| Year |
Citation |
Score |
| 2023 |
Yilmaz F, Gurusamy U, Mosley TJ, Hallast P, Kim K, Mostovoy Y, Purcell RH, Shaikh TH, Zwick ME, Kwok PY, Lee C, Mulle JG. High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing. Genome Medicine. 15: 35. PMID 37165454 DOI: 10.1186/s13073-023-01184-5 |
0.432 |
|
| 2021 |
Vervoort L, Dierckxsens N, Pereboom Z, Capozzi O, Rocchi M, Shaikh TH, Vermeesch JR. 22q11.2 Low Copy Repeats Expanded in the Human Lineage. Frontiers in Genetics. 12: 706641. PMID 34335701 DOI: 10.3389/fgene.2021.706641 |
0.436 |
|
| 2021 |
Mostovoy Y, Yilmaz F, Chow SK, Chu C, Lin C, Geiger EA, Meeks NJL, Chatfield KC, Coughlin CR, Surti U, Kwok PY, Shaikh TH. Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation. Genetics. 217. PMID 33724415 DOI: 10.1093/genetics/iyaa038 |
0.371 |
|
| 2019 |
Demaerel W, Mostovoy Y, Yilmaz F, Vervoort L, Pastor S, Hestand MS, Swillen A, Vergaelen E, Geiger EA, Coughlin CR, Chow SK, McDonald-McGinn D, Morrow B, Kwok PY, Xiao M, ... ... Shaikh TH, et al. The 22q11 low copy repeats are characterized by unprecedented size and structural variability. Genome Research. 29: 1389-1401. PMID 31481461 DOI: 10.1101/Gr.248682.119 |
0.562 |
|
| 2018 |
Hu T, Kruszka P, Martinez AF, Ming JE, Shabason EK, Raam MS, Shaikh TH, Pineda-Alvarez DE, Muenke M. Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 178: 175-186. PMID 30182442 DOI: 10.1002/ajmg.c.31622 |
0.381 |
|
| 2015 |
Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, ... ... Shaikh TH, et al. Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. American Journal of Human Genetics. 96: 753-64. PMID 25892112 DOI: 10.1016/J.Ajhg.2015.03.007 |
0.466 |
|
| 2013 |
Delio M, Pope K, Wang T, Samanich J, Haldeman-Englert CR, Kaplan P, Shaikh TH, Cai J, Marion RW, Morrow BE, Babcock M. Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome American Journal of Medical Genetics, Part A. 161: 527-533. PMID 23401415 DOI: 10.1002/Ajmg.A.35784 |
0.319 |
|
| 2012 |
Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, et al. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Human Mutation. 33: 165-79. PMID 21948486 DOI: 10.1002/Humu.21614 |
0.408 |
|
| 2010 |
Gajecka M, Saitta SC, Gentles AJ, Campbell L, Ciprero K, Geiger E, Catherwood A, Rosenfeld JA, Shaikh T, Shaffer LG. Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints. American Journal of Medical Genetics. Part A. 152: 3074-83. PMID 21108392 DOI: 10.1002/Ajmg.A.33733 |
0.454 |
|
| 2010 |
Sheridan MB, Kato T, Haldeman-Englert C, Jalali GR, Milunsky JM, Zou Y, Klaes R, Gimelli G, Gimelli S, Gemmill RM, Drabkin HA, Hacker AM, Brown J, Tomkins D, Shaikh TH, et al. A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: The t(8;22)(q24.13;q11.21) American Journal of Human Genetics. 87: 209-218. PMID 20673865 DOI: 10.1016/j.ajhg.2010.07.002 |
0.552 |
|
| 2010 |
Haldeman-Englert CR, Chapman KA, Kruger H, Geiger EA, McDonald-McGinn DM, Rappaport E, Zackai EH, Spinner NB, Shaikh TH. A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21. American Journal of Medical Genetics. Part A. 152: 196-202. PMID 20034085 DOI: 10.1002/ajmg.a.33176 |
0.352 |
|
| 2010 |
