Keywords
Last Name
Institution

Joseph D. Buxbaum

TitlePROFESSOR
InstitutionMount Sinai
DepartmentPsychiatry
Address
    Other Positions
    TitlePROFESSOR
    InstitutionMount Sinai
    DepartmentNeuroscience

    TitlePROFESSOR
    InstitutionMount Sinai
    DepartmentGenetics and Genomic Sciences


     Bibliographic 
     selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, Jun G, Destefano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Jones N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Gerrish A, Schmidt H, Kunkle B, Dunstan ML, Ruiz A, Bihoreau MT, Choi SH, Reitz C, Pasquier F, Hollingworth P, Ramirez A, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Morón FJ, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Green R, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Sanchez-Garcia F, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Mancuso M, Matthews F. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet. 2013 Dec; 45(12):1452-8.
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    2. 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. Am J Hum Genet. 2013 Oct 3; 93(4):607-19.
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    3. 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. Front Psychiatry. 2013; 4:118.
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    4. 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, Züchner S, Grice DE. Characterization of SLITRK1 variation in obsessive-compulsive disorder. PLoS One. 2013; 8(8):e70376.
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    5. Martí-Massó JF, Bergareche A, Makarov V, Ruiz-Martinez J, Gorostidi A, de Munain AL, 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. J Mol Med (Berl). 2013 Dec; 91(12):1399-406.
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    6. 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 Genet. 2013; 9(8):e1003671.
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    7. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet. 2013 Sep; 45(9):984-94.
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    8. 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. Hum Mutat. 2013 Sep; 34(9):1200-7.
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    9. Betancur C, Buxbaum JD. SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders. Mol Autism. 2013; 4(1):17.
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    10. 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, Canitano R, Chaplin W, Betancur C, Buxbaum JD. Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Mol Autism. 2013; 4(1):18.
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    11. 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 Genet. 2013 Jun; 9(6):e1003523.
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    12. 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. 2013 Oct; 102(4):270-7.
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    13. Sheibani S, Kim JJ, Chen B, Park S, Saberi B, Keyashian K, Buxbaum J, Laine L. Natural history of acute upper GI bleeding due to tumours: short-term success and long-term recurrence with or without endoscopic therapy. Aliment Pharmacol Ther. 2013 Jul; 38(2):144-50.
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    14. Ionita-Laza I, Lee S, Makarov V, Buxbaum JD, Lin X. Sequence kernel association tests for the combined effect of rare and common variants. Am J Hum Genet. 2013 Jun 6; 92(6):841-53.
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    15. Buxbaum JD, Baron-Cohen S. DSM-5: the debate continues. Mol Autism. 2013; 4(1):11.
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    16. 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. Mol Autism. 2013; 4(1):9.
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    17. 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, Gabriel S, Garimella K, Gross S, Hawes A, Lewis L, Makarov V, Maguire J, Newsham I, Poplin R, Ripke S, Shakir K, Samocha KE, Wu Y, Boerwinkle E, Buxbaum JD, Cook EH, Devlin B, Schellenberg GD, Sutcliffe JS, Daly MJ, Gibbs RA, Roeder K. Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet. 2013 Apr; 9(4):e1003443.
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    18. 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, Raj T, Ertekin-Taner N, Logue M, Baldwin CT, Green RC, Barnes LL, Cantwell LB, Fallin MD, Go RC, Griffith P, Obisesan TO, Manly JJ, Lunetta KL, Kamboh MI, Lopez OL, Bennett DA, Hendrie H, Hall KS, Goate AM, Byrd GS, Kukull WA, Foroud TM, Haines JL, Farrer LA, Pericak-Vance MA, Schellenberg GD, Mayeux R. Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ?4,and the risk of late-onset Alzheimer disease in African Americans. JAMA. 2013 Apr 10; 309(14):1483-92.
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    19. 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, Cook M, Krumlauf R, Wiedemann LM, Sower SA, Decatur WA, Hall JA, Amemiya CT, Saha NR, Buckley KM, Rast JP, Das S, Hirano M, McCurley N, Guo P, Rohner N, Tabin CJ, Piccinelli P, Elgar G, Ruffier M, Aken BL, Searle SM, Muffato M, Pignatelli M, Herrero J, Jones M, Brown CT, Chung-Davidson YW, Nanlohy KG, Libants SV, Yeh CY, McCauley DW, Langeland JA, Pancer Z, Fritzsch B, de Jong PJ, Zhu B, Fulton LL, Theising B, Flicek P, Bronner ME, Warren WC, Clifton SW, Wilson RK, Li W. Sequencing of the sea lamprey (Petromyzon marinus) genome provides insights into vertebrate evolution. Nat Genet. 2013 Apr; 45(4):415-21, 421e1-2.
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    20. 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. Eur J Hum Genet. 2013 Oct; 21(10):1158-62.
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    21. 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, Gudnason V, Hakonarson H. Copy number variations in alternative splicing gene networks impact lifespan. PLoS One. 2013; 8(1):e53846.
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    22. 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, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, Valladares O, Gabriel SB, dePristo M, Altshuler DM, Purcell SM. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 2013 Jan 23; 77(2):235-42.
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    23. 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. 2012 Dec 20; 76(6):1052-6.
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    24. 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. Hum Genet. 2013 Mar; 132(3):275-83.
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    25. Bozdagi O, Sakurai T, Dorr N, Pilorge M, Takahashi N, Buxbaum JD. Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice. PLoS One. 2012; 7(8):e42422.
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    26. 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, Callado LF, Gallitano AL, Neve RL, Shen L, Buxbaum JD, Han MH, Nestler EJ, Meana JJ, Russo SJ, González-Maeso J. HDAC2 regulates atypical antipsychotic responses through the modulation of mGlu2 promoter activity. Nat Neurosci. 2012 Sep; 15(9):1245-54.
