Joseph D. Buxbaum - Publications

Affiliations: 
Icahn School of Medicine at Mount Sinai, New York, NY, United States 
Area:
Alzheimer's Disease, Autism, Schizophrenia

302 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any innacuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Golden CEM, Breen MS, Koro L, Sonar S, Niblo K, Browne A, Burlant N, Di Marino D, De Rubeis S, Baxter MG, Buxbaum JD, Harony-Nicolas H. Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats. Cerebral Cortex (New York, N.Y. : 1991). PMID 30877790 DOI: 10.1093/cercor/bhz029  0.96
2019 Buxbaum JD, Baron-Cohen S, Anagnostou E, Ashwin C, Betancur C, Chakrabarti B, Crawley JN, Hoekstra RA, Hof PR, Lai MC, Lombardo MV, Schumann CM. Rigor in science and science reporting: updated guidelines for submissions to . Molecular Autism. 10: 6. PMID 30828415 DOI: 10.1186/s13229-018-0249-x  0.4
2019 Janecka M, Hansen SN, Modabbernia A, Browne HA, Buxbaum JD, Schendel DE, Reichenberg A, Parner ET, Grice DE. Parental Age and Differential Estimates of Risk for Neuropsychiatric Disorders: Findings From the Danish Birth Cohort. Journal of the American Academy of Child and Adolescent Psychiatry. PMID 30825496 DOI: 10.1016/j.jaac.2018.09.447  0.6
2019 Grove J, Ripke S, Als TD, Mattheisen M, Walters RK, Won H, Pallesen J, Agerbo E, Andreassen OA, Anney R, Awashti S, Belliveau R, Bettella F, Buxbaum JD, Bybjerg-Grauholm J, et al. Identification of common genetic risk variants for autism spectrum disorder. Nature Genetics. PMID 30804558 DOI: 10.1038/s41588-019-0344-8  0.96
2019 James DM, Kozol RA, Kajiwara Y, Wahl AL, Storrs EC, Buxbaum JD, Klein M, Moshiree B, Dallman JE. Intestinal dysmotility in a zebrafish () mutant model of autism. Molecular Autism. 10: 3. PMID 30733854 DOI: 10.1186/s13229-018-0250-4  0.6
2018 Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, ... ... Buxbaum JD, et al. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. Cell Reports. 25: 3544. PMID 30566877 DOI: 10.1016/j.celrep.2018.12.024  0.96
2018 Breen MS, Ozcan S, Ramsey JM, Wang Z, Ma'ayan A, Rustogi N, Gottschalk MG, Webster MJ, Weickert CS, Buxbaum JD, Bahn S. Temporal proteomic profiling of postnatal human cortical development. Translational Psychiatry. 8: 267. PMID 30518843 DOI: 10.1038/s41398-018-0306-4  0.36
2018 Srivastava S, Scherrer B, Prohl AK, Filip-Dhima R, Kapur K, Kolevzon A, Buxbaum JD, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Warfield SK, Sahin M. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatric Neurology. PMID 30396833 DOI: 10.1016/j.pediatrneurol.2018.09.008  0.72
2018 Drapeau E, Riad M, Kajiwara Y, Buxbaum JD. Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the Gene. Eneuro. 5. PMID 30302388 DOI: 10.1523/ENEURO.0046-18.2018  0.6
2018 Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, ... ... Buxbaum JD, et al. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. Cell Reports. 24: 3441-3454.e12. PMID 30257206 DOI: 10.1016/j.celrep.2018.08.082  0.96
2018 Wang M, Beckmann ND, Roussos P, Wang E, Zhou X, Wang Q, Ming C, Neff R, Ma W, Fullard JF, Hauberg ME, Bendl J, Peters MA, Logsdon B, Wang P, ... ... Buxbaum JD, et al. The Mount Sinai cohort of large-scale genomic, transcriptomic and proteomic data in Alzheimer's disease. Scientific Data. 5: 180185. PMID 30204156 DOI: 10.1038/sdata.2018.185  0.6
2018 Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C, Mei H, De Rubeis S, Reichert J, Lopes F, Vissers LELM, ... ... Buxbaum JD, et al. Identification of rare de novo epigenetic variations in congenital disorders. Nature Communications. 9: 2064. PMID 29802345 DOI: 10.1038/s41467-018-04540-x  0.96
2018 De Rubeis S, Siper PM, Durkin A, Weissman J, Muratet F, Halpern D, Trelles MDP, Frank Y, Lozano R, Wang AT, Holder JL, Betancur C, Buxbaum JD, Kolevzon A. Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by point mutations. Molecular Autism. 9: 31. PMID 29719671 DOI: 10.1186/s13229-018-0205-9  0.96
2018 Kim HJ, Lee WH, Kim MJ, Shin S, Jang B, Park JB, Wasco W, Buxbaum JD, Kim YS, Choi EK. Calsenilin, a Presenilin Interactor, Regulates RhoA Signaling and Neurite Outgrowth. International Journal of Molecular Sciences. 19. PMID 29652865 DOI: 10.3390/ijms19041196  0.36
2018 Berg EL, Copping NA, Rivera JK, Pride MC, Careaga M, Bauman MD, Berman RF, Lein PJ, Harony-Nicolas H, Buxbaum JD, Ellegood J, Lerch JP, Wöhr M, Silverman JL. Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder. Autism Research : Official Journal of the International Society For Autism Research. PMID 29377611 DOI: 10.1002/aur.1925  0.72
2017 Golden CE, Buxbaum JD, De Rubeis S. Disrupted circuits in mouse models of autism spectrum disorder and intellectual disability. Current Opinion in Neurobiology. 48: 106-112. PMID 29222989 DOI: 10.1016/j.conb.2017.11.006  0.96
2017 Kerur N, Fukuda S, Banerjee D, Kim Y, Fu D, Apicella I, Varshney A, Yasuma R, Fowler BJ, Baghdasaryan E, Marion KM, Huang X, Yasuma T, Hirano Y, Serbulea V, ... ... Buxbaum JD, et al. cGAS drives noncanonical-inflammasome activation in age-related macular degeneration. Nature Medicine. PMID 29176737 DOI: 10.1038/nm.4450  0.6
2017 Yip BHK, Bai D, Mahjani B, Klei L, Pawitan Y, Hultman CM, Grice DE, Roeder K, Buxbaum JD, Devlin B, Reichenberg A, Sandin S. Heritable Variation, With Little or No Maternal Effect, Accounts for Recurrence Risk to Autism Spectrum Disorder in Sweden. Biological Psychiatry. PMID 29100626 DOI: 10.1016/j.biopsych.2017.09.007  0.6
2017 Siper PM, De Rubeis S, Trelles MDP, Durkin A, Di Marino D, Muratet F, Frank Y, Lozano R, Eichler EE, Kelly M, Beighley J, Gerdts J, Wallace AS, Mefford HC, Bernier RA, ... ... Buxbaum JD, et al. Prospective investigation of FOXP1 syndrome. Molecular Autism. 8: 57. PMID 29090079 DOI: 10.1186/s13229-017-0172-6  0.96
2017 Engineer CT, Rahebi KC, Borland MS, Buell EP, Im KW, Wilson LG, Sharma P, Vanneste S, Harony-Nicolas H, Buxbaum JD, Kilgard MP. Shank3-Deficient rats exhibit degraded cortical responses to sound. Autism Research : Official Journal of the International Society For Autism Research. PMID 29052348 DOI: 10.1002/aur.1883  0.72
2017 Breen MS, Tylee DS, Maihofer AX, Neylan TC, Mehta D, Binder E, Chandler SD, Hess JL, Kremen WS, Risbrough VB, Woelk CH, Baker DG, Nievergelt CM, Tsuang MT, Buxbaum JD, et al. PTSD Blood Transcriptome Mega-Analysis: Shared Inflammatory Pathways Across Biological Sex and Modes of Trauma. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. PMID 28925389 DOI: 10.1038/npp.2017.220  0.32
2017 Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, ... ... Buxbaum JD, et al. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nature Neuroscience. PMID 28714951 DOI: 10.1038/nn.4598  0.96
2017 Alfieri A, Sorokina O, Adrait A, Angelini C, Russo I, Morellato A, Matteoli M, Menna E, Boeri Erba E, McLean C, Armstrong JD, Ala U, Buxbaum JD, Brusco A, Couté Y, et al. Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders. Frontiers in Molecular Neuroscience. 10: 212. PMID 28713243 DOI: 10.3389/fnmol.2017.00212  0.96
2017 Varghese M, Keshav N, Jacot-Descombes S, Warda T, Wicinski B, Dickstein DL, Harony-Nicolas H, De Rubeis S, Drapeau E, Buxbaum JD, Hof PR. Autism spectrum disorder: neuropathology and animal models. Acta Neuropathologica. PMID 28584888 DOI: 10.1007/s00401-017-1736-4  0.96
2017 Siper PM, Kolevzon A, Wang AT, Buxbaum JD, Tavassoli T. A clinician-administered observation and corresponding caregiver interview capturing DSM-5 sensory reactivity symptoms in children with ASD. Autism Research : Official Journal of the International Society For Autism Research. PMID 28296264 DOI: 10.1002/aur.1750  0.72
2017 Di Gregorio E, Riberi E, Belligni EF, Biamino E, Spielmann M, Ala U, Calcia A, Bagnasco I, Carli D, Gai G, Giordano M, Guala A, Keller R, Mandrile G, Arduino C, ... ... Buxbaum JD, et al. CNVs analysis in a cohort of isolated and syndromic DD/ID reveals novel genomic disorders, position effects and candidate disease genes. Clinical Genetics. PMID 28295210 DOI: 10.1111/cge.13009  0.96
2017 Rankine J, Li E, Lurie S, Rieger H, Fourie E, Siper PM, Wang AT, Buxbaum JD, Kolevzon A. Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder. Journal of Autism and Developmental Disorders. PMID 28255759 DOI: 10.1007/s10803-017-3082-8  0.72
2017 Harony-Nicolas H, Kay M, Hoffmann JD, Klein ME, Bozdagi-Gunal O, Riad M, Daskalakis NP, Sonar S, Castillo PE, Hof PR, Shapiro ML, Baxter MG, Wagner S, Buxbaum JD. Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat. Elife. 6. PMID 28139198 DOI: 10.7554/eLife.18904  0.72
2016 Wang M, Roussos P, McKenzie A, Zhou X, Kajiwara Y, Brennand KJ, De Luca GC, Crary JF, Casaccia P, Buxbaum JD, Ehrlich M, Gandy S, Goate A, Katsel P, Schadt E, et al. Integrative network analysis of nineteen brain regions identifies molecular signatures and networks underlying selective regional vulnerability to Alzheimer's disease. Genome Medicine. 8: 104. PMID 27799057 DOI: 10.1186/s13073-016-0355-3  0.6
2016 Siper PM, Zemon V, Gordon J, George-Jones J, Lurie S, Zweifach J, Tavassoli T, Wang AT, Jamison J, Buxbaum JD, Kolevzon A. Rapid and Objective Assessment of Neural Function in Autism Spectrum Disorder Using Transient Visual Evoked Potentials. Plos One. 11: e0164422. PMID 27716799 DOI: 10.1371/journal.pone.0164422  0.72
2016 Browne HA, Modabbernia A, Buxbaum JD, Hansen SN, Schendel DE, Parner ET, Reichenberg A, Grice DE. Prenatal Maternal Smoking and Increased Risk for Tourette Syndrome and Chronic Tic Disorders. Journal of the American Academy of Child and Adolescent Psychiatry. 55: 784-91. PMID 27566119 DOI: 10.1016/j.jaac.2016.06.010  0.6
2016 Kajiwara Y, McKenzie A, Dorr N, Gama Sosa MA, Elder G, Schmeidler J, Dickstein DL, Bozdagi O, Zhang B, Buxbaum JD. The human-specific CASP4 gene contributes to Alzheimer-related synaptic and behavioral deficits. Human Molecular Genetics. PMID 27516385 DOI: 10.1093/hmg/ddw265  0.6
2016 Daskalakis NP, Cohen H, Nievergelt CM, Baker DG, Buxbaum JD, Russo SJ, Yehuda R. New translational perspectives for blood-based biomarkers of PTSD: From glucocorticoid to immune mediators of stress susceptibility. Experimental Neurology. PMID 27481726 DOI: 10.1016/j.expneurol.2016.07.024  0.44
