Year |
Citation |
Score |
2023 |
Hartley T, Marshall D, Acker M, Fooks K, Gillespie MK, Price EM, Graham ID, White-Brown A, MacKay L, Macdonald SK, Brady L, Hui AY, Andrews JD, Chowdhury A, Wall E, ... ... Shuen AY, et al. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for rare disease patients in a publicly-funded healthcare system: a prospective cohort study. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101012. PMID 37924259 DOI: 10.1016/j.gim.2023.101012 |
0.306 |
|
2022 |
Villani A, Davidson S, Kanwar N, Lo WW, Li Y, Cohen-Gogo S, Fuligni F, Edward LM, Light N, Layeghifard M, Harripaul R, Waldman L, Gallinger B, Comitani F, Brunga L, ... ... Shuen A, et al. The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations. Nature Cancer. PMID 36585449 DOI: 10.1038/s43018-022-00474-y |
0.382 |
|
2021 |
Aronson M, Colas C, Shuen A, Hampel H, Foulkes WD, Baris Feldman H, Goldberg Y, Muleris M, Wolfe Schneider K, McGee RB, Jasperson K, Rangaswami A, Brugieres L, Tabori U. Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group. Journal of Medical Genetics. PMID 33622763 DOI: 10.1136/jmedgenet-2020-107627 |
0.415 |
|
2019 |
Shuen AY, Lanni S, Panigrahi GB, Edwards M, Yu L, Campbell BB, Mandel A, Zhang C, Zhukova N, Alharbi M, Bernstein M, Bowers DC, Carroll S, Cole KA, Constantini S, et al. Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology. JCO1800474. PMID 30608896 DOI: 10.1200/Jco.18.00474 |
0.364 |
|
2017 |
Guarnieri V, Seaberg RM, Kelly C, Jean Davidson M, Raphael S, Shuen AY, Baorda F, Palumbo O, Scillitani A, Hendy GN, Cole DEC. Erratum to: Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family. Bmc Medical Genetics. 18: 99. PMID 28903740 DOI: 10.1186/S12881-017-0459-7 |
0.369 |
|
2017 |
Guarnieri V, Seaberg RM, Kelly C, Jean Davidson M, Raphael S, Shuen AY, Baorda F, Palumbo O, Scillitani A, Hendy GN, Cole DEC. Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family. Bmc Medical Genetics. 18: 83. PMID 28774260 DOI: 10.1186/S12881-017-0445-0 |
0.31 |
|
2015 |
Kansal R, Li X, Shen J, Samuel D, Laningham F, Lee H, Panigrahi GB, Shuen A, Kantarci S, Dorrani N, Reiss J, Shintaku P, Deignan JL, Strom SP, Pearson CE, et al. An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study. Genes, Chromosomes & Cancer. PMID 26542077 DOI: 10.1002/Gcc.22319 |
0.321 |
|
2014 |
Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, ... ... Shuen A, et al. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. American Journal of Medical Genetics. Part A. 164: 1713-33. PMID 24782230 DOI: 10.1002/ajmg.a.36552 |
0.391 |
|
2013 |
Foulkes WD, Shuen AY. In brief: BRCA1 and BRCA2. The Journal of Pathology. 230: 347-9. PMID 23620175 DOI: 10.1002/path.4205 |
0.315 |
|
2013 |
Sabbaghian N, Bahubeshi A, Shuen AY, Kanetsky PA, Tischkowitz MD, Nathanson KL, Foulkes WD. Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours. Bmc Research Notes. 6: 127. PMID 23547758 DOI: 10.1186/1756-0500-6-127 |
0.314 |
|
Show low-probability matches. |