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    27. 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, Wang R, Ringe D, Fraser P, Westaway D, St George-Hyslop PH, Szabo P, Relkin NR, Buxbaum JD, Glabe CG, Protter AA, Martins RN, Ehrlich ME, Petsko GA, Yue Z, Gandy S. Latrepirdine improves cognition and arrests progression of neuropathology in an Alzheimer's mouse model. Mol Psychiatry. 2013 Aug; 18(8):889-97.
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    28. 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, Corsello C, Crawford EL, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Gilbert J, Gillberg C, Glessner JT, Green A, Green J, Guter SJ, Heron EA, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Jacob S, Kenny GP, Kim C, Kolevzon A, Kustanovich V, Lajonchere CM, Lamb JA, Law-Smith M, Leboyer M, Le Couteur A, Leventhal BL, Liu XQ, Lombard F, Lord C, Lotspeich L, Lund SC, Magalhaes TR, Mantoulan C, McDougle CJ, Melhem NM, Merikangas A, Minshew NJ, Mirza GK, Munson J, Noakes C, Nygren G, Papanikolaou K, Pagnamenta AT, Parrini B, Paton T, Pickles A, Posey DJ, Poustka F, Ragoussis J, Regan R, Roberts W, Roeder K, Roge B, Rutter ML, Schlitt S, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Sykes N, Tancredi R, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wing K, Wittemeyer K, Wood S, Zurawiecki D, Zwaigenbaum L, Bailey AJ, Battaglia A, Cantor RM, Coon H, Cuccaro ML, Dawson G, Ennis S, Freitag CM, Geschwind DH, Haines JL, Klauck SM, McMahon WM, Maestrini E, Miller J, Monaco AP, Nelson SF, Nurnberger JI, Oliveira G, Parr JR, Pericak-Vance MA, Piven J, Schellenberg GD, Scherer SW, Vicente AM, Wassink TH, Wijsman EM, Betancur C, Buxbaum JD, Cook EH, Gallagher L, Gill M, Hallmayer J, Paterson AD, Sutcliffe JS, Szatmari P, Vieland VJ, Hakonarson H, Devlin B. Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet. 2012 Nov 1; 21(21):4781-92.
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    29. 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. Mol Psychiatry. 2013 Jun; 18(6):635-6.
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    30. Ionita-Laza I, Makarov V. Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets. Am J Hum Genet. 2012 Jun 8; 90(6):1002-13.
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    31. 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, Crawley JN. Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice. J Neurosci. 2012 May 9; 32(19):6525-41.
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    32. 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, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH, Goin-Kochel RP, Vaz FM, Beaudet AL. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A. 2012 May 22; 109(21):7974-81.
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    33. 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. Am J Med Genet C Semin Med Genet. 2012 May 15; 160C(2):130-42.
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    34. 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-ß peptide. J Neurosci. 2012 Apr 11; 32(15):5223-36.
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    35. 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, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012 May 10; 485(7397):242-5.
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    36. 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. Am J Med Genet A. 2012 May; 158A(5):1170-7.
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    37. Grodberg D, Weinger PM, Kolevzon A, Soorya L, Buxbaum JD. Brief report: the Autism Mental Status Examination: development of a brief autism-focused exam. J Autism Dev Disord. 2012 Mar; 42(3):455-9.
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    38. 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. Mol Autism. 2012; 3(1):1.
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    39. 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. J Autism Dev Disord. 2012 Feb; 42(2):319-20.
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    40. Makarov V, O'Grady T, Cai G, Lihm J, Buxbaum JD, Yoon S. AnnTools: a comprehensive and versatile annotation toolkit for genomic variants. Bioinformatics. 2012 Mar 1; 28(5):724-5.
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    41. Puleo CM, Schmeidler J, Reichenberg A, Kolevzon A, Soorya LV, Buxbaum JD, Silverman JM. Advancing paternal age and simplex autism. Autism. 2012 Jul; 16(4):367-80.
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    42. 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, Frackelton EC, Chiavacci RM, Sakurai T, Rabin C, Middleton FA, Thomas KA, Garris M, Mentch F, Freitag CM, Steinhausen HC, Todorov AA, Reif A, Rothenberger A, Franke B, Mick EO, Roeyers H, Buitelaar J, Lesch KP, Banaschewski T, Ebstein RP, Mulas F, Oades RD, Sergeant J, Sonuga-Barke E, Renner TJ, Romanos M, Romanos J, Warnke A, Walitza S, Meyer J, Pálmason H, Seitz C, Loo SK, Smalley SL, Biederman J, Kent L, Asherson P, Anney RJ, Gaynor JW, Shaw P, Devoto M, White PS, Grant SF, Buxbaum JD, Rapoport JL, Williams NM, Nelson SF, Faraone SV, Hakonarson H. Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet. 2012 Jan; 44(1):78-84.
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    43. 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. Am J Hum Genet. 2011 Dec 9; 89(6):701-12.
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    44. 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, Bolton PF, Bourgeron T, Brennan S, Cali P, Correia C, Corsello C, Coutanche M, Dawson G, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Foley S, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Green J, Guter SJ, Hakonarson H, Holt R, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Lamb JA, Leboyer M, Le Couteur A, Leventhal BL, Lord C, Lund SC, Maestrini E, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Miller J, Minopoli F, Mirza GK, Munson J, Nelson SF, Nygren G, Oliveira G, Pagnamenta AT, Papanikolaou K, Parr JR, Parrini B, Pickles A, Pinto D, Piven J, Posey DJ, Poustka A, Poustka F, Ragoussis J, Roge B, Rutter ML, Sequeira AF, Soorya L, Sousa I, Sykes N, Stoppioni V, Tancredi R, Tauber M, Thompson AP, Thomson S, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wang K, Wassink TH, White K, Wing K, Wittemeyer K, Yaspan BL, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Geschwind DH, Haines JL, Hallmayer J, Monaco AP, Nurnberger JI, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vieland VJ, Wijsman EM, Green A, Gill M, Gallagher L, Vicente A, Ennis S. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet. 2012 Apr; 131(4):565-79.
