ND, Aguillon D, Baena A, Sanchez JS, Vila-Castelar C, Ramirez Gomez L, Chmielewska N, Oliveira GM, Littau JL, Hartmann K, Park K, Krasemann S, Glatzel M, Schoemaker D, Gonzalez-Buendia L, Delgado-Tirado S, Arevalo-Alquichire S, Saez-Torres KL, Amarnani D, Kim LA, Mazzarino RC, Gordon H, Bocanegra Y, Villegas A, Gai X, Bootwalla M, Ji J, Shen L, Kosik KS, Su Y, Chen Y, Schultz A, Sperling RA, Johnson K, Reiman EM, Sepulveda-Falla D, Arboleda-Velasquez JF, Quiroz YT. Lopera F, et al. Among authors: ji j. Nat Med. 2023 May;29(5):1243-1252. doi: 10.1038/s41591-023-02318-3. Epub 2023 May 15. Nat Med. 2023. PMID: 37188781 Free PMC article.
Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.
Arboleda-Velasquez JF, Lopera F, O'Hare M, Delgado-Tirado S, Marino C, Chmielewska N, Saez-Torres KL, Amarnani D, Schultz AP, Sperling RA, Leyton-Cifuentes D, Chen K, Baena A, Aguillon D, Rios-Romenets S, Giraldo M, Guzmán-Vélez E, Norton DJ, Pardilla-Delgado E, Artola A, Sanchez JS, Acosta-Uribe J, Lalli M, Kosik KS, Huentelman MJ, Zetterberg H, Blennow K, Reiman RA, Luo J, Chen Y, Thiyyagura P, Su Y, Jun GR, Naymik M, Gai X, Bootwalla M, Ji J, Shen L, Miller JB, Kim LA, Tariot PN, Johnson KA, Reiman EM, Quiroz YT. Arboleda-Velasquez JF, et al. Among authors: ji j. Nat Med. 2019 Nov;25(11):1680-1683. doi: 10.1038/s41591-019-0611-3. Epub 2019 Nov 4. Nat Med. 2019. PMID: 31686034 Free PMC article.
Low-pass whole-genome and targeted sequencing of cell-free DNA from cerebrospinal fluid in pediatric patients with central nervous system tumors.
O'Halloran K, Yellapantula V, Christodoulou E, Ostrow D, Bootwalla M, Ji J, Cotter J, Chapman N, Chu J, Margol A, Krieger MD, Chiarelli PA, Gai X, Biegel JA. O'Halloran K, et al. Among authors: ji j. Neurooncol Adv. 2023 Jun 28;5(1):vdad077. doi: 10.1093/noajnl/vdad077. eCollection 2023 Jan-Dec. Neurooncol Adv. 2023. PMID: 37461402 Free PMC article.
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors.
Buckley J, Schmidt RJ, Ostrow D, Maglinte D, Bootwalla M, Ruble D, Govindarajan A, Ji J, Kovach AE, Orgel E, Raca G, Navid F, Mascarenhas L, Pawel B, Robison N, Gai X, Biegel JA. Buckley J, et al. Among authors: ji j. J Mol Diagn. 2024 Feb;26(2):127-139. doi: 10.1016/j.jmoldx.2023.11.003. Epub 2023 Nov 24. J Mol Diagn. 2024. PMID: 38008288
OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies.
Hiemenz MC, Ostrow DG, Busse TM, Buckley J, Maglinte DT, Bootwalla M, Done J, Ji J, Raca G, Ryutov A, Xu X, Zhen CJ, Conroy JM, Hazard FK, Deignan JL, Rogers BB, Treece AL, Parham DM, Gai X, Judkins AR, Triche TJ, Biegel JA. Hiemenz MC, et al. Among authors: ji j. J Mol Diagn. 2018 Nov;20(6):765-776. doi: 10.1016/j.jmoldx.2018.06.009. Epub 2018 Aug 20. J Mol Diagn. 2018. PMID: 30138724 Free article.
A community approach to the cancer-variant-interpretation bottleneck.
Krysiak K, Danos AM, Kiwala S, McMichael JF, Coffman AC, Barnell EK, Sheta L, Saliba J, Grisdale CJ, Kujan L, Pema S, Lever J, Spies NC, Chiorean A, Rieke DT, Clark KA, Jani P, Takahashi H, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Lamping M, Marr AR, Li BV, Lin WH, Terraf P, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith OL, Griffith M. Krysiak K, et al. Among authors: ji j. Nat Cancer. 2022 May;3(5):522-525. doi: 10.1038/s43018-022-00379-w. Nat Cancer. 2022. PMID: 35624339 Free PMC article.
7,378 results