Year |
Citation |
Score |
2024 |
Church AJ, Akkari Y, Deeb K, Kolhe R, Lin F, Spiteri E, Wolff DJ, Shao L. Section E6.7-6.12 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards: Cytogenomic studies of acquired chromosomal abnormalities in solid tumors. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101070. PMID 38376505 DOI: 10.1016/j.gim.2024.101070 |
0.337 |
|
2003 |
Babcock M, Pavlicek A, Spiteri E, Kashork CD, Ioshikhes I, Shaffer LG, Jurka J, Morrow BE. Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution. Genome Research. 13: 2519-32. PMID 14656960 DOI: 10.1101/Gr.1549503 |
0.633 |
|
2003 |
Allen E, Horvath S, Tong F, Kraft P, Spiteri E, Riggs AD, Marahrens Y. High concentrations of long interspersed nuclear element sequence distinguish monoallelically expressed genes. Proceedings of the National Academy of Sciences of the United States of America. 100: 9940-5. PMID 12909712 DOI: 10.1073/Pnas.1737401100 |
0.326 |
|
2003 |
Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA, Williams KM, Minoshima S, Sasaki T, Shimizu N, Potocki L, Pulijaal V, Shanske A, Shaffer LG, Morrow BE. Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Human Molecular Genetics. 12: 1823-37. PMID 12874103 DOI: 10.1093/Hmg/Ddg203 |
0.639 |
|
2001 |
Edelmann L, Stankiewicz P, Spiteri E, Pandita RK, Shaffer L, Lupski J, Morrow BE. Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus Genome Research. 11: 208-217. PMID 11157784 DOI: 10.1101/Gr.Gr-1431R |
0.682 |
|
2000 |
Edelmann L, Spiteri E, Koren K, Pulijaal V, Bialer MG, Shanske A, Goldberg R, Morrow BE. AT-rich palindromes mediate the constitutional t(11;22) translocation. American Journal of Human Genetics. 68: 1-13. PMID 11095996 DOI: 10.1086/316952 |
0.784 |
|
1999 |
Edelmann L, Spiteri E, McCain N, Goldberg R, Pandita RK, Duong S, Fox J, Blumenthal D, Lalani SR, Shaffer LG, Morrow BE. A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation. American Journal of Human Genetics. 65: 1608-16. PMID 10577914 DOI: 10.1086/302689 |
0.784 |
|
1999 |
Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, Chaganti RSK, Magenis E, Shprintzen RJ, Morrow BE. A common molecular basis for rearrangement disorders on chromosome 22q11 Human Molecular Genetics. 8: 1157-1167. PMID 10369860 DOI: 10.1093/Hmg/8.7.1157 |
0.757 |
|
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