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    45. 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. Mol Neurodegener. 2011; 6:65.
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    46. 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. Hum Genet. 2012 Mar; 131(3):435-42.
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    47. Jang C, Choi JK, Na YJ, Jang B, Wasco W, Buxbaum JD, Kim YS, Choi EK. Calsenilin regulates presenilin 1/?-secretase-mediated N-cadherin e-cleavage and ß-catenin signaling. FASEB J. 2011 Dec; 25(12):4174-83.
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    48. 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 a to schizophrenia. Biol Psychiatry. 2011 Oct 1; 70(7):626-35.
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    49. Smith J, Morgan JR, Zottoli SJ, Smith PJ, Buxbaum JD, Bloom OE. Regeneration in the era of functional genomics and gene network analysis. Biol Bull. 2011 Aug; 221(1):18-34.
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    50. 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-ß/? is associated with molecular, cellular, behavioral and cognitive schizophrenia phenotypes. Transl Psychiatry. 2011; 1:e8.
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    51. Buxbaum JD, Sklar P. Human induced pluripotent stem cells: a new model for schizophrenia? Cell Stem Cell. 2011 May 6; 8(5):461-2.
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    52. Anney RJ, Kenny EM, O'Dushlaine C, Yaspan BL, Parkhomenka E, 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. Eur J Hum Genet. 2011 Oct; 19(10):1082-9.
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    53. 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 Res. 2011 Aug; 4(4):293-6.
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    55. Buxbaum JD, Hof PR. The emerging neuroscience of autism spectrum disorders. Brain Res. 2011 Mar 22; 1380:1-2.
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    56. 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. Mol Psychiatry. 2012 Apr; 17(4):402-11.
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    57. 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, Haines JL, Blanton S, Young J, Alfonso E, Vance JM, Lam BL, Pericak-Vance MA. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet. 2011 Feb 11; 88(2):201-6.
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    58. 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 Genet. 2011; 7(2):e1001289.
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    59. Jang C, Choi JK, Kim E, Park ES, Wasco W, Buxbaum JD, Kim YS, Choi EK. Calsenilin is degraded by the ubiquitin-proteasome pathway. Biochem Biophys Res Commun. 2011 Feb 11; 405(2):180-5.
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    60. 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. Dis Markers. 2011; 30(2-3):101-10.
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    61. 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 Res. 2011 Mar 22; 1380:198-205.
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    62. 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, Hof PR, Buxbaum JD. Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication. Mol Autism. 2010; 1(1):15.
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    63. 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 Res. 2011 Feb; 4(1):28-39.
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    64. Beecham GW, Naj AC, Gilbert JR, Haines JL, Buxbaum JD, Pericak-Vance MA. PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility. Psychiatr Genet. 2010 Dec; 20(6):321-4.
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    65. 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 Res. 2011 Mar 22; 1380:98-105.
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    66. 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, Chiavacci RM, Li M, Buxbaum JD, Berkowitz RI, Hakonarson H, Grant SF. A genome-wide study reveals copy number variants exclusive to childhood obesity cases. Am J Hum Genet. 2010 Nov 12; 87(5):661-6.
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    67. Takahashi N, Sakurai T, Davis KL, Buxbaum JD. Linking oligodendrocyte and myelin dysfunction to neurocircuitry abnormalities in schizophrenia. Prog Neurobiol. 2011 Jan; 93(1):13-24.
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    68. 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, Pericak-Vance MA. Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. PLoS Genet. 2010 Sep; 6(9):e1001130.
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    69. 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 (Berl). 2010 Oct; 212(3):405-17.
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    70. 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. Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch Neurol. 2010 Dec; 67(12):1473-84.
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    71. 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, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu SH, Cochrane L, Corsello C, Crawford EL, Crossett A, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Melhem NM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Piven J, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Wing K, Wittemeyer K, Wood S, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Gallagher L, Geschwind DH, Gill M, Haines JL, Miller J, Monaco AP, Nurnberger JI, Paterson AD, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Devlin B, Ennis S, Hallmayer J. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet. 2010 Oct 15; 19(20):4072-82.
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    72. 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, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Sequeira AF, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stein O, Sykes N, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Webber C, Weksberg R, Wing K, Wittemeyer K, Wood S, Wu J, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Devlin B, Ennis S, Gallagher L, Geschwind DH, Gill M, Haines JL, Hallmayer J, Miller J, Monaco AP, Nurnberger JI, Paterson AD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010 Jul 15; 466(7304):368-72.
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    73. 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, Otieno FG, Davidson M, Weiser M, Reichenberg A, Davis KL, Friedman JI, Cappola TP, Margulies KB, Rader DJ, Grant SF, Buxbaum JD, Gur RE, Hakonarson H. Strong synaptic transmission impact by copy number variations in schizophrenia. Proc Natl Acad Sci U S A. 2010 Jun 8; 107(23):10584-9.
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    74. 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. Neurobiol Aging. 2012 Feb; 33(2):416-417.e3.
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    75. Buxbaum JD, Baron-Cohen S, Devlin B. Genetics in psychiatry: common variant association studies. Mol Autism. 2010; 1(1):6.
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    76. 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. Mol Autism. 2010; 1(1):5.
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    77. Buxbaum JD, Baron-Cohen S. Molecular Autism: accelerating and integrating research into neurodevelopmental conditions. Mol Autism. 2010; 1(1):1.
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    78. 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. J Neurosci. 2010 Feb 3; 30(5):1788-97.
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    79. 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. Mol Neurodegener. 2010; 5:1.
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    80. 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. J Alzheimers Dis. 2010; 21(2):403-9.
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    81. 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. J Alzheimers Dis. 2010; 20(1):105-11.
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    82. 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. 2009; 4(12):e8456.
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    83. 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, Elder GA, Buxbaum JD. Slc25a12 disruption alters myelination and neurofilaments: a model for a hypomyelination syndrome and childhood neurodevelopmental disorders. Biol Psychiatry. 2010 May 1; 67(9):887-94.
