Joseph D. Buxbaum - Publications

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

231 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, 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
2021 Mahjani B, De Rubeis S, Gustavsson Mahjani C, Mulhern M, Xu X, Klei L, Satterstrom FK, Fu J, Talkowski ME, Reichenberg A, Sandin S, Hultman CM, Grice DE, Roeder K, Devlin B, ... Buxbaum JD, et al. Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder. Molecular Autism. 12: 65. PMID 34615535 DOI: 10.1186/s13229-021-00465-3  0.66
2021 Klei L, McClain LL, Mahjani B, Panayidou K, De Rubeis S, Grahnat AS, Karlsson G, Lu Y, Melhem N, Xu X, Reichenberg A, Sandin S, Hultman CM, Buxbaum JD, Roeder K, et al. How rare and common risk variation jointly affect liability for autism spectrum disorder. Molecular Autism. 12: 66. PMID 34615521 DOI: 10.1186/s13229-021-00466-2  0.646
2021 Boitnott A, Garcia-Forn M, Ung DC, Niblo K, Mendonca D, Park Y, Flores M, Maxwell S, Ellegood J, Qiu LR, Grice DE, Lerch JP, Rasin MR, Buxbaum JD, Drapeau E, et al. Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome. Biological Psychiatry. PMID 34344536 DOI: 10.1016/j.biopsych.2021.05.027  0.634
2021 Pavinato L, Nematian-Ardestani E, Zonta A, De Rubeis S, Buxbaum J, Mancini C, Bruselles A, Tartaglia M, Pessia M, Tucker SJ, D'Adamo MC, Brusco A. Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity. International Journal of Molecular Sciences. 22. PMID 34199759 DOI: 10.3390/ijms22116064  0.661
2021 Tang L, Levy T, Guillory S, Halpern D, Zweifach J, Giserman-Kiss I, Foss-Feig JH, Frank Y, Lozano R, Belani P, Layton C, Lerman B, Frowner E, Breen MS, De Rubeis S, ... ... Buxbaum JD, et al. Prospective and detailed behavioral phenotyping in DDX3X syndrome. Molecular Autism. 12: 36. PMID 33993884 DOI: 10.1186/s13229-021-00431-z  0.638
2021 Pavinato L, Trajkova S, Grosso E, Giorgio E, Bruselles A, Radio FC, Pippucci T, Dimartino P, Tartaglia M, Petlichkovski A, De Rubeis S, Buxbaum J, Ferrero GB, Keller R, Brusco A. Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review. American Journal of Medical Genetics. Part A. PMID 33675273 DOI: 10.1002/ajmg.a.62157  0.634
2021 Siper PM, Layton C, Levy T, Lurie S, Benrey N, Zweifach J, Rowe M, Tang L, Guillory S, Halpern D, Giserman-Kiss I, Del Pilar Trelles M, Foss-Feig JH, De Rubeis S, Tavassoli T, ... Buxbaum JD, et al. Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis. Genes. 12. PMID 33673501 DOI: 10.3390/genes12030351  0.635
2020 Pavinato L, Villamor-Payà M, Sanchiz-Calvo M, Andreoli C, Gay M, Vilaseca M, Arauz-Garofalo G, Ciolfi A, Bruselles A, Pippucci T, Prota V, Carli D, Giorgio E, Radio FC, Antona V, ... ... Buxbaum JD, et al. Functional analysis of variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. Journal of Medical Genetics. PMID 33323470 DOI: 10.1136/jmedgenet-2020-107281  0.644
2020 Breen MS, Garg P, Tang L, Mendonca D, Levy T, Barbosa M, Arnett AB, Kurtz-Nelson E, Agolini E, Battaglia A, Chiocchetti AG, Freitag CM, Garcia-Alcon A, Grammatico P, Hertz-Picciotto I, ... ... Buxbaum JD, et al. Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype. American Journal of Human Genetics. PMID 32758449 DOI: 10.1016/J.Ajhg.2020.07.003  0.678
2020 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. Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nature Neuroscience. PMID 32665711 DOI: 10.1038/S41593-020-0681-Z  0.659
2020 Breen MS, Browne A, Hoffman GE, Stathopoulos S, Brennand K, Buxbaum JD, Drapeau E. Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism. Molecular Autism. 11: 53. PMID 32560742 DOI: 10.1186/S13229-020-00355-0  0.341
2020 Nguyen TH, Dobbyn A, Brown RC, Riley BP, Buxbaum JD, Pinto D, Purcell SM, Sullivan PF, He X, Stahl EA. mTADA is a framework for identifying risk genes from de novo mutations in multiple traits. Nature Communications. 11: 2929. PMID 32522981 DOI: 10.1038/S41467-020-16487-Z  0.337
2020 Huckins LM, Chatzinakos C, Breen MS, Hartmann J, Klengel T, da Silva Almeida AC, Dobbyn A, Girdhar K, Hoffman GE, Klengel C, Logue MW, Lori A, Maihofer AX, Morrison FG, Nguyen HT, ... ... Buxbaum JD, et al. Analysis of Genetically Regulated Gene Expression Identifies a Prefrontal PTSD Gene, SNRNP35, Specific to Military Cohorts. Cell Reports. 31: 107716. PMID 32492425 DOI: 10.1016/J.Celrep.2020.107716  0.786
2020 Schaaf CP, Betancur C, Yuen RKC, Parr JR, Skuse DH, Gallagher L, Bernier RA, Buchanan JA, Buxbaum JD, Chen CA, Dies KA, Elsabbagh M, Firth HV, Frazier T, Hoang N, et al. A framework for an evidence-based gene list relevant to autism spectrum disorder. Nature Reviews. Genetics. PMID 32317787 DOI: 10.1038/S41576-020-0231-2  0.34