Foley AR, Hu Y, Zou Y, Yang M, Medne L, Leach M, Conlin L, Spinner N, Shaikh T, Neumeyer AM, Bliss L, Winder T, Bönnemann CG. P1.11 Large genomic deletions as a novel type of mutation in Ullrich CMD Neuromuscular Disorders. 20: 602-603. DOI: 10.1016/J.Nmd.2010.07.026 |
0.368 |
|
| 2009 |
Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, et al. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Research. 19: 1682-90. PMID 19592680 DOI: 10.1101/Gr.083501.108 |
0.302 |
|
| 2009 |
Diskin SJ, Hou C, Glessner JT, Attiyeh EF, Laudenslager M, Bosse K, Cole K, Mossé YP, Wood A, Lynch JE, Pecor K, Diamond M, Winter C, Wang K, Kim C, ... ... Shaikh TH, et al. Copy number variation at 1q21.1 associated with neuroblastoma. Nature. 459: 987-91. PMID 19536264 DOI: 10.1038/Nature08035 |
0.36 |
|
| 2009 |
Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, ... ... Shaikh TH, et al. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. American Journal of Human Genetics. 84: 780-91. PMID 19500772 DOI: 10.1016/J.Ajhg.2009.05.005 |
0.351 |
|
| 2009 |
Jackson EM, Sievert AJ, Gai X, Hakonarson H, Judkins AR, Tooke L, Perin JC, Xie H, Shaikh TH, Biegel JA. Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 15: 1923-30. PMID 19276269 DOI: 10.1158/1078-0432.Ccr-08-2091 |
0.328 |
|
| 2009 |
Coppinger J, McDonald-McGinn D, Zackai E, Shane K, Atkin JF, Asamoah A, Leland R, Weaver DD, Lansky-Shafer S, Schmidt K, Feldman H, Cohen W, Phalin J, Powell B, Ballif BC, ... ... Shaikh TH, et al. Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. Human Molecular Genetics. 18: 1377-83. PMID 19193630 DOI: 10.1093/Hmg/Ddp042 |
0.313 |
|
| 2009 |
Kamath BM, Thiel BD, Gai X, Conlin LK, Munoz PS, Glessner J, Clark D, Warthen DM, Shaikh TH, Mihci E, Piccoli DA, Grant SF, Hakonarson H, Krantz ID, Spinner NB. SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. Human Mutation. 30: 371-8. PMID 19058200 DOI: 10.1002/Humu.20863 |
0.385 |
|
| 2009 |
Sievert AJ, Jackson EM, Gai X, Hakonarson H, Judkins AR, Resnick AC, Sutton LN, Storm PB, Shaikh TH, Biegel JA. Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene. Brain Pathology (Zurich, Switzerland). 19: 449-58. PMID 19016743 DOI: 10.1111/J.1750-3639.2008.00225.X |
0.364 |
|
| 2009 |
Inagaki H, Ohye T, Kogo H, Kato T, Bolor H, Taniguchi M, Shaikh TH, Emanuel BS, Kurahashi H. Chromosomal instability mediated by non-B DNA: Cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans Genome Research. 19: 191-198. PMID 18997000 DOI: 10.1101/gr.079244.108 |
0.553 |
|
| 2008 |
Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, Galver L, Barrett JC, Grant SF, Farlow DN, Chandrupatla HR, Hansen M, Ajmal S, Papanicolaou GJ, Guo Y, ... ... Shaikh T, et al. Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. Plos One. 3: e3583. PMID 18974833 DOI: 10.1371/Journal.Pone.0003583 |
0.35 |
|
| 2008 |
Jalali GR, Vorstman JAS, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS. Detailed analysis of 22q11.2 with a high density MLPA probe set Human Mutation. 29: 433-440. PMID 18033723 DOI: 10.1002/Humu.20640 |
0.608 |
|
| 2007 |
Shaikh TH. Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 617-25. PMID 17873650 DOI: 10.1097/GIM.0b013e318148bb81 |
0.316 |
|
| 2007 |
Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 607-16. PMID 17873649 DOI: 10.1097/Gim.0B013E3181484B49 |
0.405 |
|
| 2007 |
Shaikh TH, O'Connor RJ, Pierpont ME, McGrath J, Hacker AM, Nimmakayalu M, Geiger E, Emanuel BS, Saitta SC. Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms Genome Research. 17: 482-491. PMID 17351135 DOI: 10.1101/gr.5986507 |
0.6 |
|
| 2006 |
Ming JE, Geiger E, James AC, Ciprero KL, Nimmakayalu M, Zhang Y, Huang A, Vaddi M, Rappaport E, Zackai EH, Shaikh TH. Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays. Human Mutation. 27: 467-73. PMID 16619270 DOI: 10.1002/humu.20322 |
0.342 |
|
| 2005 |
Inagaki H, Ohye T, Kogo H, Yamada K, Kowa H, Shaikh TH, Emanuel BS, Kurahashi H. Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates Human Mutation. 26: 332-342. PMID 16116616 DOI: 10.1002/humu.20228 |
0.632 |
|
| 2005 |
Morrissette JJ, Medne L, Bentley T, Owens NL, Geiger E, Pipan M, Zackai EH, Shaikh T, Spinner NB. A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage. American Journal of Medical Genetics. Part A. 137: 208-12. PMID 16082706 DOI: 10.1002/Ajmg.A.30845 |
0.452 |
|
| 2004 |
Gotter AL, Shaikh TH, Budarf ML, Rhodes CH, Emanuel BS. A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2. Human Molecular Genetics. 13: 103-15. PMID 14613967 DOI: 10.1093/hmg/ddh004 |
0.615 |
|
| 2003 |
Nimmakayalu MA, Gotter AL, Shaikh TH, Emanuel BS. A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22) Human Molecular Genetics. 12: 2817-2825. PMID 12952865 DOI: 10.1093/hmg/ddg301 |
0.581 |
|
| 2003 |
Kurahashi H, Shaikh T, Takata M, Toda T, Emanuel BS. The constitutional t(17;22): Another translocation mediated by palindromic AT-rich repeats American Journal of Human Genetics. 72: 733-738. PMID 12557125 DOI: 10.1086/368062 |
0.595 |
|
| 2001 |
Emanuel BS, Shaikh TH. Segmental duplications: an 'expanding' role in genomic instability and disease. Nature Reviews. Genetics. 2: 791-800. PMID 11584295 DOI: 10.1038/35093500 |
0.544 |
|
| 2001 |
Shaikh TH, Kurahashi H, Emanuel BS. Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 3: 6-13. PMID 11339380 |
0.586 |
|
| 2000 |
Alemán C, Roy-Engel AM, Shaikh TH, Deininger PL. Cis-acting influences on Alu RNA levels. Nucleic Acids Research. 28: 4755-61. PMID 11095687 |
0.561 |
|
| 2000 |
Kurahashi H, Shaikh TH, Emanuel BS. Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint. Human Molecular Genetics. 9: 2727-32. PMID 11063731 |
0.55 |
|
| 2000 |
Kurahashi H, Shaikh TH, Zackai EH, Celle L, Driscoll DA, Budarf ML, Emanuel BS. Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22). American Journal of Human Genetics. 67: 763-8. PMID 10903930 DOI: 10.1086/303054 |
0.561 |
|
| 2000 |
Kurahashi H, Shaikh TH, Hu P, Roe BA, Emanuel BS, Budarf ML. Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). Human Molecular Genetics. 9: 1665-70. PMID 10861293 DOI: 10.1093/hmg/9.11.1665 |
0.593 |
|
| 2000 |
Shaikh TH, Kurahashi H, Saitta SC, O'Hare AM, Hu P, Roe BA, Driscoll DA, McDonald-McGinn DM, Zackai EH, Budarf ML, Emanuel BS. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Human Molecular Genetics. 9: 489-501. PMID 10699172 DOI: 10.1093/hmg/9.4.489 |
0.614 |
|
| 1999 |