2016 Mehta D, Tropf FC, Gratten J, Bakshi A, Zhu Z, Bacanu SA, Hemani G, Magnusson PK, Barban N, Esko T, Metspalu A, Snieder H, Mowry BJ, Kendler KS, Yang J, ... ... Buxbaum JD, et al. Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women. Jama Psychiatry. PMID 27007234 DOI: 10.1001/jamapsychiatry.2016.0129  0.48
2016 Wang AT, Lim T, Jamison J, Bush L, Soorya LV, Tavassoli T, Siper PM, Buxbaum JD, Kolevzon A. Erratum to: Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome. Journal of Neurodevelopmental Disorders. 8: 8. PMID 26981159 DOI: 10.1186/s11689-016-9143-z  0.72
2016 Wang AT, Lim T, Jamison J, Bush L, Soorya LV, Tavassoli T, Siper PM, Buxbaum JD, Kolevzon A. Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome. Journal of Neurodevelopmental Disorders. 8: 5. PMID 26909118 DOI: 10.1186/s11689-016-9138-9  1
2016 Scheckel C, Drapeau E, Frias MA, Park CY, Fak J, Zucker-Scharff I, Kou Y, Haroutunian V, Ma'ayan A, Buxbaum JD, Darnell RB. Regulatory consequences of neuronal ELAV-like protein binding to coding and non-coding RNAs in human brain. Elife. 5. PMID 26894958 DOI: 10.7554/eLife.10421  1
2016 Hsiao K, Harony-Nicolas H, Buxbaum JD, Bozdagi-Gunal O, Benson DL. Cyfip1 Regulates Presynaptic Activity during Development. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 36: 1564-76. PMID 26843638 DOI: 10.1523/JNEUROSCI.0511-15.2016  0.72
2015 Tavassoli T, Bellesheim K, Tommerdahl M, Holden JM, Kolevzon A, Buxbaum JD. Altered tactile processing in children with autism spectrum disorder. Autism Research : Official Journal of the International Society For Autism Research. PMID 26568449 DOI: 10.1002/aur.1563  0.72
2015 Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF, Klei L, Mandell JD, ... ... Buxbaum JD, et al. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 87: 1215-1233. PMID 26402605 DOI: 10.1016/j.neuron.2015.09.016  1
2015 Harony-Nicolas H, De Rubeis S, Kolevzon A, Buxbaum JD. Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment. Journal of Child Neurology. PMID 26350728 DOI: 10.1177/0883073815600872  1
2015 Tavassoli T, Bellesheim K, Siper PM, Wang AT, Halpern D, Gorenstein M, Grodberg D, Kolevzon A, Buxbaum JD. Measuring Sensory Reactivity in Autism Spectrum Disorder: Application and Simplification of a Clinician-Administered Sensory Observation Scale. Journal of Autism and Developmental Disorders. PMID 26340959 DOI: 10.1007/s10803-015-2578-3  0.72
2015 Aachoui Y, Kajiwara Y, Leaf IA, Mao D, Ting JP, Coers J, Aderem A, Buxbaum JD, Miao EA. Canonical Inflammasomes Drive IFN-γ to Prime Caspase-11 in Defense against a Cytosol-Invasive Bacterium. Cell Host & Microbe. 18: 320-32. PMID 26320999 DOI: 10.1016/j.chom.2015.07.016  0.6
2015 Grodberg D, Siper P, Jamison J, Buxbaum JD, Kolevzon A. A Simplified Diagnostic Observational Assessment of Autism Spectrum Disorder in Early Childhood. Autism Research : Official Journal of the International Society For Autism Research. PMID 26305145 DOI: 10.1002/aur.1539  1
2015 De Rubeis S, Buxbaum JD. Genetics and genomics of autism spectrum disorder: embracing complexity. Human Molecular Genetics. PMID 26188008 DOI: 10.1093/hmg/ddv273  1
2015 Uppal N, Puri R, Yuk F, Janssen WG, Bozdagi-Gunal O, Harony-Nicolas H, Dickstein DL, Buxbaum JD, Hof PR. Ultrastructural analyses in the hippocampus CA1 field in Shank3-deficient mice. Molecular Autism. 6: 41. PMID 26137200 DOI: 10.1186/s13229-015-0036-x  1
2015 Mukherjee S, Walter S, Kauwe JS, Saykin AJ, Bennett DA, Larson EB, Crane PK, Glymour MM. Genetically predicted body mass index and Alzheimer's disease-related phenotypes in three large samples: Mendelian randomization analyses. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 26079416 DOI: 10.1016/j.jalz.2015.05.015  1
2015 Cochoy DM, Kolevzon A, Kajiwara Y, Schoen M, Pascual-Lucas M, Lurie S, Buxbaum JD, Boeckers TM, Schmeisser MJ. Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID. Molecular Autism. 6: 23. PMID 26045941 DOI: 10.1186/s13229-015-0020-5  1
2015 Kolevzon A, Bush L, Wang AT, Halpern D, Frank Y, Grodberg D, Rapaport R, Tavassoli T, Chaplin W, Soorya L, Buxbaum JD. Erratum: A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome. Molecular Autism. 6: 31. PMID 26034557 DOI: 10.1186/s13229-015-0025-0  0.72
2015 Duffney LJ, Zhong P, Wei J, Matas E, Cheng J, Qin L, Ma K, Dietz DM, Kajiwara Y, Buxbaum JD, Yan Z. Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators. Cell Reports. 11: 1400-13. PMID 26027926 DOI: 10.1016/j.celrep.2015.04.064  0.6
2015 Lai MC, Baron-Cohen S, Buxbaum JD. Understanding autism in the light of sex/gender. Molecular Autism. 6: 24. PMID 25973161 DOI: 10.1186/s13229-015-0021-4  1
2015 De Rubeis S, Buxbaum JD. Recent advances in the genetics of autism spectrum disorder. Current Neurology and Neuroscience Reports. 15: 36. PMID 25946996 DOI: 10.1007/s11910-015-0553-1  1
2015 Kozol RA, Cukier HN, Zou B, Mayo V, De Rubeis S, Cai G, Griswold AJ, Whitehead PL, Haines JL, Gilbert JR, Cuccaro ML, Martin ER, Baker JD, Buxbaum JD, Pericak-Vance MA, et al. Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis. Human Molecular Genetics. 24: 4006-23. PMID 25882707 DOI: 10.1093/hmg/ddv138  1
2015 Buxbaum JD. DSM-5 and psychiatric genetics - round hole, meet square peg. Biological Psychiatry. 77: 766-8. PMID 25843333 DOI: 10.1016/j.biopsych.2015.02.031  1
2015 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. 54: 208-216.e1. PMID 25721186 DOI: 10.1016/j.jaac.2014.12.005  1
2015 Browne HA, Hansen SN, Buxbaum JD, Gair SL, Nissen JB, Nikolajsen KH, Schendel DE, Reichenberg A, Parner ET, Grice DE. Familial clustering of tic disorders and obsessive-compulsive disorder. Jama Psychiatry. 72: 359-66. PMID 25692669 DOI: 10.1001/jamapsychiatry.2014.2656  0.6
2015 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, et al. PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease. Neurology. 84: 972-80. PMID 25663231 DOI: 10.1212/WNL.0000000000001332  1
2015 . Convergent genetic and expression data implicate immunity in Alzheimer's disease. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. 11: 658-71. PMID 25533204 DOI: 10.1016/j.jalz.2014.05.1757  1
2015 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, ... ... Buxbaum JD, et al. Rarity of the Alzheimer disease-protective APP A673T variant in the United States. Jama Neurology. 72: 209-16. PMID 25531812 DOI: 10.1001/jamaneurol.2014.2157  1
2015 Atladottir HO, Gyllenberg D, Langridge A, Sandin S, Hansen SN, Leonard H, Gissler M, Reichenberg A, Schendel DE, Bourke J, Hultman CM, Grice DE, Buxbaum JD, Parner ET. The increasing prevalence of reported diagnoses of childhood psychiatric disorders: a descriptive multinational comparison. European Child & Adolescent Psychiatry. 24: 173-83. PMID 24796725 DOI: 10.1007/s00787-014-0553-8  0.6
2015 Aachoui Y, Kajiwara Y, Leaf IA, Mao D, Ting JPY, Coers J, Aderem A, Buxbaum JD, Miao EA. Canonical Inflammasomes Drive IFN-γ to Prime Caspase-11 in Defense against a Cytosol-Invasive Bacterium Cell Host and Microbe. 18: 320-332. DOI: 10.1016/j.chom.2015.07.016  0.6
2015 Tavassoli T, Bellesheim K, Siper PM, Wang AT, Halpern D, Gorenstein M, Grodberg D, Kolevzon A, Buxbaum JD. Measuring Sensory Reactivity in Autism Spectrum Disorder: Application and Simplification of a Clinician-Administered Sensory Observation Scale Journal of Autism and Developmental Disorders. DOI: 10.1007/s10803-015-2578-3  1
2015 Ghani M, Reitz C, Cheng R, Vardarajan BN, Jun G, Sato C, Naj A, Rajbhandary R, Wang LS, Valladares O, Lin CF, Larson EB, Graff-Radford NR, Evans D, De Jager PL, ... ... Buxbaum JD, et al. Association of long runs of homozygosity with Alzheimer disease among African American individuals Jama Neurology. 72: 1313-1323. DOI: 10.1001/jamaneurol.2015.1700z  0.44
2014 Kolevzon A, Angarita B, Bush L, Wang AT, Frank Y, Yang A, Rapaport R, Saland J, Srivastava S, Farrell C, Edelmann LJ, Buxbaum JD. Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring. Journal of Neurodevelopmental Disorders. 6: 39. PMID 25784960 DOI: 10.1186/1866-1955-6-39  1
2014 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. 5: 54. PMID 25685306 DOI: 10.1186/2040-2392-5-54  1
2014 Ionita-Laza I, Capanu M, De Rubeis S, McCallum K, Buxbaum JD. Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism. Plos Genetics. 10: e1004729. PMID 25502226 DOI: 10.1371/journal.pgen.1004729  1
2014 Buxbaum JD, Bolshakova N, Brownfeld JM, Anney RJ, Bender P, Bernier R, Cook EH, Coon H, Cuccaro M, Freitag CM, Hallmayer J, Geschwind D, Klauck SM, Nurnberger JI, Oliveira G, et al. The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses. Molecular Autism. 5: 34. PMID 25392729 DOI: 10.1186/2040-2392-5-34  1
2014 De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, ... ... Buxbaum JD, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 515: 209-15. PMID 25363760 DOI: 10.1038/nature13772  0.32
2014 Carcea I, Patil SB, Robison AJ, Mesias R, Huntsman MM, Froemke RC, Buxbaum JD, Huntley GW, Benson DL. Maturation of cortical circuits requires Semaphorin 7A. Proceedings of the National Academy of Sciences of the United States of America. 111: 13978-83. PMID 25201975 DOI: 10.1073/pnas.1408680111  1
2014 Naj AC, Jun G, Reitz C, Kunkle BW, Perry W, Park YS, Beecham GW, Rajbhandary RA, Hamilton-Nelson KL, Wang LS, Kauwe JS, Huentelman MJ, Myers AJ, Bird TD, Boeve BF, ... ... Buxbaum JD, et al. Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. Jama Neurology. 71: 1394-404. PMID 25199842 DOI: 10.1001/jamaneurol.2014.1491  1
2014 Beecham GW, Hamilton K, Naj AC, Martin ER, Huentelman M, Myers AJ, Corneveaux JJ, Hardy J, Vonsattel JP, Younkin SG, Bennett DA, De Jager PL, Larson EB, Crane PK, Kamboh MI, ... ... Buxbaum JD, et al. Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. Plos Genetics. 10: e1004606. PMID 25188341 DOI: 10.1371/journal.pgen.1004606  1
2014 Logue MW, Schu M, Vardarajan BN, Farrell J, Bennett DA, Buxbaum JD, Byrd GS, Ertekin-Taner N, Evans D, Foroud T, Goate A, Graff-Radford NR, Kamboh MI, Kukull WA, Manly JJ, et al. Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. 10: 609-618.e11. PMID 25172201 DOI: 10.1016/j.jalz.2014.06.010  1
2014 Daskalakis NP, Cohen H, Cai G, Buxbaum JD, Yehuda R. Expression profiling associates blood and brain glucocorticoid receptor signaling with trauma-related individual differences in both sexes. Proceedings of the National Academy of Sciences of the United States of America. 111: 13529-34. PMID 25114262 DOI: 10.1073/pnas.1401660111  1