2020 Werling DM, Pochareddy S, Choi J, An JY, Sheppard B, Peng M, Li Z, Dastmalchi C, Santpere G, Sousa AMM, Tebbenkamp ATN, Kaur N, Gulden FO, Breen MS, Liang L, ... ... Buxbaum JD, et al. Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex. Cell Reports. 31: 107489. PMID 32268104 DOI: 10.1016/J.Celrep.2020.03.053  0.335
2020 Xu D, Wang C, Kiryluk K, Buxbaum JD, Ionita-Laza I. Co-localization between Sequence Constraint and Epigenomic Information Improves Interpretation of Whole-Genome Sequencing Data. American Journal of Human Genetics. 106: 513-524. PMID 32243819 DOI: 10.1016/J.Ajhg.2020.03.003  0.361
2020 Breen MS, Bierer LM, Daskalakis NP, Bader HN, Makotkine I, Chattopadhyay M, Xu C, Grice AB, Tocheva AS, Flory JD, Buxbaum JD, Meaney MJ, Brennand K, Yehuda R. Correction: Differential transcriptional response following glucocorticoid activation in cultured blood immune cells: a novel approach to PTSD biomarker development. Translational Psychiatry. 10: 1. PMID 32066695 DOI: 10.1038/S41398-019-0665-5  0.656
2020 Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, Peng M, Collins R, Grove J, Klei L, Stevens C, Reichert J, Mulhern MS, Artomov M, Gerges S, ... ... Buxbaum JD, et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. PMID 31981491 DOI: 10.1016/J.Cell.2019.12.036  0.7
2020 Mahjani B, Dellenvall K, Grahnat AS, Karlsson G, Tuuliainen A, Reichert J, Mahjani CG, Klei L, De Rubeis S, Reichenberg A, Devlin B, Hultman CM, Buxbaum JD, Sandin S, Grice DE. Cohort profile: Epidemiology and Genetics of Obsessive-compulsive disorder and chronic tic disorders in Sweden (EGOS). Social Psychiatry and Psychiatric Epidemiology. PMID 31907560 DOI: 10.1007/s00127-019-01822-7  0.665
2019 Hoffman GE, Bendl J, Voloudakis G, Montgomery KS, Sloofman L, Wang YC, Shah HR, Hauberg ME, Johnson JS, Girdhar K, Song L, Fullard JF, Kramer R, Hahn CG, Gur R, ... ... Buxbaum JD, et al. CommonMind Consortium provides transcriptomic and epigenomic data for Schizophrenia and Bipolar Disorder. Scientific Data. 6: 180. PMID 31551426 DOI: 10.1038/S41597-019-0183-6  0.309
2019 Breen MS, Bierer LM, Daskalakis NP, Bader HN, Makotkine I, Chattopadhyay M, Xu C, Buxbaum Grice A, Tocheva AS, Flory JD, Buxbaum JD, Meaney MJ, Brennand K, Yehuda R. Differential transcriptional response following glucocorticoid activation in cultured blood immune cells: a novel approach to PTSD biomarker development. Translational Psychiatry. 9: 201. PMID 31434874 DOI: 10.1038/S41398-019-0539-X  0.679
2019 Bai D, Yip BHK, Windham GC, Sourander A, Francis R, Yoffe R, Glasson E, Mahjani B, Suominen A, Leonard H, Gissler M, Buxbaum JD, Wong K, Schendel D, Kodesh A, et al. Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort. Jama Psychiatry. PMID 31314057 DOI: 10.1001/jamapsychiatry.2019.1411  0.307
2019 Doan RN, Lim ET, De Rubeis S, Betancur C, Cutler DJ, Chiocchetti AG, Overman LM, Soucy A, Goetze S, Freitag CM, Daly MJ, Walsh CA, Buxbaum JD, Yu TW. Recessive gene disruptions in autism spectrum disorder. Nature Genetics. PMID 31209396 DOI: 10.1038/S41588-019-0433-8  0.701
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  0.686
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  0.687
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  0.528
2019 Satterstrom F, Kosmicki J, Wang J, Collins R, de Rubeis S, Breen M, Gerges S, Børglum A, Buxbaum J, Cutler D, Devlin B, Roeder K, Sanders S, Talkowski M, Daly M. 31DISCOVERY AND CHARACTERIZATION OF 102 GENES ASSOCIATED WITH AUTISM FROM EXOME SEQUENCING OF 37,269 INDIVIDUALS European Neuropsychopharmacology. 29: S1083-S1084. DOI: 10.1016/J.Euroneuro.2018.08.038  0.311
2019 Huckins L, Breen M, van Rooij S, Hartmann J, Girdhar K, Jovanovic T, Nievergelt C, Im HK, Buxbaum J, Sklar P, Ressler K, Stahl E, Daskalakis N. GENETICALLY REGULATED GENE EXPRESSION IN BRAIN AND PERIPHERAL TISSUES IN PTSD European Neuropsychopharmacology. 29: S1056. DOI: 10.1016/J.Euroneuro.2018.07.072  0.617
2019 Drapeau E, Riad M, Kajiwara Y, Buxbaum J. BEHAVIOR PHENOTYPING OF A MOUSE MODEL OF PHELAN MCDERMID SYNDROME WITH A FULL DELETION OF SHANK3 GENE European Neuropsychopharmacology. 29: S961. DOI: 10.1016/j.euroneuro.2017.08.320  0.492
2019 Huckins L, Girdhar K, Dobbyn A, Jovanovic T, Nievergelt C, Hoffman G, Maihofer A, Stein M, Sklar P, Ressler K, Buxbaum J, Stahl E, Daskalakis N. Genetically Predicted Gene Expression In The Brain And Peripheral Tissues Associates With Ptsd European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2017.08.200  0.633
2019 Buxbaum J, Brennand K, Browne A, Drapeau E, Brenner K, Noggle S, Yehuda R. Large-Scale Reprogramming and Neuronal Differentiation In Complex Psychiatric Disorders European Neuropsychopharmacology. 29: S765-S766. DOI: 10.1016/J.Euroneuro.2017.06.124  0.522
