Joseph Buxbaum

Title

Professor

Department

Psychiatry, Neuroscience, and Genetics and Genomic Sciences

Institution

Mindich Child Health and Development Institute at the Icahn School of Medicine at Mount Sinai

joseph.buxbaum@mssm.edu

Education

B.Sc., Touro College
M.Sc, Weizmann Institute of Science
Ph.D., Weizmann Institute of Science

Research Interests

Human Genetics and Genetic Disorders Autism Spectrum Disorder, Autism Spectrum Disorders Sporadic Alzheimer Disease

View all research interests

Biography

Not mentioned yet

Homepages

Contact Information

212-241-0200

Research

Not mentioned yet.

Cloud List

Human Genetics and Genetic Disorders Autism Spectrum Disorder, Autism Spectrum Disorders Sporadic Alzheimer Disease Genetic Variation Genetic Overlap Transgenic Mice Emerging Neuroscience Molecular Biology Demyelination Myelination Signal Transduction Knockout Mice Alzheimer's Disease Protein Structure/Function Microarray Synaptic Plasticity Gene Regulation Synaptogenesis Schizophrenia Synapses Neurobiology Metastasis Insulin Like Growth Factor American Academy United States Obsessive Compulsive Disorder Comparative Trial Tic Disorders Parkinsons Disease, Parkinson Disease Understanding Autism Recent Advances African Americans, African American Gene Expression Patterns Functional Impact Multiple Genetic Loci Human Brain New Beginnings, New Beginning Non Coding Rnas Polygenic Risk First Birth Increased Risk Molecular Genetics Noncoding Variants National Children Adolescent Psychiatry Whole Exome Sequence Data Low Density Lipoprotein Receptor Animal Model, Animal Models Susceptibility Gene, Susceptibility Genes Association Tests Prefrontal Cortex Neurite Outgrowth Childhood Psychiatric Disorders Mouse Models, Mouse Model Acute Myeloid Leukemia Genomic Architecture, Genome Architecture Increasing Prevalence Early Childhood Risk Loci Genetic Discoveries Long Run, Long Runs Genome Wide Association Study High Risk Autism Genes Medical Genetics Human Induced Pluripotent Stem Cells Social Interactions, Social Interaction Critical Role Copy Number Variation, Copy Number Variations Meta Analysis Cellular Pathways Related Dementias Genetic Risk Paternal Age Young Children Frontal Cortex Individual Differences Neuropathologic Features Social Behavior, Social Behaviors Expression Profiling Human Disease, Human Diseases Transcriptomic Changes Cortical Circuits Biological Insights H Cohen Medical Assessment World Trade Center Attacks Mutation Screening Negative Regulators, Negative Regulator Mendelian Disorders Functional Genomics Functional Study, Function Studies Genetic Markers Neurodevelopmental Disabilities Increased Expression Clinical Impact Disease Variants New Model, New Models, New Modeling Retinitis Pigmentosa Rare Variants Common Variants Synaptic Loss Autism Susceptibility Social Communication Neurodevelopmental Conditions Genome Wide Study Copy Number Variants Subsequent Development Critical Region Electrospray Ionization Mass Spectrometry Common Alleles Early Alzheimer Synaptic Function Efficient Identification Genetic Screening Largescale Screen Risk Genes Current Understanding Epigenetic Biomarkers Behavioral Manifestations Atp Binding Cassette Transporter Significant Role Population Control, Population Controls Population Distributions, Population Distribution Impact Lifespan Whole Blood Symptom Improvement Neuropsychiatric Disease Prospective Investigation Developmental Delay Integrated Model, Integrated Modeling, Integrating Models Altered Dna Methylation Network Topologies Cell Lines, Cell Line Risk Factors, Risk Factor Attention Deficit Hyperactivity Disorder Intellectual Disability Progressive Form Candidate Genes Brief Report Lysosomal Dysfunction Generic Class, General Class Early Onset Rare Structural Variation Statistical Approach, Statistic Approach Large Scale, Large Scales Inborn Errors, Inborn Error Genomic Variants High Throughput Sequencing Fine Mapping Converging Evidence, Convergent Evidence Nervous System Normal Development Emerging Role, Emerging Roles Study Point Genome Wide Analyses Genomewide Association Studies Association Scan Posttraumatic Stress Disorder Common Genetic Variants Dietary Composition Amyloid Precursor Protein Related Protein, Related Proteins Macromolecular Complex Blood Vessels Mutation Analysis Genetic Vulnerability Transcriptional Profile, Transcription Profile, Transcriptional Profiling Related Disorders Genetic Architecture Receptor Protein Downstream Regulatory Element Interacting Genes Related Conditions Transcriptional Activity Neuronal Function Molecular Basis High Proportion Multiple Aspects Alzheimer Dementia Long Term Potentiation Associated Disorders Mouse Brain Functional Recovery Tumor Necrosis Factor Neurodegenerative Diseases, Neurodegenerative Disease Rna Profiling Neuropsychiatric Disorders Converting Enzyme Dna Binding Genetic Heterogeneity Physiological Concentrations Subcellular Localization Clinical Progression Protein Phosphorylation Protein Kinase C Calcium Signaling Elevated Levels Lewy Body Diseases Genome Structure, Genomic Structure Communications Communication Independent Manner Wild Type Cell Biology New York Academy Thiamine Deficiency Brain Regions App Processing Linkage Disequilibrium Tourette Syndrome Large Numbers Processing Pathways Learning Ability Technical Note, Technical Notes Intracellular Degradation Alternative Routes Type Ii Long Term Activation Possible Relevance Quantitative Modeling, Quantitative Models, Quantitative Model Biological Chemistry

List of Publications (312)

In 2016

312

A spectral approach integrating functional genomic annotations for coding and noncoding variants. I Ionita-Laza, K McCallum, B Xu, JD Buxbaum Nature genetics 48 (2), 214-220, 2016.
Found on Publication Page

311

Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk. TJ Hohman, JN Cooke-Bailey, C Reitz, G Jun, A Naj, GW Beecham, Z Liu, ... Alzheimer's & Dementia 12 (3), 233-243, 2016.
Found on Publication Page

310

Prenatal maternal smoking and increased risk for Tourette syndrome and chronic tic disorders. HA Browne, A Modabbernia, JD Buxbaum, SN Hansen, DE Schendel, ... Journal of the American Academy of Child & Adolescent Psychiatry 55 (9), 784-791, 2016.
Found on Publication Page

309

Regulatory consequences of neuronal ELAV-like protein binding to coding and non-coding RNAs in human brain. C Scheckel, E Drapeau, MA Frias, CY Park, J Fak, I Zucker-Scharff, Y Kou, ... eLife 5, e10421, 2016.
Found on Publication Page

308

Measuring sensory reactivity in autism spectrum disorder: application and simplification of a clinician-administered sensory observation scale. T Tavassoli, K Bellesheim, PM Siper, AT Wang, D Halpern, M Gorenstein, ... Journal of autism and developmental disorders 46 (1), 287-293, 2016.
Found on Publication Page

307

Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women. D Mehta, FC Tropf, J Gratten, A Bakshi, Z Zhu, SA Bacanu, G Hemani, ... JAMA psychiatry 73 (5), 497-505, 2016.
Found on Publication Page

306

Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia. M Fromer, P Roussos, SK Sieberts, JS Johnson, DH Kavanagh, ... bioRxiv, 052209, 2016.
Found on Publication Page

305

Tissue-specific functional effect prediction of genetic variation and applications to complex trait genetics. D Backenroth, K Kiryluk, B Xu, L Pethukova, B Vardarajan, E Khurana, ... bioRxiv, 069229, 2016.
Found on Publication Page

304

Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome. AT Wang, T Lim, J Jamison, L Bush, LV Soorya, T Tavassoli, PM Siper, ... Journal of neurodevelopmental disorders 8 (1), 1, 2016.
Found on Publication Page

In 2015

303

Understanding autism in the light of sex/gender. MC Lai, S Baron-Cohen, JD Buxbaum Molecular autism 6 (1), 1, 2015.
Found on Publication Page

302

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease. GW Beecham, DW Dickson, WK Scott, ER Martin, G Schellenberg, ... Neurology 84 (10), 972-980, 2015.
Found on Publication Page

301

Canonical inflammasomes drive IFN- to prime caspase-11 in defense against a cytosol-invasive bacterium. Y Aachoui, Y Kajiwara, IA Leaf, D Mao, JPY Ting, J Coers, A Aderem, ... Cell host & microbe 18 (3), 320-332, 2015.
Found on Publication Page

300

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis. RA Kozol, HN Cukier, B Zou, V Mayo, S De Rubeis, G Cai, AJ Griswold, ... Human molecular genetics 24 (14), 4006-4023, 2015.
Found on Publication Page

299

The increasing prevalence of reported diagnoses of childhood psychiatric disorders: a descriptive multinational comparison. HO Atladottir, D Gyllenberg, A Langridge, S Sandin, SN Hansen, ... European child & adolescent psychiatry 24 (2), 173-183, 2015.
Found on Publication Page

298

Rarity of the Alzheimer DiseaseProtective APP A673T Variant in the United States. LS Wang, AC Naj, RR Graham, PK Crane, BW Kunkle, C Cruchaga, ... JAMA neurology 72 (2), 209-216, 2015.
Found on Publication Page

297

A novel Alzheimer disease locus located near the gene encoding tau protein. G Jun, CA Ibrahim-Verbaas, M Vronskaya, JC Lambert, J Chung, AC Naj, ... Molecular psychiatry, 2015.
Found on Publication Page

296

Genetics and genomics of autism spectrum disorder: embracing complexity. S De Rubeis, JD Buxbaum Human molecular genetics, ddv273, 2015.
Found on Publication Page

295

Autism-like deficits in Shank3-deficient mice are rescued by targeting actin regulators. LJ Duffney, P Zhong, J Wei, E Matas, J Cheng, L Qin, K Ma, DM Dietz, ... Cell reports 11 (9), 1400-1413, 2015.
Found on Publication Page

294

A Simplified Diagnostic Observational Assessment of Autism Spectrum Disorder in Early Childhood. D Grodberg, P Siper, J Jamison, JD Buxbaum, A Kolevzon Autism Research, 2015.
Found on Publication Page

293

Altered tactile processing in children with autism spectrum disorder. T Tavassoli, K Bellesheim, M Tommerdahl, JM Holden, A Kolevzon, ... Autism Research, 2015.
Found on Publication Page

292

Ultrastructural analyses in the hippocampus CA1 field in Shank3-deficient mice. N Uppal, R Puri, F Yuk, WGM Janssen, O Bozdagi-Gunal, ... Molecular autism 6 (1), 1, 2015.
Found on Publication Page

291

Landrigan PJ, Baker DB. The National Children's Study--end or new beginning?. The New England journal of medicine 2015 Apr; 372(16).
Found on Publication Text