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    84. 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. Mol Neurodegener. 2009; 4:42.
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    85. 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. Mol Neurodegener. 2009; 4:40.
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    86. Kajiwara Y, Buxbaum JD, Grice DE. SLITRK1 binds 14-3-3 and regulates neurite outgrowth in a phosphorylation-dependent manner. Biol Psychiatry. 2009 Nov 15; 66(10):918-25.
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    87. 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. Front Neuroanat. 2009; 3:9.
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    88. 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, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, Li M, Cantor RM, Minshew NJ, Sutcliffe JS, Cook EH, Dawson G, Buxbaum JD, Grant SF, Schellenberg GD, Geschwind DH, Hakonarson H. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet. 2009 Jun; 5(6):e1000536.
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    89. Betancur C, Sakurai T, Buxbaum JD. The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders. Trends Neurosci. 2009 Jul; 32(7):402-12.
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    90. 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, Korvatska O, Schellenberg GD, Dawson G, de Bildt A, Minderaa RB, Mulder EJ, Morris AP, Bailey AJ, Monaco AP. 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. Mol Psychiatry. 2010 Sep; 15(9):954-68.
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    91. 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, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweeney JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SF, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature. 2009 May 28; 459(7246):528-33.
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    92. 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, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T, Game RM, Rudd DS, Zurawiecki D, McDougle CJ, Davis LK, Miller J, Posey DJ, Michaels S, Kolevzon A, Silverman JM, Bernier R, Levy SE, Schultz RT, Dawson G, Owley T, McMahon WM, Wassink TH, Sweeney JA, Nurnberger JI, Coon H, Sutcliffe JS, Minshew NJ, Grant SF, Bucan M, Cook EH, Buxbaum JD, Devlin B, Schellenberg GD, Hakonarson H. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature. 2009 May 28; 459(7246):569-73.
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    93. 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. Biol Psychiatry. 2009 Oct 1; 66(7):708-11.
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    94. 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. 2009; 4(4):e5071.
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    95. 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. Arch Neurol. 2009 Mar; 66(3):352-61.
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    96. Buxbaum JD. Multiple rare variants in the etiology of autism spectrum disorders. Dialogues Clin Neurosci. 2009; 11(1):35-43.
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    97. 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 Med Genomics. 2008; 1:50.
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    98. 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. Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 5; 147B(7):1152-8.
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    99. 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 Res. 2008 Aug; 1(4):251-7.
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    100. Gotham K, Risi S, Dawson G, Tager-Flusberg H, Joseph R, Carter A, Hepburn S, McMahon W, Rodier P, Hyman SL, Sigman M, Rogers S, Landa R, Spence MA, Osann K, Flodman P, Volkmar F, Hollander E, Buxbaum J, Pickles A, Lord C. A replication of the Autism Diagnostic Observation Schedule (ADOS) revised algorithms. J Am Acad Child Adolesc Psychiatry. 2008 Jun; 47(6):642-51.
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    101. 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. Behav Brain Res. 2008 Aug 22; 191(2):256-65.
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    102. 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. Am J Med Genet B Neuropsychiatr Genet. 2008 Apr 5; 147(3):408-10.
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    103. Lepagnol-Bestel AM, Maussion G, Boda B, Cardona A, Iwayama Y, Delezoide AL, Moalic JM, Muller D, Dean B, Yoshikawa T, Gorwood P, Buxbaum JD, Ramoz N, Simonneau M. SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects. Mol Psychiatry. 2008 Apr; 13(4):385-97.
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    104. 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. Mol Neurodegener. 2007; 2:23.
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    105. Buxbaum JD, Cai G, Nygren G, Chaste P, Delorme R, Goldsmith J, Råstam 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 Med Genet. 2007; 8:68.
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    106. 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. Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 5; 144B(4):484-91.
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    107. 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. J Neurochem. 2007 Aug; 102(4):1220-31.
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    108. Buxbaum JD, Georgieva L, Young JJ, Plescia C, Kajiwara Y, Jiang Y, Moskvina V, Norton N, Peirce T, Williams H, Craddock NJ, Carroll L, Corfas G, Davis KL, Owen MJ, Harroch S, Sakurai T, O'Donovan MC. Molecular dissection of NRG1-ERBB4 signaling implicates PTPRZ1 as a potential schizophrenia susceptibility gene. Mol Psychiatry. 2008 Feb; 13(2):162-72.
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    109. 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. 2007; 8:76.
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    110. 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. J Neurosci Methods. 2007 Jun 15; 163(1):76-82.
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    111. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 2007 Mar; 39(3):319-28.
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    112. 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. Mol Cell Neurosci. 2007 May; 35(1):57-63.
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    113. 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. Am J Med Genet B Neuropsychiatr Genet. 2006 Dec 5; 141B(8):861-7.
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    114. 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. Psychiatr Genet. 2006 Dec; 16(6):251-7.
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    115. 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 Res. 2006 Nov 22; 1121(1):1-11.
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    116. 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, Haroutunian V, Buxbaum JD, Craddock N, Kirov G, Owen MJ, O'Donovan MC. Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophrenia. Proc Natl Acad Sci U S A. 2006 Aug 15; 103(33):12469-74.
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    117. Buxbaum J. The genetics of the amyloidoses: interactions with immunity and inflammation. Genes Immun. 2006 Sep; 7(6):439-49.
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    118. 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. Mol Cell Biol. 2006 Jul; 26(13):5106-19.
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    119. Zaidi NF, Kuplast KG, Washicosky KJ, Kajiwara Y, Buxbaum JD, Wasco W. Calsenilin interacts with transcriptional co-repressor C-terminal binding protein(s). J Neurochem. 2006 Aug; 98(4):1290-301.
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    120. 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. Neurobiol Aging. 2007 Jun; 28(6):824-30.