2018 Kajiwara Y, Wang E, Wang M, Sin WC, Brennand KJ, Schadt E, Naus CC, Buxbaum J, Zhang B. GJA1 (connexin43) is a key regulator of Alzheimer's disease pathogenesis. Acta Neuropathologica Communications. 6: 144. PMID 30577786 DOI: 10.1186/S40478-018-0642-X  0.526
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  0.637
2018 An JY, Lin K, Zhu L, Werling DM, Dong S, Brand H, Wang HZ, Zhao X, Schwartz GB, Collins RL, Currall BB, Dastmalchi C, Dea J, Duhn C, Gilson MC, ... ... Buxbaum JD, et al. Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. Science (New York, N.Y.). 362. PMID 30545852 DOI: 10.1126/Science.Aat6576  0.338
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  0.308
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  0.427
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  0.689
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  0.318
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  0.675
2018 Breen MS, Wingo AP, Koen N, Donald KA, Nicol M, Zar HJ, Ressler KJ, Buxbaum JD, Stein DJ. Gene expression in cord blood links genetic risk for neurodevelopmental disorders with maternal psychological distress and adverse childhood outcomes. Brain, Behavior, and Immunity. PMID 29791872 DOI: 10.1016/j.bbi.2018.05.016  0.312
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  0.676
2018 Werling DM, Brand H, An JY, Stone MR, Zhu L, Glessner JT, Collins RL, Dong S, Layer RM, Markenscoff-Papadimitriou E, Farrell A, Schwartz GB, Wang HZ, Currall BB, Zhao X, ... ... Buxbaum JD, et al. An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. Nature Genetics. PMID 29700473 DOI: 10.1038/S41588-018-0107-Y  0.331
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  0.319
2018 Hannon E, Schendel D, Ladd-Acosta C, Grove J, Hansen CS, Andrews SV, Hougaard DM, Bresnahan M, Mors O, Hollegaard MV, Bækvad-Hansen M, Hornig M, Mortensen PB, Børglum AD, ... ... Buxbaum J, et al. Elevated polygenic burden for autism is associated with differential DNA methylation at birth. Genome Medicine. 10: 19. PMID 29587883 DOI: 10.1186/S13073-018-0527-4  0.332
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  0.303
2018 Herman PE, Papatheodorou A, Bryant SA, Waterbury CKM, Herdy JR, Arcese AA, Buxbaum JD, Smith JJ, Morgan JR, Bloom O. Highly conserved molecular pathways, including Wnt signaling, promote functional recovery from spinal cord injury in lampreys. Scientific Reports. 8: 742. PMID 29335507 DOI: 10.1038/s41598-017-18757-1  0.662
2017 Nguyen HT, Bryois J, Kim A, Dobbyn A, Huckins LM, Munoz-Manchado AB, Ruderfer DM, Genovese G, Fromer M, Xu X, Pinto D, Linnarsson S, Verhage M, Smit AB, Hjerling-Leffler J, ... Buxbaum JD, et al. Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders. Genome Medicine. 9: 114. PMID 29262854 DOI: 10.1186/S13073-017-0497-Y  0.338
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  0.688
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  0.49
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  0.68
2017 Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, ... ... Buxbaum JD, et al. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nature Genetics. PMID 28714976 DOI: 10.1038/Ng.3916  0.313
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  0.69
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  0.684
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  0.695
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  0.692
2017 Kosmicki JA, Samocha KE, Howrigan DP, Sanders SJ, Slowikowski K, Lek M, Karczewski KJ, Cutler DJ, Devlin B, Roeder K, Buxbaum JD, Neale BM, MacArthur DG, Wall DP, Robinson EB, et al. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nature Genetics. PMID 28191890 DOI: 10.1038/Ng.3789  0.39
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  0.634
2017 Wagner S, Harony-Nicolas H, Kay M, du Hoffmann J, Bozdagi-Gunal O, Klein M, Riad M, Daskalakis N, Castillo P, Hof P, Shapiro M, Baxter M, Buxbaum J. Oxytocin Improves Social And Attentional Deficits In A Novel Genetically Modified Rat Model of Autism European Neuropsychopharmacology. 27: S422. DOI: 10.1016/J.Euroneuro.2016.09.473  0.593
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  0.509
2016 Fromer M, Roussos P, Sieberts SK, Johnson JS, Kavanagh DH, Perumal TM, Ruderfer DM, Oh EC, Topol A, Shah HR, Klei LL, Kramer R, Pinto D, Gümüş ZH, Cicek AE, ... ... Buxbaum JD, et al. Gene expression elucidates functional impact of polygenic risk for schizophrenia. Nature Neuroscience. PMID 27668389 DOI: 10.1038/Nn.4399  0.301
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  0.537
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  0.662
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  0.625
