| Year |
Citation |
Score |
| 2021 |
Norton KA, Humphreys R, Weatherill C, Duong K, Nguyen VV, Kommadath A, Niri F, Stothard P, McDermid HE. Subfertility in young male mice mutant for chromatin remodeler CECR2. Reproduction (Cambridge, England). PMID 34904570 DOI: 10.1530/REP-19-0507 |
0.462 |
|
| 2021 |
Niri F, Terpstra A, Lim KRQ, McDermid H. Chromatin remodeling factor CECR2 forms tissue-specific complexes with CCAR2 and LUZP1. Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire. PMID 34197713 DOI: 10.1139/bcb-2021-0019 |
0.364 |
|
| 2021 |
Dicipulo R, Norton KA, Fairbridge NA, Kibalnyk Y, Fox SC, Hornberger LK, McDermid HE. Cecr2 mutant mice as a model for human cat eye syndrome. Scientific Reports. 11: 3111. PMID 33542446 DOI: 10.1038/s41598-021-82556-y |
0.695 |
|
| 2016 |
Leduc RY, Singh P, McDermid HE. Genetic backgrounds and modifier genes of NTD mouse models: An opportunity for greater understanding of the multifactorial etiology of neural tube defects. Birth Defects Research. Part a, Clinical and Molecular Teratology. PMID 27768235 DOI: 10.1002/bdra.23554 |
0.497 |
|
| 2012 |
Thompson PJ, Norton KA, Niri FH, Dawe CE, McDermid HE. CECR2 is involved in spermatogenesis and forms a complex with SNF2H in the testis. Journal of Molecular Biology. 415: 793-806. PMID 22154806 DOI: 10.1016/j.jmb.2011.11.041 |
0.37 |
|
| 2012 |
Kooistra MK, Leduc RY, Dawe CE, Fairbridge NA, Rasmussen J, Man JH, Bujold M, Juriloff D, King-Jones K, McDermid HE. Strain-specific modifier genes of Cecr2-associated exencephaly in mice: genetic analysis and identification of differentially expressed candidate genes. Physiological Genomics. 44: 35-46. PMID 22045912 DOI: 10.1152/Physiolgenomics.00124.2011 |
0.721 |
|
| 2012 |
Phelan K, McDermid HE. The 22q13.3 deletion syndrome (Phelan-McDermid syndrome) Molecular Syndromology. 2: 186-201. DOI: 10.1159/000334260 |
0.325 |
|
| 2011 |
Dawe CE, Kooistra MK, Fairbridge NA, Pisio AC, McDermid HE. Role of chromatin remodeling gene Cecr2 in neurulation and inner ear development. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 240: 372-83. PMID 21246654 DOI: 10.1002/Dvdy.22547 |
0.698 |
|
| 2010 |
Fairbridge NA, Dawe CE, Niri FH, Kooistra MK, King-Jones K, McDermid HE. Cecr2 mutations causing exencephaly trigger misregulation of mesenchymal/ectodermal transcription factors. Birth Defects Research. Part a, Clinical and Molecular Teratology. 88: 619-25. PMID 20589882 DOI: 10.1002/Bdra.20695 |
0.702 |
|
| 2008 |
Wilson HL, Crolla JA, Walker D, Artifoni L, Dallapiccola B, Takano T, Vasudevan P, Huang S, Maloney V, Yobb T, Quarrell O, McDermid HE. Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development. European Journal of Human Genetics : Ejhg. 16: 1301-10. PMID 18523453 DOI: 10.1038/ejhg.2008.107 |
0.325 |
|
| 2007 |
Keuling A, Yang F, Hanna S, Wang H, Tully T, Burnham A, Locke J, McDermid HE. Mutation analysis of Drosophila dikar/CG32394, homologue of the chromatin-remodelling gene CECR2. Genome / National Research Council Canada = Gã©Nome / Conseil National De Recherches Canada. 50: 767-77. PMID 17893736 DOI: 10.1139/g07-050 |
0.457 |
|
| 2007 |
Davidson CE, Li Q, Churchill GA, Osborne LR, McDermid HE. Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans Physiological Genomics. 31: 244-251. PMID 17623803 DOI: 10.1152/Physiolgenomics.00062.2007 |
0.548 |
|
| 2006 |
McDermid HE, Wevrick R. Inv dup(15) and inv dup(22) Genomic Disorders: the Genomic Basis of Disease. 315-325. DOI: 10.1007/978-1-59745-039-3_22 |
0.375 |
|
| 2005 |
Banting GS, Barak O, Ames TM, Burnham AC, Kardel MD, Cooch NS, Davidson CE, Godbout R, McDermid HE, Shiekhattar R. CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L. Human Molecular Genetics. 14: 513-24. PMID 15640247 DOI: 10.1093/Hmg/Ddi048 |
0.696 |
|