2014 Uppal N, Wicinski B, Buxbaum JD, Heinsen H, Schmitz C, Hof PR. Neuropathology of the anterior midcingulate cortex in young children with autism. Journal of Neuropathology and Experimental Neurology. 73: 891-902. PMID 25101703 DOI: 10.1097/NEN.0000000000000108  1
2014 Samocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, Kosmicki JA, Rehnström K, Mallick S, Kirby A, Wall DP, MacArthur DG, Gabriel SB, DePristo M, Purcell SM, ... ... Buxbaum JD, et al. A framework for the interpretation of de novo mutation in human disease. Nature Genetics. 46: 944-50. PMID 25086666 DOI: 10.1038/ng.3050  1
2014 Jun G, Asai H, Zeldich E, Drapeau E, Chen C, Chung J, Park JH, Kim S, Haroutunian V, Foroud T, Kuwano R, Haines JL, Pericak-Vance MA, Schellenberg GD, Lunetta KL, ... ... Buxbaum JD, et al. PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation. Annals of Neurology. 76: 379-92. PMID 25043464 DOI: 10.1002/ana.24219  1
2014 Gaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, Mahajan M, Manaa D, Pawitan Y, Reichert J, Ripke S, Sandin S, Sklar P, Svantesson O, Reichenberg A, ... ... Buxbaum JD, et al. Most genetic risk for autism resides with common variation. Nature Genetics. 46: 881-5. PMID 25038753 DOI: 10.1038/ng.3039  1
2014 Charles R, Sakurai T, Takahashi N, Elder GA, Gama Sosa MA, Young LJ, Buxbaum JD. Introduction of the human AVPR1A gene substantially alters brain receptor expression patterns and enhances aspects of social behavior in transgenic mice. Disease Models & Mechanisms. 7: 1013-22. PMID 24924430 DOI: 10.1242/dmm.017053  1
2014 Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, ... ... Buxbaum JD, et al. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. Plos One. 9: e94661. PMID 24922517 DOI: 10.1371/journal.pone.0094661  1
2014 Kajiwara Y, Schiff T, Voloudakis G, Gama Sosa MA, Elder G, Bozdagi O, Buxbaum JD. A critical role for human caspase-4 in endotoxin sensitivity. Journal of Immunology (Baltimore, Md. : 1950). 193: 335-43. PMID 24879791 DOI: 10.4049/jimmunol.1303424  1
2014 Berko ER, Suzuki M, Beren F, Lemetre C, Alaimo CM, Calder RB, Ballaban-Gil K, Gounder B, Kampf K, Kirschen J, Maqbool SB, Momin Z, Reynolds DM, Russo N, Shulman L, ... ... Buxbaum JD, et al. Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder. Plos Genetics. 10: e1004402. PMID 24875834 DOI: 10.1371/journal.pgen.1004402  1
2014 Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, ... ... Buxbaum JD, et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. American Journal of Human Genetics. 94: 677-94. PMID 24768552 DOI: 10.1016/j.ajhg.2014.03.018  0.52
2014 Smith RG, Fernandes C, Kember R, Schalkwyk LC, Buxbaum J, Reichenberg A, Mill J. Transcriptomic changes in the frontal cortex associated with paternal age. Molecular Autism. 5: 24. PMID 24655730 DOI: 10.1186/2040-2392-5-24  1
2014 Drapeau E, Dorr NP, Elder GA, Buxbaum JD. Absence of strong strain effects in behavioral analyses of Shank3-deficient mice. Disease Models & Mechanisms. 7: 667-81. PMID 24652766 DOI: 10.1242/dmm.013821  1
2014 Tavassoli T, Kolevzon A, Wang AT, Curchack-Lichtin J, Halpern D, Schwartz L, Soffes S, Bush L, Grodberg D, Cai G, Buxbaum JD. De novo SCN2A splice site mutation in a boy with Autism spectrum disorder. Bmc Medical Genetics. 15: 35. PMID 24650168 DOI: 10.1186/1471-2350-15-35  1
2014 Liu L, Lei J, Sanders SJ, Willsey AJ, Kou Y, Cicek AE, Klei L, Lu C, He X, Li M, Muhle RA, Ma'ayan A, Noonan JP, Sestan N, McFadden KA, ... ... Buxbaum JD, et al. DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics. Molecular Autism. 5: 22. PMID 24602502 DOI: 10.1186/2040-2392-5-22  1
2014 Uppal N, Gianatiempo I, Wicinski B, Schmeidler J, Heinsen H, Schmitz C, Buxbaum JD, Hof PR. Neuropathology of the posteroinferior occipitotemporal gyrus in children with autism. Molecular Autism. 5: 17. PMID 24564936 DOI: 10.1186/2040-2392-5-17  1
2014 Ionita-Laza I, Xu B, Makarov V, Buxbaum JD, Roos JL, Gogos JA, Karayiorgou M. Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism. Proceedings of the National Academy of Sciences of the United States of America. 111: 343-8. PMID 24344280 DOI: 10.1073/pnas.1309475110  1
2014 Grodberg D, Weinger PM, Halpern D, Parides M, Kolevzon A, Buxbaum JD. The autism mental status exam: sensitivity and specificity using DSM-5 criteria for autism spectrum disorder in verbally fluent adults. Journal of Autism and Developmental Disorders. 44: 609-14. PMID 23989909 DOI: 10.1007/s10803-013-1917-5  1
2013 Buxbaum JD, Baron-Cohen S. Capping four years of growth of Molecular Autism: impact factor coming in 2014. Molecular Autism. 4: 50. PMID 24341929 DOI: 10.1186/2040-2392-4-50  1
2013 Yehuda R, Daskalakis NP, Desarnaud F, Makotkine I, Lehrner AL, Koch E, Flory JD, Buxbaum JD, Meaney MJ, Bierer LM. Epigenetic Biomarkers as Predictors and Correlates of Symptom Improvement Following Psychotherapy in Combat Veterans with PTSD. Frontiers in Psychiatry. 4: 118. PMID 24098286 DOI: 10.3389/fpsyt.2013.00118  1
2013 Poultney CS, Goldberg AP, Drapeau E, Kou Y, Harony-Nicolas H, Kajiwara Y, De Rubeis S, Durand S, Stevens C, Rehnström K, Palotie A, Daly MJ, Ma'ayan A, Fromer M, Buxbaum JD. Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. American Journal of Human Genetics. 93: 607-19. PMID 24094742 DOI: 10.1016/j.ajhg.2013.09.001  1
2013 Ozomaro U, Cai G, Kajiwara Y, Yoon S, Makarov V, Delorme R, Betancur C, Ruhrmann S, Falkai P, Grabe HJ, Maier W, Wagner M, Lennertz L, Moessner R, Murphy DL, ... Buxbaum JD, et al. Characterization of SLITRK1 variation in obsessive-compulsive disorder. Plos One. 8: e70376. PMID 23990902 DOI: 10.1371/journal.pone.0070376  1
2013 Hamilton PJ, Campbell NG, Sharma S, Erreger K, Herborg Hansen F, Saunders C, Belovich AN, Sahai MA, Cook EH, Gether U, McHaourab HS, Matthies HJ, Sutcliffe JS, Galli A. De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder. Molecular Psychiatry. 18: 1315-23. PMID 23979605 DOI: 10.1038/mp.2013.102  1
2013 He X, Sanders SJ, Liu L, De Rubeis S, Lim ET, Sutcliffe JS, Schellenberg GD, Gibbs RA, Daly MJ, Buxbaum JD, State MW, Devlin B, Roeder K. Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. Plos Genetics. 9: e1003671. PMID 23966865 DOI: 10.1371/journal.pgen.1003671  1
2013 Martí-Massó JF, Bergareche A, Makarov V, Ruiz-Martinez J, Gorostidi A, López de Munain A, Poza JJ, Striano P, Buxbaum JD, Paisán-Ruiz C. The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. Journal of Molecular Medicine (Berlin, Germany). 91: 1399-406. PMID 23955123 DOI: 10.1007/s00109-013-1075-4  1
2013 Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, ... ... Buxbaum JD, et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics. 45: 984-94. PMID 23933821 DOI: 10.1038/ng.2711  1
2013 Krebs CE, Karkheiran S, Powell JC, Cao M, Makarov V, Darvish H, Di Paolo G, Walker RH, Shahidi GA, Buxbaum JD, De Camilli P, Yue Z, Paisán-Ruiz C. The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. Human Mutation. 34: 1200-7. PMID 23804563 DOI: 10.1002/humu.22372  1
2013 Soorya L, Kolevzon A, Zweifach J, Lim T, Dobry Y, Schwartz L, Frank Y, Wang AT, Cai G, Parkhomenko E, Halpern D, Grodberg D, Angarita B, Willner JP, Yang A, ... ... Buxbaum JD, et al. Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Molecular Autism. 4: 18. PMID 23758760 DOI: 10.1186/2040-2392-4-18  1
2013 Betancur C, Buxbaum JD. SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders. Molecular Autism. 4: 17. PMID 23758743 DOI: 10.1186/2040-2392-4-17  1
2013 Noh HJ, Ponting CP, Boulding HC, Meader S, Betancur C, Buxbaum JD, Pinto D, Marshall CR, Lionel AC, Scherer SW, Webber C. Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism. Plos Genetics. 9: e1003523. PMID 23754953 DOI: 10.1371/journal.pgen.1003523  1
2013 Schafer CM, Campbell NG, Cai G, Yu F, Makarov V, Yoon S, Daly MJ, Gibbs RA, Schellenberg GD, Devlin B, Sutcliffe JS, Buxbaum JD, Roeder K. Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA. Genomics. 102: 270-7. PMID 23743231 DOI: 10.1016/j.ygeno.2013.05.005  1
2013 Ionita-Laza I, Lee S, Makarov V, Buxbaum JD, Lin X. Sequence kernel association tests for the combined effect of rare and common variants. American Journal of Human Genetics. 92: 841-53. PMID 23684009 DOI: 10.1016/j.ajhg.2013.04.015  1
2013 Buxbaum JD, Baron-Cohen S. DSM-5: the debate continues. Molecular Autism. 4: 11. PMID 23676181 DOI: 10.1186/2040-2392-4-11  1
2013 Bozdagi O, Tavassoli T, Buxbaum JD. Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay. Molecular Autism. 4: 9. PMID 23621888 DOI: 10.1186/2040-2392-4-9  1
2013 Liu L, Sabo A, Neale BM, Nagaswamy U, Stevens C, Lim E, Bodea CA, Muzny D, Reid JG, Banks E, Coon H, Depristo M, Dinh H, Fennel T, Flannick J, ... ... Buxbaum JD, et al. Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. Plos Genetics. 9: e1003443. PMID 23593035 DOI: 10.1371/journal.pgen.1003443  1
2013 Reitz C, Jun G, Naj A, Rajbhandary R, Vardarajan BN, Wang LS, Valladares O, Lin CF, Larson EB, Graff-Radford NR, Evans D, De Jager PL, Crane PK, Buxbaum JD, Murrell JR, et al. Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans. Jama. 309: 1483-92. PMID 23571587 DOI: 10.1001/jama.2013.2973  1
2013 Smith JJ, Kuraku S, Holt C, Sauka-Spengler T, Jiang N, Campbell MS, Yandell MD, Manousaki T, Meyer A, Bloom OE, Morgan JR, Buxbaum JD, Sachidanandam R, Sims C, Garruss AS, et al. Sequencing of the sea lamprey (Petromyzon marinus) genome provides insights into vertebrate evolution. Nature Genetics. 45: 415-21, 421e1-2. PMID 23435085 DOI: 10.1038/ng.2568  1
2013 Ionita-Laza I, Lee S, Makarov V, Buxbaum JD, Lin X. Family-based association tests for sequence data, and comparisons with population-based association tests. European Journal of Human Genetics : Ejhg. 21: 1158-62. PMID 23386037 DOI: 10.1038/ejhg.2012.308  1
2013 Glessner JT, Smith AV, Panossian S, Kim CE, Takahashi N, Thomas KA, Wang F, Seidler K, Harris TB, Launer LJ, Keating B, Connolly J, Sleiman PM, Buxbaum JD, Grant SF, et al. Copy number variations in alternative splicing gene networks impact lifespan. Plos One. 8: e53846. PMID 23382853 DOI: 10.1371/journal.pone.0053846  1
2013 Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, ... ... Buxbaum JD, et al. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 77: 235-42. PMID 23352160 DOI: 10.1016/j.neuron.2012.12.029  1