290

Jun G, Ibrahim-Verbaas CA, Vronskaya M, Lambert JC, Chung J, Naj AC, Kunkle BW, Wang LS, Bis JC, Bellenguez C, Harold D, Lunetta KL, Destefano AL, Grenier-Boley B, Sims R, Beecham GW, Smith AV, Chouraki V, Hamilton-Nelson KL, Ikram MA, Fievet N, Denning N, Martin ER, Schmidt H, Kamatani Y, Dunstan ML, Valladares O, Laza AR, Zelenika D, Ramirez A, Foroud TM, Choi SH, Boland A, Becker T, Kukull WA, van der Lee SJ, Pasquier F, Cruchaga C, Beekly D, Fitzpatrick AL, Hanon O, Gill M, Barber R, Gudnason V, Campion D, Love S, Bennett DA, Amin N, Berr C, Tsolaki M, Buxbaum JD, Lopez OL, Deramecourt V, Fox NC, Cantwell LB, Tarraga L, Dufouil C, Hardy J, Crane PK, Eiriksdottir G, Hannequin D, Clarke R, Evans D, Mosley TH, Letenneur L, Brayne C, Maier W, De Jager P, Emilsson V, Dartigues JF, Hampel H, Kamboh MI, de Bruijn RF, Tzourio C, Pastor P, Larson EB, Rotter JI, O'Donovan MC, Montine TJ, Nalls MA, Mead S, Reiman EM, Jonsson PV, Holmes C, St George-Hyslop PH, Boada M, Passmore P, Wendland JR, Schmidt R, Morgan K, Winslow AR, Powell JF, Carasquillo M, Younkin SG, Jakobsdottir J, Kauwe JS, Wilhelmsen KC, Rujescu D, Nothen MM, Hofman A, Jones L, Haines JL, Psaty BM, Van Broeckhoven C, Holmans P, Launer LJ, Mayeux R, Lathrop M, Goate AM, Escott-Price V, Seshadri S, Pericak-Vance MA, Amouyel P, Williams J, van Duijn CM, Schellenberg GD, Farrer LA. A novel Alzheimer disease locus located near the gene encoding tau protein. Molecular psychiatry 2015 Mar;.
Found on Publication Text

289

Soorya LV, Siper PM, Beck T, Soffes S, Halpern D, Gorenstein M, Kolevzon A, Buxbaum J, Wang AT. Randomized comparative trial of a social cognitive skills group for children with autism spectrum disorder. Journal of the American Academy of Child and Adolescent Psychiatry 2015 Mar; 54(3).
Found on Publication Text

288

Wang LS, Naj AC, Graham RR, Crane PK, Kunkle BW, Cruchaga C, Murcia JD, Cannon-Albright L, Baldwin CT, Zetterberg H, Blennow K, Kukull WA, Faber KM, Schupf N, Norton MC, Tschanz JT, Munger RG, Corcoran CD, Rogaeva E, Lin CF, Dombroski BA, Cantwell LB, Partch A, Valladares O, Hakonarson H, St George-Hyslop P, Green RC, Goate AM, Foroud TM, Carney RM, Larson EB, Behrens TW, Kauwe JS, Haines JL, Farrer LA, Pericak-Vance MA, Mayeux R, Schellenberg GD, Albert MS, Albin RL, Apostolova LG, Arnold SE, Barber R, Barmada MM, Barnes LL, Beach TG, Becker JT, Beecham GW, Beekly D, Bennett DA, Bigio EH, Bird TD, Blacker D, Boeve BF, Bowen JD, Boxer A, Burke JR, Buxbaum JD, Cairns NJ, Cao C, Carlson CS, Carroll SL, Chui HC, Clark DG, Cribbs DH, Crocco EA, DeCarli C, DeKosky ST, Demirci FY, Dick M, Dickson DW, Duara R, Ertekin-Taner N, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Glass JD, Graff-Radford NR, Growdon JH, Hamilton RL, Hamilton-Nelson KL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jarvik GP, Jicha GA, Jin LW, Jun G, Kamboh MI, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Kramer JH, Kramer P, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lopez OL, Lunetta KL, Lyketsos CG, Mack WJ, Marson DC, Martin ER, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam MM, Miller BL, Miller CA, Miller JW, Montine TJ, Morris JC, Murrell JR, Olichney JM, Parisi JE, Perry W, Peskind E, Petersen RC, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reiman EM, Reisberg B, Reitz C, Ringman JM, Roberson ED, Rosen HJ, Rosenberg RN, Sano M, Saykin AJ, Schneider JA, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Tsuang DW, Van Deerlin VM, Van Eldik LJ, Vardarajan BN, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Williamson J, Wishnek S, Woltjer RL, Wright CB, Younkin SG, Yu CE, Yu L. Rarity of the Alzheimer Disease-Protective APP A673T Variant in the United States. JAMA neurology 2015 Feb; 72(2).
Found on Publication Text

287

Beecham GW, Dickson DW, Scott WK, Martin ER, Schellenberg G, Nuytemans K, Larson EB, Buxbaum JD, Trojanowski JQ, Van Deerlin VM, Hurtig HI, Mash DC, Beach TG, Troncoso JC, Pletnikova O, Frosch MP, Ghetti B, Foroud TM, Honig LS, Marder K, Vonsattel JP, Goldman SM, Vinters HV, Ross OA, Wszolek ZK, Wang L, Dykxhoorn DM, Pericak-Vance MA, Montine TJ, Leverenz JB, Dawson TM, Vance JM. PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease. Neurology 2015 Feb;.
Found on Publication Text

286

Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci. SJ Sanders, X He, AJ Willsey, AG Ercan-Sencicek, KE Samocha, ... Neuron 87 (6), 1215-1233, 2015.
Found on Publication Page

285

Familial clustering of tic disorders and obsessive-compulsive disorder. HA Browne, SN Hansen, JD Buxbaum, SL Gair, JB Nissen, KH Nikolajsen, ... JAMA psychiatry 72 (4), 359-366, 2015.
Found on Publication Page

284

Phelan McDermid Syndrome From Genetic Discoveries to Animal Models and Treatment. H Harony-Nicolas, S De Rubeis, A Kolevzon, JD Buxbaum Journal of child neurology 30 (14), 1861-1870, 2015.
Found on Publication Page

283

Association of long runs of homozygosity with Alzheimer disease among African American individuals. M Ghani, C Reitz, R Cheng, BN Vardarajan, G Jun, C Sato, A Naj, ... JAMA neurology 72 (11), 1313-1323, 2015.
Found on Publication Page

282

DSM-5 and psychiatric genetics-round hole, meet square peg. JD Buxbaum Biological psychiatry 77 (9), 766, 2015.
Found on Publication Page

281

Recent advances in the genetics of autism spectrum disorder. S De Rubeis, JD Buxbaum Current neurology and neuroscience reports 15 (6), 1-9, 2015.
Found on Publication Page

280

Genetics of CD33 in Alzheimer's disease and acute myeloid leukemia. M Malik, J Chiles, HS Xi, C Medway, J Simpson, S Potluri, D Howard, ... Human molecular genetics, ddv092, 2015.
Found on Publication Page

279

Randomized comparative trial of a social cognitive skills group for children with autism spectrum disorder. LV Soorya, PM Siper, T Beck, S Soffes, D Halpern, M Gorenstein, ... Journal of the American Academy of Child & Adolescent Psychiatry 54 (3), 208 ..., 2015.
Found on Publication Page

278

Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID. DM Cochoy, A Kolevzon, Y Kajiwara, M Schoen, M Pascual-Lucas, ... Molecular autism 6 (1), 1, 2015.
Found on Publication Page

In 2014

277

Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. GW Beecham, K Hamilton, AC Naj, ER Martin, M Huentelman, AJ Myers, ... PLoS Genet 10 (9), e1004606, 2014.
Found on Publication Page

276

De novo SCN2A splice site mutation in a boy with Autism spectrum disorder. T Tavassoli, A Kolevzon, AT Wang, J Curchack-Lichtin, D Halpern, ... BMC medical genetics 15 (1), 1, 2014.
Found on Publication Page

275

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. AC Naj, G Jun, C Reitz, BW Kunkle, W Perry, YS Park, GW Beecham, ... JAMA neurology 71 (11), 1394-1404, 2014.
Found on Publication Page

274

Neuropathology of the anterior midcingulate cortex in young children with autism. N Uppal, B Wicinski, JD Buxbaum, H Heinsen, C Schmitz, PR Hof Journal of Neuropathology & Experimental Neurology 73 (9), 891-902, 2014.
Found on Publication Page

273

Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans. MW Logue, M Schu, BN Vardarajan, J Farrell, DA Bennett, JD Buxbaum, ... Alzheimer's & Dementia 10 (6), 609-618. e11, 2014.
Found on Publication Page

272

Introduction of the human AVPR1A gene substantially alters brain receptor expression patterns and enhances aspects of social behavior in transgenic mice. R Charles, T Sakurai, N Takahashi, GA Elder, MAG Sosa, LJ Young, ... Disease Models and Mechanisms 7 (8), 1013-1022, 2014.
Found on Publication Page

271

Expression profiling associates blood and brain glucocorticoid receptor signaling with trauma-related individual differences in both sexes. NP Daskalakis, H Cohen, G Cai, JD Buxbaum, R Yehuda Proceedings of the National Academy of Sciences 111 (37), 13529-13534, 2014.
Found on Publication Page

270

Neuropathology of the posteroinferior occipitotemporal gyrus in children with autism. N Uppal, I Gianatiempo, B Wicinski, J Schmeidler, H Heinsen, C Schmitz, ... Molecular autism 5 (1), 1, 2014.
Found on Publication Page

269

Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring. A Kolevzon, B Angarita, L Bush, AT Wang, Y Frank, A Yang, R Rapaport, ... Journal of neurodevelopmental disorders 6 (1), 1, 2014.
Found on Publication Page

268

Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism. I Ionita-Laza, M Capanu, S De Rubeis, K McCallum, JD Buxbaum PLoS Genet 10 (12), e1004729, 2014.
Found on Publication Page

267

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. V Escott-Price, C Bellenguez, LS Wang, SH Choi, D Harold, L Jones, ... PloS one 9 (6), e94661, 2014.
Found on Publication Page

266

A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome. A Kolevzon, L Bush, AT Wang, D Halpern, Y Frank, D Grodberg, ... Molecular autism 5 (1), 1, 2014.
Found on Publication Page

265

Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder. ER Berko, M Suzuki, F Beren, C Lemetre, CM Alaimo, RB Calder, ... PLoS Genet 10 (5), e1004402, 2014.
Found on Publication Page

264

Maturation of cortical circuits requires Semaphorin 7A. I Carcea, SB Patil, AJ Robison, R Mesias, MM Huntsman, RC Froemke, ... Proceedings of the National Academy of Sciences 111 (38), 13978-13983, 2014.
Found on Publication Page

263

A critical role for human caspase-4 in endotoxin sensitivity. Y Kajiwara, T Schiff, G Voloudakis, MAG Sosa, G Elder, O Bozdagi, ... The Journal of Immunology 193 (1), 335-343, 2014.
Found on Publication Page

262

Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13. 3 as a susceptibility gene for schizophrenia and autism. I Ionita-Laza, B Xu, V Makarov, JD Buxbaum, JL Roos, JA Gogos, ... Proceedings of the National Academy of Sciences 111 (1), 343-348, 2014.
Found on Publication Page

261

The autism mental status exam: sensitivity and specificity using DSM-5 criteria for autism spectrum disorder in verbally fluent adults. D Grodberg, PM Weinger, D Halpern, M Parides, A Kolevzon, ... Journal of autism and developmental disorders 44 (3), 609-614, 2014.
Found on Publication Page