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    121. Jacobson DA, Cho J, Landa LR, Tamarina NA, Roe MW, Buxbaum JD, Philipson LH. Downstream regulatory element antagonistic modulator regulates islet prodynorphin expression. Am J Physiol Endocrinol Metab. 2006 Sep; 291(3):E587-95.
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    122. 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. Biol Psychiatry. 2006 Jul 15; 60(2):186-91.
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    123. Richler E, Reichert JG, Buxbaum JD, McInnes LA. Autism and ultraconserved non-coding sequence on chromosome 7q. Psychiatr Genet. 2006 Feb; 16(1):19-23.
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    124. Grice DE, Buxbaum JD. The genetics of autism spectrum disorders. Neuromolecular Med. 2006; 8(4):451-60.
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    125. 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. Arch Gen Psychiatry. 2006 Jan; 63(1):18-24.
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    126. Haroutunian V, Davies P, Vianna C, Buxbaum JD, Purohit DP. Tau protein abnormalities associated with the progression of alzheimer disease type dementia. Neurobiol Aging. 2007 Jan; 28(1):1-7.
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    127. 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, Karlin-Neumann G, Jones HB, Willis TD, Buxbaum JD, Davis RW. Multiplexed variation scanning for 1,000 amplicons in hundreds of patients using mismatch repair detection (MRD) on tag arrays. Proc Natl Acad Sci U S A. 2005 Oct 11; 102(41):14717-22.
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    128. 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. Psychiatr Genet. 2005 Sep; 15(3):205-10.
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    129. 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. Proc Natl Acad Sci U S A. 2005 Jul 5; 102(27):9643-8.
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    130. 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. 2005 Apr 4; 16(5):451-5.
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    131. 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. Biochim Biophys Acta. 2004 Nov 5; 1690(3):238-49.
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    132. 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. Neurobiol Aging. 2004 Nov-Dec; 25(10):1263-72.
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    133. Buxbaum JD. A role for calsenilin and related proteins in multiple aspects of neuronal function. Biochem Biophys Res Commun. 2004 Oct 1; 322(4):1140-4.
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    134. 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. Hum Mol Genet. 2004 Nov 15; 13(22):2885-92.
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    135. Kolevzon A, Smith CJ, Schmeidler J, Buxbaum JD, Silverman JM. Familial symptom domains in monozygotic siblings with autism. Am J Med Genet B Neuropsychiatr Genet. 2004 Aug 15; 129B(1):76-81.
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    136. 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. J Neurochem. 2004 Aug; 90(4):1005-10.
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    137. Corfas G, Roy K, Buxbaum JD. Neuregulin 1-erbB signaling and the molecular/cellular basis of schizophrenia. Nat Neurosci. 2004 Jun; 7(6):575-80.
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    138. Zaidi NF, Thomson EE, Choi EK, Buxbaum JD, Wasco W. Intracellular calcium modulates the nuclear translocation of calsenilin. J Neurochem. 2004 May; 89(3):593-601.
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    139. 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. Mol Cell Neurosci. 2004 Apr; 25(4):642-9.
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    140. 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. Am J Psychiatry. 2004 Apr; 161(4):662-9.
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    141. 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. Mol Psychiatry. 2004 Feb; 9(2):144-50.
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    142. 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. J Neurosci. 2003 Oct 8; 23(27):9097-106.
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    143. 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. J Neuropathol Exp Neurol. 2003 Oct; 62(10):999-1005.
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    144. Gandy S, Martins RN, Buxbaum J. Molecular and cellular basis for anti-amyloid therapy in Alzheimer disease. Alzheimer Dis Assoc Disord. 2003 Oct-Dec; 17(4):259-66.
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    145. 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. J Neurosci. 2003 Jul 2; 23(13):5407-15.
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    146. Choi EK, Miller JS, Zaidi NF, Salih E, Buxbaum JD, Wasco W. Phosphorylation of calsenilin at Ser63 regulates its cleavage by caspase-3. Mol Cell Neurosci. 2003 Jul; 23(3):495-506.
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    147. Davis KL, Stewart DG, Friedman JI, Buchsbaum M, Harvey PD, Hof PR, Buxbaum J, Haroutunian V. White matter changes in schizophrenia: evidence for myelin-related dysfunction. Arch Gen Psychiatry. 2003 May; 60(5):443-56.
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    148. Vattemi G, Engel WK, McFerrin J, Pastorino L, Buxbaum JD, Askanas V. BACE1 and BACE2 in pathologic and normal human muscle. Exp Neurol. 2003 Feb; 179(2):150-8.
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    149. 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. Mol Psychiatry. 2003 Feb; 8(2):186-94.
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    150. Bespalova IN, Buxbaum JD. Disease susceptibility genes for autism. Ann Med. 2003; 35(4):274-81.
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    151. Hof PR, Haroutunian V, Copland C, Davis KL, Buxbaum JD. Molecular and cellular evidence for an oligodendrocyte abnormality in schizophrenia. Neurochem Res. 2002 Oct; 27(10):1193-200.
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    152. 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. Nat Genet. 2002 Nov; 32(3):411-4.
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    153. Lilliehook C, Chan S, Choi EK, Zaidi NF, Wasco W, Mattson MP, Buxbaum JD. Calsenilin enhances apoptosis by altering endoplasmic reticulum calcium signaling. Mol Cell Neurosci. 2002 Apr; 19(4):552-9.
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    154. 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. Front Biosci. 2002 Apr 1; 7:a50-9.
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    155. 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). Mol Cell Neurosci. 2002 Feb; 19(2):175-85.
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    156. 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. Am J Med Genet. 2002 Jan 8; 114(1):64-73.
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    157. 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. Mol Psychiatry. 2002; 7(3):311-6.
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    158. 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. 2002; 114(1):247-63.
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    159. 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. 2001 Dec 8; 358(9297):1962-4.
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    160. Parvathy S, Davies P, Haroutunian V, Purohit DP, Davis KL, Mohs RC, Park H, Moran TM, Chan JY, Buxbaum JD. Correlation between Abetax-40-, Abetax-42-, and Abetax-43-containing amyloid plaques and cognitive decline. Arch Neurol. 2001 Dec; 58(12):2025-32.
