Joseph D. Buxbaum

Professor of Psychiatry, Neuroscience, Genetics and Genomic Sciences, PhD
Department of Psychiatry
Mount Sinai School of Medicine
E-mail: joseph.buxbaum@mssm.edu
Page: http://www.mssm.edu/profiles/joseph-d-buxbaum

 

Fields of interest:

Human psychiatric and neurological diseases (autism, schizophrenia and Alzheimer's disease)

 

 

Recent publications:

Beecham G. W., Naj A. C., Gilbert J. R., Haines J. L., Buxbaum J. D., Pericak-Vance M. A.:

PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility

Psychiatr. Genet. 2010; 20(6): 321-324.

 

Glessner J. T., Bradfield J. P., Wang K., Takahashi N., Zhang H., Sleiman P. M., Mentch F. D., Kim C. E., Hou C., Thomas K. A., Garris M. L., Deliard S., Frackelton E. C., Otieno F. G., Zhao J., Chiavacci R. M., Li M., Buxbaum J. D., Berkowitz R. I., Hakonarson H., Grant S. F.:

A Genome-wide Study Reveals Copy Number Variants Exclusive to Childhood Obesity Cases

Am. J. Hum. Genet. 2010; 87(5): 661-666.

 

Naj A. C., Beecham G. W., Martin E. R., Gallins P. J., Powell E. H., Konidari I., Whitehead P. L., Cai G., Haroutunian V., Scott W. K., Vance J. M., Slifer M. A., Gwirtsman H. E., Gilbert J. R., Haines J. L., Buxbaum J. D., Pericak-Vance M. A.:

Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities

PLoS Genet. 2010; 6(9).

 

Glessner J. T., Reilly M. P., Kim C. E., Takahashi N., Albano A., Hou C., Bradfield J. P., Zhang H., Sleiman P. M., Flory J. H., Imielinski M., Frackelton E. C., Chiavacci R., Thomas K. A., Garris M., Otieno F. G., Davidson M., Weiser M., Reichenberg A., Davis K. L., Friedman J. I., Cappola T. P., Margulies K. B., Rader D. J., Grant S. F., Buxbaum J. D., Gur R. E., Hakonarson H.:

Strong synaptic transmission impact by copy number variations in schizophrenia

Proc. Natl. Acad. Sci. U S A 2010; 107(23): 10584-10589.

 

Sakurai T., Ramoz N., Barreto M., Gazdoiu M., Takahashi N., Gertner M., Dorr N., Gama Sosa M. A., De Gasperi R., Perez G., Schmeidler J., Mitropoulou V., Le H. C., Lupu M., Hof P. R., Elder G. A., Buxbaum J. D.:

Slc25a12 disruption alters myelination and neurofilaments: a model for a hypomyelination syndrome and childhood neurodevelopmental disorders

Biol. Psychiatry 2010; 67(9): 887-894.

 

Buxbaum J. D., Baron-Cohen S., Devlin B.:

Genetics in psychiatry: common variant association studies

Mol. Autism 2010; 1(1): 6.

 

McInnes L. A., Nakamine A., Pilorge M., Brandt T., Jimenez Gonzalez P., Fallas M., Manghi E. R., Edelmann L., Glessner J., Hakonarson H., Betancur C., Buxbaum J. D.:

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region

Mol. Autism 2010; 1(1): 5.

 

Buxbaum J. D., Baron-Cohen S.:

Molecular Autism: accelerating and integrating research into neurodevelopmental conditions

Mol. Autism 2010; 1(1): 1.

 

Li X., Patel J. C., Wang J., Avshalumov M. V., Nicholson C., Buxbaum J. D., Elder G. A., Rice M. E., Yue Z.:

Enhanced striatal dopamine transmission and motor performance with LRRK2 overexpression in mice is eliminated by familial Parkinson's disease mutation G2019S

J. Neurosci. 2010; 30(5): 1788-1797.

 

Kajiwara Y., Franciosi S., Takahashi N., Krug L., Schmeidler J., Taddei K., Haroutunian V., Fried U., Ehrlich M., Martins R. N., Gandy S., Buxbaum J. D.:

Extensive proteomic screening identifies the obesity-related NYGGF4 protein as a novel LRP1-interactor, showing reduced expression in early Alzheimer's disease

Mol. Neurodegener. 2010; 5: 1.