2013 Karkheiran S, Krebs CE, Makarov V, Nilipour Y, Hubert B, Darvish H, Frucht S, Shahidi GA, Buxbaum JD, Paisán-Ruiz C. Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome. Human Genetics. 132: 275-83. PMID 23138527 DOI: 10.1007/s00439-012-1248-1  1
2013 Steele JW, Lachenmayer ML, Ju S, Stock A, Liken J, Kim SH, Delgado LM, Alfaro IE, Bernales S, Verdile G, Bharadwaj P, Gupta V, Barr R, Friss A, Dolios G, ... ... Buxbaum JD, et al. Latrepirdine improves cognition and arrests progression of neuropathology in an Alzheimer's mouse model. Molecular Psychiatry. 18: 889-97. PMID 22850627 DOI: 10.1038/mp.2012.106  1
2013 Smith RG, Reichenberg A, Kember RL, Buxbaum JD, Schalkwyk LC, Fernandes C, Mill J. Advanced paternal age is associated with altered DNA methylation at brain-expressed imprinted loci in inbred mice: implications for neuropsychiatric disease. Molecular Psychiatry. 18: 635-6. PMID 22733127 DOI: 10.1038/mp.2012.88  1
2013 Buxbaum JD. Getting from 1,000 Genes to a Triad of Symptoms: The Emerging Role of Systems Biology in Autism Spectrum Disorders The Neuroscience of Autism Spectrum Disorders. 461-471. DOI: 10.1016/B978-0-12-391924-3.00034-X  1
2013 Harony H, Günal OB, Buxbaum JD. SHANK2 and SHANK3 Mutations Implicate Glutamate Signaling Abnormalities in Autism Spectrum Disorders The Neuroscience of Autism Spectrum Disorders. 437-448. DOI: 10.1016/B978-0-12-391924-3.00032-6  1
2013 Cai G, Buxbaum JD. Next-Generation Sequencing For Gene and Pathway Discovery and Analysis in Autism Spectrum Disorders The Neuroscience of Autism Spectrum Disorders. 169-177. DOI: 10.1016/B978-0-12-391924-3.00011-9  1
2013 Buxbaum JD, Hof PR. The Neuroscience of Autism Spectrum Disorders The Neuroscience of Autism Spectrum Disorders 1
2012 Buxbaum JD, Daly MJ, Devlin B, Lehner T, Roeder K, State MW. The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders. Neuron. 76: 1052-6. PMID 23259942 DOI: 10.1016/j.neuron.2012.12.008  1
2012 Whitcomb DC, LaRusch J, Krasinskas AM, Klei L, Smith JP, Brand RE, Neoptolemos JP, Lerch MM, Tector M, Sandhu BS, Guda NM, Orlichenko L, Alkaade S, Amann ST, et al. Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. Nature Genetics. 44: 1349-54. PMID 23143602 DOI: 10.1038/ng.2466  1
2012 Bozdagi O, Sakurai T, Dorr N, Pilorge M, Takahashi N, Buxbaum JD. Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice. Plos One. 7: e42422. PMID 22900020 DOI: 10.1371/journal.pone.0042422  1
2012 Kurita M, Holloway T, García-Bea A, Kozlenkov A, Friedman AK, Moreno JL, Heshmati M, Golden SA, Kennedy PJ, Takahashi N, Dietz DM, Mocci G, Gabilondo AM, Hanks J, Umali A, ... ... Buxbaum JD, et al. HDAC2 regulates atypical antipsychotic responses through the modulation of mGlu2 promoter activity. Nature Neuroscience. 15: 1245-54. PMID 22864611 DOI: 10.1038/nn.3181  1
2012 Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, ... ... Buxbaum JD, et al. Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Human Molecular Genetics. 21: 4781-92. PMID 22843504 DOI: 10.1093/hmg/dds301  0.32
2012 Ionita-Laza I, Makarov V, Buxbaum JD. Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets. American Journal of Human Genetics. 90: 1002-13. PMID 22578327 DOI: 10.1016/j.ajhg.2012.04.010  1
2012 Yang M, Bozdagi O, Scattoni ML, Wöhr M, Roullet FI, Katz AM, Abrams DN, Kalikhman D, Simon H, Woldeyohannes L, Zhang JY, Harris MJ, Saxena R, Silverman JL, Buxbaum JD, et al. Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 32: 6525-41. PMID 22573675 DOI: 10.1523/JNEUROSCI.6107-11.2012  1
2012 Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, ... ... Buxbaum JD, et al. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proceedings of the National Academy of Sciences of the United States of America. 109: 7974-81. PMID 22566635 DOI: 10.1073/pnas.1120210109  1
2012 Kou Y, Betancur C, Xu H, Buxbaum JD, Ma'ayan A. Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 160: 130-42. PMID 22499558 DOI: 10.1002/ajmg.c.31330  1
2012 Keilani S, Lun Y, Stevens AC, Williams HN, Sjoberg ER, Khanna R, Valenzano KJ, Checler F, Buxbaum JD, Yanagisawa K, Lockhart DJ, Wustman BA, Gandy S. Lysosomal dysfunction in a mouse model of Sandhoff disease leads to accumulation of ganglioside-bound amyloid-β peptide. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 32: 5223-36. PMID 22496568 DOI: 10.1523/JNEUROSCI.4860-11.2012  1
2012 Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, ... ... Buxbaum JD, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 485: 242-5. PMID 22495311 DOI: 10.1038/nature11011  1
2012 Brandt T, Desai K, Grodberg D, Mehta L, Cohen N, Tryfon A, Kolevzon A, Soorya L, Buxbaum JD, Edelmann L. Complex autism spectrum disorder in a patient with a 17q12 microduplication. American Journal of Medical Genetics. Part A. 158: 1170-7. PMID 22488896 DOI: 10.1002/ajmg.a.35267  1
2012 Buxbaum JD, Betancur C, Bozdagi O, Dorr NP, Elder GA, Hof PR. 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. Molecular Autism. 3: 1. PMID 22348382 DOI: 10.1186/2040-2392-3-1  1
2012 Makarov V, O'Grady T, Cai G, Lihm J, Buxbaum JD, Yoon S. AnnTools: a comprehensive and versatile annotation toolkit for genomic variants. Bioinformatics (Oxford, England). 28: 724-5. PMID 22257670 DOI: 10.1093/bioinformatics/bts032  1
2012 Puleo CM, Schmeidler J, Reichenberg A, Kolevzon A, Soorya LV, Buxbaum JD, Silverman JM. Advancing paternal age and simplex autism. Autism : the International Journal of Research and Practice. 16: 367-80. PMID 22180389 DOI: 10.1177/1362361311427154  1
2012 Elia J, Glessner JT, Wang K, Takahashi N, Shtir CJ, Hadley D, Sleiman PM, Zhang H, Kim CE, Robison R, Lyon GJ, Flory JH, Bradfield JP, Imielinski M, Hou C, ... ... Buxbaum JD, et al. Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nature Genetics. 44: 78-84. PMID 22138692 DOI: 10.1038/ng.1013  1
2012 Casey JP, Magalhaes T, Conroy JM, Regan R, Shah N, Anney R, Shields DC, Abrahams BS, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, ... ... Buxbaum JD, et al. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Human Genetics. 131: 565-79. PMID 21996756 DOI: 10.1007/s00439-011-1094-6  0.32
2012 Marti-Masso JF, Ruiz-Martínez J, Makarov V, López de Munain A, Gorostidi A, Bergareche A, Yoon S, Buxbaum JD, Paisán-Ruiz C. Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. Human Genetics. 131: 435-42. PMID 21912879 DOI: 10.1007/s00439-011-1086-6  1
2012 Grodberg D, Weinger PM, Kolevzon A, Soorya L, Buxbaum JD. Brief report: the Autism Mental Status Examination: development of a brief autism-focused exam. Journal of Autism and Developmental Disorders. 42: 455-9. PMID 21519955 DOI: 10.1007/s10803-011-1255-4  1
2012 Vavolizza RD, Schmeidler J, Ramoz N, Buxbaum JD, Smith CJ, Silverman JM. The effect of an autism-associated polymorphism in the STK39 gene on the autism symptom domains. Journal of Autism and Developmental Disorders. 42: 319-20. PMID 21442361 DOI: 10.1007/s10803-011-1226-9  1
2012 Gai X, Xie HM, Perin JC, Takahashi N, Murphy K, Wenocur AS, D'arcy M, O'Hara RJ, Goldmuntz E, Grice DE, Shaikh TH, Hakonarson H, Buxbaum JD, Elia J, White PS. Rare structural variation of synapse and neurotransmission genes in autism. Molecular Psychiatry. 17: 402-11. PMID 21358714 DOI: 10.1038/mp.2011.10  1
2012 Cai G, Atzmon G, Naj AC, Beecham GW, Barzilai N, Haines JL, Sano M, Pericak-Vance M, Buxbaum JD. Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer disease. Neurobiology of Aging. 33: 416-417.e3. PMID 20381196 DOI: 10.1016/j.neurobiolaging.2010.03.003  1
2012 Ionita-Laza I, Buxbaum JD. Response to Ott and Hoh American Journal of Human Genetics. 91: 970-971. DOI: 10.1016/j.ajhg.2012.09.014  1
2011 Takahashi N, Sakurai T, Bozdagi-Gunal O, Dorr NP, Moy J, Krug L, Gama-Sosa M, Elder GA, Koch RJ, Walker RH, Hof PR, Davis KL, Buxbaum JD. Increased expression of receptor phosphotyrosine phosphatase-β/ζ is associated with molecular, cellular, behavioral and cognitive schizophrenia phenotypes. Translational Psychiatry. 1: e8. PMID 22832403 DOI: 10.1038/tp.2011.8  1
2011 Grabrucker AM, Schmeisser MJ, Udvardi PT, Arons M, Schoen M, Woodling NS, Andreasson KI, Hof PR, Buxbaum JD, Garner CC, Boeckers TM. Amyloid beta protein-induced zinc sequestration leads to synaptic loss via dysregulation of the ProSAP2/Shank3 scaffold. Molecular Neurodegeneration. 6: 65. PMID 21939532 DOI: 10.1186/1750-1326-6-65  1
2011 Smith J, Morgan JR, Zottoli SJ, Smith PJ, Buxbaum JD, Bloom OE. Regeneration in the era of functional genomics and gene network analysis. The Biological Bulletin. 221: 18-34. PMID 21876108  1
2011 Jang C, Choi JK, Na YJ, Jang B, Wasco W, Buxbaum JD, Kim YS, Choi EK. Calsenilin regulates presenilin 1/γ-secretase-mediated N-cadherin ε-cleavage and β-catenin signaling. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 25: 4174-83. PMID 21852538 DOI: 10.1096/fj.11-185926  1
2011 Takahashi N, Nielsen KS, Aleksic B, Petersen S, Ikeda M, Kushima I, Vacaresse N, Ujike H, Iwata N, Dubreuil V, Mirza N, Sakurai T, Ozaki N, Buxbaum JD, Sap J. Loss of function studies in mice and genetic association link receptor protein tyrosine phosphatase α to schizophrenia. Biological Psychiatry. 70: 626-35. PMID 21831360 DOI: 10.1016/j.biopsych.2011.06.016  1
2011 Buxbaum JD, Sklar P. Human induced pluripotent stem cells: a new model for schizophrenia? Cell Stem Cell. 8: 461-2. PMID 21549318 DOI: 10.1016/j.stem.2011.04.016  1
2011 Anney RJ, Kenny EM, O'Dushlaine C, Yaspan BL, Parkhomenka E, Buxbaum JD, Sutcliffe J, Gill M, Gallagher L, Buxbaum JD, Sutcliffe J, Gill M, Gallagher L. Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders. European Journal of Human Genetics : Ejhg. 19: 1082-9. PMID 21522181 DOI: 10.1038/ejhg.2011.75  1
2011 Sarapas C, Cai G, Bierer LM, Golier JA, Galea S, Ising M, Rein T, Schmeidler J, Müller-Myhsok B, Uhr M, Holsboer F, Buxbaum JD, Yehuda R. Genetic markers for PTSD risk and resilience among survivors of the World Trade Center attacks. Disease Markers. 30: 101-10. PMID 21508514 DOI: 10.3233/DMA-2011-0764  1
2011 Allen-Brady K, Cai G, Cannon D, Robison R, McMahon WM, Coon H, Buxbaum JD. No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set. Autism Research : Official Journal of the International Society For Autism Research. 4: 293-6. PMID 21491612 DOI: 10.1002/aur.195  1