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    161. 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 Res Mol Brain Res. 2001 Nov 30; 96(1-2):14-20.
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    162. 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. J Biol Chem. 2001 Nov 2; 276(44):41005-13.
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    163. Sabo SL, Ikin AF, Buxbaum JD, Greengard P. The Alzheimer amyloid precursor protein (APP) and FE65, an APP-binding protein, regulate cell movement. J Cell Biol. 2001 Jun 25; 153(7):1403-14.
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    164. Friedhoff LT, Cullen EI, Geoghagen NS, Buxbaum JD. Treatment with controlled-release lovastatin decreases serum concentrations of human beta-amyloid (A beta) peptide. Int J Neuropsychopharmacol. 2001 Jun; 4(2):127-30.
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    165. 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. Am J Hum Genet. 2001 Jun; 68(6):1514-20.
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    166. 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. Proc Natl Acad Sci U S A. 2001 Apr 10; 98(8):4746-51.
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    167. 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. J Biol Chem. 2001 Jun 1; 276(22):19197-204.
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    168. 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. Arch Neurol. 2001 Mar; 58(3):487-92.
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    169. Teng MH, Yin JY, Vidal R, Ghiso J, Kumar A, Rabenou R, Shah A, Jacobson DR, Tagoe C, Gallo G, Buxbaum J. Amyloid and nonfibrillar deposits in mice transgenic for wild-type human transthyretin: a possible model for senile systemic amyloidosis. Lab Invest. 2001 Mar; 81(3):385-96.
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    170. 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. Neurosci Lett. 2000 Nov 24; 294(3):135-8.
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    171. 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. Mol Cell Biol. 2000 Oct; 20(20):7706-15.
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    172. Leissring MA, Yamasaki TR, Wasco W, Buxbaum JD, Parker I, LaFerla FM. Calsenilin reverses presenilin-mediated enhancement of calcium signaling. Proc Natl Acad Sci U S A. 2000 Jul 18; 97(15):8590-3.
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    173. Teng MH, Rosen S, Gorny MK, Alexander A, Buxbaum J. Gamma heavy chain disease in man: independent structural abnormalities and reduced transcription of a functionally rearranged lambda L-chain gene result in the absence of L-chains. Blood Cells Mol Dis. 2000 Jun; 26(3):177-85.
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    174. Rio C, Buxbaum JD, Peschon JJ, Corfas G. Tumor necrosis factor-alpha-converting enzyme is required for cleavage of erbB4/HER4. J Biol Chem. 2000 Apr 7; 275(14):10379-87.
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    175. Perry E, Martin-Ruiz C, Lee M, Griffiths M, Johnson M, Piggott M, Haroutunian V, Buxbaum JD, Nãsland J, Davis K, Gotti C, Clementi F, Tzartos S, Cohen O, Soreq H, Jaros E, Perry R, Ballard C, McKeith I, Court J. Nicotinic receptor subtypes in human brain ageing, Alzheimer and Lewy body diseases. Eur J Pharmacol. 2000 Mar 30; 393(1-3):215-22.
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    176. 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. 2000 Mar 22-29; 283(12):1571-7.
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    177. 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. Am J Pathol. 2000 Jan; 156(1):15-20.
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    178. Soares M, Buxbaum J, Sirugo G, Coelho T, Sousa A, Kastner D, Saraiva MJ. Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions. Hum Genet. 1999 Jun; 104(6):480-5.
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    179. 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. J Biol Chem. 1999 Mar 19; 274(12):7952-7.
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    180. 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. J Neurosci. 1998 Dec 1; 18(23):9629-37.
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    181. 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. J Neurochem. 1998 Nov; 71(5):1920-5.
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    182. 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. J Biol Chem. 1998 Oct 23; 273(43):27765-7.
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    183. 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. Nat Med. 1998 Oct; 4(10):1177-81.
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    184. 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, Sisodia SS, Wang R, Greengard P, Gandy S. Estrogen reduces neuronal generation of Alzheimer beta-amyloid peptides. Nat Med. 1998 Apr; 4(4):447-51.
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    185. 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. J Neurochem. 1998 Feb; 70(2):524-30.
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    186. 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. 1998 Jan 26; 9(2):217-21.
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    187. Gaiser RR, Venkateswaren P, Cheek TG, Persiley E, Buxbaum J, Hedge J, Joyce TH, Gutsche BB. Comparison of 0.25% ropivacaine and bupivacaine for epidural analgesia for labor and vaginal delivery. J Clin Anesth. 1997 Nov; 9(7):564-8.
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    188. 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, Checler F. 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. Mol Med. 1997 Oct; 3(10):695-707.
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    189. 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. J Neurochem. 1997 Jun; 68(6):2523-9.
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    190. 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. J Biol Chem. 1997 Mar 7; 272(10):6399-405.
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    191. 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. J Biol Chem. 1996 Dec 13; 271(50):31783-6.
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    192. Clegg DO, Reda DJ, Weisman MH, Cush JJ, Vasey FB, Schumacher HR, Budiman-Mak E, Balestra DJ, Blackburn WD, Cannon GW, Inman RD, Alepa FP, Mejias E, Cohen MR, Makkena R, Mahowald ML, Higashida J, Silverman SL, Parhami N, Buxbaum J, Haakenson CM, Ward RH, Manaster BJ, Anderson RJ, Henderson WG, et al. Comparison of sulfasalazine and placebo in the treatment of reactive arthritis (Reiter's syndrome). A Department of Veterans Affairs Cooperative Study. Arthritis Rheum. 1996 Dec; 39(12):2021-7.
