M
Mary Kay McCormick
Researcher at Harvard University
Publications - 8
Citations - 215
Mary Kay McCormick is an academic researcher from Harvard University. The author has contributed to research in topics: Gene & Contig. The author has an hindex of 7, co-authored 8 publications receiving 214 citations.
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Journal ArticleDOI
Fine Localization of the Torsion Dystonia Gene (DYT1) on Human Chromosome 9q34: YAC Map and Linkage Disequilibrium
Laurie J. Ozelius,Jeffrey W. Hewett,Patricia L. Kramer,Susan B. Bressman,Christo Shalish,Deborah de Leon,M. Rutter,Neil Risch,Mitchell F. Brin,Markova Ed,Svetlana A. Limborska,Irina A. Ivanova-Smolenskaya,Mary Kay McCormick,Stanley Fahn,Alan Buckler,James F. Gusella,Xandra O. Breakefield +16 more
TL;DR: The location of the DYT1 gene has been refined within this contig using several new polymorphic loci to expand the linkage disequilibrium analysis of the AJ founder mutation.
Journal Article
Fine mapping of the nail-patella syndrome locus at 9q34.
Iain McIntosh,Mark V. Clough,Mark V. Clough,Alejandro A. Schäffer,Erik G. Puffenberger,Erik G. Puffenberger,V K Horton,K Peters,K Peters,Margaret H. Abbott,Margaret H. Abbott,Carmen M. Roig,Carmen M. Roig,S Cutone,Laurie J. Ozelius,David J. Kwiatkowski,Reed E. Pyeritz,Reed E. Pyeritz,L J Brown,Richard M. Pauli,Mary Kay McCormick,Clair A. Francomano +21 more
TL;DR: In this article, the authors presented linkage analysis with 13 polymorphic markers in five families with a total of 69 affected persons and showed tight linkage of NPS and the anonymous markers D9S112 (LOD = 27.0; theta =.00) and D 9S315 (LOD < 0.
Journal ArticleDOI
Characterization of msim, a murine homologue of the Drosophila sim transcription factor.
TL;DR: Using a cross-hybridization approach, a murine homolog of the Drosophila sim gene is isolated, which is designated msim and the characteristics of the msim gene are consistent with its putative function as a transcriptional regulator.
Journal ArticleDOI
Cloning and characterization of a novel human clathrin heavy chain gene (CLTCL).
TL;DR: An exon representing a novel clathrin heavy chain gene (CLTCL) was isolated during gene identification studies and transcription mapping of human chromosome 22 and alternative splicing of an exon was observed near the carboxyl terminus of the predicted gene product.
Journal ArticleDOI
A 500-kilobase region containing the tuberous sclerosis locus (TSC1) in a 1.7-megabase YAC and cosmid contig
Jill R. Murrell,James A. Trofatter,M. Rutter,S. Cutone,Christy J. Stotler,Joni L. Rutter,Kimberly Long,A. Turner,Larry L. Deaven,Alan Buckler,Mary Kay McCormick +10 more
TL;DR: A complete overlapping clone map of a 1.7-Mb region from DBH to D9S67 that includes the TSC1 candidate region has been constructed and the overall physical length is significantly less than expected compared to its estimated genetic length.