| 2003 |
Wilson HL, Wong ACC, Shaw SR, Tse WY, Stapleton GA, Phelan MC, Hu S, Marshall J, McDermid HE. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms Journal of Medical Genetics. 40: 575-584. PMID 12920066 |
0.325 |
|
| 2003 |
Bridgland L, Footz TK, Kardel MD, Riazi MA, McDermid HE. Three duplicons form a novel chimeric transcription unit in the pericentromeric region of chromosome 22q11. Human Genetics. 112: 57-61. PMID 12483300 DOI: 10.1007/s00439-002-0827-y |
0.445 |
|
| 2002 |
McDermid HE, Morrow BE. Genomic disorders on 22q11. American Journal of Human Genetics. 70: 1077-88. PMID 11925570 DOI: 10.1086/340363 |
0.377 |
|
| 2001 |
Maier SA, Podemski L, Graham SW, McDermid HE, Locke J. Characterization of the adenosine deaminase-related growth factor (ADGF) gene family in Drosophila. Gene. 280: 27-36. PMID 11738815 DOI: 10.1016/S0378-1119(01)00762-4 |
0.391 |
|
| 2001 |
Phelan MC, Curtis Rogers R, Saul RA, Stapleton GA, Sweet K, McDermid H, Shaw SR, Claytor J, Willis J, Kelly DP. Research review: 22q13 deletion syndrome American Journal of Medical Genetics. 101: 91-99. PMID 11391650 DOI: 10.1002/1096-8628(20010615)101:2<91::Aid-Ajmg1340>3.0.Co;2-C |
0.417 |
|
| 2001 |
Footz TK, Brinkman-Mills P, Banting GS, Maier SA, Riazi MA, Bridgland L, Hu S, Birren B, Minoshima S, Shimizu N, Pan H, Nguyen T, Fang F, Fu Y, Ray L, ... ... McDermid HE, et al. Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. Genome Research. 11: 1053-70. PMID 11381032 DOI: 10.1101/Gr.154901 |
0.698 |
|
| 2000 |
Riazi MA, Brinkman-Mills P, Nguyen T, Pan H, Phan S, Ying F, Roe BA, Tochigi J, Shimizu Y, Minoshima S, Shimizu N, Buchwald M, McDermid HE. The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome. Genomics. 64: 277-85. PMID 10756095 DOI: 10.1006/Geno.1999.6099 |
0.43 |
|
| 1999 |
Riazi MA, Brinkman-Mills P, Johnson A, Naylor SL, Minoshima S, Shimizu N, Baldini A, McDermid HE. Identification of a putative regulatory subunit of a calcium-activated potassium channel in the dup(3q) syndrome region and a related sequence on 22q11.2. Genomics. 62: 90-4. PMID 10585773 DOI: 10.1006/Geno.1999.5975 |
0.341 |
|
| 1999 |
Ofir R, Wong ACC, Mcdermid HE, Skorecki KL, Selig S. Position effect of human telomeric repeats on replication timing Proceedings of the National Academy of Sciences of the United States of America. 96: 11434-11439. PMID 10500194 DOI: 10.1073/pnas.96.20.11434 |
0.358 |
|
| 1999 |
Trichet V, Shkolny D, Dunham I, Beare D, McDermid HE. Mapping and complex expression pattern of the human NPAP60L nucleoporin gene Cytogenetics and Cell Genetics. 85: 221-226. PMID 10449902 |
0.417 |
|
| 1999 |
Wong ACC, Shkolny D, Dorman A, Willingham D, Roe BA, McDermid HE. Two novel human RAB genes with near identical sequence each map to a telomere-associated region: The subtelomeric region of 22q13.3 and the ancestral telomere band 2q13 Genomics. 59: 326-334. PMID 10444334 DOI: 10.1006/geno.1999.5889 |
0.375 |
|
| 1999 |
Johnson A, Minoshima S, Asakawa S, Shimizu N, Shizuya H, Roe BA, McDermid HE. A 1.5-Mb contig within the cat eye syndrome critical region at human chromosome 22q11.2. Genomics. 57: 306-9. PMID 10198173 DOI: 10.1006/geno.1999.5757 |
0.358 |
|
| 1998 |
McTaggart KE, Budarf ML, Driscoll DA, Emanuel BS, Ferreira P, McDermid HE. Cat eye syndrome chromosome breakpoint clustering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints Cytogenetics and Cell Genetics. 81: 222-228. PMID 9730608 |
0.32 |
|
| 1998 |
Footz TK, Birren B, Minoshima S, Asakawa S, Shimizu N, Riazi MA, McDermid HE. The gene for death agonist BID maps to the region of human 22q11.2 duplicated in cat eye syndrome chromosomes and to mouse chromosome 6. Genomics. 51: 472-5. PMID 9721221 DOI: 10.1006/geno.1998.5392 |
0.395 |
|
| 1997 |