2011 Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, Gallins PJ, Buxbaum JD, Jarvik GP, Crane PK, Larson EB, Bird TD, Boeve BF, Graff-Radford NR, De Jager PL, et al. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nature Genetics. 43: 436-41. PMID 21460841 DOI: 10.1038/ng.801  1
2011 Buxbaum JD, Hof PR. The emerging neuroscience of autism spectrum disorders. Brain Research. 1380: 1-2. PMID 21356391 DOI: 10.1016/j.brainres.2011.02.030  1
2011 Sakurai T, Dorr NP, Takahashi N, McInnes LA, Elder GA, Buxbaum JD. Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions. Autism Research : Official Journal of the International Society For Autism Research. 4: 28-39. PMID 21328569 DOI: 10.1002/aur.169  1
2011 Ionita-Laza I, Buxbaum JD, Laird NM, Lange C. A new testing strategy to identify rare variants with either risk or protective effect on disease. Plos Genetics. 7: e1001289. PMID 21304886 DOI: 10.1371/journal.pgen.1001289  1
2011 Züchner S, Dallman J, Wen R, Beecham G, Naj A, Farooq A, Kohli MA, Whitehead PL, Hulme W, Konidari I, Edwards YJ, Cai G, Peter I, Seo D, Buxbaum JD, et al. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. American Journal of Human Genetics. 88: 201-6. PMID 21295283 DOI: 10.1016/j.ajhg.2011.01.001  1
2011 Jang C, Choi JK, Kim E, Park ES, Wasco W, Buxbaum JD, Kim YS, Choi EK. Calsenilin is degraded by the ubiquitin-proteasome pathway. Biochemical and Biophysical Research Communications. 405: 180-5. PMID 21216226 DOI: 10.1016/j.bbrc.2010.12.137  1
2011 Bernardi S, Anagnostou E, Shen J, Kolevzon A, Buxbaum JD, Hollander E, Hof PR, Fan J. In vivo 1H-magnetic resonance spectroscopy study of the attentional networks in autism. Brain Research. 1380: 198-205. PMID 21185269 DOI: 10.1016/j.brainres.2010.12.057  1
2011 Kolevzon A, Cai G, Soorya L, Takahashi N, Grodberg D, Kajiwara Y, Willner JP, Tryfon A, Buxbaum JD. Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities. Brain Research. 1380: 98-105. PMID 21062623 DOI: 10.1016/j.brainres.2010.11.005  1
2011 Takahashi N, Sakurai T, Davis KL, Buxbaum JD. Linking oligodendrocyte and myelin dysfunction to neurocircuitry abnormalities in schizophrenia. Progress in Neurobiology. 93: 13-24. PMID 20950668 DOI: 10.1016/j.pneurobio.2010.09.004  1
2010 De Gasperi R, Gama Sosa MA, Naumowicz Z, Hof PR, Notterpek L, Davis KL, Buxbaum JD, Elder GA. PERIPHERAL MYELIN PROTEIN-22 IS EXPRESSED IN CNS MYELIN. Translational Neuroscience. 1: 282-285. PMID 21572910 DOI: 10.2478/v10134-010-0038-3  1
2010 Bozdagi O, Sakurai T, Papapetrou D, Wang X, Dickstein DL, Takahashi N, Kajiwara Y, Yang M, Katz AM, Scattoni ML, Harris MJ, Saxena R, Silverman JL, Crawley JN, Zhou Q, ... ... Buxbaum JD, et al. Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication. Molecular Autism. 1: 15. PMID 21167025 DOI: 10.1186/2040-2392-1-15  1
2010 Glessner JT, Bradfield JP, Wang K, Takahashi N, Zhang H, Sleiman PM, Mentch FD, Kim CE, Hou C, Thomas KA, Garris ML, Deliard S, Frackelton EC, Otieno FG, Zhao J, ... ... Buxbaum JD, et al. A genome-wide study reveals copy number variants exclusive to childhood obesity cases. American Journal of Human Genetics. 87: 661-6. PMID 20950786 DOI: 10.1016/j.ajhg.2010.09.014  1
2010 Naj AC, Beecham GW, Martin ER, Gallins PJ, Powell EH, Konidari I, Whitehead PL, Cai G, Haroutunian V, Scott WK, Vance JM, Slifer MA, Gwirtsman HE, Gilbert JR, Haines JL, ... Buxbaum JD, et al. Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. Plos Genetics. 6: e1001130. PMID 20885792 DOI: 10.1371/journal.pgen.1001130  1
2010 Jun G, Naj AC, Beecham GW, Wang LS, Buros J, Gallins PJ, Buxbaum JD, Ertekin-Taner N, Fallin MD, Friedland R, Inzelberg R, Kramer P, Rogaeva E, St George-Hyslop P, et al. Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Archives of Neurology. 67: 1473-84. PMID 20697030 DOI: 10.1001/archneurol.2010.201  1
2010 Buxbaum JD, Baron-Cohen S, Devlin B. Genetics in psychiatry: common variant association studies. Molecular Autism. 1: 6. PMID 20678248 DOI: 10.1186/2040-2392-1-6  1
2010 McInnes LA, Nakamine A, Pilorge M, Brandt T, Jiménez González P, Fallas M, Manghi ER, Edelmann L, Glessner J, Hakonarson H, Betancur C, Buxbaum JD. A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. Molecular Autism. 1: 5. PMID 20678247 DOI: 10.1186/2040-2392-1-5  0.4
2010 Buxbaum JD, Baron-Cohen S. Molecular Autism: accelerating and integrating research into neurodevelopmental conditions. Molecular Autism. 1: 1. PMID 20678244 DOI: 10.1186/2040-2392-1-1  1
2010 Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, ... ... Buxbaum JD, et al. A genome-wide scan for common alleles affecting risk for autism. Human Molecular Genetics. 19: 4072-82. PMID 20663923 DOI: 10.1093/hmg/ddq307  0.32
2010 Sharman MJ, Morici M, Hone E, Berger T, Taddei K, Martins IJ, Lim WL, Singh S, Wenk MR, Ghiso J, Buxbaum JD, Gandy S, Martins RN. APOE genotype results in differential effects on the peripheral clearance of amyloid-beta42 in APOE knock-in and knock-out mice. Journal of Alzheimer's Disease : Jad. 21: 403-9. PMID 20555142 DOI: 10.3233/JAD-2010-100141  1
2010 Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, ... ... Buxbaum JD, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 466: 368-72. PMID 20531469 DOI: 10.1038/nature09146  0.32
2010 Beecham GW, Naj AC, Gilbert JR, Haines JL, Buxbaum JD, Pericak-Vance MA. PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility. Psychiatric Genetics. 20: 321-4. PMID 20523261 DOI: 10.1097/YPG.0b013e32833b635d  1
2010 Glessner JT, Reilly MP, Kim CE, Takahashi N, Albano A, Hou C, Bradfield JP, Zhang H, Sleiman PM, Flory JH, Imielinski M, Frackelton EC, Chiavacci R, Thomas KA, Garris M, ... ... Buxbaum JD, et al. Strong synaptic transmission impact by copy number variations in schizophrenia. Proceedings of the National Academy of Sciences of the United States of America. 107: 10584-9. PMID 20489179 DOI: 10.1073/pnas.1000274107  1
2010 Kajiwara Y, Franciosi S, Takahashi N, Krug L, Schmeidler J, Taddei K, Haroutunian V, Fried U, Ehrlich M, Martins RN, Gandy S, Buxbaum JD. Extensive proteomic screening identifies the obesity-related NYGGF4 protein as a novel LRP1-interactor, showing reduced expression in early Alzheimer's disease. Molecular Neurodegeneration. 5: 1. PMID 20205790 DOI: 10.1186/1750-1326-5-1  1
2010 Hof PR, Elder GA. Introduction to the special issue of brain structure and function on transgenic modeling of neurodegenerative disorders. Brain Structure & Function. 214: 89-90. PMID 20169361 DOI: 10.1007/s00429-010-0243-3  1
2010 Sharman MJ, Shui G, Fernandis AZ, Lim WL, Berger T, Hone E, Taddei K, Martins IJ, Ghiso J, Buxbaum JD, Gandy S, Wenk MR, Martins RN. Profiling brain and plasma lipids in human APOE epsilon2, epsilon3, and epsilon4 knock-in mice using electrospray ionization mass spectrometry. Journal of Alzheimer's Disease : Jad. 20: 105-11. PMID 20164599 DOI: 10.3233/JAD-2010-1348  1
2010 Li X, Patel JC, Wang J, Avshalumov MV, Nicholson C, Buxbaum JD, Elder GA, Rice ME, Yue Z. Enhanced striatal dopamine transmission and motor performance with LRRK2 overexpression in mice is eliminated by familial Parkinson's disease mutation G2019S. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 30: 1788-97. PMID 20130188 DOI: 10.1523/JNEUROSCI.5604-09.2010  1
2010 Sakurai T, Ramoz N, Barreto M, Gazdoiu M, Takahashi N, Gertner M, Dorr N, Gama Sosa MA, De Gasperi R, Perez G, Schmeidler J, Mitropoulou V, Le HC, Lupu M, Hof PR, ... ... Buxbaum JD, et al. Slc25a12 disruption alters myelination and neurofilaments: a model for a hypomyelination syndrome and childhood neurodevelopmental disorders. Biological Psychiatry. 67: 887-94. PMID 20015484 DOI: 10.1016/j.biopsych.2009.08.042  1
2010 Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F, Reichert J, Cai G, Buxbaum JD, et al. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. Molecular Psychiatry. 15: 954-68. PMID 19401682 DOI: 10.1038/mp.2009.34  1
2009 Smith RG, Kember RL, Mill J, Fernandes C, Schalkwyk LC, Buxbaum JD, Reichenberg A. Advancing paternal age is associated with deficits in social and exploratory behaviors in the offspring: a mouse model. Plos One. 4: e8456. PMID 20041141 DOI: 10.1371/journal.pone.0008456  1
2009 Franciosi S, Gama Sosa MA, English DF, Oler E, Oung T, Janssen WG, De Gasperi R, Schmeidler J, Dickstein DL, Schmitz C, Gandy S, Hof PR, Buxbaum JD, Elder GA. Novel cerebrovascular pathology in mice fed a high cholesterol diet. Molecular Neurodegeneration. 4: 42. PMID 19852847 DOI: 10.1186/1750-1326-4-42  1
2009 Pedrini S, Thomas C, Brautigam H, Schmeidler J, Ho L, Fraser P, Westaway D, Hyslop PS, Martins RN, Buxbaum JD, Pasinetti GM, Dickstein DL, Hof PR, Ehrlich ME, Gandy S. Dietary composition modulates brain mass and solubilizable Abeta levels in a mouse model of aggressive Alzheimer's amyloid pathology. Molecular Neurodegeneration. 4: 40. PMID 19845940 DOI: 10.1186/1750-1326-4-40  1
2009 Weiss LA, Arking DE, Daly MJ, Chakravarti A, Brune CW, West K, O'Connor A, Hilton G, Tomlinson RL, West AB, Cook EH, Green T, Chang SC, Gabriel S, Gates C, ... ... Buxbaum JD, et al. A genome-wide linkage and association scan reveals novel loci for autism Nature. 461: 802-808. PMID 19812673 DOI: 10.1038/nature08490  1
2009 Kajiwara Y, Buxbaum JD, Grice DE. SLITRK1 binds 14-3-3 and regulates neurite outgrowth in a phosphorylation-dependent manner. Biological Psychiatry. 66: 918-25. PMID 19640509 DOI: 10.1016/j.biopsych.2009.05.033  1
2009 Höistad M, Segal D, Takahashi N, Sakurai T, Buxbaum JD, Hof PR. Linking white and grey matter in schizophrenia: oligodendrocyte and neuron pathology in the prefrontal cortex. Frontiers in Neuroanatomy. 3: 9. PMID 19636386 DOI: 10.3389/neuro.05.009.2009  1
2009 Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, ... ... Buxbaum JD, et al. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. Plos Genetics. 5: e1000536. PMID 19557195 DOI: 10.1371/journal.pgen.1000536  1
2009 Betancur C, Sakurai T, Buxbaum JD. The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders. Trends in Neurosciences. 32: 402-12. PMID 19541375 DOI: 10.1016/j.tins.2009.04.003  1
2009 Buxbaum JD. Multiple rare variants in the etiology of autism spectrum disorders. Dialogues in Clinical Neuroscience. 11: 35-43. PMID 19432386  1
2009 Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, ... ... Buxbaum JD, et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature. 459: 569-73. PMID 19404257 DOI: 10.1038/nature07953  1