260

Transcriptomic changes in the frontal cortex associated with paternal age. RG Smith, C Fernandes, R Kember, LC Schalkwyk, J Buxbaum, ... Molecular autism 5 (1), 1, 2014.
Found on Publication Page

259

DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics. L Liu, J Lei, SJ Sanders, AJ Willsey, Y Kou, AE Cicek, L Klei, C Lu, X He, ... Molecular autism 5 (1), 1, 2014.
Found on Publication Page

258

Kolevzon A, Bush L, Wang AT, Halpern D, Frank Y, Grodberg D, Rapaport R, Tavassoli T, Chaplin W, Soorya L, Buxbaum JD. A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome. Molecular autism 2014 Dec; 5(1).
Found on Publication Text

257

De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Ercument Cicek A, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Fu SC, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Crooks L, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Sean Hill R, Ionita-Laza I, Jimenez Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei J, Lehtimaki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnstrom K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Ruther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Wang LS, Weiss LA, Jeremy Willsey A, Yu TW, Yuen RK, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barrett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 2014 Nov; 515(7526).
Found on Publication Text

256

PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation. G Jun, H Asai, E Zeldich, E Drapeau, CD Chen, J Chung, JH Park, S Kim, ... Annals of neurology 76 (3), 379-392, 2014.
Found on Publication Page

255

A framework for the interpretation of de novo mutation in human disease. KE Samocha, EB Robinson, SJ Sanders, C Stevens, A Sabo, LM McGrath, ... Nature genetics 46 (9), 944-950, 2014.
Found on Publication Page

254

Most genetic risk for autism resides with common variation. T Gaugler, L Klei, SJ Sanders, CA Bodea, AP Goldberg, AB Lee, ... Nature genetics 46 (8), 881-885, 2014.
Found on Publication Page

253

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. D Pinto, E Delaby, D Merico, M Barbosa, A Merikangas, L Klei, ... The American Journal of Human Genetics 94 (5), 677-694, 2014.
Found on Publication Page

252

Methods and assays for treating subjects with SHANK3 deletion, mutation or reduced expression. J Buxbaum, T Sakurai, O Gunal US Patent 8,691,762, 2014.
Found on Publication Page

251

Age-at-onset in late onset Alzheimer disease is modified by multiple genetic loci. AC Naj, G Jun, C Reitz, BW Kunkle, W Perry, YS Park, GW Beecham, ... JAMA neurology 71 (11), 1394, 2014.
Found on Publication Page

250

Synaptic, transcriptional and chromatin genes disrupted in autism. S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, AE Cicek, ... Nature 515 (7526), 209-215, 2014.
Found on Publication Page

249

The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses. JD Buxbaum, N Bolshakova, JM Brownfeld, RJL Anney, P Bender, ... Molecular autism 5 (1), 1, 2014.
Found on Publication Page

248

Absence of strong strain effects in behavioral analyses of Shank3-deficient mice. E Drapeau, NP Dorr, GA Elder, JD Buxbaum Disease Models and Mechanisms 7 (6), 667-681, 2014.
Found on Publication Page

247

Biological insights from 108 schizophrenia-associated genetic loci. S Ripke, BM Neale, A Corvin, JTR Walters, KH Farh, PA Holmans, P Lee, ... Nature 511 (7510), 421, 2014.
Found on Publication Page

In 2013

246

SHANK3 haploinsufficiency: a common but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders. C Betancur, JD Buxbaum Molecular autism 4 (1), 1, 2013.
Found on Publication Page

245

The neuroscience of autism spectrum disorders. JD Buxbaum, PR Hof Academic Press, 2013.
Found on Publication Page

244

Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome. S Karkheiran, CE Krebs, V Makarov, Y Nilipour, B Hubert, H Darvish, ... Human genetics 132 (3), 275-283, 2013.
Found on Publication Page

243

Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism. HJ Noh, CP Ponting, HC Boulding, S Meader, C Betancur, JD Buxbaum, ... PLoS Genet 9 (6), e1003523, 2013.
Found on Publication Page

242

Characterization of SLITRK1 variation in obsessive-compulsive disorder. U Ozomaro, G Cai, Y Kajiwara, S Yoon, V Makarov, R Delorme, ... PloS one 8 (8), e70376, 2013.
Found on Publication Page

241

The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. JF Mart-Mass, A Bergareche, V Makarov, J Ruiz-Martinez, A Gorostidi, ... Journal of Molecular Medicine 91 (12), 1399-1406, 2013.
Found on Publication Page

240

Advanced paternal age is associated with altered DNA methylation at brain-expressed imprinted loci in inbred mice: implications for neuropsychiatric disease. RG Smith, A Reichenberg, RL Kember, JD Buxbaum, LC Schalkwyk, ... Molecular psychiatry 18 (6), 635-636, 2013.
Found on Publication Page

239

Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA. CM Schafer, NG Campbell, G Cai, F Yu, V Makarov, S Yoon, MJ Daly, ... Genomics 102 (4), 270-277, 2013.
Found on Publication Page

238

De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder. PJ Hamilton, NG Campbell, S Sharma, K Erreger, FH Hansen, ... Molecular psychiatry 18 (12), 1315-1323, 2013.
Found on Publication Page

237

Copy number variations in alternative splicing gene networks impact lifespan. JT Glessner, AV Smith, S Panossian, CE Kim, N Takahashi, KA Thomas, ... PloS one 8 (1), e53846, 2013.
Found on Publication Page

236

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. L Soorya, A Kolevzon, J Zweifach, T Lim, Y Dobry, L Schwartz, Y Frank, ... Molecular autism 4 (1), 1, 2013.
Found on Publication Page

235

The behavioral manifestations of autism spectrum disorders. SH Kim, C Lord The Neuroscience of Autism Spectrum Disorders, 25-37, 2013.
Found on Publication Page

234

Family-based association tests for sequence data, and comparisons with population-based association tests. I Ionita-Laza, S Lee, V Makarov, JD Buxbaum, X Lin European Journal of Human Genetics 21 (10), 1158-1162, 2013.
Found on Publication Page

233

DSM-5: the debate continues. JD Buxbaum, S Baron-Cohen Molecular autism 4 (1), 1, 2013.
Found on Publication Page

232

Genetic evidence for association between NOTCH4 and schizophrenia supported by a GWAS follow-up study in a Japanese population. M Ikeda, B Aleksic, K Yamada, Y Iwayama-Shigeno, K Matsuo, S Numata, ... Molecular psychiatry 18 (6), 636-638, 2013.
Found on Publication Page

231

Latrepirdine improves cognition and arrests progression of neuropathology in an Alzheimer's mouse model. JW Steele, ML Lachenmayer, S Ju, A Stock, J Liken, SH Kim, LM Delgado, ... Molecular psychiatry 18 (8), 889-897, 2013.
Found on Publication Page

230

Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay. O Bozdagi, T Tavassoli, JD Buxbaum Molecular autism 4 (1), 1, 2013.
Found on Publication Page

229

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. L Liu, A Sabo, BM Neale, U Nagaswamy, C Stevens, E Lim, CA Bodea, ... PLoS Genet 9 (4), e1003443, 2013.
Found on Publication Page

228

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. X He, SJ Sanders, L Liu, S De Rubeis, ET Lim, JS Sutcliffe, ... PLoS Genet 9 (8), e1003671, 2013.
Found on Publication Page

227

Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. CS Poultney, AP Goldberg, E Drapeau, Y Kou, H Harony-Nicolas, ... The American Journal of Human Genetics 93 (4), 607-619, 2013.
Found on Publication Page

226

The Sac1 domain of SYNJ1 identified mutated in a family with earlyonset progressive Parkinsonism with generalized seizures. CE Krebs, S Karkheiran, JC Powell, M Cao, V Makarov, H Darvish, ... Human mutation 34 (9), 1200-1207, 2013.
Found on Publication Page

225

Epigenetic biomarkers as predictors and correlates of symptom improvement following psychotherapy in combat veterans with PTSD. R Yehuda, NP Daskalakis, F Desarnaud, I Makotkine, A Lehrner, E Koch, ... Frontiers in psychiatry 4, 118, 2013.
Found on Publication Page

224

The neurobiology of fear and anxiety: contributions of animal models to current understanding. CK Cain, GM Sullivan, JE LeDoux Neurobiology of Mental Illness, 549-566, 2013.
Found on Publication Page

223

Sequence kernel association tests for the combined effect of rare and common variants. I Ionita-Laza, S Lee, V Makarov, JD Buxbaum, X Lin The American Journal of Human Genetics 92 (6), 841-853, 2013.
Found on Publication Page

222

Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E 4, and the risk of late-onset Alzheimer disease in African Americans. C Reitz, G Jun, A Naj, R Rajbhandary, BN Vardarajan, LS Wang, ... Jama 309 (14), 1483-1492, 2013.
Found on Publication Page

221

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. ET Lim, S Raychaudhuri, SJ Sanders, C Stevens, A Sabo, DG MacArthur, ... Neuron 77 (2), 235-242, 2013.
Found on Publication Page

220

Genetic variation in PLXNA4 associated with susceptibility of Alzheimers disease through tau phosphorylation. G Jun, H Asai, E Drapeau, JH Park, E Zeldich, CD Chen, S Kim, T Foroud, ... Alzheimer's & Dementia: The Journal of the Alzheimer's Association 9 (4), P692, 2013.
Found on Publication Page

219

Sequencing of the sea lamprey (Petromyzon marinus) genome provides insights into vertebrate evolution. JJ Smith, S Kuraku, C Holt, T Sauka-Spengler, N Jiang, MS Campbell, ... Nature genetics 45 (4), 415-421, 2013.
Found on Publication Page

218

Neurobiology of mental illness. Oxford University Press, 2013.
Found on Publication Page

217

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. JC Lambert, CA Ibrahim-Verbaas, D Harold, AC Naj, R Sims, ... Nature genetics 45 (12), 1452-1458, 2013.
Found on Publication Page

In 2012

216

Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer disease. G Cai, G Atzmon, AC Naj, GW Beecham, N Barzilai, JL Haines, M Sano, ... Neurobiology of aging 33 (2), 416-417. e3, 2012.
Found on Publication Page

215

Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. JF Marti-Masso, J Ruiz-Martnez, V Makarov, AL de Munain, A Gorostidi, ... Human genetics 131 (3), 435-442, 2012.
Found on Publication Page

214

Optimizing the phenotyping of rodent ASD models: enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral features. JD Buxbaum, C Betancur, O Bozdagi, NP Dorr, GA Elder, PR Hof Molecular autism 3 (1), 1, 2012.
Found on Publication Page

213

Brief report: the autism mental status examination: development of a brief autism-focused exam. D Grodberg, PM Weinger, A Kolevzon, L Soorya, JD Buxbaum Journal of autism and developmental disorders 42 (3), 455-459, 2012.
Found on Publication Page

212

Advancing paternal age and simplex autism. CM Puleo, J Schmeidler, A Reichenberg, A Kolevzon, LV Soorya, ... Autism 16 (4), 367-380, 2012.
Found on Publication Page

211

Networkand attributebased classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability. Y Kou, C Betancur, H Xu, JD Buxbaum, A Ma'Ayan American Journal of Medical Genetics Part C: Seminars in Medical Genetics ..., 2012.
Found on Publication Page

