T
T. C. Gilliam
Researcher at Columbia University
Publications - 31
Citations - 2983
T. C. Gilliam is an academic researcher from Columbia University. The author has contributed to research in topics: SMA* & Locus (genetics). The author has an hindex of 21, co-authored 31 publications receiving 2917 citations. Previous affiliations of T. C. Gilliam include University of Chicago & University of York.
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Journal ArticleDOI
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3
Linda M. Brzustowicz,Linda M. Brzustowicz,Thomas Lehner,Thomas Lehner,Lucio H. Castilla,Lucio H. Castilla,Penchaszadeh Gk,Penchaszadeh Gk,Kirk C. Wilhelmsen,Kirk C. Wilhelmsen,Rachael J. Daniels,Kay E. Davies,Mark Leppert,F. Ziter,D. Wood,Victor Dubowitz,Klaus Zerres,I. Hausmanowa-Petrusewicz,Jurg Ott,Jurg Ott,Theodore L. Munsat,T. C. Gilliam,T. C. Gilliam +22 more
TL;DR: Analysis of 13 clinically heterogeneous SMA families finds that 'chronic' childhood-onset SMA (including intermediate SMA or SMA type II, and KugelbergWelander or S MA type III) is genetically homogeneous, mapping to chromosomal region 5ql 1.3.
Journal ArticleDOI
Differential SMN2 expression associated with SMA severity
TL;DR: There is the first evidence that SMN2 may influence SMA disease severity through preferential expression of an alternative transcript in the more severe phenotypes, and no significant difference in the amount of full-length transcript produced among the three SMA subtypes.
Journal ArticleDOI
Genetic homogeneity between acute and chronic forms of spinal muscular atrophy.
T. C. Gilliam,Linda M. Brzustowicz,Lucio H. Castilla,Thomas Lehner,Penchaszadeh Gk,Rachael J. Daniels,B C Byth,J Knowles,J E Hislop,Y Shapira +9 more
TL;DR: In this paper, the acute SMA locus was mapped to chromosome 5q11.2-13.3 and the chronic SMA (SMA Type I/Werdnig-Hoffmann/severe/infantile) to a single locus on 5q.
Journal ArticleDOI
Linkage analysis of psychosis in bipolar pedigrees suggests novel putative loci for bipolar disorder and shared susceptibility with schizophrenia.
Naeun Park,S H Juo,R Cheng,Jianjun Liu,J E Loth,B Lilliston,J Nee,Adina Grunn,Kyra Kanyas,B. Lerer,Jean Endicott,T. C. Gilliam,Miron Baron +12 more
TL;DR: The results suggest that BP in conjunction with psychosis is a potentially useful phenotype that may expedite the detection of susceptibility loci for BP and cast light on the genetic relationship between BP and schizophrenia.
Journal ArticleDOI
Null Mutation of the Murine ATP7B (Wilson Disease) Gene Results in Intracellular Copper Accumulation and Late-Onset Hepatic Nodular Transformation
O. I. Buiakova,Jin Xu,Svetlana Lutsenko,Scott Zeitlin,Kamna Das,S. Das,Barbara Ross,C. Mekios,I. H. Scheinberg,T. C. Gilliam +9 more
TL;DR: Inactivation of the murine ATP7B gene produces a form of cirrhotic liver disease that resembles Wilson disease in humans and the 'toxic milk' phenotype in the mouse.