Holmes SE, Riazi MA, Gong W, McDermid HE, Sellinger BT, Hua A, Chen F, Wang Z, Zhang G, Roe B, Gonzalez I, McDonald-McGinn DM, Zackai E, Emanuel BS, Budarf ML. Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation. Human Molecular Genetics. 6: 357-67. PMID 9147638 DOI: 10.1093/Hmg/6.3.357 |
0.415 |
|
| 1997 |
Wong ACC, Ning Y, Flint J, Clark K, Dumanski JP, Ledbetter DH, McDermid HE. Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation American Journal of Human Genetics. 60: 113-120. PMID 8981954 |
0.347 |
|
| 1996 |
McDermid HE, McTaggart KE, Riazi MA, Hudson TJ, Budarf ML, Emanuel BS, Bell CJ. Long-range mapping and construction of a YAC contig within the cat eye syndrome critical region. Genome Research. 6: 1149-59. PMID 8973909 |
0.325 |
|
| 1996 |
Dawson AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H. Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22. Journal of Medical Genetics. 33: 952-6. PMID 8950677 DOI: 10.1136/Jmg.33.11.952 |
0.385 |
|
| 1996 |
Locke J, Rairdan G, McDermid H, Nash D, Pilgrim D, Bell J, Roy K, Hodgetts R. Cross-screening: a new method to assemble clones rapidly and unambiguously into contigs. Genome Research. 6: 155-65. PMID 8919694 DOI: 10.1101/Gr.6.2.155 |
0.331 |
|
| 1996 |
Budarf ML, Eckman B, Michaud D, McDonald T, Gavigan S, Buetow KH, Tatsumura Y, Liu Z, Hilliard C, Driscoll D, Goldmuntz E, Meese E, Zwarthoff EC, Williams S, McDermid H, et al. Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel. Genomics. 35: 275-88. PMID 8661140 DOI: 10.1006/Geno.1996.0358 |
0.373 |
|
| 1995 |
Mears AJ, el-Shanti H, Murray JC, McDermid HE, Patil SR. Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. American Journal of Human Genetics. 57: 667-73. PMID 7668296 |
0.336 |
|
| 1994 |
McDermid HE, Emanuel BS. Mapping of the human lambda immunoglobulin variable gene subgroup 1 Immunogenetics. 40: 177-183. PMID 8039825 DOI: 10.1007/BF00167077 |
0.347 |
|
| 1994 |
Baud V, Mears AJ, Lamour V, Scamps C, Duncan AM, McDermid HE, Lipinski M. The E subunit of vacuolar H(+)-ATPase localizes close to the centromere on human chromosome 22. Human Molecular Genetics. 3: 335-9. PMID 8004105 DOI: 10.1093/hmg/3.2.335 |
0.414 |
|
| 1994 |
Mears AJ, Duncan AMV, Budarf ML, Emanuel BS, Sellinger B, Siegel-Bartelt J, Greenberg CR, McDermid HE. Molecular characterization of the marker chromosome associated with cat eye syndrome American Journal of Human Genetics. 55: 134-142. PMID 7912885 |
0.334 |
|
| 1994 |
Nesslinger NJ, Gorski JL, Kurczynski TW, Shapira SK, Siegel-Bartelt J, Dumanski JP, Cullen RF, French BN, McDermid HE. Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3 American Journal of Human Genetics. 54: 464-472. PMID 7906921 |
0.319 |
|
| 1993 |
Bauer TR, McDermid HE, Budarf ML, Van Keuren ML, Blomberg BB. Physical location of the human immunoglobulin lambda-like genes, 14.1, 16.1, and 16.2 Immunogenetics. 38: 387-399. PMID 8406611 DOI: 10.1007/Bf00184519 |
0.421 |
|
| 1990 |
Fibison WJ, Budarf M, McDermid H, Greenberg F, Emanuel BS. Molecular studies of DiGeorge syndrome American Journal of Human Genetics. 46: 888-895. PMID 2339689 |
0.35 |
|
| 1989 |
McDermid HE, Budarf ML, Emanuel BS. Toward a long-range map of human chromosomal band 22q11 Genomics. 5: 1-8. PMID 2788606 DOI: 10.1016/0888-7543(89)90079-7 |
0.328 |
|
| 1987 |
Simpson NE, Kidd KK, Goodfellow PJ, McDermid H, Myers S, Kidd JR, Jackson CE, Duncan AM, Farrer LA, Brasch K. Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage. Nature. 328: 528-30. PMID 2886918 DOI: 10.1038/328528A0 |
0.301 |
|
| 1986 |
Duncan AM, Hough CA, White BN, McDermid HE. Breakpoint localization of the marker chromosome associated with the cat eye syndrome. American Journal of Human Genetics. 38: 978-80. PMID 3088989 |
0.336 |
|
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