210

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. PBS Celestino-Soper, S Violante, EL Crawford, R Luo, AC Lionel, ... Proceedings of the National Academy of Sciences 109 (21), 7974-7981, 2012.
Found on Publication Page

209

Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets. I Ionita-Laza, V Makarov, JD Buxbaum, ... The American Journal of Human Genetics 90 (6), 1002-1013, 2012.
Found on Publication Page

208

AnnTools: a comprehensive and versatile annotation toolkit for genomic variants. V Makarov, T O'Grady, G Cai, J Lihm, JD Buxbaum, S Yoon Bioinformatics 28 (5), 724-725, 2012.
Found on Publication Page

207

The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders. JD Buxbaum, MJ Daly, B Devlin, T Lehner, K Roeder, MW State, ... Neuron 76 (6), 1052-1056, 2012.
Found on Publication Page

206

Lysosomal dysfunction in a mouse model of Sandhoff disease leads to accumulation of ganglioside-bound amyloid- peptide. S Keilani, Y Lun, AC Stevens, HN Williams, ER Sjoberg, R Khanna, ... The Journal of Neuroscience 32 (15), 5223-5236, 2012.
Found on Publication Page

205

Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice. O Bozdagi, T Sakurai, N Dorr, M Pilorge, N Takahashi, JD Buxbaum PLoS One 7 (8), e42422, 2012.
Found on Publication Page

204

Rare structural variation of synapse and neurotransmission genes in autism. X Gai, HM Xie, JC Perin, N Takahashi, K Murphy, AS Wenocur, M D'arcy, ... Molecular psychiatry 17 (4), 402-411, 2012.
Found on Publication Page

203

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. JP Casey, T Magalhaes, JM Conroy, R Regan, N Shah, R Anney, ... Human genetics 131 (4), 565-579, 2012.
Found on Publication Page

202

HDAC2 regulates atypical antipsychotic responses through the modulation of mGlu2 promoter activity. M Kurita, T Holloway, A Garca-Bea, A Kozlenkov, AK Friedman, ... Nature neuroscience 15 (9), 1245-1254, 2012.
Found on Publication Page

201

Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice. M Yang, O Bozdagi, ML Scattoni, M Whr, FI Roullet, AM Katz, ... The Journal of Neuroscience 32 (19), 6525-6541, 2012.
Found on Publication Page

200

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. J Elia, JT Glessner, K Wang, N Takahashi, CJ Shtir, D Hadley, ... Nature genetics 44 (1), 78-84, 2012.
Found on Publication Page

199

Individual common variants exert weak effects on the risk for autism spectrum disorders. R Anney, L Klei, D Pinto, J Almeida, E Bacchelli, G Baird, N Bolshakova, ... Human molecular genetics 21 (21), 4781-4792, 2012.
Found on Publication Page

198

The effect of an autism-associated polymorphism in the STK39 gene on the autism symptom domains. RD Vavolizza, J Schmeidler, N Ramoz, JD Buxbaum, CJ Smith, ... Journal of autism and developmental disorders 42 (2), 319-320, 2012.
Found on Publication Page

197

General Class of Family-based Association Tests for Sequence Data, and Comparisons with Population-based Association Tests. I Ionita-Laza, S Lee, V Makarov, JD Buxbaum, X Lin GENETIC EPIDEMIOLOGY 36 (7), 720-720, 2012.
Found on Publication Page

196

Patterns and rates of exonic de novo mutations in autism spectrum disorders. BM Neale, Y Kou, L Liu, A MaAyan, KE Samocha, A Sabo, CF Lin, ... Nature 485 (7397), 242-245, 2012.
Found on Publication Page

195

Complex autism spectrum disorder in a patient with a 17q12 microduplication. T Brandt, K Desai, D Grodberg, L Mehta, N Cohen, A Tryfon, A Kolevzon, ... American journal of medical genetics. Part A 158 (5), 1170-1177, 2012.
Found on Publication Page

In 2011

194

Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions. T Sakurai, NP Dorr, N Takahashi, LA McInnes, GA Elder, JD Buxbaum Autism Research 4 (1), 28-39, 2011.
Found on Publication Page

193

Loss of function studies in mice and genetic association link receptor protein tyrosine phosphatase to schizophrenia. N Takahashi, KS Nielsen, B Aleksic, S Petersen, M Ikeda, I Kushima, ... Biological psychiatry 70 (7), 626-635, 2011.
Found on Publication Page

192

Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities. A Kolevzon, G Cai, L Soorya, N Takahashi, D Grodberg, Y Kajiwara, ... Brain research 1380, 98-105, 2011.
Found on Publication Page

191

Increased expression of receptor phosphotyrosine phosphatase-/ is associated with molecular, cellular, behavioral and cognitive schizophrenia phenotypes. N Takahashi, T Sakurai, O Bozdagi-Gunal, NP Dorr, J Moy, L Krug, ... Translational psychiatry 1 (5), e8, 2011.
Found on Publication Page

190

Calsenilin regulates presenilin 1/-secretase-mediated N-cadherin -cleavage and -catenin signaling. C Jang, JK Choi, YJ Na, B Jang, W Wasco, JD Buxbaum, YS Kim, ... The FASEB Journal 25 (12), 4174-4183, 2011.
Found on Publication Page

189

Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders. RJL Anney, EM Kenny, C O'Dushlaine, BL Yaspan, E Parkhomenka, ... European Journal of Human Genetics 19 (10), 1082-1089, 2011.
Found on Publication Page

188

In vivo 1 H-magnetic resonance spectroscopy study of the attentional networks in autism. S Bernardi, E Anagnostou, J Shen, A Kolevzon, JD Buxbaum, E Hollander, ... Brain research 1380, 198-205, 2011.
Found on Publication Page

187

Amyloid beta protein-induced zinc sequestration leads to synaptic loss via dysregulation of the ProSAP2/Shank3 scaffold. AM Grabrucker, MJ Schmeisser, PT Udvardi, M Arons, M Schoen, ... Molecular neurodegeneration 6 (1), 1, 2011.
Found on Publication Page

186

The emerging neuroscience of autism spectrum disorders. JD Buxbaum, PR Hof Brain research 1380, 1-2, 2011.
Found on Publication Page

185

Genetic markers for PTSD risk and resilience among survivors of the World Trade Center attacks. C Sarapas, G Cai, LM Bierer, JA Golier, S Galea, M Ising, T Rein, ... Disease markers 30 (2-3), 101-110, 2011.
Found on Publication Page

184

Calsenilin is degraded by the ubiquitinproteasome pathway. C Jang, JK Choi, EY Kim, ES Park, W Wasco, JD Buxbaum, YS Kim, ... Biochemical and biophysical research communications 405 (2), 180-185, 2011.
Found on Publication Page

183

Human induced pluripotent stem cells: a new model for schizophrenia?. JD Buxbaum, P Sklar Cell stem cell 8 (5), 461-462, 2011.
Found on Publication Page

182

Finding disease variants in Mendelian disorders by using sequence data: methods and applications. I Ionita-Laza, V Makarov, S Yoon, B Raby, J Buxbaum, DL Nicolae, X Lin The American Journal of Human Genetics 89 (6), 701-712, 2011.
Found on Publication Page

181

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. S Zchner, J Dallman, R Wen, G Beecham, A Naj, A Farooq, MA Kohli, ... The American Journal of Human Genetics 88 (2), 201-206, 2011.
Found on Publication Page

180

A new testing strategy to identify rare variants with either risk or protective effect on disease. I Ionita-Laza, JD Buxbaum, NM Laird, C Lange PLoS Genet 7 (2), e1001289, 2011.
Found on Publication Page

179

Linking oligodendrocyte and myelin dysfunction to neurocircuitry abnormalities in schizophrenia. N Takahashi, T Sakurai, KL Davis, JD Buxbaum Progress in neurobiology 93 (1), 13-24, 2011.
Found on Publication Page

178

No evidence for IL1RAPL1 involvement in selected highrisk autism pedigrees from the AGRE data set. K AllenBrady, G Cai, D Cannon, R Robison, WM McMahon, H Coon, ... Autism Research 4 (4), 293-296, 2011.
Found on Publication Page

177

Regeneration in the era of functional genomics and gene network analysis. J Smith, JR Morgan, SJ Zottoli, PJ Smith, JD Buxbaum, OE Bloom The Biological Bulletin 221 (1), 18-34, 2011.
Found on Publication Page

176

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. AC Naj, G Jun, GW Beecham, LS Wang, BN Vardarajan, J Buros, ... Nature genetics 43 (5), 436-441, 2011.
Found on Publication Page

In 2010

175

Functional impact of global rare copy number variation in autism spectrum disorders. D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico, R Regan, J Conroy, ... Nature 466 (7304), 368-372, 2010.
Found on Publication Page

174

Extensive proteomic screening identifies the obesity-related NYGGF4 protein as a novel LRP1-interactor, showing reduced expression in early Alzheimer's disease. Y Kajiwara, S Franciosi, N Takahashi, L Krug, J Schmeidler, K Taddei, ... Molecular neurodegeneration 5 (1), 1, 2010.
Found on Publication Page

173

PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility. GW Beecham, A Naj, JR Gilbert, JL Haines, JD Buxbaum, ... Psychiatric genetics 20 (6), 321, 2010.
Found on Publication Page

172

Genetics in psychiatry: common variant association studies. JD Buxbaum, S Baron-Cohen, B Devlin Molecular autism 1 (1), 1, 2010.
Found on Publication Page

171

Peripheral myelin protein-22 is expressed in CNS myelin. R Gasperi, M Sosa, Z Naumowicz, P Hof, L Notterpek, K Davis, ... Translational neuroscience 1 (4), 282-285, 2010.
Found on Publication Page

170

Profiling brain and plasma lipids in human apoe 2, 3, and 4 knock-in mice using electrospray ionization mass spectrometry. MJ Sharman, G Shui, AZ Fernandis, WLF Lim, T Berger, E Hone, K Taddei, ... Journal of Alzheimer's Disease 20 (1), 105-111, 2010.
Found on Publication Page

169

APOE genotype results in differential effects on the peripheral clearance of amyloid-42 in APOE knock-in and knock-out mice. MJ Sharman, M Morici, E Hone, T Berger, K Taddei, IJ Martins, WLF Lim, ... Journal of Alzheimer's Disease 21 (2), 403-409, 2010.
Found on Publication Page

168

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. LA McInnes, A Nakamine, M Pilorge, T Brandt, PJ Gonzlez, M Fallas, ... Molecular autism 1 (1), 1, 2010.
Found on Publication Page

167

A genome-wide study reveals copy number variants exclusive to childhood obesity cases. JT Glessner, JP Bradfield, K Wang, N Takahashi, H Zhang, PM Sleiman, ... The American Journal of Human Genetics 87 (5), 661-666, 2010.
Found on Publication Page

166

Slc25a12 disruption alters myelination and neurofilaments: a model for a hypomyelination syndrome and childhood neurodevelopmental disorders. T Sakurai, N Ramoz, M Barreto, M Gazdoiu, N Takahashi, M Gertner, ... Biological psychiatry 67 (9), 887-894, 2010.
Found on Publication Page