2016 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. Author response: Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat Elife. DOI: 10.7554/Elife.18904.017  0.584
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  0.328
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. PMID 26366463 DOI: 10.1001/Jamaneurol.2015.1700  0.309
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  0.676
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  0.459
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  0.686
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  0.318
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  0.544
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  0.707
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  0.682
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  0.7
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  0.321
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  0.378
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  0.312
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  0.303
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  0.684
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  0.688
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  0.311
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  0.688
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  0.33
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  0.307
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  0.324
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  0.572
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  0.335
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  0.492
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  0.346
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  0.365
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  0.353
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  0.342
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  0.677
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  0.739
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  0.555
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  0.692
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  0.302
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  0.51
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  0.324
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  0.312
2013 Buxbaum JD, Baron-Cohen S. DSM-5: the debate continues. Molecular Autism. 4: 11. PMID 23676181 DOI: 10.1186/2040-2392-4-11  0.304
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  0.325
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  0.321
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  0.652
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  0.346
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  0.602
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  0.325
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  0.433
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  0.313
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  0.319
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  0.327
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  0.382
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  0.338
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  0.37
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  0.301
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  0.333
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  0.31
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  0.366
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  0.311
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  0.367
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  0.314
2012 Daskalakis NP, Buxbaum J, Flory JD, Cai G, Shen L, Bierer LM, Cohen H, Yehuda R. Brain and blood gene expression pathways associated with susceptibility to PTSD European Journal of Psychotraumatology. 3. DOI: 10.3402/Ejpt.V3I0.19509  0.678
2011 Ionita-Laza I, Makarov V, Yoon S, Raby B, Buxbaum J, Nicolae DL, Lin X. Finding disease variants in Mendelian disorders by using sequence data: methods and applications. American Journal of Human Genetics. 89: 701-12. PMID 22137099 DOI: 10.1016/J.Ajhg.2011.11.003  0.318
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  0.328
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 DOI: 10.1086/Bblv221N1P18  0.671
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  0.302
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  0.352
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  0.35
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  0.495
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  0.341
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  0.306
