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PubMed Mentions:
1 Fields:
Translation:
Humans
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Clinical, pathologic, and genomic characteristics of two pediatric glioneuronal tumors with a CLIP2::MET fusion. Acta Neuropathol Commun. 2024 04 22; 12(1):63.
Chapman N, Greenwald J, Suddock J, Xu D, Markowitz A, Humphrey M, Cotter JA, Krieger MD, Hawes D, Ji J. PMID: 38650040; PMCID: PMC11036580.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Microarray-Based DNA Methylation Profiling: Validation Considerations for Clinical Testing. J Mol Diagn. 2024 Jun; 26(6):447-455.
Leung ML, Abdullaev Z, Santana-Santos L, Skaugen JM, Moore S, Ji J. PMID: 38378079; PMCID: PMC11238273.
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HumansCells
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Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis. J Mol Diagn. 2024 May; 26(5):337-348.
Lee B, Nasanovsky L, Shen L, Maglinte DT, Pan Y, Gai X, Schmidt RJ, Raca G, Biegel JA, Roytman M, An P, Saunders CJ, Farrow EG, Shams S, Ji J. PMID: 38360210.
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Humans
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Clinical Utility and Long-Term Feasibility of Exome and Genome Reanalysis: From the Perspectives of a Clinical Laboratory. J Appl Lab Med. 2024 Jan 03; 9(1):162-167.
Ji J, Leung ML. PMID: 38167756.
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Humans
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Slice Testing-Considerations from Ordering to Reporting: A Joint Report of the Association for Molecular Pathology, College of American Pathologists, and National Society of Genetic Counselors. J Mol Diagn. 2024 Mar; 26(3):159-167.
SoRelle JA, Funke BH, Eno CC, Ji J, Santani A, Bayrak-Toydemir P, Wachsmann M, Wain KE, Mao R. PMID: 38103592.
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Humans
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An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors. J Mol Diagn. 2024 02; 26(2):127-139.
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. PMID: 38008288.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Comparative Clinicopathologic and Genomic Analysis of Hepatocellular Neoplasm, Not Otherwise Specified, and Hepatoblastoma. Mod Pathol. 2024 Feb; 37(2):100385.
Zhou S, Sarabia SF, Estrine D, Ostrow D, Schmidt RJ, Warren M, Raca G, Shillingford N, Wang L, Pawel B, Stein JE, Biegel JA, Lopez-Terrada D, Mascarenhas L, Ji J. PMID: 37992967.
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Humans
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PubMed Mentions:
1 Fields:
Translation:
HumansCells
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Low-pass whole-genome and targeted sequencing of cell-free DNA from cerebrospinal fluid in pediatric patients with central nervous system tumors. Neurooncol Adv. 2023 Jan-Dec; 5(1):vdad077.
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. PMID: 37461402; PMCID: PMC10349915.
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PubMed Mentions:
5
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Uterine Leiomyosarcoma With Osteoclast-like Giant Cells: Report of 2 Cases and Review of Literature. Int J Gynecol Pathol. 2024 Mar 01; 43(2):182-189.
Chen Z, Ji J, Yung E, Martin SE, Walia S. PMID: 37406452.
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PubMed Mentions:
1 Fields:
Translation:
HumansCells
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Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome? J Clin Sleep Med. 2023 06 01; 19(6):1161-1164.
Wo LL, Itani R, Keens TG, Marachelian A, Ji J, Perez IA. PMID: 36798979; PMCID: PMC10235709.
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Humans
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Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man. Nat Med. 2023 05; 29(5):1243-1252.
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. PMID: 37188781; PMCID: PMC10202812.
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PubMed Mentions:
43 Fields:
Translation:
HumansAnimalsCells
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CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase. Nucleic Acids Res. 2023 01 06; 51(D1):D1230-D1241.