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    193. Clegg DO, Reda DJ, Weisman MH, Blackburn WD, Cush JJ, Cannon GW, Mahowald ML, Schumacher HR, Taylor T, Budiman-Mak E, Cohen MR, Vasey FB, Luggen ME, Mejias E, Silverman SL, Makkena R, Alepa FP, Buxbaum J, Haakenson CM, Ward RH, Manaster BJ, Anderson RJ, Ward JR, Henderson WG. Comparison of sulfasalazine and placebo in the treatment of ankylosing spondylitis. A Department of Veterans Affairs Cooperative Study. Arthritis Rheum. 1996 Dec; 39(12):2004-12.
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    194. Buxbaum J, Mylinski N, Parente FR. Surface EMG reliability using spectral analysis. J Oral Rehabil. 1996 Nov; 23(11):771-5.
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    195. 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. J Biol Chem. 1996 Oct 4; 271(40):24670-4.
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    196. 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. Am J Hum Genet. 1996 Sep; 59(3):644-52.
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    197. Gratz I, Allen E, Afshar M, Joslyn AF, Buxbaum J, Prilliman B. The effects of the menstrual cycle on the incidence of emesis and efficacy of ondansetron. Anesth Analg. 1996 Sep; 83(3):565-9.
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    198. 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. Am J Pathol. 1996 Sep; 149(3):1063-71.
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    199. Garte SJ, Trachman J, Crofts F, Toniolo P, Buxbaum J, Bayo S, Taioli E. Distribution of composite CYP1A1 genotypes in Africans, African-Americans and Caucasians. Hum Hered. 1996 May-Jun; 46(3):121-7.
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    200. Hack G, Buxbaum J, Gunderson R. Improved method to construct an anterior deprogramming device. J Prosthet Dent. 1996 Mar; 75(3):337.
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    201. Buxbaum JD, Greengard P. Regulation of APP processing by intra- and intercellular signals. Ann N Y Acad Sci. 1996 Jan 17; 777:327-31.
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    202. Buxbaum J. The amyloidoses. Mt Sinai J Med. 1996 Jan; 63(1):16-23.
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    203. 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. Proc Natl Acad Sci U S A. 1994 May 10; 91(10):4489-93.
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    204. Gandy S, Caporaso G, Buxbaum J, Frangione B, Greengard P. APP processing, A beta-amyloidogenesis, and the pathogenesis of Alzheimer's disease. Neurobiol Aging. 1994 Mar-Apr; 15(2):253-6.
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    205. Buxbaum JD, Christensen JL, Ruefli AA, Greengard P, Loring JF. Expression of APP in brains of transgenic mice containing the entire human APP gene. Biochem Biophys Res Commun. 1993 Dec 15; 197(2):639-45.
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    206. Buxbaum JD, Koo EH, Greengard P. Protein phosphorylation inhibits production of Alzheimer amyloid beta/A4 peptide. Proc Natl Acad Sci U S A. 1993 Oct 1; 90(19):9195-8.
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    207. 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. Ann N Y Acad Sci. 1993 Sep 24; 695:117-21.
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    208. 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. Ann N Y Acad Sci. 1992 Dec 31; 674:203-17.
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    209. 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. Proc Natl Acad Sci U S A. 1992 Nov 1; 89(21):10075-8.
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    210. 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. Neurobiol Aging. 1992 Sep-Oct; 13(5):601-3.
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    211. Buxbaum J. Therapy for the seronegative spondyloarthropathies. Curr Opin Rheumatol. 1992 Aug; 4(4):500-6.
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    212. Caporaso GL, Gandy SE, Buxbaum JD, Ramabhadran TV, Greengard P. Protein phosphorylation regulates secretion of Alzheimer beta/A4 amyloid precursor protein. Proc Natl Acad Sci U S A. 1992 Apr 1; 89(7):3055-9.
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    213. Buxbaum J. Mechanisms of disease: monoclonal immunoglobulin deposition. Amyloidosis, light chain deposition disease, and light and heavy chain deposition disease. Hematol Oncol Clin North Am. 1992 Apr; 6(2):323-46.
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    214. Caporaso GL, Gandy SE, Buxbaum JD, Greengard P. Chloroquine inhibits intracellular degradation but not secretion of Alzheimer beta/A4 amyloid precursor protein. Proc Natl Acad Sci U S A. 1992 Mar 15; 89(6):2252-6.
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    215. Kumar A, Martinez-Tarquino C, Maria-Forte A, Kumar P, Alarcon-Segovia D, Granados J, Pandey JP, Buxbaum J, Schur PH. Immunoglobulin heavy chain constant-region gene polymorphism in systemic lupus erythematosus. Arthritis Rheum. 1991 Dec; 34(12):1553-6.
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    216. 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. Proc Natl Acad Sci U S A. 1990 Aug; 87(15):6003-6.
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    217. Itescu S, Brancato LJ, Buxbaum J, Gregersen PK, Rizk CC, Croxson TS, Solomon GE, Winchester R. A diffuse infiltrative CD8 lymphocytosis syndrome in human immunodeficiency virus (HIV) infection: a host immune response associated with HLA-DR5. Ann Intern Med. 1990 Jan 1; 112(1):3-10.
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    218. Buxbaum JD, Dudai Y. In vivo protein phosphorylation in Drosophila mutants defective in learning and memory. Neurosci Lett. 1989 Oct 9; 104(3):351-5.
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    219. Buxbaum J. Therapy for the seronegative spondyloarthropathies. Curr Opin Rheumatol. 1989 Aug; 1(2):159-64.
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    220. Gallo G, Picken M, Buxbaum J, Frangione B. The spectrum of monoclonal immunoglobulin deposition disease associated with immunocytic dyscrasias. Semin Hematol. 1989 Jul; 26(3):234-45.
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    221. 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. J Biol Chem. 1989 Jun 5; 264(16):9344-51.
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    222. Gallo G, Picken M, Frangione B, Buxbaum J. Nonamyloidotic monoclonal immunoglobulin deposits lack amyloid P component. Mod Pathol. 1988 Nov; 1(6):453-6.