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  0.325
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  0.339
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  0.492
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  0.515
2010 Yehuda R, Flory JD, Pratchett LC, Buxbaum J, Ising M, Holsboer F. Putative biological mechanisms for the association between early life adversity and the subsequent development of PTSD. Psychopharmacology. 212: 405-17. PMID 20706708 DOI: 10.1007/S00213-010-1969-6  0.476
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  0.316
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  0.313
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  0.357
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  0.542
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  0.309
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  0.326
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  0.329
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  0.492
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  0.365
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  0.366
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  0.345
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  0.495
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  0.564
2009 Naj AC, Beecham GW, Slifer MA, Martin ER, Gallins PJ, Konidari I, Whitehead PL, Cai G, Kajiwara Y, Haroutunian V, Gwirtsman HE, Gilbert JR, Haines JL, Buxbaum JD, Pericak-Vance MA. Genome-wide association study validates associations in APOE, VDR, SORL1, WWC1, and ELAVL4 and identifies novel candidate genes for late-onset Alzheimer's disease Alzheimers & Dementia. 5. DOI: 10.1016/J.Jalz.2009.05.519  0.524
2009 Beecham GW, Naj AC, Cai G, Kajiwara Y, Haroutunian V, Konidari I, Gallins P, Whitehead P, Gilbert JR, Slifer MA, Gwirstman H, Martin ER, Buxbaum J, Haines JL, Pericak-Vance MA. GRB-associated binding protein 2 (GAB2) interacts with APOE to alter risk of late-onset Alzheimer's disease Alzheimers & Dementia. 5: 111. DOI: 10.1016/J.Jalz.2009.05.348  0.521
2009 Slifer MA, Naj A, Beecham G, Martin E, Konidari I, Whitehead P, Gallins P, Cai G, Kajiwara Y, Haroutunian V, Vance J, Haines J, Buxbaum J, Pericak-Vance M. ELAVL4 locus confirmed in depression of Alzheimer's disease Alzheimers & Dementia. 5: 468. DOI: 10.1016/J.Jalz.2009.04.793  0.467
2009 Buxbaum JD, Kajiwara Y, Sakurai T, Haroutunian V, Elder G, Sosa MG, Akram A, Katsel P. P4-176: Caspase-4 as a key factor in Alzheimer pathology Alzheimer's & Dementia. 5: P483-P483. DOI: 10.1016/J.Jalz.2009.04.743  0.492
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  0.321
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  0.338
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  0.313
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  0.695
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  0.529
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  0.334
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  0.318
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  0.772
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  0.321
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  0.305
2007 Grice D, Kajiwara Y, Sakurai T, Buxbaum J. Functional dissection of SLITRK1 signaling European Psychiatry. 22: S88. DOI: 10.1016/J.Eurpsy.2007.01.1201  0.492
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  0.328
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  0.305
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  0.304
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  0.528
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  0.32
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  0.307
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  0.3
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  0.303
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  0.301
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  0.327
2004 Cataldo AM, Petanceska S, Terio NB, Peterhoff CM, Durham R, Mercken M, Mehta PD, Buxbaum J, Haroutunian V, Nixon RA. Abeta localization in abnormal endosomes: association with earliest Abeta elevations in AD and Down syndrome. Neurobiology of Aging. 25: 1263-72. PMID 15465622 DOI: 10.1016/J.Neurobiolaging.2004.02.027  0.309
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  0.302
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  0.31
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  0.304
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  0.595
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  0.327
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  0.31
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  0.305