Krysiak K, Danos AM, Saliba J, McMichael JF, Coffman AC, Kiwala S, Barnell EK, Sheta L, Grisdale CJ, Kujan L, Pema S, Lever J, Ridd S, Spies NC, Andric V, Chiorean A, Rieke DT, Clark KA, Reisle C, Venigalla AC, Evans M, Jani P, Takahashi H, Suda A, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Kesserwan C, Lamping M, Shen H, Marr AR, Hoang MH, Singhal K, Khanfar M, Li BV, Lin WH, Terraf P, Corson LB, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, King I, 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 M, Griffith OL. PMID: 36373660; PMCID: PMC9825608.
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PubMed Mentions:
8 Fields:
Translation:
Humans
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Multi-institutional study of the frequency, genomic landscape, and outcome of IDH-mutant glioma in pediatrics. Neuro Oncol. 2023 01 05; 25(1):199-210.
Yeo KK, Alexandrescu S, Cotter JA, Vogelzang J, Bhave V, Li MM, Ji J, Benhamida JK, Rosenblum MK, Bale TA, Bouvier N, Kaneva K, Rosenberg T, Lim-Fat MJ, Ghosh H, Martinez M, Aguilera D, Smith A, Goldman S, Diamond EL, Gavrilovic I, MacDonald TJ, Wood MD, Nazemi KJ, Truong A, Cluster A, Ligon KL, Cole K, Bi WL, Margol AS, Karajannis MA, Wright KD. PMID: 35604410; PMCID: PMC9825351.
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PubMed Mentions:
7 Fields:
Translation:
Humans
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A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype. Calcif Tissue Int. 2023 04; 112(4):518-523.
Ryabets-Lienhard A, Panjawatanan P, Vogt K, Ji J, Georgia S, Pitukcheewanont P. PMID: 36575358.
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Humans
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PubMed Mentions:
3 Fields:
Translation:
Humans
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A community approach to the cancer-variant-interpretation bottleneck. Nat Cancer. 2022 05; 3(5):522-525.
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. PMID: 35624339; PMCID: PMC9872366.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute. J Mol Diagn. 2022 02; 24(2):177-188.
Leung ML, Ji J, Baker S, Buchan JG, Sivakumaran TA, Krock BL, Hutchins R, Bayrak-Toydemir P, Pfeifer J, Cremona ML, Funke B, Santani AB. PMID: 35074075.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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Mechanisms of targeted therapy resistance in a pediatric glioma driven by ETV6-NTRK3 fusion. Cold Spring Harb Mol Case Stud. 2021 10; 7(5).
Keddy C, Neff T, Huan J, Nickerson JP, Beach CZ, Akkari Y, Ji J, Moore S, Nazemi KJ, Corless CL, Beadling C, Woltjer R, Cho YJ, Wood MD, Davare MA. PMID: 34429303; PMCID: PMC8559620.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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Clinical Exome Reanalysis: Current Practice and Beyond. Mol Diagn Ther. 2021 09; 25(5):529-536.
Ji J, Leung ML, Baker S, Deignan JL, Santani A. PMID: 34283395; PMCID: PMC8410709.
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PubMed Mentions:
17 Fields:
Translation:
Humans
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Safety of intravenous thrombolysis in stroke of unknown time of onset: A systematic review and meta-analysis. J Thromb Thrombolysis. 2021 Nov; 52(4):1173-1181.
Wang C, Wang W, Ji J, Wang J, Zhang R, Wang Y. PMID: 33963484.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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IDH-mutant brainstem gliomas in adolescent and young adult patients: Report of three cases and review of the literature. Brain Pathol. 2021 07; 31(4):e12959.
Chang EK, Smith-Cohn MA, Tamrazi B, Ji J, Krieger M, Holdhoff M, Eberhart CG, Margol AS, Cotter JA. PMID: 33960568; PMCID: PMC8412065.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults. Neurooncol Adv. 2021 Jan-Dec; 3(1):vdab037.
Ji J, Kaneva K, Hiemenz MC, Dhall G, Davidson TB, Erdreich-Epstein A, Hawes D, Hurth K, Margol AS, Mathew AJ, Robison NJ, Schmidt RJ, Tran HN, Judkins AR, Cotter JA, Biegel JA. PMID: 33948563; PMCID: PMC8080244.
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PubMed Mentions:
4
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A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies. Cancer Genet. 2021 06; 254-255:25-33.