165

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2LDOCK4 gene region in autism susceptibility. E Maestrini, AT Pagnamenta, JA Lamb, E Bacchelli, NH Sykes, I Sousa, ... Molecular psychiatry 15 (9), 954-968, 2010.
Found on Publication Page

164

Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. AC Naj, GW Beecham, ER Martin, PJ Gallins, EH Powell, I Konidari, ... PLoS Genet 6 (9), e1001130, 2010.
Found on Publication Page

163

Putative biological mechanisms for the association between early life adversity and the subsequent development of PTSD. R Yehuda, JD Flory, LC Pratchett, J Buxbaum, M Ising, F Holsboer Psychopharmacology 212 (3), 405-417, 2010.
Found on Publication Page

162

Strong synaptic transmission impact by copy number variations in schizophrenia. JT Glessner, MP Reilly, CE Kim, N Takahashi, A Albano, C Hou, ... Proceedings of the National Academy of Sciences 107 (23), 10584-10589, 2010.
Found on Publication Page

161

Enhanced striatal dopamine transmission and motor performance with LRRK2 overexpression in mice is eliminated by familial Parkinson's disease mutation G2019S. X Li, JC Patel, J Wang, MV Avshalumov, C Nicholson, JD Buxbaum, ... The Journal of Neuroscience 30 (5), 1788-1797, 2010.
Found on Publication Page

160

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication. O Bozdagi, T Sakurai, D Papapetrou, X Wang, DL Dickstein, N Takahashi, ... Molecular autism 1 (1), 1, 2010.
Found on Publication Page

159

Dementia revealed: Novel chromosome 6 locus for late-onset Alzheimer's disease provides genetic evidence for folate-pathway abnormalities. AC Naj, GW Beecham, ER Martin, PJ Gallins, EH Powell, I Konidari, ... Alzheimer's & Dementia 6 (4), S74, 2010.
Found on Publication Page

158

Copy number polymorphism at chromosome 19 locus associated with late-onset Alzheimer's disease. GW Beecham, N Schnetz-Boutaud, J Bartlett, A Naj, J Gilbert, ER Martin, ... Alzheimer's & Dementia 6 (4), S113, 2010.
Found on Publication Page

157

Meta-analysis confirms CR1, CLU, and PICALM as Alzheimer disease risk loci and reveals interactions with APOE genotypes. G Jun, AC Naj, GW Beecham, LS Wang, J Buros, PJ Gallins, JD Buxbaum, ... Archives of neurology 67 (12), 1473-1484, 2010.
Found on Publication Page

156

Molecular Autism: accelerating and integrating research into neurodevelopmental conditions. JD Buxbaum, S Baron-Cohen Molecular autism 1 (1), 1, 2010.
Found on Publication Page

155

A genome-wide scan for common alleles affecting risk for autism. R Anney, L Klei, D Pinto, R Regan, J Conroy, TR Magalhaes, C Correia, ... Human molecular genetics, ddq307, 2010.
Found on Publication Page

In 2009

154

Novel cerebrovascular pathology in mice fed a high cholesterol diet. S Franciosi, MAG Sosa, DF English, E Oler, T Oung, WGM Janssen, ... Molecular neurodegeneration 4 (1), 1, 2009.
Found on Publication Page

153

Advancing paternal age is associated with deficits in social and exploratory behaviors in the offspring: a mouse model. RG Smith, RL Kember, J Mill, C Fernandes, LC Schalkwyk, JD Buxbaum, ... PLoS One 4 (12), e8456, 2009.
Found on Publication Page

152

Dietary composition modulates brain mass and solubilizable A levels in a mouse model of aggressive Alzheimer's amyloid pathology. S Pedrini, C Thomas, H Brautigam, J Schmeidler, L Ho, P Fraser, ... Molecular neurodegeneration 4 (1), 1, 2009.
Found on Publication Page

151

Linking white and grey matter in schizophrenia: oligodendrocyte and neuron pathology in the prefrontal cortex. M Histad, D Segal, N Takahashi, T Sakurai, JD Buxbaum, PR Hof Front Neuroanat 3 (9), 2009.
Found on Publication Page

150

FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4. Y Kajiwara, A Akram, P Katsel, V Haroutunian, J Schmeidler, G Beecham, ... PLoS One 4 (4), e5071, 2009.
Found on Publication Page

149

SLITRK1 binds 14-3-3 and regulates neurite outgrowth in a phosphorylation-dependent manner. Y Kajiwara, JD Buxbaum, DE Grice Biological psychiatry 66 (10), 918-925, 2009.
Found on Publication Page

148

Multiple rare variants in the etiology of autism spectrum disorders. JD Buxbaum Dialogues Clin Neurosci 11 (1), 35-43, 2009.
Found on Publication Page

147

PGC-1 expression decreases in the Alzheimer disease brain as a function of dementia. W Qin, V Haroutunian, P Katsel, CP Cardozo, L Ho, JD Buxbaum, ... Archives of neurology 66 (3), 352-361, 2009.
Found on Publication Page

146

Gene expression patterns associated with posttraumatic stress disorder following exposure to the World Trade Center attacks. R Yehuda, G Cai, JA Golier, C Sarapas, S Galea, M Ising, T Rein, ... Biological psychiatry 66 (7), 708-711, 2009.
Found on Publication Page

145

The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders. C Betancur, T Sakurai, JD Buxbaum Trends in neurosciences 32 (7), 402-412, 2009.
Found on Publication Page

144

Genome-wide association study validates associations in APOE, VDR, SORL1, WWC1, and ELAVL4 and identifies novel candidate genes for late-onset Alzheimer's disease. AC Naj, GW Beecham, MA Slifer, ER Martin, PJ Gallins, I Konidari, ... Alzheimer's & Dementia 5 (4), P150-P151, 2009.
Found on Publication Page

143

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. M Bucan, BS Abrahams, K Wang, JT Glessner, EI Herman, LI Sonnenblick, ... PLoS Genet 5 (6), e1000536, 2009.
Found on Publication Page

142

Genomewide association studies: history, rationale, and prospects for psychiatric disorders. Psychiatric GWAS Consortium Coordinating Committee American Journal of Psychiatry, 2009.
Found on Publication Page

141

A genome-wide linkage and association scan reveals novel loci for autism. LA Weiss, DE Arking, MJ Daly, A Chakravarti, CW Brune, K West, ... Nature 461 (7265), 802-808, 2009.
Found on Publication Page

140

Common genetic variants on 5p14. 1 associate with autism spectrum disorders. K Wang, H Zhang, D Ma, M Bucan, JT Glessner, BS Abrahams, ... Nature 459 (7246), 528-533, 2009.
Found on Publication Page

139

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. JT Glessner, K Wang, G Cai, O Korvatska, CE Kim, S Wood, H Zhang, ... Nature 459 (7246), 569-573, 2009.
Found on Publication Page

In 2008

138

Autismrelated routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism. JM Silverman, JD Buxbaum, N Ramoz, J Schmeidler, A Reichenberg, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 147 ..., 2008.
Found on Publication Page

137

A largescale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders. T Sakurai, J Reichert, EJ Hoffman, G Cai, HB Jones, M Faham, ... Autism Research 1 (4), 251-257, 2008.
Found on Publication Page

136

Increased locomotor activity in mice lacking the low-density lipoprotein receptor. GA Elder, A Ragnauth, N Dorr, S Franciosi, J Schmeidler, V Haroutunian, ... Behavioural brain research 191 (2), 256-265, 2008.
Found on Publication Page

135

SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects. AM Lepagnol-Bestel, G Maussion, B Boda, A Cardona, Y Iwayama, ... Molecular psychiatry 13 (4), 385-397, 2008.
Found on Publication Page

134

Molecular dissection of NRG1-ERBB4 signaling implicates PTPRZ1 as a potential schizophrenia susceptibility gene. JD Buxbaum, L Georgieva, JJ Young, C Plescia, Y Kajiwara, Y Jiang, ... Molecular psychiatry 13 (2), 162-172, 2008.
Found on Publication Page

133

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT. G Cai, L Edelmann, JE Goldsmith, N Cohen, A Nakamine, JG Reichert, ... BMC Medical Genomics 1 (1), 1, 2008.
Found on Publication Page

132

Gotham k, Risi s, Dawson g, Tager-Flusberg h, Joseph r, Carter a, Hepburn s, McMahon w, Rodier p, Hyman sl, Sigman m, Rogers s, Landa r, Spence ma, Osann k, Flodman p, Volkmar f, Hollander e, Buxbaum j, Pickles a, Lord c. A replication of the Autism Diagnostic Observation Schedule (ADOS) revised algorithms. J Am Acad Child Adolesc Psychiatry 2008; 47.
Found on Publication Text

131

Lepagnol-Bestel am, Maussion g, Boda b, Cardona a, Iwayama y, Delezoide al, Moalic jm, Muller d, Dean b, Yoshikawa t, Gorwood p, Buxbaum jd, Ramoz n, Simonneau m. SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects. Mol. Psych 2008; 13.
Found on Publication Text

130

Buxbaum jd, Georgieva l, Young jj, Plescia c, Kajiwara y, Jiang y, Moskvina v, Norton n, Peirce t, Williams h, Craddock nj, Carroll l, Corfas g, Davis kl, Owen mj, Harroch s, Sakurai t, O'Donovan mc. Molecular dissection of NRG1-ERBB4 signalling implicates PTPRZ1 as a potential schizophrenia susceptibility gene. Mol. Psych 2008; 13.
Found on Publication Text

129

A replication of the Autism Diagnostic Observation Schedule (ADOS) revised algorithms. K Gotham, S Risi, G Dawson, H Tager-Flusberg, R Joseph, A Carter, ... Journal of the American Academy of Child & Adolescent Psychiatry 47 (6), 642-651, 2008.
Found on Publication Page

128

An analysis of candidate autism loci on chromosome 2q24q33: evidence for association to the STK39 gene. N Ramoz, G Cai, JG Reichert, JM Silverman, JD Buxbaum American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 147 ..., 2008.
Found on Publication Page

In 2007

127

Evidence against roles for phorbol binding protein Munc13-1, ADAM adaptor Eve-1, or vesicle trafficking phosphoproteins Munc18 or NSF as phospho-state-sensitive modulators of phorbol/PKC-activated Alzheimer APP ectodomain shedding. AF Ikin, M Causevic, S Pedrini, LS Benson, JD Buxbaum, T Suzuki, ... Molecular neurodegeneration 2 (1), 1, 2007.
Found on Publication Page

126

Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. JD Buxbaum, G Cai, G Nygren, P Chaste, R Delorme, J Goldsmith, ... BMC medical genetics 8 (1), 1, 2007.
Found on Publication Page

125

Tau protein abnormalities associated with the progression of alzheimer disease type dementia. V Haroutunian, P Davies, C Vianna, JD Buxbaum, DP Purohit Neurobiology of aging 28 (1), 1-7, 2007.
Found on Publication Page

124

Transcriptional profiling of C57 and DBA strains of mice in the absence and presence of morphine. DE Grice, I Reenil, PT Mnnist, AI Brooks, GG Smith, GT Golden, ... BMC genomics 8 (1), 1, 2007.
Found on Publication Page