2009 Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, ... ... Buxbaum JD, et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature. 459: 528-33. PMID 19404256 DOI: 10.1038/nature07999  1
2009 Yehuda R, Cai G, Golier JA, Sarapas C, Galea S, Ising M, Rein T, Schmeidler J, Müller-Myhsok B, Holsboer F, Buxbaum JD. Gene expression patterns associated with posttraumatic stress disorder following exposure to the World Trade Center attacks. Biological Psychiatry. 66: 708-11. PMID 19393990 DOI: 10.1016/j.biopsych.2009.02.034  1
2009 Kajiwara Y, Akram A, Katsel P, Haroutunian V, Schmeidler J, Beecham G, Haines JL, Pericak-Vance MA, Buxbaum JD. FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4. Plos One. 4: e5071. PMID 19343227 DOI: 10.1371/journal.pone.0005071  1
2009 Cichon S, Craddock N, Daly M, Faraone SV, Gejman PV, Kelsoe J, Lehner T, Levinson DF, Moran A, Sklar P, Sullivan PF. Genomewide association studies: history, rationale, and prospects for psychiatric disorders. The American Journal of Psychiatry. 166: 540-56. PMID 19339359 DOI: 10.1176/appi.ajp.2008.08091354  1
2009 Qin W, Haroutunian V, Katsel P, Cardozo CP, Ho L, Buxbaum JD, Pasinetti GM. PGC-1alpha expression decreases in the Alzheimer disease brain as a function of dementia. Archives of Neurology. 66: 352-61. PMID 19273754 DOI: 10.1001/archneurol.2008.588  1
2008 Sakurai T, Reichert J, Hoffman EJ, Cai G, Jones HB, Faham M, Buxbaum JD. A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders. Autism Research : Official Journal of the International Society For Autism Research. 1: 251-7. PMID 19360675 DOI: 10.1002/aur.30  1
2008 Cai G, Edelmann L, Goldsmith JE, Cohen N, Nakamine A, Reichert JG, Hoffman EJ, Zurawiecki DM, Silverman JM, Hollander E, Soorya L, Anagnostou E, Betancur C, Buxbaum JD. 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. Bmc Medical Genomics. 1: 50. PMID 18925931 DOI: 10.1186/1755-8794-1-50  0.44
2008 Elder GA, Ragnauth A, Dorr N, Franciosi S, Schmeidler J, Haroutunian V, Buxbaum JD. Increased locomotor activity in mice lacking the low-density lipoprotein receptor. Behavioural Brain Research. 191: 256-65. PMID 18466986 DOI: 10.1016/j.bbr.2008.03.036  1
2008 Ramoz N, Cai G, Reichert JG, Silverman JM, Buxbaum JD. An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 147: 1152-8. PMID 18348195 DOI: 10.1002/ajmg.b.30739  1
2008 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. Molecular Psychiatry. 13: 385-97. PMID 18180767 DOI: 10.1038/sj.mp.4002120  1
2008 Silverman JM, Buxbaum JD, Ramoz N, Schmeidler J, Reichenberg A, Hollander E, Angelo G, Smith CJ, Kryzak LA. Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 147: 408-10. PMID 17894412 DOI: 10.1002/ajmg.b.30614  1
2008 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, et al. Molecular dissection of NRG1-ERBB4 signaling implicates PTPRZ1 as a potential schizophrenia susceptibility gene. Molecular Psychiatry. 13: 162-72. PMID 17579610 DOI: 10.1038/sj.mp.4001991  1
2008 Bartz JA, Young LJ, Hollander E, Buxbaum JD, Ring RH. Preclinical animal models of autistic spectrum disorders (ASD) Animal and Translational Models For Cns Drug Discovery. 1: 353-394. DOI: 10.1016/B978-0-12-373861-5.00011-4  1
2007 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 as phospho-state-sensitive modulators of phorbol/PKC-activated Alzheimer APP ectodomain shedding. Molecular Neurodegeneration. 2: 23. PMID 18067682 DOI: 10.1186/1750-1326-2-23  1
2007 Buxbaum JD, Cai G, Nygren G, Chaste P, Delorme R, Goldsmith J, RÃ¥stam M, Silverman JM, Hollander E, Gillberg C, Leboyer M, Betancur C. Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. Bmc Medical Genetics. 8: 68. PMID 18001468 DOI: 10.1186/1471-2350-8-68  1
2007 Elder GA, Cho JY, English DF, Franciosi S, Schmeidler J, Sosa MA, Gasperi RD, Fisher EA, Mathews PM, Haroutunian V, Buxbaum JD. Elevated plasma cholesterol does not affect brain Abeta in mice lacking the low-density lipoprotein receptor. Journal of Neurochemistry. 102: 1220-31. PMID 17472705 DOI: 10.1111/j.1471-4159.2007.04614.x  1
2007 Buxbaum JD, Cai G, Chaste P, Nygren G, Goldsmith J, Reichert J, Anckarsäter H, Rastam M, Smith CJ, Silverman JM, Hollander E, Leboyer M, Gillberg C, Verloes A, Betancur C. Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 144: 484-91. PMID 17427195 DOI: 10.1002/ajmg.b.30493  1
2007 Franciosi S, De Gasperi R, Dickstein DL, English DF, Rocher AB, Janssen WG, Christoffel D, Sosa MA, Hof PR, Buxbaum JD, Elder GA. Pepsin pretreatment allows collagen IV immunostaining of blood vessels in adult mouse brain. Journal of Neuroscience Methods. 163: 76-82. PMID 17403541 DOI: 10.1016/j.jneumeth.2007.02.020  1
2007 Ikin AF, Sabo SL, Lanier LM, Buxbaum JD. A macromolecular complex involving the amyloid precursor protein (APP) and the cytosolic adapter FE65 is a negative regulator of axon branching. Molecular and Cellular Neurosciences. 35: 57-63. PMID 17383198 DOI: 10.1016/j.mcn.2007.02.003  1
2007 Grice DE, Reenilä I, Männistö PT, Brooks AI, Smith GG, Golden GT, Buxbaum JD, Berrettini WH. Transcriptional profiling of C57 and DBA strains of mice in the absence and presence of morphine. Bmc Genomics. 8: 76. PMID 17367521 DOI: 10.1186/1471-2164-8-76  1
2007 Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, ... ... Buxbaum JD, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics. 39: 319-28. PMID 17322880 DOI: 10.1038/ng1985  1
2007 Zhao Z, Xiang Z, Haroutunian V, Buxbaum JD, Stetka B, Pasinetti GM. Insulin degrading enzyme activity selectively decreases in the hippocampal formation of cases at high risk to develop Alzheimer's disease. Neurobiology of Aging. 28: 824-30. PMID 16769157 DOI: 10.1016/j.neurobiolaging.2006.05.001  1
2007 Haroutunian V, Davies P, Vianna C, Buxbaum JD, Purohit DP. Tau protein abnormalities associated with the progression of alzheimer disease type dementia. Neurobiology of Aging. 28: 1-7. PMID 16343696 DOI: 10.1016/j.neurobiolaging.2005.11.001  1
2006 Sakurai T, Ramoz N, Reichert JG, Corwin TE, Kryzak L, Smith CJ, Silverman JM, Hollander E, Buxbaum JD. Association analysis of the NrCAM gene in autism and in subsets of families with severe obsessive-compulsive or self-stimulatory behaviors. Psychiatric Genetics. 16: 251-7. PMID 17106428 DOI: 10.1097/01.ypg.0000242196.81891.c9  1
2006 Grice DE, Buxbaum JD. The genetics of autism spectrum disorders. Neuromolecular Medicine. 8: 451-60. PMID 17028369 DOI: 10.1385/NMM:8:4:451  1
2006 Lauriat TL, Dracheva S, Kremerskothen J, Duning K, Haroutunian V, Buxbaum JD, Hyde TM, Kleinman JE, McInnes LA. Characterization of KIAA0513, a novel signaling molecule that interacts with modulators of neuroplasticity, apoptosis, and the cytoskeleton. Brain Research. 1121: 1-11. PMID 17010949 DOI: 10.1016/j.brainres.2006.08.099  1
2006 Ramoz N, Cai G, Reichert JG, Corwin TE, Kryzak LA, Smith CJ, Silverman JM, Hollander E, Buxbaum JD. Family-based association study of TPH1 and TPH2 polymorphisms in autism. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 141: 861-7. PMID 16958027 DOI: 10.1002/ajmg.b.30356  1
2006 Georgieva L, Moskvina V, Peirce T, Norton N, Bray NJ, Jones L, Holmans P, Macgregor S, Zammit S, Wilkinson J, Williams H, Nikolov I, Williams N, Ivanov D, Davis KL, ... ... Buxbaum JD, et al. Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophrenia. Proceedings of the National Academy of Sciences of the United States of America. 103: 12469-74. PMID 16891421 DOI: 10.1073/pnas.0603029103  1
2006 Zaidi NF, Kuplast KG, Washicosky KJ, Kajiwara Y, Buxbaum JD, Wasco W. Calsenilin interacts with transcriptional co-repressor C-terminal binding protein(s). Journal of Neurochemistry. 98: 1290-301. PMID 16787403 DOI: 10.1111/j.1471-4159.2006.03972.x  1
2006 Lamprianou S, Vacaresse N, Suzuki Y, Meziane H, Buxbaum JD, Schlessinger J, Harroch S. Receptor protein tyrosine phosphatase gamma is a marker for pyramidal cells and sensory neurons in the nervous system and is not necessary for normal development. Molecular and Cellular Biology. 26: 5106-19. PMID 16782895 DOI: 10.1128/MCB.00101-06  1
2006 Jacobson DA, Cho J, Landa LR, Tamarina NA, Roe MW, Buxbaum JD, Philipson LH. Downstream regulatory element antagonistic modulator regulates islet prodynorphin expression. American Journal of Physiology. Endocrinology and Metabolism. 291: E587-95. PMID 16621893 DOI: 10.1152/ajpendo.00612.2005  1
2006 Ramoz N, Reichert JG, Corwin TE, Smith CJ, Silverman JM, Hollander E, Buxbaum JD. Lack of evidence for association of the serotonin transporter gene SLC6A4 with autism. Biological Psychiatry. 60: 186-91. PMID 16616719 DOI: 10.1016/j.biopsych.2006.01.009  1
2006 Richler E, Reichert JG, Buxbaum JD, McInnes LA. Autism and ultraconserved non-coding sequence on chromosome 7q. Psychiatric Genetics. 16: 19-23. PMID 16395125 DOI: 10.1097/01.ypg.0000180683.18665.ef  1
2006 Peirce TR, Bray NJ, Williams NM, Norton N, Moskvina V, Preece A, Haroutunian V, Buxbaum JD, Owen MJ, O'Donovan MC. Convergent evidence for 2',3'-cyclic nucleotide 3'-phosphodiesterase as a possible susceptibility gene for schizophrenia. Archives of General Psychiatry. 63: 18-24. PMID 16389193 DOI: 10.1001/archpsyc.63.1.18  1
2006 Grice DE, Buxbaum JD. The genetic architecture of autism and related disorders Clinical Neuroscience Research. 6: 161-168. DOI: 10.1016/j.cnr.2006.06.004  1
2005 Faham M, Zheng J, Moorhead M, Fakhrai-Rad H, Namsaraev E, Wong K, Wang Z, Chow SG, Lee L, Suyenaga K, Reichert J, Boudreau A, Eberle J, Bruckner C, Jain M, ... ... Buxbaum JD, et al. Multiplexed variation scanning for 1,000 amplicons in hundreds of patients using mismatch repair detection (MRD) on tag arrays. Proceedings of the National Academy of Sciences of the United States of America. 102: 14717-22. PMID 16203980 DOI: 10.1073/pnas.0506677102  1
2005 Bespalova IN, Angelo GW, Durner M, Smith CJ, Siever LJ, Buxbaum JD, Silverman JM. Fine mapping of the 5p13 locus linked to schizophrenia and schizotypal personality disorder in a Puerto Rican family. Psychiatric Genetics. 15: 205-10. PMID 16094256 DOI: 10.1097/00041444-200509000-00012  1
2005 Shu W, Cho JY, Jiang Y, Zhang M, Weisz D, Elder GA, Schmeidler J, De Gasperi R, Sosa MA, Rabidou D, Santucci AC, Perl D, Morrisey E, Buxbaum JD. Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene. Proceedings of the National Academy of Sciences of the United States of America. 102: 9643-8. PMID 15983371 DOI: 10.1073/pnas.0503739102  1