Shaikh TH, Budarf ML, Celle L, Zackai EH, Emanuel BS. Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families. American Journal of Human Genetics. 65: 1595-607. PMID 10577913 DOI: 10.1086/302666 |
0.552 |
|
| 1999 |
Saitta SC, McGrath JM, Mensch H, Shaikh TH, Zackai EH, Emanuel BS. A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. American Journal of Human Genetics. 65: 562-6. PMID 10417299 DOI: 10.1086/302514 |
0.474 |
|
| 1999 |
Shaikh TH, Gottlieb S, Sellinger B, Chen F, Roe BA, Oakey RJ, Emanuel BS, Budarf ML. Characterization of CDC45L: a gene in the 22q11.2 deletion region expressed during murine and human development. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 10: 322-6. PMID 10051334 DOI: 10.1007/S003359900996 |
0.529 |
|
| 1997 |
Bouyge-Moreau I, Rondeau G, Avet-Loiseau H, André MT, Bézieau S, Chérel M, Saleün S, Cadoret E, Shaikh T, De Angelis MM, Arcot S, Batzer M, Moisan JP, Devilder MC. Construction of a 780-kb PAC, BAC, and cosmid contig encompassing the minimal critical deletion involved in B cell chronic lymphocytic leukemia at 13q14.3 Genomics. 46: 183-190. PMID 9417905 DOI: 10.1006/Geno.1997.5008 |
0.616 |
|
| 1997 |
Shaikh TH, Roy AM, Kim J, Batzer MA, Deininger PL. cDNAs derived from primary and small cytoplasmic Alu (scAlu) transcripts. Journal of Molecular Biology. 271: 222-34. PMID 9268654 DOI: 10.1006/Jmbi.1997.1161 |
0.712 |
|
| 1996 |
Shaikh TH, Deininger PL. The role and amplification of the HS Alu subfamily founder gene. Journal of Molecular Evolution. 42: 15-21. PMID 8576958 DOI: 10.1007/BF00163206 |
0.574 |
|
| 1995 |
Batzer MA, Rubin CM, Hellmann-Blumberg U, Alegria-Hartman M, Leeflang EP, Stern JD, Bazan HA, Shaikh TH, Deininger PL, Schmid CW. Dispersion and insertion polymorphism in two small subfamilies of recently amplified human Alu repeats. Journal of Molecular Biology. 247: 418-27. PMID 7714898 DOI: 10.1006/Jmbi.1994.0150 |
0.727 |
|
| 1995 |
Arcot SS, Shaikh TH, Kim J, Bennett L, Alegria-Hartman M, Nelson DO, Deininger PL, Batzer MA. Sequence diversity and chromosomal distribution of "young" Alu repeats. Gene. 163: 273-8. PMID 7590280 DOI: 10.1016/0378-1119(95)00317-Y |
0.744 |
|
| 1994 |
Batzer MA, Stoneking M, Alegria-Hartman M, Bazan H, Kass DH, Shaikh TH, Novick GE, Ioannou PA, Scheer WD, Herrera RJ, Deininger PL. African origin of human-specific polymorphic Alu insertions Proceedings of the National Academy of Sciences of the United States of America. 91: 12288-12292. PMID 7991620 DOI: 10.1073/Pnas.91.25.12288 |
0.684 |
|
| 1992 |
Batzer MA, Bazan HA, Kim J, Morrow SL, Shaikh TH, Arcot SS, Deininger PL. Large-scale subcloning of bacteriophage lambda ZAP clones. Biotechniques. 12: 370-1. PMID 1533305 |
0.444 |
|
| 1991 |
Batzer MA, Kilroy GE, Richard PE, Shaikh TH, Desselle TD, Hoppens CL, Deininger PL. Structure and variability of recently inserted alu family members Nucleic Acids Research. 19: 698. DOI: 10.1093/nar/19.3.698-b |
0.481 |
|
| 1990 |
Batzer MA, Kilroy GE, Richard PE, Shaikh TH, Desselle TD, Hoppens CL, Deininger PL. Structure and variability of recently inserted Alu family members. Nucleic Acids Research. 18: 6793-8. PMID 2175877 DOI: 10.1093/Nar/18.23.6793 |
0.664 |
|
| Show low-probability matches. |