My research interests revolve around the interface of psychiatry, neurology, and genetics. A major focus is on the etiology, pathogenesis, and psychiatric aspects of neurodegenerative disorders affecting the cerebellum and basal ganglia, including Huntington’s disease, Huntington’s disease-like 2 (discovered by our group), and the cerebellar ataxias. A second emphasis is on the genetic etiology and pathogenesis of schizophrenia, including the role of rare mutations of major effect, the potential utility of induced pluripotent stem cells as disease models, and novel approaches to mutation detection. We are particularly interested in the etiologic and pathogenic properties of unstable DNA, RNA toxicity, and bidirectional transcription. My clinical interests include schizophrenia, affective disorders, and neuropsychiatry.
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- Holmes SE, O''Hearn E, McInnis MG, Kwak NG, Gorelick-Feldman DA, Kleiderlein JK, Callahan C, Sherr M, Sharp AH, Sumner AJ, Ashworth RG, Ananth U, Seltzer W, Vieria-Saecker AM, Epplen JT, Reiss O, Ross CA, Margolis RL. Expansion of a novel CAG trinucleotide repeat in the 5'' region of PPP2R2B is associated with SCA12, Nature Genetics, 23 (1999): 391-392.
- Margolis RL, OHearn E, Rosenblatt A, Willour V, Holmes SE, Franz ML, Callahan C, Hwang HS, Troncoso JC, Ross CA. A disorder similar to Huntingtons disease is associated with a novel CAG repeat expansion. Annals of Neurology, 50 (2001):373-380.
- Holmes SE, OHearn E, Callahan C, Hwang HS, Rosenblatt A, Ingersoll-Ashworth RG, Fleisher A, Stevanin G, Brice A, Potter NT, Ross CA, Margolis RL. A CTG trinucleotide repeat expansion in Junctophilin 3 is associated with Huntington''s Disease-Like 2 (HDL2). Nature Genetics, 29 (2001): 377-378.
- Margolis RL, Holmes SE, Rosenblatt A, Gourley L, OHearn E, Ross CA, Seltzer WK, Walker RH, Ashizawa T, Rasmussen A, Hayden M, Almqvist EW, Harris J, Fahn S, Macdonald ME, Mysore J, Shimohata T, Tsuji S, Potter N, Nakaso K, Adachi Y, Nakashima K, Bird T, Krause A, Greenstein P. Huntingtons disease-like 2 (HDL2) in North America and Japan. Annals of Neurology, 56(2004):670-674
- Sachs NA, Sawa A, Holmes SE, Ross CA, DeLisi LE, Margolis RL. A frameshift mutation in Disrupted in Schizophrenia 1 segregates with schizophrenia and schizoaffective disorder in an American family. Molecular Psychiatry 10(2005) 758-64
- Rudnicki DD, Holmes SE, Lin M, Thorton CA, Ross CA, Margolis RL. Huntingtons disease-like 2 is associated with CUG repeat containing RNA foci. Annals of Neurology, 61 (2007):272-82.
- Rudnicki DD, Pletnikova O, Vansattel JP, Ross CA, Margolis RL. A comparison of Huntingtons disease and Huntingtons disease-like 2 neuropathology. Journal of Neuropathology and Experimental Neurology, 67(2008):366-74
- Bruce HA, Sachs NA, Rudnicki DD, Lin SG, Willour VL, Cowell JK, Conroy J, McQuaid D, Rossi M, Gaile DP, Nowak NJ, Holmes SE, Sklar P, Ross CA, DeLisi LE, Margolis RL. Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations. Psychiatric Genetics, in press.
- Ross CA, Margolis RL, Reading SAJ, Pletnikov M, Coyle JT. Neurobiology of Schizophrenia, Neuron, 52 (2006):139-53
- Margolis, RL. The choice of antipsychotics in schizophrenia. Nature Neurology Reveiws, in press.
- Ross CA, Margolis RL. DISC1 and GSK3beta: New Pathways and Novel Therapeutic Targets for Schizophrenia and Bipolar Disorder, Nature News and Views, in press