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Xinjie XU
Xinjie XU
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Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics …
P Horak, M Griffith, AM Danos, BA Pitel, S Madhavan, X Liu, C Chow, ...
Genetics in Medicine 24 (5), 986-998, 2022
842022
OncoKids: a comprehensive next-generation sequencing panel for pediatric malignancies
MC Hiemenz, DG Ostrow, TM Busse, J Buckley, DT Maglinte, M Bootwalla, ...
The Journal of Molecular Diagnostics 20 (6), 765-776, 2018
672018
Human A53T α-synuclein causes reversible deficits in mitochondrial function and dynamics in primary mouse cortical neurons
L Li, S Nadanaciva, Z Berger, W Shen, K Paumier, J Schwartz, K Mou, ...
PloS one 8 (12), e85815, 2013
622013
Carbonic anhydrase related protein 8 mutation results in aberrant synaptic morphology and excitatory synaptic function in the cerebellum
M Hirasawa, X Xu, RB Trask, TP Maddatu, BA Johnson, JK Naggert, ...
Molecular and Cellular Neuroscience 35 (1), 161-170, 2007
562007
Mutation in archain 1, a subunit of COPI coatomer complex, causes diluted coat color and Purkinje cell degeneration
X Xu, R Kedlaya, H Higuchi, S Ikeda, MJ Justice, V Setaluri, A Ikeda
PLoS genetics 6 (5), e1000956, 2010
552010
Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice: An evidence based review of clinical utility from the cancer …
R Kanagal-Shamanna, JC Hodge, T Tucker, S Shetty, A Yenamandra, ...
Cancer genetics 228, 197-217, 2018
402018
The advantage of using SNP array in clinical testing for hematological malignancies—a comparative study of three genetic testing methods
X Xu, EB Johnson, L Leverton, A Arthur, Q Watson, FL Chang, G Raca, ...
Cancer genetics 206 (9-10), 317-326, 2013
372013
Guiding the global evolution of cytogenetic testing for hematologic malignancies
YMN Akkari, LB Baughn, AM Dubuc, AC Smith, M Mallo, P Dal Cin, ...
Blood, The Journal of the American Society of Hematology 139 (15), 2273-2284, 2022
352022
Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence …
X Xu, C Bryke, M Sukhanova, E Huxley, DP Dash, A Dixon-Mciver, ...
Cancer genetics 228, 218-235, 2018
352018
Concurrent detection of targeted copy number variants and mutations using a myeloid malignancy next generation sequencing panel allows comprehensive genetic analysis using a …
W Shen, P Szankasi, M Sederberg, J Schumacher, KA Frizzell, EP Gee, ...
British journal of haematology 173 (1), 49-58, 2016
292016
Genome-wide copy number variation detection using NGS: data analysis and interpretation
W Shen, P Szankasi, J Durtschi, TW Kelley, X Xu
Tumor Profiling: Methods and Protocols, 113-124, 2019
172019
Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group
A Koleilat, JB Smadbeck, CJ Zepeda‐Mendoza, CM Williamson, BA Pitel, ...
Genes, Chromosomes and Cancer 61 (12), 710-719, 2022
142022
CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase
K Krysiak, AM Danos, J Saliba, JF McMichael, AC Coffman, S Kiwala, ...
Nucleic acids research 51 (D1), D1230-D1241, 2023
122023
Detection of genome-wide copy number variants in myeloid malignancies using next-generation sequencing
W Shen, CN Paxton, P Szankasi, M Longhurst, JA Schumacher, ...
Journal of Clinical Pathology 71 (4), 372-378, 2018
122018
Detection of cryptic CCND1 rearrangements in mantle cell lymphoma by next generation sequencing
K Polonis, MJ Schultz, H Olteanu, JB Smadbeck, SH Johnson, ...
Annals of Diagnostic Pathology 46, 151533, 2020
102020
Typical, atypical and cryptic t(15;17)(q24;q21) (PML::RARA) observed in acute promyelocytic leukemia: A retrospective review of 831 patients with concurrent chromosome …
MF Gagnon, HE Berg, RG Meyer, WR Sukov, DL Van Dyke, RB Jenkins, ...
Genes, Chromosomes and Cancer 61 (10), 629-634, 2022
92022
Clinical utility of next generation sequencing to detect IGH/IL3 rearrangements [t (5; 14)(q31. 1; q32. 1)] in B-lymphoblastic leukemia/lymphoma
AJ Guenzel, JB Smadbeck, CL Golden, CM Williamson, JCB Demasi, ...
Annals of Diagnostic Pathology 53, 151761, 2021
92021
Myeloid malignancies with 5q and 7q deletions are associated with extreme genomic complexity, biallelic TP53 variants, and very poor prognosis
BA Pitel, N Sharma, C Zepeda-Mendoza, JB Smadbeck, KE Pearce, ...
Blood cancer journal 11 (2), 18, 2021
92021
Genomic Copy Number Analysis of HER2-Equivocal Breast Cancers
KB Geiersbach, C Willmore-Payne, AV Pasi, CN Paxton, TL Werner, X Xu, ...
American Journal of Clinical Pathology 146 (4), 439-447, 2016
92016
Cryptic and atypical KMT2A‐USP2 and KMT2A‐USP8 rearrangements identified by mate pair sequencing in infant and childhood leukemia
PR Blackburn, JB Smadbeck, I Znoyko, MR Webley, BA Pitel, G Vasmatzis, ...
Genes, Chromosomes and Cancer 59 (7), 422-427, 2020
82020
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