2005 Jin JK, Choi JK, Wasco W, Buxbaum JD, Kozlowski PB, Carp RI, Kim YS, Choi EK. Expression of calsenilin in neurons and astrocytes in the Alzheimer's disease brain. Neuroreport. 16: 451-5. PMID 15770150 DOI: 10.1097/00001756-200504040-00007  1
2005 Bespalova IN, Reichert J, Buxbaum JD. Candidate susceptibility genes for Autism The Neurobiology of Autism. 217-232.  1
2004 Buckland PR, Hoogendoorn B, Guy CA, Coleman SL, Smith SK, Buxbaum JD, Haroutunian V, O'Donovan MC. A high proportion of polymorphisms in the promoters of brain expressed genes influences transcriptional activity. Biochimica Et Biophysica Acta. 1690: 238-49. PMID 15511631 DOI: 10.1016/j.bbadis.2004.06.023  1
2004 Bray NJ, Jehu L, Moskvina V, Buxbaum JD, Dracheva S, Haroutunian V, Williams J, Buckland PR, Owen MJ, O'Donovan MC. Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes. Human Molecular Genetics. 13: 2885-92. PMID 15385439 DOI: 10.1093/hmg/ddh299  1
2004 Buxbaum JD. A role for calsenilin and related proteins in multiple aspects of neuronal function. Biochemical and Biophysical Research Communications. 322: 1140-4. PMID 15336961 DOI: 10.1016/j.bbrc.2004.08.001  1
2004 Parvathy S, Ehrlich M, Pedrini S, Diaz N, Refolo L, Buxbaum JD, Bogush A, Petanceska S, Gandy S. Atorvastatin-induced activation of Alzheimer's alpha secretase is resistant to standard inhibitors of protein phosphorylation-regulated ectodomain shedding. Journal of Neurochemistry. 90: 1005-10. PMID 15287907 DOI: 10.1111/j.1471-4159.2004.02521.x  1
2004 Kolevzon A, Smith CJ, Schmeidler J, Buxbaum JD, Silverman JM. Familial symptom domains in monozygotic siblings with autism. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 129: 76-81. PMID 15274045 DOI: 10.1002/ajmg.b.30011  1
2004 Corfas G, Roy K, Buxbaum JD. Neuregulin 1-erbB signaling and the molecular/cellular basis of schizophrenia. Nature Neuroscience. 7: 575-80. PMID 15162166 DOI: 10.1038/nn1258  1
2004 Zaidi NF, Thomson EE, Choi EK, Buxbaum JD, Wasco W. Intracellular calcium modulates the nuclear translocation of calsenilin. Journal of Neurochemistry. 89: 593-601. PMID 15086516 DOI: 10.1046/j.1471-4159.2004.02362.x  1
2004 Pastorino L, Ikin AF, Lamprianou S, Vacaresse N, Revelli JP, Platt K, Paganetti P, Mathews PM, Harroch S, Buxbaum JD. BACE (beta-secretase) modulates the processing of APLP2 in vivo. Molecular and Cellular Neurosciences. 25: 642-9. PMID 15080893 DOI: 10.1016/j.mcn.2003.12.013  1
2004 Ramoz N, Reichert JG, Smith CJ, Silverman JM, Bespalova IN, Davis KL, Buxbaum JD. Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. The American Journal of Psychiatry. 161: 662-9. PMID 15056512 DOI: 10.1176/appi.ajp.161.4.662  1
2004 Buxbaum JD, Silverman J, Keddache M, Smith CJ, Hollander E, Ramoz N, Reichert JG. Linkage analysis for autism in a subset families with obsessive-compulsive behaviors: evidence for an autism susceptibility gene on chromosome 1 and further support for susceptibility genes on chromosome 6 and 19. Molecular Psychiatry. 9: 144-50. PMID 14699429 DOI: 10.1038/sj.mp.4001465  1
2003 Causevic M, Ramoz N, Haroutunian V, Davis KL, Buxbaum JD. Lack of association between the levels of the low-density lipoprotein receptor-related protein (LRP) and either Alzheimer dementia or LRP exon 3 genotype. Journal of Neuropathology and Experimental Neurology. 62: 999-1005. PMID 14575236  1
2003 Lilliehook C, Bozdagi O, Yao J, Gomez-Ramirez M, Zaidi NF, Wasco W, Gandy S, Santucci AC, Haroutunian V, Huntley GW, Buxbaum JD. Altered Abeta formation and long-term potentiation in a calsenilin knock-out. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 23: 9097-106. PMID 14534243  1
2003 Bespalova IN, Buxbaum JD. Disease susceptibility genes for autism. Annals of Medicine. 35: 274-81. PMID 12846270 DOI: 10.1080/07853890310005966  1
2003 Sabo SL, Ikin AF, Buxbaum JD, Greengard P. The amyloid precursor protein and its regulatory protein, FE65, in growth cones and synapses in vitro and in vivo. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 23: 5407-15. PMID 12843239  1
2003 Choi EK, Miller JS, Zaidi NF, Salih E, Buxbaum JD, Wasco W. Phosphorylation of calsenilin at Ser63 regulates its cleavage by caspase-3. Molecular and Cellular Neurosciences. 23: 495-506. PMID 12837631 DOI: 10.1016/S1044-7431(03)00072-1  1
2003 Vattemi G, Engel WK, McFerrin J, Pastorino L, Buxbaum JD, Askanas V. BACE1 and BACE2 in pathologic and normal human muscle. Experimental Neurology. 179: 150-8. PMID 12618121 DOI: 10.1016/S0014-4886(02)00025-0  1
2003 Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Molecular Psychiatry. 8: 186-94. PMID 12610651 DOI: 10.1038/sj.mp.4001241  1
2002 Hof PR, Haroutunian V, Copland C, Davis KL, Buxbaum JD. Molecular and cellular evidence for an oligodendrocyte abnormality in schizophrenia. Neurochemical Research. 27: 1193-200. PMID 12462417 DOI: 10.1023/A:1020981510759  1
2002 Harroch S, Furtado GC, Brueck W, Rosenbluth J, Lafaille J, Chao M, Buxbaum JD, Schlessinger J. A critical role for the protein tyrosine phosphatase receptor type Z in functional recovery from demyelinating lesions. Nature Genetics. 32: 411-4. PMID 12355066 DOI: 10.1038/ng1004  1
2002 Zaidi NF, Berezovska O, Choi EK, Miller JS, Chan H, Lilliehook C, Hyman BT, Buxbaum JD, Wasco W. Biochemical and immunocytochemical characterization of calsenilin in mouse brain. Neuroscience. 114: 247-63. PMID 12207970 DOI: 10.1016/S0306-4522(02)00251-8  1
2002 Lilliehook C, Chan S, Choi EK, Zaidi NF, Wasco W, Mattson MP, Buxbaum JD. Calsenilin enhances apoptosis by altering endoplasmic reticulum calcium signaling. Molecular and Cellular Neurosciences. 19: 552-9. PMID 11988022 DOI: 10.1006/mcne.2001.1096  1
2002 Buxbaum JD, Silverman JM, Smith CJ, Greenberg DA, Kilifarski M, Reichert J, Cook EH, Fang Y, Song CY, Vitale R. Association between a GABRB3 polymorphism and autism. Molecular Psychiatry. 7: 311-6. PMID 11920158 DOI: 10.1038/sj.mp.4001011  1
2002 Buxbaum JD, Cullen EI, Friedhoff LT. Pharmacological concentrations of the HMG-CoA reductase inhibitor lovastatin decrease the formation of the Alzheimer beta-amyloid peptide in vitro and in patients. Frontiers in Bioscience : a Journal and Virtual Library. 7: a50-9. PMID 11900994  1
2002 Pastorino L, Ikin AF, Nairn AC, Pursnani A, Buxbaum JD. The carboxyl-terminus of BACE contains a sorting signal that regulates BACE trafficking but not the formation of total A(beta). Molecular and Cellular Neurosciences. 19: 175-85. PMID 11860271 DOI: 10.1006/mcne.2001.1065  1
2002 Silverman JM, Smith CJ, Schmeidler J, Hollander E, Lawlor BA, Fitzgerald M, Buxbaum JD, Delaney K, Galvin P. Symptom domains in autism and related conditions: evidence for familiality. American Journal of Medical Genetics. 114: 64-73. PMID 11840508 DOI: 10.1002/ajmg.10048  1
2002 Sabo SL, Buxbaum JD. A role for APP in motility and transcription?: Response from Buxbaum and Sabo Trends in Pharmacological Sciences. 23: 205-206. DOI: 10.1016/S0165-6147(02)02004-7  1
2001 Vattemi G, Engel WK, McFerrin J, Buxbaum JD, Pastorino L, Askanas V. Presence of BACE1 and BACE2 in muscle fibres of patients with sporadic inclusion-body myositis. Lancet. 358: 1962-4. PMID 11747923 DOI: 10.1016/S0140-6736(01)06969-0  1
2001 Tekirian TL, Merriam DE, Marshansky V, Miller J, Crowley AC, Chan H, Ausiello D, Brown D, Buxbaum JD, Xia W, Wasco W. Subcellular localization of presenilin 2 endoproteolytic C-terminal fragments. Brain Research. Molecular Brain Research. 96: 14-20. PMID 11731004 DOI: 10.1016/S0169-328X(01)00250-9  1
2001 Osawa M, Tong KI, Lilliehook C, Wasco W, Buxbaum JD, Cheng HY, Penninger JM, Ikura M, Ames JB. Calcium-regulated DNA binding and oligomerization of the neuronal calcium-sensing protein, calsenilin/DREAM/KChIP3. The Journal of Biological Chemistry. 276: 41005-13. PMID 11535596 DOI: 10.1074/jbc.M105842200  1
2001 Friedhoff LT, Cullen EI, Geoghagen NS, Buxbaum JD. Treatment with controlled-release lovastatin decreases serum concentrations of human beta-amyloid (A beta) peptide. The International Journal of Neuropsychopharmacology / Official Scientific Journal of the Collegium Internationale Neuropsychopharmacologicum (Cinp). 4: 127-30. PMID 11466161 DOI: doi:10.1017/S1461145701002310  1
2001 Sabo SL, Ikin AF, Buxbaum JD, Greengard P. The Alzheimer amyloid precursor protein (APP) and FE65, an APP-binding protein, regulate cell movement. The Journal of Cell Biology. 153: 1403-14. PMID 11425871 DOI: 10.1083/jcb.153.7.1403  1
2001 Buxbaum JD, Silverman JM, Smith CJ, Kilifarski M, Reichert J, Hollander E, Lawlor BA, Fitzgerald M, Greenberg DA, Davis KL. Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. American Journal of Human Genetics. 68: 1514-20. PMID 11353400 DOI: 10.1086/320588  1
2001 Hakak Y, Walker JR, Li C, Wong WH, Davis KL, Buxbaum JD, Haroutunian V, Fienberg AA. Genome-wide expression analysis reveals dysregulation of myelination-related genes in chronic schizophrenia. Proceedings of the National Academy of Sciences of the United States of America. 98: 4746-51. PMID 11296301 DOI: 10.1073/pnas.081071198  1
2001 Choi EK, Zaidi NF, Miller JS, Crowley AC, Merriam DE, Lilliehook C, Buxbaum JD, Wasco W. Calsenilin is a substrate for caspase-3 that preferentially interacts with the familial Alzheimer's disease-associated C-terminal fragment of presenilin 2. The Journal of Biological Chemistry. 276: 19197-204. PMID 11278424 DOI: 10.1074/jbc.M008597200  1
2001 Ho L, Purohit D, Haroutunian V, Luterman JD, Willis F, Naslund J, Buxbaum JD, Mohs RC, Aisen PS, Pasinetti GM. Neuronal cyclooxygenase 2 expression in the hippocampal formation as a function of the clinical progression of Alzheimer disease. Archives of Neurology. 58: 487-92. PMID 11255454  1
2001 Buxbaum JD, Geoghagen NSM, Friedhoff LT. Cholesterol depletion with physiological concentrations of a statin decreases the formation of the Alzheimer amyloid Aβ peptide Journal of Alzheimer's Disease. 3: 221-229.  1
2001 Parvathy S, Davies P, Haroutunian V, Purohit DP, Davis KL, Mohs RC, Park H, Moran TM, Chan JY, Buxbaum JD. Correlation between Aβ-40-, Aβ-42-, and Aβx-43-containing amyloid plaques and cognitive decline Archives of Neurology. 58: 2025-2032.  1
2001 Williams NM, Spurlock G, Williams H, Norton N, Davis KL, Buxbaum JD, Haroutunian V, Saunders R, Cardno AG, McCarthy G, O'Donovan MC, Owen MJ. Screening of candidate genes related to myelination for mutations associated with schizophrenia American Journal of Medical Genetics - Neuropsychiatric Genetics. 105: 589.  1