123

Elevated plasma cholesterol does not affect brain A in mice lacking the lowdensity lipoprotein receptor. GA Elder, JY Cho, DF English, S Franciosi, J Schmeidler, MAG Sosa, ... Journal of neurochemistry 102 (4), 1220-1231, 2007.
Found on Publication Page

122

Pepsin pretreatment allows collagen IV immunostaining of blood vessels in adult mouse brain. S Franciosi, R De Gasperi, DL Dickstein, DF English, AB Rocher, ... Journal of neuroscience methods 163 (1), 76-82, 2007.
Found on Publication Page

121

A macromolecular complex involving the amyloid precursor protein (APP) and the cytosolic adapter FE65 is a negative regulator of axon branching. AF Ikin, SL Sabo, LM Lanier, JD Buxbaum Molecular and Cellular Neuroscience 35 (1), 57-63, 2007.
Found on Publication Page

120

Insulin degrading enzyme activity selectively decreases in the hippocampal formation of cases at high risk to develop Alzheimer's disease. Z Zhao, Z Xiang, V Haroutunian, JD Buxbaum, B Stetka, GM Pasinetti Neurobiology of aging 28 (6), 824-830, 2007.
Found on Publication Page

119

Ikin af, Causevic m, Pedrini s, Benson ls, Buxbaum jd, Suzuki t, Lovestone s, Higashiyama s, Mustelin t, Burgoyne rd, Gandy s. Evidence against roles for phorbol binding protein Munc13-1, ADAM adaptor Eve-1, or vesicle trafficking phosphoproteins Munc18 or NSF in phorbol/PKC-activated Alzheimer APP ectodomain shedding. Mol Neurodegener 2007;.
Found on Publication Text

118

Elder ga, Cho jy, English df, Franciosi s, Schmeidler j, Gama Sosa ma, De Gasperi r, Fisher ea, Mathews pm, Haroutunian v, Buxbaum jd. Elevated plasma cholesterol does not affect brain AB in mice lacking the low-density lipoprotein receptor. J. Neurochem 2007; 102.
Found on Publication Text

117

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. JD Buxbaum, G Cai, P Chaste, G Nygren, J Goldsmith, J Reichert, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 144 ..., 2007.
Found on Publication Page

116

Identification of PTPRZ1 as a schizophrenia susceptibility gene. JD Buxbaum, J Young, L Georgieva, C Plescia, S Harroch, V Moskvina, ... SCHIZOPHRENIA BULLETIN 33 (2), 295-295, 2007.
Found on Publication Page

115

Do autism and ocd have shared genetic vulnerability?. JD Buxbaum, N Ramoz, T Sakurai, J Silverman, E Hollander European Psychiatry 22, S32-S33, 2007.
Found on Publication Page

114

Mapping autism risk loci using genetic linkage and chromosomal rearrangements. P Szatmari, AD Paterson, L Zwaigenbaum, W Roberts, J Brian, XQ Liu, ... Nature genetics 39 (3), 319-328, 2007.
Found on Publication Page

In 2006

113

Characterization of KIAA0513, a novel signaling molecule that interacts with modulators of neuroplasticity, apoptosis, and the cytoskeleton. TL Lauriat, S Dracheva, J Kremerskothen, K Duning, V Haroutunian, ... Brain research 1121 (1), 1-11, 2006.
Found on Publication Page

112

Downstream regulatory element antagonistic modulator regulates islet prodynorphin expression. DA Jacobson, J Cho, LR Landa, NA Tamarina, MW Roe, JD Buxbaum, ... American Journal of Physiology-Endocrinology and Metabolism 291 (3), E587-E595, 2006.
Found on Publication Page

111

Calsenilin interacts with transcriptional corepressor Cterminal binding protein (s). NF Zaidi, KG Kuplast, KJ Washicosky, Y Kajiwara, JD Buxbaum, W Wasco Journal of neurochemistry 98 (4), 1290-1301, 2006.
Found on Publication Page

110

Autism and ultraconserved non-coding sequence on chromosome 7q. E Richler, JG Reichert, JD Buxbaum, LA McInnes Psychiatric genetics 16 (1), 19-23, 2006.
Found on Publication Page

109

Association analysis of the NrCAM gene in autism and in subsets of families with severe obsessivecompulsive or self-stimulatory behaviors. T Sakurai, N Ramoz, JG Reichert, TE Corwin, L Kryzak, CJ Smith, ... Psychiatric genetics 16 (6), 251-257, 2006.
Found on Publication Page

108

Lack of evidence for association of the serotonin transporter gene SLC6A4 with autism. N Ramoz, JG Reichert, TE Corwin, CJ Smith, JM Silverman, E Hollander, ... Biological psychiatry 60 (2), 186-191, 2006.
Found on Publication Page

107

Familybased association study of TPH1 and TPH2 polymorphisms in autism. N Ramoz, G Cai, JG Reichert, TE Corwin, LA Kryzak, CJ Smith, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 141 ..., 2006.
Found on Publication Page

106

The genetics of autism spectrum disorders. DE Grice, JD Buxbaum Neuromolecular medicine 8 (4), 451-460, 2006.
Found on Publication Page

105

Receptor protein tyrosine phosphatase is a marker for pyramidal cells and sensory neurons in the nervous system and is not necessary for normal development. S Lamprianou, N Vacaresse, Y Suzuki, H Meziane, JD Buxbaum, ... Molecular and cellular biology 26 (13), 5106-5119, 2006.
Found on Publication Page

104

Convergent evidence for 2, 3-cyclic nucleotide 3-phosphodiesterase as a possible susceptibility gene for schizophrenia. TR Peirce, NJ Bray, NM Williams, N Norton, V Moskvina, A Preece, ... Archives of general psychiatry 63 (1), 18-24, 2006.
Found on Publication Page

103

Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophrenia. L Georgieva, V Moskvina, T Peirce, N Norton, NJ Bray, L Jones, ... Proceedings of the National Academy of Sciences 103 (33), 12469-12474, 2006.
Found on Publication Page

102

The genetic architecture of autism and related disorders. DE Grice, JD Buxbaum Clinical Neuroscience Research 6 (3), 161-168, 2006.
Found on Publication Page

101

Receptor tyrosine phosphatasegamma (RPTP) is a marker for pyramidal cells and sensory neurons in the nervous system and is not necessary for normal development. S Lamprianou, N Vacaresse, Y Suzuki, JD Buxbaum, J Schlessinger Mol. Cell Biol, 2006.
Found on Publication Page

In 2005

100

Fine mapping of the 5p13 locus linked to schizophrenia and schizotypal personality disorder in a Puerto Rican family. IN Bespalova, GW Angelo, M Durner, CJ Smith, LJ Siever, JD Buxbaum, ... Psychiatric genetics 15 (3), 205-210, 2005.
Found on Publication Page

Expression of calsenilin in neurons and astrocytes in the Alzheimer's disease brain. JK Jin, JK Choi, W Wasco, JD Buxbaum, PB Kozlowski, RI Carp, YS Kim, ... Neuroreport 16 (5), 451-455, 2005.
Found on Publication Page

Multiplexed variation scanning for 1,000 amplicons in hundreds of patients using mismatch repair detection (MRD) on tag arrays. M Faham, J Zheng, M Moorhead, H Fakhrai-Rad, E Namsaraev, K Wong, ... Proceedings of the National Academy of Sciences of the United States of ..., 2005.
Found on Publication Page

Candidate susceptibility genes for autism. IN Bespalova, J Reichert, JD Buxbaum The neurobiology of autism, 217-232, 2005.
Found on Publication Page

Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene. W Shu, JY Cho, Y Jiang, M Zhang, D Weisz, GA Elder, J Schmeidler, ... Proceedings of the National Academy of Sciences of the United States of ..., 2005.
Found on Publication Page

In 2004

Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes. NJ Bray, L Jehu, V Moskvina, JD Buxbaum, S Dracheva, V Haroutunian, ... Human molecular genetics 13 (22), 2885-2892, 2004.
Found on Publication Page

Methods and Compositions for Autism Risk Assessment. J Buxbaum, N Ramoz US Patent App. 10/581,140, 2004.
Found on Publication Page

A role for calsenilin and related proteins in multiple aspects of neuronal function. JD Buxbaum Biochemical and biophysical research communications 322 (4), 1140-1144, 2004.
Found on Publication Page

Familial symptom domains in monozygotic siblings with autism. A Kolevzon, CJ Smith, J Schmeidler, JD Buxbaum, JM Silverman American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 129 ..., 2004.
Found on Publication Page

A high proportion of polymorphisms in the promoters of brain expressed genes influences transcriptional activity. PR Buckland, B Hoogendoorn, CA Guy, SL Coleman, SK Smith, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1690 (3), 238-249, 2004.
Found on Publication Page

Use of the split-ubiquitin two-hybrid system to identify proteins interacting with the Alzheimer proteins APP and LRP. R Vitale, JD Buxbaum The Biological Bulletin 207 (2), 167-167, 2004.
Found on Publication Page

Atorvastatininduced activation of Alzheimer's secretase is resistant to standard inhibitors of protein phosphorylationregulated ectodomain shedding. S Parvathy, M Ehrlich, S Pedrini, N Diaz, L Refolo, JD Buxbaum, ... Journal of neurochemistry 90 (4), 1005-1010, 2004.
Found on Publication Page

Convergent functional genomics, association and linkage analysis suggests 2', 3'-cyclic nucleotide 3'-phosphodiesterase (CNP) as a potential susceptibility gene for schizophrenia [Conference Abstract]. TR Peirce, NJ Bray, NM Williams, V Haroutunian, J Buxbaum, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 130 ..., 2004.
Found on Publication Page

Intracellular calcium modulates the nuclear translocation of calsenilin. NF Zaidi, EE Thomson, EK Choi, JD Buxbaum, W Wasco Journal of neurochemistry 89 (3), 593-601, 2004.
Found on Publication Page

BACE (-secretase) modulates the processing of APLP2 in vivo. L Pastorino, AF Ikin, S Lamprianou, N Vacaresse, JP Revelli, K Platt, ... Molecular and Cellular Neuroscience 25 (4), 642-649, 2004.
Found on Publication Page

Linkage analysis for autism in a subset families with obsessivecompulsive behaviors: evidence for an autism susceptibility gene on chromosome 1 and further support for susceptibility genes on chromosome 6 and 19. JD Buxbaum, J Silverman, M Keddache, CJ Smith, E Hollander, N Ramoz, ... Molecular psychiatry 9 (2), 144-150, 2004.
Found on Publication Page

Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. N Ramoz, JG Reichert, CJ Smith, JM Silverman, IN Bespalova, KL Davis, ... American Journal of Psychiatry, 2004.
Found on Publication Page

A localization in abnormal endosomes: association with earliest A elevations in AD and Down syndrome. AM Cataldo, S Petanceska, NB Terio, CM Peterhoff, R Durham, ... Neurobiology of aging 25 (10), 1263-1272, 2004.
Found on Publication Page

Neuregulin 1-erbB signaling and the molecular/cellular basis of schizophrenia. G Corfas, K Roy, JD Buxbaum Nature neuroscience 7 (6), 575-580, 2004.
Found on Publication Page

