Year |
Citation |
Score |
2022 |
McAfee JL, Scarborough R, Jia XS, Azzato EM, Astbury C, Ronen S, Andea AA, Billings SD, Ko JS. Combined Utility of p16 and BRAF V600E in the Evaluation of Spitzoid Tumors: Superiority to PRAME and Correlation with FISH. Journal of Cutaneous Pathology. PMID 36261329 DOI: 10.1111/cup.14342 |
0.44 |
|
2020 |
Riley JD, Delahunty C, Alsadah A, Mazzola S, Astbury C. Further evidence of GABRA4 and TOP3B as autism susceptibility genes. European Journal of Medical Genetics. 103876. PMID 32028044 DOI: 10.1016/j.ejmg.2020.103876 |
0.33 |
|
2019 |
Riley JD, Stefaniuk CM, Erenberg F, Erwin AL, Palange L, Astbury C. Corrigendum to "Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features". Case Reports in Genetics. 2019: 4361630. PMID 31871800 DOI: 10.1155/2019/4361630 |
0.325 |
|
2019 |
Riley JD, Stefaniuk CM, Erenberg F, Erwin AL, Palange L, Astbury C. Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features. Case Reports in Genetics. 2019: 5384295. PMID 31428485 DOI: 10.1155/2019/5384295 |
0.321 |
|
2019 |
Zarei S, Abdul-Karim FW, Chase DM, Astbury C, Policarpio-Nicolas MLC. Uterine Inflammatory Myofibroblastic Tumor Showing an Atypical ALK Signal Pattern by FISH and DES-ALK Fusion by RNA Sequencing: A Case Report. International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists. PMID 30741845 DOI: 10.1097/PGP.0000000000000588 |
0.328 |
|
2018 |
Barrie ES, Li Y, Lamb-Thrush D, Hashimoto S, Jacobson T, Mouhlas D, Pyatt R, Reshmi SC, Gastier-Foster JM, Pfau R, Astbury C. Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant. European Journal of Medical Genetics. PMID 29572065 DOI: 10.1016/J.Ejmg.2018.02.008 |
0.437 |
|
2017 |
Kekis M, Deeg C, Hashimoto S, McKinney A, Erdman L, Green-Geer C, Shuss C, Hickey S, Astbury C, Pyatt RE. Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11. American Journal of Medical Genetics. Part A. 173: 1056-1060. PMID 28328127 DOI: 10.1002/ajmg.a.38098 |
0.485 |
|
2013 |
Pfau RB, Thrush DL, Hamelberg E, Bartholomew D, Botes S, Pastore M, Tan C, del Gaudio D, Gastier-Foster JM, Astbury C. MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation. European Journal of Medical Genetics. 56: 609-13. PMID 24080358 DOI: 10.1016/j.ejmg.2013.09.007 |
0.401 |
|
2013 |
Hickey SE, Biswas S, Thrush DL, Pyatt RE, Gastier-Foster JM, Astbury C, Atkin J. Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion. European Journal of Medical Genetics. 56: 521-5. PMID 23895773 DOI: 10.1016/j.ejmg.2013.07.004 |
0.462 |
|
2013 |
Hickey SE, Thrush DL, Walters-Sen L, Reshmi SC, Astbury C, Gastier-Foster JM, Atkin J. A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation. European Journal of Medical Genetics. 56: 510-4. PMID 23856564 DOI: 10.1016/J.Ejmg.2013.05.010 |
0.452 |
|
2012 |
Alyaqoub F, Pyatt RE, Bailes A, Brock A, Deeg C, McKinney A, Astbury C, Reshmi S, Shane KP, Thrush DL, Sommer A, Gastier-Foster JM. 12q14 microdeletion associated with HMGA2 gene disruption and growth restriction. American Journal of Medical Genetics. Part A. 158: 2925-30. PMID 22987822 DOI: 10.1002/Ajmg.A.35610 |
0.386 |
|
2012 |
Repnikova EA, Astbury C, Reshmi SC, Ramsey SN, Atkin JF, Thrush DL, Mitchell AL, Pyatt RE, Reber K, Slavin T, Gastier-Foster JM. Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients. American Journal of Medical Genetics. Part A. 158: 1924-33. PMID 22786685 DOI: 10.1002/Ajmg.A.35477 |
0.392 |
|
2012 |
Cottrell CE, Mendell J, Hart-Kothari M, Ell D, Thrush DL, Astbury C, Pastore M, Gastier-Foster JM, Pyatt RE. Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology. Clinical Genetics. 81: 578-83. PMID 21480868 DOI: 10.1111/j.1399-0004.2011.01681.x |
0.327 |
|
2011 |
Astbury C. Preface: Cytogenetics. Clinics in Laboratory Medicine. 31: xiii-xv. PMID 22118749 DOI: 10.1016/j.cll.2011.08.017 |
0.458 |
|
2010 |
Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, et al. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. American Journal of Human Genetics. 86: 454-61. PMID 20206336 DOI: 10.1016/j.ajhg.2010.01.038 |
0.404 |
|
2004 |
Astbury C, Christ LA, Aughton DJ, Cassidy SB, Kumar A, Eichler EE, Schwartz S. Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 6: 81-9. PMID 15017330 DOI: 10.1097/01.Gim.0000117850.04443.C9 |
0.513 |
|
2004 |
Astbury C, Christ LA, Aughton DJ, Cassidy SB, Fujimoto A, Pletcher BA, Schafer IA, Schwartz S. Delineation of complex chromosomal rearrangements: evidence for increased complexity. Human Genetics. 114: 448-57. PMID 14767757 DOI: 10.1007/s00439-003-1079-1 |
0.494 |
|
2003 |
Jackson-Cook C, Zou Y, Turner K, Astbury C, Ware J. A novel tumorigenic human prostate epithelial cell line (M2205): molecular cytogenetic characterization demonstrates C-MYC amplification and jumping translocations. Cancer Genetics and Cytogenetics. 141: 56-64. PMID 12581899 DOI: 10.1016/S0165-4608(02)00665-9 |
0.496 |
|
2001 |
Astbury C, Jackson-Cook CK, Culp SH, Paisley TE, Ware JL. Suppression of tumorigenicity in the human prostate cancer cell line M12 via microcell-mediated restoration of chromosome 19. Genes, Chromosomes & Cancer. 31: 143-55. PMID 11319802 DOI: 10.1002/Gcc.1128 |
0.493 |
|
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