2000 Buxbaum JD, Lilliehook C, Chan JY, Go RC, Bassett SS, Tanzi RE, Wasco W, Blacker D. Genomic structure, expression pattern, and chromosomal localization of the human calsenilin gene: no association between an exonic polymorphism and Alzheimer's disease. Neuroscience Letters. 294: 135-8. PMID 11072133 DOI: 10.1016/S0304-3940(00)01553-6  1
2000 Harroch S, Palmeri M, Rosenbluth J, Custer A, Okigaki M, Shrager P, Blum M, Buxbaum JD, Schlessinger J. No obvious abnormality in mice deficient in receptor protein tyrosine phosphatase beta. Molecular and Cellular Biology. 20: 7706-15. PMID 11003666 DOI: 10.1128/MCB.20.20.7706-7715.2000  1
2000 Leissring MA, Yamasaki TR, Wasco W, Buxbaum JD, Parker I, LaFerla FM. Calsenilin reverses presenilin-mediated enhancement of calcium signaling. Proceedings of the National Academy of Sciences of the United States of America. 97: 8590-3. PMID 10900016 DOI: 10.1073/pnas.97.15.8590  1
2000 Rio C, Buxbaum JD, Peschon JJ, Corfas G. Tumor necrosis factor-alpha-converting enzyme is required for cleavage of erbB4/HER4. The Journal of Biological Chemistry. 275: 10379-87. PMID 10744726 DOI: 10.1074/jbc.275.14.10379  1
2000 Näslund J, Haroutunian V, Mohs R, Davis KL, Davies P, Greengard P, Buxbaum JD. Correlation between elevated levels of amyloid beta-peptide in the brain and cognitive decline. Jama. 283: 1571-7. PMID 10735393  1
2000 Gouras GK, Tsai J, Naslund J, Vincent B, Edgar M, Checler F, Greenfield JP, Haroutunian V, Buxbaum JD, Xu H, Greengard P, Relkin NR. Intraneuronal Abeta42 accumulation in human brain. The American Journal of Pathology. 156: 15-20. PMID 10623648  1
1999 Sabo SL, Lanier LM, Ikin AF, Khorkova O, Sahasrabudhe S, Greengard P, Buxbaum JD. Regulation of beta-amyloid secretion by FE65, an amyloid protein precursor-binding protein. The Journal of Biological Chemistry. 274: 7952-7. PMID 10075692 DOI: 10.1074/jbc.274.12.7952  1
1998 Buxbaum JD, Thinakaran G, Koliatsos V, O'Callahan J, Slunt HH, Price DL, Sisodia SS. Alzheimer amyloid protein precursor in the rat hippocampus: transport and processing through the perforant path. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 18: 9629-37. PMID 9822724  1
1998 Gouras GK, Xu H, Jovanovic JN, Buxbaum JD, Wang R, Greengard P, Relkin NR, Gandy S. Generation and regulation of beta-amyloid peptide variants by neurons. Journal of Neurochemistry. 71: 1920-5. PMID 9798916  1
1998 Buxbaum JD, Liu KN, Luo Y, Slack JL, Stocking KL, Peschon JJ, Johnson RS, Castner BJ, Cerretti DP, Black RA. Evidence that tumor necrosis factor alpha converting enzyme is involved in regulated alpha-secretase cleavage of the Alzheimer amyloid protein precursor. The Journal of Biological Chemistry. 273: 27765-7. PMID 9774383 DOI: 10.1074/jbc.273.43.27765  1
1998 Buxbaum JD, Choi EK, Luo Y, Lilliehook C, Crowley AC, Merriam DE, Wasco W. Calsenilin: a calcium-binding protein that interacts with the presenilins and regulates the levels of a presenilin fragment. Nature Medicine. 4: 1177-81. PMID 9771752 DOI: 10.1038/2673  1
1998 Xu H, Gouras GK, Greenfield JP, Vincent B, Naslund J, Mazzarelli L, Fried G, Jovanovic JN, Seeger M, Relkin NR, Liao F, Checler F, Buxbaum JD, Chait BT, Thinakaran G, et al. Estrogen reduces neuronal generation of Alzheimer beta-amyloid peptides. Nature Medicine. 4: 447-51. PMID 9546791 DOI: 10.1038/nm0498-447  1
1998 Wisniewski T, Dowjat WK, Buxbaum JD, Khorkova O, Efthimiopoulos S, Kulczycki J, Lojkowska W, Wegiel J, Wisniewski HM, Frangione B. A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years. Neuroreport. 9: 217-21. PMID 9507958  1
1998 Desdouits-Magnen J, Desdouits F, Takeda S, Syu LJ, Saltiel AR, Buxbaum JD, Czernik AJ, Nairn AC, Greengard P. Regulation of secretion of Alzheimer amyloid precursor protein by the mitogen-activated protein kinase cascade. Journal of Neurochemistry. 70: 524-30. PMID 9453546  1
1997 Barelli H, Lebeau A, Vizzavona J, Delaere P, Chevallier N, Drouot C, Marambaud P, Ancolio K, Buxbaum JD, Khorkova O, Heroux J, Sahasrabudhe S, Martinez J, Warter JM, Mohr M, et al. 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. Molecular Medicine (Cambridge, Mass.). 3: 695-707. PMID 9392006  1
1997 Caputi A, Barindelli S, Pastorino L, Cimino M, Buxbaum JD, Cattabeni F, Di Luca M. Increased secretion of the amino-terminal fragment of amyloid precursor protein in brains of rats with a constitutive up-regulation of protein kinase C. Journal of Neurochemistry. 68: 2523-9. PMID 9166748  1
1997 Zambrano N, Buxbaum JD, Minopoli G, Fiore F, De Candia P, De Renzis S, Faraonio R, Sabo S, Cheetham J, Sudol M, Russo T. Interaction of the phosphotyrosine interaction/phosphotyrosine binding-related domains of Fe65 with wild-type and mutant Alzheimer's beta-amyloid precursor proteins. The Journal of Biological Chemistry. 272: 6399-405. PMID 9045663 DOI: 10.1074/jbc.272.10.6399  1
1996 Ikin AF, Annaert WG, Takei K, De Camilli P, Jahn R, Greengard P, Buxbaum JD. Alzheimer amyloid protein precursor is localized in nerve terminal preparations to Rab5-containing vesicular organelles distinct from those implicated in the synaptic vesicle pathway. The Journal of Biological Chemistry. 271: 31783-6. PMID 8943215 DOI: 10.1074/jbc.271.50.31783  1
1996 Desdouits F, Buxbaum JD, Desdouits-Magnen J, Nairn AC, Greengard P. Amyloid beta peptide formation in cell-free preparations. Regulation by protein kinase C, calmodulin, and calcineurin. The Journal of Biological Chemistry. 271: 24670-4. PMID 8798734 DOI: 10.1074/jbc.271.40.24670  1
1996 Calingasan NY, Gandy SE, Baker H, Sheu KF, Smith JD, Lamb BT, Gearhart JD, Buxbaum JD, Harper C, Selkoe DJ, Price DL, Sisodia SS, Gibson GE. Novel neuritic clusters with accumulations of amyloid precursor protein and amyloid precursor-like protein 2 immunoreactivity in brain regions damaged by thiamine deficiency. The American Journal of Pathology. 149: 1063-71. PMID 8780408  1
1996 Grice DE, Leckman JF, Pauls DL, Kurlan R, Kidd KK, Pakstis AJ, Chang FM, Buxbaum JD, Cohen DJ, Gelernter J. Linkage disequilibrium between an allele at the dopamine D4 receptor locus and Tourette syndrome, by the transmission-disequilibrium test. American Journal of Human Genetics. 59: 644-52. PMID 8751866  1
1996 Buxbaum JD, Greengard P. Regulation of APP processing by intra- and intercellular signals. Annals of the New York Academy of Sciences. 777: 327-31. PMID 8624108  1
1994 Buxbaum JD, Ruefli AA, Parker CA, Cypess AM, Greengard P. Calcium regulates processing of the Alzheimer amyloid protein precursor in a protein kinase C-independent manner. Proceedings of the National Academy of Sciences of the United States of America. 91: 4489-93. PMID 8183935  1
1993 Buxbaum JD, Koo EH, Greengard P. Protein phosphorylation inhibits production of Alzheimer amyloid beta/A4 peptide. Proceedings of the National Academy of Sciences of the United States of America. 90: 9195-8. PMID 8415676  1
1993 Buxbaum JD, Christensen JL, Ruefli AA, Greengard P, Loring JF. Expression of APP in brains of transgenic mice containing the entire human APP gene. Biochemical and Biophysical Research Communications. 197: 639-45. PMID 8267600 DOI: 10.1006/bbrc.1993.2527  1
1993 Gandy SE, Caporaso GL, Buxbaum JD, de Cruz Silva O, Iverfeldt K, Nordstedt C, Suzuki T, Czernik AJ, Nairn AC, Greengard P. Protein phosphorylation regulates relative utilization of processing pathways for Alzheimer beta/A4 amyloid precursor protein. Annals of the New York Academy of Sciences. 695: 117-21. PMID 8239268 DOI: 10.1111/j.1749-6632.1993.tb23038.x  1
1992 Caporaso GL, Gandy SE, Buxbaum JD, Ramabhadran TV, Greengard P. Protein phosphorylation regulates secretion of Alzheimer beta/A4 amyloid precursor protein. Proceedings of the National Academy of Sciences of the United States of America. 89: 3055-9. PMID 1557413  1
1992 Caporaso GL, Gandy SE, Buxbaum JD, Greengard P. Chloroquine inhibits intracellular degradation but not secretion of Alzheimer beta/A4 amyloid precursor protein. Proceedings of the National Academy of Sciences of the United States of America. 89: 2252-6. PMID 1549591  1
1992 Gandy SE, Buxbaum JD, Suzuki T, Ramabhadran TV, Caporaso GL, Nairn AC, Greengard P. The nature and metabolism of potentially amyloidogenic carboxyl-terminal fragments of the Alzheimer beta/A4-amyloid precursor protein: some technical notes. Neurobiology of Aging. 13: 601-3. PMID 1461349 DOI: 10.1016/0197-4580(92)90063-4  1
1992 Gandy SE, Caporaso GL, Ramabhadran TV, Suzuki T, Buxbaum JD, Nordstedt C, Iverfeldt K, Czernik AJ, Nairn AC, Greengard P. Characterization of alternative routes for processing of the Alzheimer beta/A4-amyloid precursor protein. Differential effects of phorbol esters and chloroquine. Annals of the New York Academy of Sciences. 674: 203-17. PMID 1363189  0.72
1992 Buxbaum JD, Oishi M, Chen HI, Pinkas-Kramarski R, Jaffe EA, Gandy SE, Greengard P. Cholinergic agonists and interleukin 1 regulate processing and secretion of the Alzheimer beta/A4 amyloid protein precursor. Proceedings of the National Academy of Sciences of the United States of America. 89: 10075-8. PMID 1359534  1
1990 Buxbaum JD, Gandy SE, Cicchetti P, Ehrlich ME, Czernik AJ, Fracasso RP, Ramabhadran TV, Unterbeck AJ, Greengard P. Processing of Alzheimer beta/A4 amyloid precursor protein: modulation by agents that regulate protein phosphorylation. Proceedings of the National Academy of Sciences of the United States of America. 87: 6003-6. PMID 2116015 DOI: 10.1073/pnas.87.15.6003  1
1989 Buxbaum JD, Dudai Y. In vivo protein phosphorylation in Drosophila mutants defective in learning and memory. Neuroscience Letters. 104: 351-5. PMID 2812550 DOI: 10.1016/0304-3940(89)90602-2  1
1989 Buxbaum JD, Dudai Y. 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. The Journal of Biological Chemistry. 264: 9344-51. PMID 2722837  1
1988 Buxbaum JD, Dudai Y. 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. Analytical Biochemistry. 169: 209-15. PMID 3369684 DOI: 10.1016/0003-2697(88)90276-X  1
1987 Buxbaum JD, Dudai Y. In vitro protein phosphorylation in head preparations from normal and mutant Drosophila melanogaster. Journal of Neurochemistry. 49: 1161-73. PMID 3040907  1
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