In 2003

Molecular and cellular basis for anti-amyloid therapy in Alzheimer disease. S Gandy, RN Martins, J Buxbaum Alzheimer Disease & Associated Disorders 17 (4), 259-266, 2003.
Found on Publication Page

Phosphorylation of calsenilin at Ser63 regulates its cleavage by caspase-3. EK Choi, JS Miller, NF Zaidi, E Salih, JD Buxbaum, W Wasco Molecular and Cellular Neuroscience 23 (3), 495-506, 2003.
Found on Publication Page

Lack of association between the levels of the low-density lipoprotein receptor-related protein (LRP) and either Alzheimer dementia or LRP exon 3 genotype. M Causevic, N Ramoz, V Haroutunian, KL Davis, JD Buxbaum Journal of Neuropathology & Experimental Neurology 62 (10), 999-1005, 2003.
Found on Publication Page

Disease susceptibility genes for autism. IN Bespalova, JD Buxbaum Annals of medicine 35 (4), 274-281, 2003.
Found on Publication Page

Altered A formation and long-term potentiation in a calsenilin knock-out. C Lilliehook, O Bozdagi, J Yao, M Gomez-Ramirez, NF Zaidi, W Wasco, ... The Journal of neuroscience 23 (27), 9097-9106, 2003.
Found on Publication Page

BACE1 and BACE2 in pathologic and normal human muscle. G Vattemi, WK Engel, J McFerrin, L Pastorino, JD Buxbaum, V Askanas Experimental neurology 179 (2), 150-158, 2003.
Found on Publication Page

The amyloid precursor protein and its regulatory protein, FE65, in growth cones and synapses in vitro and in vivo. SL Sabo, AF Ikin, JD Buxbaum, P Greengard The Journal of neuroscience 23 (13), 5407-5415, 2003.
Found on Publication Page

Sodium channels SCN1A, SCN2A and SCN3A in familial autism. LA Weiss, A Escayg, JA Kearney, M Trudeau, BT MacDonald, M Mori, ... Molecular psychiatry 8 (2), 186-194, 2003.
Found on Publication Page

White matter changes in schizophrenia: evidence for myelin-related dysfunction. KL Davis, DG Stewart, JI Friedman, M Buchsbaum, PD Harvey, PR Hof, ... Archives of general psychiatry 60 (5), 443-456, 2003.
Found on Publication Page

In 2002

Method of treating amyloid beta precursor disorders. L Friedhoff, J Buxbaum, E Cullen US Patent App. 10/067,593, 2002.
Found on Publication Page

Calsenilin enhances apoptosis by altering endoplasmic reticulum calcium signaling. C Lilliehook, S Chan, EK Choi, NF Zaidi, W Wasco, MP Mattson, ... Molecular and Cellular Neuroscience 19 (4), 552-559, 2002.
Found on Publication Page

Biochemical and immunocytochemical characterization of calsenilin in mouse brain. NF Zaidi, O Berezovska, EK Choi, JS Miller, H Chan, C Lilliehook, ... Neuroscience 114 (1), 247-263, 2002.
Found on Publication Page

The carboxyl-terminus of BACE contains a sorting signal that regulates BACE trafficking but not the formation of total A. L Pastorino, AF Ikin, AC Nairn, A Pursnani, JD Buxbaum Molecular and Cellular Neuroscience 19 (2), 175-185, 2002.
Found on Publication Page

Pharmacological concentrations of the HMG-CoA reductase inhibitor lovastatin decrease the formation of the Alzheimer-amyloid peptide in vitro and in patients. JD Buxbaum, EI Cullen, LT Friedhoff Front Biosci 7, a50-a59, 2002.
Found on Publication Page

A critical role for the protein tyrosine phosphatase receptor type Z in functional recovery from demyelinating lesions. S Harroch, GC Furtado, W Brueck, J Rosenbluth, J Lafaille, M Chao, ... Nature genetics 32 (3), 411-414, 2002.
Found on Publication Page

Symptom domains in autism and related conditions: evidence for familiality. JM Silverman, CJ Smith, J Schmeidler, E Hollander, BA Lawlor, ... American Journal of Medical Genetics 114 (1), 64-73, 2002.
Found on Publication Page

Molecular and cellular evidence for an oligodendrocyte abnormality in schizophrenia. PR Hof, V Haroutunian, C Copland, KL Davis, JD Buxbaum Neurochemical research 27 (10), 1193-1200, 2002.
Found on Publication Page

Association between a GABRB3 polymorphism and autism. JD Buxbaum, JM Silverman, CJ Smith, DA Greenberg, M Kilifarski, ... Molecular psychiatry 7 (3), 311-316, 2002.
Found on Publication Page

In 2001

Presence of BACE1 and BACE2 in muscle fibres of patients with sporadic inclusion-body myositis. G Vattemi, WK Engel, J McFerrin, JD Buxbaum, L Pastorino, V Askanas The Lancet 358 (9297), 1962-1964, 2001.
Found on Publication Page

Symptom domains in autism and related conditions: Evidence for familiality. JM Silverman, CJ Smith, J Schmeidler, E Hollander, BA Lawlor, ... BIOLOGICAL PSYCHIATRY 49 (8), 32S-32S, 2001.
Found on Publication Page

Calsenilin is a substrate for caspase-3 that preferentially interacts with the familial Alzheimer's disease-associated C-terminal fragment of presenilin 2. EK Choi, NF Zaidi, JS Miller, AC Crowley, DE Merriam, C Lilliehook, ... Journal of Biological Chemistry 276 (22), 19197-19204, 2001.
Found on Publication Page

Cholesterol depletion with physiological concentrations of a statin decreases the formation of the Alzheimer amyloid A\ beta peptide. JD Buxbaum, NSM Geoghagen, LT Friedhoff Journal of Alzheimer's Disease 3 (2), 221-229, 2001.
Found on Publication Page

Correlation between Ax-40, Ax-42, and Ax-43containing amyloid plaques and cognitive decline. S Parvathy, P Davies, V Haroutunian, DP Purohit, KL Davis, RC Mohs, ... Archives of neurology 58 (12), 2025-2031, 2001.
Found on Publication Page

Calcium-regulated DNA binding and oligomerization of the neuronal calcium-sensing protein, calsenilin/DREAM/KChIP3. M Osawa, KI Tong, C Lilliehook, W Wasco, JD Buxbaum, HYM Cheng, ... Journal of Biological Chemistry 276 (44), 41005-41013, 2001.
Found on Publication Page

Treatment with controlled-release lovastatin decreases serum concentrations of human -amyloid (A) peptide. LT Friedhoff, EI Cullen, NSM Geoghagen, JD Buxbaum International Journal of Neuropsychopharmacology 4 (2), 127-130, 2001.
Found on Publication Page

Neuronal cyclooxygenase 2 expression in the hippocampal formation as a function of the clinical progression of Alzheimer disease. L Ho, D Purohit, V Haroutunian, JD Luterman, F Willis, J Naslund, ... Archives of neurology 58 (3), 487-492, 2001.
Found on Publication Page

The Alzheimer amyloid precursor protein (APP) and FE65, an APP-binding protein, regulate cell movement. SL Sabo, AF Ikin, JD Buxbaum, P Greengard The Journal of cell biology 153 (7), 1403-1414, 2001.
Found on Publication Page

Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. JD Buxbaum, JM Silverman, CJ Smith, M Kilifarski, J Reichert, ... The American Journal of Human Genetics 68 (6), 1514-1520, 2001.
Found on Publication Page

Subcellular localization of presenilin 2 endoproteolytic C-terminal fragments. TL Tekirian, DE Merriam, V Marshansky, J Miller, AC Crowley, H Chan, ... Molecular brain research 96 (1), 14-20, 2001.
Found on Publication Page

Genome-wide expression analysis reveals dysregulation of myelination-related genes in chronic schizophrenia. Y Hakak, JR Walker, C Li, WH Wong, KL Davis, JD Buxbaum, ... Proceedings of the National Academy of Sciences 98 (8), 4746-4751, 2001.
Found on Publication Page

In 2000

Correlation between elevated levels of amyloid -peptide in the brain and cognitive decline. J Nslund, V Haroutunian, R Mohs, KL Davis, P Davies, P Greengard, ... Jama 283 (12), 1571-1577, 2000.
Found on Publication Page

Calsenilin reverses presenilin-mediated enhancement of calcium signaling. MA Leissring, TR Yamasaki, W Wasco, JD Buxbaum, I Parker, FM LaFerla Proceedings of the National Academy of Sciences 97 (15), 8590-8593, 2000.
Found on Publication Page

Genomic structure, expression pattern, and chromosomal localization of the human calsenilin gene: no association between an exonic polymorphism and Alzheimer's disease. JD Buxbaum, C Lilliehook, JY Chan, RCP Go, SS Bassett, RE Tanzi, ... Neuroscience letters 294 (3), 135-138, 2000.
Found on Publication Page

No obvious abnormality in mice deficient in receptor protein tyrosine phosphatase . S Harroch, M Palmeri, J Rosenbluth, A Custer, M Okigaki, P Shrager, ... Molecular and Cellular Biology 20 (20), 7706-7715, 2000.
Found on Publication Page

Nicotinic receptor subtypes in human brain ageing, Alzheimer and Lewy body diseases. E Perry, C Martin-Ruiz, M Lee, M Griffiths, M Johnson, M Piggott, ... European journal of pharmacology 393 (1), 215-222, 2000.
Found on Publication Page

Tumor necrosis factor--converting enzyme is required for cleavage of erbB4/HER4. C Rio, JD Buxbaum, JJ Peschon, G Corfas Journal of Biological Chemistry 275 (14), 10379-10387, 2000.
Found on Publication Page

Endocytic alterations in human preclinical AD and a trisomic mouse model of down syndrome: Implications for -amyloidogenesis. AM Cataldo, RA Nixon, JC Troncoso, RA Durham, JD Buxbaum, ... Neurobiology of Aging 21, 65, 2000.
Found on Publication Page

A genome-wide linkage study in autism. JD Buxbaum, D Silveman, CJ Smith, MA Kilifarski, JG Reichert, BA Lawlor, ... AMERICAN JOURNAL OF HUMAN GENETICS 67 (4), 49-49, 2000.
Found on Publication Page

Intraneuronal A42 accumulation in human brain. GK Gouras, J Tsai, J Naslund, B Vincent, M Edgar, F Checler, ... The American journal of pathology 156 (1), 15-20, 2000.
Found on Publication Page

In 1999

Treatment and prevention of neurodegenerative diseases using modulators of Fe65. S Sabo, JD Buxbaum, P Greengard US Patent 5,928,882, 1999.
Found on Publication Page

A genome-wide linkage study in autism. JD Buxbaum, JM Silverman, CJ Smith, MA Kilifarski, JG Reichert, ... Molecular Psychiatry 4, S13-S13, 1999.
Found on Publication Page

Regulation of -amyloid secretion by FE65, an amyloid protein precursor-binding protein. SL Sabo, LM Lanier, AF Ikin, O Khorkova, S Sahasrabudhe, P Greengard, ... Journal of Biological Chemistry 274 (12), 7952-7957, 1999.
Found on Publication Page

RNA profiling in neuropsychiatric disorders. JD Buxbaum, V Haroutunian, KL Davis Nature Genetics 23, 35-36, 1999.
Found on Publication Page

