Heather McDermid - Publications

Affiliations: 
Biological Sciences University of Alberta, Edmonton, Alberta, Canada 
Area:
Molecular Biology, Genetics, Evolution and Development Biology

60 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2015 Phelan K, Boccuto L, Rogers RC, Sarasua SM, McDermid HE. Letter to the editor regarding Disciglio et al.: Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome American Journal of Medical Genetics, Part A. 167: 1679-1680. DOI: 10.1002/ajmg.a.36788  0.92
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  0.92
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  0.92
2012 Phelan K, McDermid HE. The 22q13.3 deletion syndrome (Phelan-McDermid syndrome) Molecular Syndromology. 2: 186-201. DOI: 10.1159/000334260  0.92
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  0.92
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  0.92
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  0.92
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 = GéNome / Conseil National De Recherches Canada. 50: 767-77. PMID 17893736 DOI: 10.1139/g07-050  0.92
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  0.92
2006 Babineau T, Wilson HL, Dawson AJ, Chodirker BN, Der Kaloustian VM, Demczuk S, McDermid HE. Unusual dicentric chromosome 22 associated with a 22q13 deletion. American Journal of Medical Genetics. Part A. 140: 2819-23. PMID 17103441 DOI: 10.1002/ajmg.a.31500  0.92
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  0.92
2005 Maier SA, Galellis JR, McDermid HE. Phylogenetic analysis reveals a novel protein family closely related to adenosine deaminase. Journal of Molecular Evolution. 61: 776-94. PMID 16245011 DOI: 10.1007/s00239-005-0046-y  0.92
2005 Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, MacKenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, ... ... McDermid HE, et al. Microduplication and triplication of 22q11.2: A highly variable syndrome American Journal of Human Genetics. 76: 865-876. PMID 15800846 DOI: 10.1086/429841  0.92
2005 Locke J, McDermid HE. Using pool noodles to teach mitosis and meiosis. Genetics. 170: 5-6. PMID 15781711 DOI: 10.1534/genetics.104.032060  0.92
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  0.92
2003 Hu S, Labuda MZ, Pandolfo M, Goss GG, McDermid HE, Ali DW. Variants of the KCNMB3 regulatory subunit of maxi BK channels affect channel inactivation. Physiological Genomics. 15: 191-8. PMID 14612589 DOI: 10.1152/physiolgenomics.00110.2003  0.92
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  0.92
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  0.92
2002 McDermid HE, Morrow BE. Genomic disorders on 22q11. American Journal of Human Genetics. 70: 1077-88. PMID 11925570 DOI: 10.1086/340363  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
1999 Frizzley JK, Stephan MJ, Lamb AN, Jonas PP, Hinson RM, Moffitt DR, Shkolny DL, McDermid HE. Ring 22 duplication/deletion mosaicism: clinical, cytogenetic, and molecular characterisation. Journal of Medical Genetics. 36: 237-41. PMID 10204853  0.92
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  0.92
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  0.92
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  0.92
1997 Doheny KF, McDermid HE, Harum K, Thomas GH, Raymond GV. Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients Journal of Medical Genetics. 34: 640-644. PMID 9279755  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
1995 Flint J, Wilkie AOM, Buckle VJ, Winter RM, Holland AJ, McDermid HE. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation Nature Genetics. 9: 132-140. PMID 7719339 DOI: 10.1038/ng0295-132  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
1993 Locke J, McDermid HE. Analysis of Drosophila chromosome 4 using pulsed field gel electrophoresis Chromosoma. 102: 718-723. PMID 8149812 DOI: 10.1007/BF00650898  0.92
1993 McDermid HE, Budarf ML, Emanuel BS. Long-range restriction map of human chromosome 22q11-22q12 between the lambda immunoglobulin locus and the Ewing sarcoma breakpoint Genomics. 18: 308-318. PMID 7507075 DOI: 10.1006/geno.1993.1470  0.92
1992 Phelan MC, Thomas GR, Saul RA, Rogers RC, Taylor HA, Wenger DA, McDermid HE. Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion. American Journal of Medical Genetics. 43: 872-6. PMID 1353666 DOI: 10.1002/ajmg.1320430524  0.92
1991 Dumanski JP, Carlbom E, Collins VP, Nordenskjöld M, Emanuel BS, Budarf ML, McDermid HE, Wolff R, O'Connell P, White R. A map of 22 loci on human chromosome 22. Genomics. 11: 709-19. PMID 1774071 DOI: 10.1016/0888-7543(91)90079-T  0.92
1991 Budarf ML, McDermid HE, Sellinger B, Emanuel BS. Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22 Genomics. 10: 996-1002. PMID 1680800 DOI: 10.1016/0888-7543(91)90190-P  0.92
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  0.92
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  0.92
1989 Spinner NB, Eunpu DL, Schmickel RD, Zackai EH, McEldrew D, Bunin GR, McDermid H, Emanuel BS. The role of cytologic NOR variants in the etiology of trisomy 21 American Journal of Human Genetics. 44: 631-638. PMID 2523191  0.92
1988 Magenis RE, Sheehy RR, Brown MG, McDermid HE, White BN, Zonana J, Weleber R. Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis. American Journal of Medical Genetics. 29: 9-19. PMID 3344779 DOI: 10.1002/ajmg.1320290103  0.92
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  0.92
1987 McDermid HE, Goodfellow PJ, Duncan AM, Brasch KR, Simpson NE, Souza CD, Holden JJ, White BN. A polymorphic locus, D10S5, at 10q21.1. Nucleic Acids Research. 15: 5498. PMID 2885808 DOI: 10.1093/nar/15.13.5498  0.92
1986 McDermid HE, Duncan AMV, Brasch KR, Holden JJA, Magenis E, Sheehy R, Burn J, Kardon N, Noel B, Schinzel A, Teshima I, White BN. Characterization of the supernumerary chromosome in cat eye syndrome Science. 232: 646-648. PMID 3961499  0.92
1986 McDermid HE, Duncan AM, Higgins MJ, Hamerton JL, Rector E, Brasch KR, White BN. Isolation and characterization of an alpha-satellite repeated sequence from human chromosome 22. Chromosoma. 94: 228-34. PMID 3769652 DOI: 10.1007/BF00288497  0.92
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  0.92
1982 Locke J, McDermid H, Brac T, Atkinson BG. Developmental changes in the synthesis of haemolymph polypeptides and their sequestration by the prepupal fat body in Calpodes ethlius stöll (Lepidoptera:Hesperiidae) Insect Biochemistry. 12: 431-440. DOI: 10.1016/0020-1790(82)90042-7  0.92
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