Hiemenz MC, Oberley MJ, Doan A, Aye L, Ji J, Schmidt RJ, Biegel JA, Bhojwani D, Raca G. PMID: 33571894.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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Bronchiectasis and Bronchiolectasis With Severe Herniating Pattern Associated With STAT1 Gain-of-Function Mutation: Detailed Clinicopathological Findings. Pediatr Dev Pathol. 2021 Mar-Apr; 24(2):131-136.
Takeda MR, Bansal M, Kamerman-Kretzmer RJ, Church J, Ji J, Warren M. PMID: 33439110.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care. Pediatr Neurol. 2021 01; 114:55-59.
Quindipan C, Cotter JA, Ji J, Mitchell WG, Moke DJ, Navid F, Thomas SM, VanHirtum-Das M, Wang L, Saitta SC, Biegel JA, Hiemenz MC. PMID: 33221597.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Reappraise role of No. 10 lymphadenectomy for proximal gastric cancer in the era of minimal invasive surgery during total gastrectomy: a pooled analysis of 4 prospective trial. Gastric Cancer. 2021 Jan; 24(1):245-257.
Zhong Q, Chen QY, Xu YC, Zhao G, Cai LS, Li GX, Xu ZK, Yan S, Wu ZG, Xue FQ, Sun YH, Xu DP, Zhang WB, Wan J, Yu PW, Hu JK, Su XQ, Ji JF, Li ZY, You J, Li Y, Fan L, Zheng CH, Xie JW, Li P, Huang CM. PMID: 32712769.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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Safety and feasibility of laparoscopic spleen-preserving No. 10 lymph node dissection for locally advanced upper third gastric cancer: a prospective, multicenter clinical trial. Surg Endosc. 2020 11; 34(11):5062-5073.
Zheng CH, Xu YC, Zhao G, Cai LS, Li GX, Xu ZK, Yan S, Wu ZG, Xue FQ, Sun YH, Xu DB, Zhang WB, Yu PW, Hu JK, Su XQ, Ji JF, Li ZY, You J, Li Y, Huang CM, Chinese Laparoscopic Gastrointestinal Surgery Study (CLASS) Group. PMID: 31823047.
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PubMed Mentions:
12 Fields:
Translation:
Humans
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Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report. Nat Med. 2019 11; 25(11):1680-1683.
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. PMID: 31686034; PMCID: PMC6898984.
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PubMed Mentions:
229 Fields:
Translation:
Humans
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Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management. Genet Med. 2019 11; 21(11):2644-2649.
Sheppard SE, Lalonde E, Adzick NS, Beck AE, Bhatti T, De Leon DD, Duffy KA, Ganguly A, Hathaway E, Ji J, Linn R, Lord K, Randolph LM, Sajorda B, States L, Conlin LK, Kalish JM. PMID: 31147633; PMCID: PMC7848850.
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PubMed Mentions:
8 Fields:
Translation:
HumansCells
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A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants. Cold Spring Harb Mol Case Stud. 2019 04; 5(2).
Ji J, Shen L, Bootwalla M, Quindipan C, Tatarinova T, Maglinte DT, Buckley J, Raca G, Saitta SC, Biegel JA, Gai X. PMID: 30755392; PMCID: PMC6549575.
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PubMed Mentions:
17 Fields:
Translation:
Humans
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PubMed Mentions:
2 Fields:
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Unusual radiological and histological presentation of a diffuse leptomeningeal glioneuronal tumor (DLGNT) in a 13-year-old girl. Childs Nerv Syst. 2019 09; 35(9):1609-1614.
Tiwari N, Tamrazi B, Robison N, Krieger M, Ji J, Tian D. PMID: 30770994; PMCID: PMC7474550.
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PubMed Mentions:
10 Fields:
Translation:
Humans
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Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant. Cancer Genet. 2019 02; 231-232:62-66.
Ji J, Navid F, Hiemenz MC, Kaneko M, Zhou S, Saitta SC, Biegel JA. PMID: 30803559; PMCID: PMC7528629.
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PubMed Mentions:
7 Fields:
Translation:
Humans
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OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies. J Mol Diagn. 2018 11; 20(6):765-776.