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 DOI: 10.1093/Jnen/62.10.999  0.325
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  0.77
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 DOI: 10.1523/Jneurosci.23-13-05407.2003  0.776
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  0.311
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 Aβ Formation and Long-Term Potentiation in a Calsenilin Knock-Out The Journal of Neuroscience. 23: 9097-9106. DOI: 10.1523/Jneurosci.23-27-09097.2003  0.775
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  0.791
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  0.763
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  0.5
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  0.302
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  0.761
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  0.761
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  0.779
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  0.315
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  0.776
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  0.786
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  0.315
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  0.59
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 DOI: 10.1001/Jama.283.12.1571  0.551
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 DOI: 10.1016/S0002-9440(10)64700-1  0.642
2000 Lilliehook C, Choi E, Wasco W, Chan SL, Mattson MP, Buxbaum JD. The presenilin-interacting protein calsenilin enhances apoptosis and modulates IP3-signaling Neurobiology of Aging. 21: 256. DOI: 10.1016/S0197-4580(00)83103-6  0.762
2000 Choi E, Zaidi NF, Miller JS, Crowley AC, Merriam DM, Lilliehook C, Buxbaum JD, Wasco W. Molecular characterization of calsenilin, a novel calcium-binding protein, that interacts with the presenilins Neurobiology of Aging. 21: 117. DOI: 10.1016/S0197-4580(00)82328-3  0.765
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  0.782
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 DOI: 10.1523/Jneurosci.18-23-09629.1998  0.311
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 DOI: 10.1046/J.1471-4159.1998.71051920.X  0.775
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  0.792
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  0.645
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 DOI: 10.1097/00001756-199801260-00008  0.319
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 DOI: 10.1046/J.1471-4159.1998.70020524.X  0.627
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  0.78
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  0.676
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  0.642
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 DOI: 10.1111/j.1749-6632.1996.tb34441.x  0.553
1996 Buxbaum J, Desdouits F, Desdouits-Magnen J, Ikin A, Luo Y, Sabo S, Sukegawa I, Takeda S, Watanabe T, Greengard P. 176 Non-protease approaches to modulating APP processing: is there therapeutic relevance? Neurobiology of Aging. 17: S45. DOI: 10.1016/S0197-4580(96)80178-3  0.758
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 DOI: 10.1073/PNAS.91.10.4489  0.56
1994 Gandy S, Caporaso G, Buxbaum J, Frangione B, Greengard P. APP processing, A beta-amyloidogenesis, and the pathogenesis of Alzheimer's disease. Neurobiology of Aging. 15: 253-6. PMID 7838304 DOI: 10.1016/0197-4580(94)90125-2  0.481
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 DOI: 10.1073/Pnas.90.19.9195  0.542
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  0.569
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  0.643
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 DOI: 10.1073/PNAS.89.7.3055  0.561
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 DOI: 10.1073/PNAS.89.6.2252  0.562
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  0.704
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 DOI: 10.1111/J.1749-6632.1992.Tb27489.X  0.695
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 DOI: 10.1073/PNAS.89.21.10075  0.554
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  0.552
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  0.522
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  0.479
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  0.538
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 DOI: 10.1111/J.1471-4159.1987.Tb10007.X  0.542
1987 Dudai Y, Buxbaum J, Corfas G, Ofarim M. Formamidines interact with Drosophila octopamine receptors, alter the flies' behavior and reduce their learning ability Journal of Comparative Physiology A. 161: 739-746. DOI: 10.1007/BF00605015  0.685
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