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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
862022
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
682018
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
362022
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
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
102021
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
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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