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. PMID: 30138724.
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PubMed Mentions:
34 Fields:
Translation:
Humans
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Myeloid lineage switch following chimeric antigen receptor T-cell therapy in a patient with TCF3-ZNF384 fusion-positive B-lymphoblastic leukemia. Pediatr Blood Cancer. 2018 09; 65(9):e27265.
Oberley MJ, Gaynon PS, Bhojwani D, Pulsipher MA, Gardner RA, Hiemenz MC, Ji J, Han J, O'Gorman MRG, Wayne AS, Raca G. PMID: 29797659; PMCID: PMC7469918.
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PubMed Mentions:
35 Fields:
Translation:
HumansCells
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Interstitial Chromosome 3p13p14 Deletions: An Update and Review. Mol Syndromol. 2018 May; 9(3):122-133.
Hajek CA, Ji J, Saitta SC. PMID: 29928177; PMCID: PMC6006617.
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PubMed Mentions:
2
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Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. Am J Med Genet A. 2018 04; 176(4):862-876.
Menke LA, DDD study, Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B, Hennekam RC. PMID: 29460469.
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PubMed Mentions:
33 Fields:
Translation:
Humans
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A neoplasm with FIP1L1-PDGFRA fusion presenting as pediatric T-cell lymphoblastic leukemia/lymphoma without eosinophilia. Cancer Genet. 2017 Oct; 216-217:91-99.
Oberley MJ, Denton C, Ji J, Hiemenz M, Bhojwani D, Ostrow D, Wu S, Gaynon P, Raca G. PMID: 29025601; PMCID: PMC7469920.
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PubMed Mentions:
3 Fields:
Translation:
HumansCells
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Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma. Am J Med Genet A. 2017 May; 173(5):1390-1395.
Ji J, Quindipan C, Parham D, Shen L, Ruble D, Bootwalla M, Maglinte DT, Gai X, Saitta SC, Biegel JA, Mascarenhas L. PMID: 28371217; PMCID: PMC7521841.
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PubMed Mentions:
21 Fields:
Translation:
HumansCells
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DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. Eur J Hum Genet. 2015 Nov; 23(11):1473-81.
Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, Wisniowiecka-Kowalnik B, Fox M, Deignan JL, Vilain E, Hendricks E, Horton Harr M, Noon SE, Jackson JR, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai EH, Krantz I, Innes AM, Nelson SF, Grody WW, Quintero-Rivera F. PMID: 25944381; PMCID: PMC4613469.
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PubMed Mentions:
68 Fields:
Translation:
Humans
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Acute myeloid leukemia with t(7;21)(p22;q22) and 5q deletion: a case report and literature review. Exp Hematol Oncol. 2014; 3:8.
Ji J, Loo E, Pullarkat S, Yang L, Tirado CA. PMID: 24646765; PMCID: PMC4012275.
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PubMed Mentions:
5
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Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects. Eur J Med Genet. 2014 May-Jun; 57(6):267-8.
Ji J, Salamon N, Quintero-Rivera F. PMID: 24657733.
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PubMed Mentions:
10 Fields:
Translation:
Humans
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Overlapping features between dedifferentiated liposarcoma and undifferentiated high-grade pleomorphic sarcoma. Am J Surg Pathol. 2009 Nov; 33(11):1594-600.
Chung L, Lau SK, Jiang Z, Loera S, Bedel V, Ji J, Weiss LM, Chu PG. PMID: 19574885.
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PubMed Mentions:
8 Fields:
Translation:
HumansCells
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[Expression of vascular endothelial growth factor in patients with aplastic anemia and its significance]. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2006 Apr; 14(2):285-8.
Ji JL, Liu H, Sun C, Jiang SH, Ding RS. PMID: 16638198.
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PubMed Mentions:
1 Fields:
Translation:
HumansCells
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Bone marrow angiogenesis in aplastic anemia. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2006 Feb; 14(1):79-82.
Ji JL, Xu MY, Huang F, Liu H. PMID: 16584597.
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PubMed Mentions:
2 Fields:
Translation:
Humans