In 1998

A novel Polish presenilin1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years. T Wisniewski, WK Dowjat, JD Buxbaum, O Khorkova, S Efthimiopoulos, ... Neuroreport 9 (2), 217-221, 1998.
Found on Publication Page

Generation and Regulation of Amyloid Peptide Variants by Neurons. GK Gouras, H Xu, JN Jovanovic, JD Buxbaum, R Wang, P Greengard, ... Journal of neurochemistry 71 (5), 1920-1925, 1998.
Found on Publication Page

Regulation of Secretion of Alzheimer Amyloid Precursor Protein by the MitogenActivated Protein Kinase Cascade. J DesdouitsMagnen, F Desdouits, S Takeda, LJ Syu, AR Saltiel, ... Journal of neurochemistry 70 (2), 524-530, 1998.
Found on Publication Page

Alzheimer amyloid protein precursor in the rat hippocampus: transport and processing through the perforant path. JD Buxbaum, G Thinakaran, V Koliatsos, J OCallahan, HH Slunt, ... The Journal of neuroscience 18 (23), 9629-9637, 1998.
Found on Publication Page

COMMUNICATIONS-Communication--Evidence that tumor necrosis factor a converting enzyme is involved in regulated a-secretase cleavage of the Alzheimer amyloid protein precursor. JD Buxbaum, KN Liu, Y Luo, JL Slack, KL Stocking, JJ Peschon, ... Journal of Biological Chemistry 273 (43), 27765-27767, 1998.
Found on Publication Page

Calsenilin: a calcium-binding protein that interacts with the presenilins and regulates the levels of a presenilin fragment. JD Buxbaum, EK Choi, Y Luo, C Lilliehook, AC Crowley, DE Merriam, ... Nature medicine 4 (10), 1177-1181, 1998.
Found on Publication Page

Estrogen reduces neuronal generation of Alzheimer -amyloid peptides. H Xu, GK Gouras, JP Greenfield, B Vincent, J Naslund, L Mazzarelli, ... Nat Med 4 (4), 447-51, 1998.
Found on Publication Page

Evidence that tumor necrosis factor converting enzyme is involved in regulated -secretase cleavage of the Alzheimer amyloid protein precursor. JD Buxbaum, KN Liu, Y Luo, JL Slack, KL Stocking, JJ Peschon, ... Journal of Biological Chemistry 273 (43), 27765-27767, 1998.
Found on Publication Page

In 1997

Increased Secretion of the AminoTerminal Fragment of Amyloid Precursor Protein in Brains of Rats with a Constitutive UpRegulation of Protein Kinase C. A Caputi, S Barindelli, L Pastorino, M Cimino, JD Buxbaum, F Cattabeni, ... Journal of neurochemistry 68 (6), 2523-2529, 1997.
Found on Publication Page

Characterization of new polyclonal antibodies specific for 40 and 42 amino acid-long amyloid beta peptides: their use to examine the cell biology of presenilins and the immunohistochemistry of sporadic Alzheimer's disease and cerebral amyloid angiopathy cases. H Barelli, A Lebeau, J Vizzavona, P Delaere, N Chevallier, C Drouot, ... Molecular Medicine 3 (10), 695, 1997.
Found on Publication Page

Interaction of the phosphotyrosine interaction/phosphotyrosine binding-related domains of Fe65 with wild-type and mutant Alzheimer's -amyloid precursor proteins. N Zambrano, JD Buxbaum, G Minopoli, F Fiore, P De Candia, ... Journal of Biological Chemistry 272 (10), 6399-6405, 1997.
Found on Publication Page

In 1996

Apolipoprotein E and amyloidogenesis. B Frangione, EM Castao, T Wisniewski, J Ghiso, F Prelli, R Vidal, Pepys, ... NATURE AND ORIGIN OF AMYLOID FIBRILS 199, 132-145, 1996.
Found on Publication Page

Method of treating amyloidosis by modulation of calcium. JD Buxbaum, P Greengard US Patent 5,538,983, 1996.
Found on Publication Page

Novel neuritic clusters with accumulations of amyloid precursor protein and amyloid precursor-like protein 2 immunoreactivity in brain regions damaged by thiamine deficiency. NY Calingasan, SE Gandy, H Baker, KF Sheu, JD Smith, BT Lamb, ... The American journal of pathology 149 (3), 1063, 1996.
Found on Publication Page

Regulation of APP Processing by Intraand Intercellular Signalsa. JD Buxbaum, P Greengard Annals of the New York Academy of Sciences 777 (1), 327-331, 1996.
Found on Publication Page

Amyloid Peptide Formation in Cell-free Preparations REGULATION BY PROTEIN KINASE C, CALMODULIN, AND CALCINEURIN. F Desdouits, JD Buxbaum, J Desdouits-Magnen, AC Nairn, P Greengard Journal of Biological Chemistry 271 (40), 24670-24674, 1996.
Found on Publication Page

Alzheimer amyloid protein precursor is localized in nerve terminal preparations to Rab5-containing vesicular organelles distinct from those implicated in the synaptic vesicle pathway. AF Ikin, WG Annaert, K Takei, P De Camilli, R Jahn, P Greengard, ... Journal of Biological Chemistry 271 (50), 31783-31786, 1996.
Found on Publication Page

Linkage disequilibrium between an allele at the dopamine D4 receptor locus and Tourette syndrome, by the transmission-disequilibrium test. DE Grice, JF Leckman, DL Pauls, R Kurlan, KK Kidd, AJ Pakstis, ... American journal of human genetics 59 (3), 644, 1996.
Found on Publication Page

In 1995

Post-translational control of the amyloid b-protein precursor processing. JD Buxbaum Pathobiology of Alzheimer's Disease, 99, 1995.
Found on Publication Page

Treatment of amyloidosis associated with Alzheimer disease using modulators of protein phosphorylation. JD Buxbaum, SE Gandy, P Greengard US Patent 5,385,915, 1995.
Found on Publication Page

In 1994

APP processing, A-amyloidogenesis, and the pathogenesis of Alzheimer's disease. S Gandy, G Caporaso, J Buxbaum, B Frangione, P Greengard Neurobiology of aging 15 (2), 253-256, 1994.
Found on Publication Page

Calcium regulates processing of the Alzheimer amyloid protein precursor in a protein kinase C-independent manner. JD Buxbaum, AA Ruefli, CA Parker, AM Cypess, P Greengard Proceedings of the National Academy of Sciences 91 (10), 4489-4493, 1994.
Found on Publication Page

In 1993

Protein Phosphorylation Regulates Relative Utilization of Processing Pathways for Alzheimer /A4 Amyloid Precursor Proteina. SE Gandy, GL Caporaso, JD Buxbaum, OC Silva, K Iverfeldt, C Nordstedt, ... Annals of the New York Academy of Sciences 695 (1), 117-121, 1993.
Found on Publication Page

Expression of APP in brains of transgenic mice containing the entire human APP gene. JD Buxbaum, JL Christensen, AA Ruefli, P Greengard, JF Loring Biochemical and biophysical research communications 197 (2), 639-645, 1993.
Found on Publication Page

Protein phosphorylation inhibits production of Alzheimer amyloid beta/A4 peptide. JD Buxbaum, EH Koo, P Greengard Proceedings of the National Academy of Sciences 90 (19), 9195-9198, 1993.
Found on Publication Page

In 1992

The nature and metabolism of potentially amyloidogenic carboxyl-terminal fragments of the Alzheimer A4-amyloid precursor protein: Some technical notes. SE Gandy, JD Buxbaum, T Suzuki, TV Ramabhadran, GL Caporaso, ... Neurobiology of aging 13 (5), 601-603, 1992.
Found on Publication Page

A cell biological approach to the therapy of Alzheimer-type cerebral /A4-amyloidosis. SE Gandy, JD Buxbaum, P Greengard Alzheimer's disease: New therapeutic strategies, 175-192, 1992.
Found on Publication Page

Chloroquine inhibits intracellular degradation but not secretion of Alzheimer beta/A4 amyloid precursor protein. GL Caporaso, SE Gandy, JD Buxbaum, P Greengard Proceedings of the National Academy of Sciences 89 (6), 2252-2256, 1992.
Found on Publication Page

Protein phosphorylation regulates secretion of Alzheimer beta/A4 amyloid precursor protein. GL Caporaso, SE Gandy, JD Buxbaum, TV Ramabhadran, P Greengard Proceedings of the National Academy of Sciences 89 (7), 3055-3059, 1992.
Found on Publication Page

Cholinergic agonists and interleukin 1 regulate processing and secretion of the Alzheimer beta/A4 amyloid protein precursor. JD Buxbaum, M Oishi, HI Chen, R Pinkas-Kramarski, EA Jaffe, SE Gandy, ... Proceedings of the National Academy of Sciences 89 (21), 10075-10078, 1992.
Found on Publication Page

Characterization of Alternative Routes for Processing of the Alzheimer /A4Amyloid Precursor Protein. SE Gandy, GL Caporaso, TV Ramabhadran, T Suzuki, JD Buxbaum, ... Annals of the New York Academy of Sciences 674 (1), 203-217, 1992.
Found on Publication Page

In 1990

Processing of Alzheimer beta/A4 amyloid precursor protein: modulation by agents that regulate protein phosphorylation. JD Buxbaum, SE Gandy, P Cicchetti, ME Ehrlich, AJ Czernik, ... Proceedings of the National Academy of Sciences 87 (15), 6003-6006, 1990.
Found on Publication Page

In 1989

A quantitative model for the kinetics of cAMP-dependent protein kinase (type II) activity. Long-term activation of the kinase and its possible relevance to learning and memory. JD Buxbaum, Y Dudai Journal of Biological Chemistry 264 (16), 9344-9351, 1989.
Found on Publication Page

In vivo protein phosphorylation in Drosophila mutants defective in learning and memory. JD Buxbaum, Y Dudai Neuroscience letters 104 (3), 351-355, 1989.
Found on Publication Page

In 1988

A microtiter-based assay for protein kinase activity suitable for the analysis of large numbers of samples, and its application to the study of Drosophila learning mutants. JD Buxbaum, Y Dudai Analytical biochemistry 169 (1), 209-215, 1988.
Found on Publication Page

In 1987

Formamidines interact withDrosophila octopamine receptors, alter the flies' behavior and reduce their learning ability. Y Dudai, J Buxbaum, G Corfas, M Ofarim Journal of Comparative Physiology A 161 (5), 739-746, 1987.
Found on Publication Page

In vitro protein phosphorylation in head preparations from normal and mutant Drosophila melanogaster. JD Buxbaum, Y Dudai Journal of neurochemistry 49 (4), 1161-1173, 1987.
Found on Publication Page

In 1986

Defective cAMP metabolism and defective memory in Drosophila. Y Dudai, J Buxbaum, G Corfas, S Orgad, D Segal, B Sher, A Uzzan, S Zvi Acta biochimica et biophysica Hungarica 21 (3), 177, 1986.
Found on Publication Page

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Colleagues

Brett Anderson

Mindich Child Health and Development Institute at the Icahn School of Medicine at Mount Sinai

Anna Rommel

Mindich Child Health and Development Institute at the Icahn School of Medicine at Mount Sinai

Alan Groves

Mindich Child Health and Development Institute at the Icahn School of Medicine at Mount Sinai

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