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    223. Alexander A, Anicito I, Buxbaum J. Gamma heavy chain disease in man. Genomic sequence reveals two noncontiguous deletions in a single gene. J Clin Invest. 1988 Oct; 82(4):1244-52.
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    224. 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. Anal Biochem. 1988 Feb 15; 169(1):209-15.
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    225. Goñi F, Chuba J, Buxbaum J, Frangione B. A double monoclonal IgG1 kappa and IgG2 kappa in a single myeloma patient. Variation in clonal products and therapeutic responses. J Immunol. 1988 Jan 15; 140(2):551-7.
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    226. Buxbaum JD, Dudai Y. In vitro protein phosphorylation in head preparations from normal and mutant Drosophila melanogaster. J Neurochem. 1987 Oct; 49(4):1161-73.
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    227. Neugarten J, Gallo GR, Buxbaum J, Katz LA, Rubenstein J, Baldwin DS. Amyloidosis in subcutaneous heroin abusers ("skin poppers' amyloidosis"). Am J Med. 1986 Oct; 81(4):635-40.
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    228. Buxbaum J. Aberrant immunoglobulin synthesis in light chain amyloidosis. Free light chain and light chain fragment production by human bone marrow cells in short-term tissue culture. J Clin Invest. 1986 Sep; 78(3):798-806.
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    229. Picken MM, Gallo G, Buxbaum J, Frangione B. Characterization of renal amyloid derived from the variable region of the lambda light chain subgroup II. Am J Pathol. 1986 Jul; 124(1):82-7.
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    230. Meruelo D, Kornreich R, Rossomando A, Pampeno C, Boral A, Silver JL, Buxbaum J, Weiss EH, Devlin JJ, Mellor AL, et al. Lack of class I H-2 antigens in cells transformed by radiation leukemia virus is associated with methylation and rearrangement of H-2 DNA. Proc Natl Acad Sci U S A. 1986 Jun; 83(12):4504-8.
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    231. Dudai Y, Buxbaum J, Corfas G, Orgad S, Segal D, Sher B, Uzzan A, Zvi S. Defective cAMP metabolism and defective memory in Drosophila. Acta Biochim Biophys Hung. 1986; 21(3):177-92.
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    232. Myslinski NR, Buxbaum JD, Parente FJ. The use of electromyography to quantify muscle pain. Methods Find Exp Clin Pharmacol. 1985 Oct; 7(10):551-6.
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    233. Alexander A, Rosen S, Buxbaum J. Human immunoglobulin genes in health and disease. Clin Immunol Rev. 1985; 4(1):31-94.
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    234. Meruelo D, Rossomando A, Offer M, Buxbaum J, Pellicer A. Association of endogenous viral loci with genes encoding murine histocompatibility and lymphocyte differentiation antigens. Proc Natl Acad Sci U S A. 1983 Aug; 80(16):5032-6.
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    235. Bennett RB, Buxbaum JD. Epidemiologic studies of mandibular dysfunction: a critical review. J Prosthet Dent. 1983 Mar; 49(3):449.
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    236. Graham MM, Buxbaum J, Staling LM. A study of occlusal relationships and the incidence of myofacial pain. J Prosthet Dent. 1982 May; 47(5):549-55.
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    237. Buxbaum JD, Parente FJ, Ramsey WO, Staling LM. A comparison of centric relation with maximum intercuspation based on quantitative electromyography. J Oral Rehabil. 1982 Jan; 9(1):45-51.
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    238. Ellison J, Buxbaum J, Hood L. Nucleotide sequence of a human immunoglobulin C gamma 4 gene. DNA. 1981; 1(1):11-8.
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    239. Alexander A, Barritault D, Buxbaum J. Gamma heavy chain disease in man: translation and partial purification of mRNA coding for the deleted protein. Proc Natl Acad Sci U S A. 1978 Oct; 75(10):4774-8.
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    240. Buxbaum J, Parente FJ, Pridgeon CT, Graham M, Ramsey W, Staling LM. The intrasubject reliability of an EMG integrator-averager for bilateral masseter activity. J Baltimore Coll Dent Surg. 1977 Dec; 32(2):88-96.
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    241. Franklin EC, Buxbaum J. Immunoglobulin structure, synthesis, secretion, and relation to neoplasms of B cells. Clin Haematol. 1977 Jun; 6(2):503-32.
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    242. Andersson J, Buxbaum J, Citronbaum R, Douglas S, Forni L, Melchers F, Pernis B, Stott D. IgM-producing tumors in the BALB-c mouse: a model for B-cell maturation. J Exp Med. 1974 Sep 1; 140(3):742-63.
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    243. Prend'homme JL, Buxbaum J, Scharff MD. Mutagenesis of mouse myeloma cells with 'Melphalan'. Nature. 1973 Oct 12; 245(5424):320-2.
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    244. Buxbaum J, Scharff MD. The synthesis, assembly, and secretion of gamma globulin by mouse myeloma cells. VI. Assembly of IgM proteins. J Exp Med. 1973 Jul 1; 138(1):278-88.
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    245. Buxbaum J. An attempt to communicate scientific information to the public via a non-institutional format. Ann N Y Acad Sci. 1972; 196(4):285-90.
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    246. Baumal R, Coffino P, Bargellesi A, Buxbaum J, Laskov R, Scharff MD. The regulation of immunoglobulin synthesis and assembly. Ann N Y Acad Sci. 1971 Dec 31; 190:235-49.
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    247. Buxbaum J, Zolla S, Scharff MD, Franklin EC. Synthesis and assembly of immunoglobulins by malignant human plasmacytes and lymphocytes. II. Heterogeneity of assembly in cells producing IgM proteins. J Exp Med. 1971 May 1; 133(5):1118-30.
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    248. Scharff MD, Bargellesi A, Baumal R, Buxbaum J, Coffino P, Laskov R. Variations in the synthesis and assembly of immunoglobulins by mouse myeloma cells: a genetic and biochemical analysis. J Cell Physiol. 1970 Dec; 76(3):331-48.
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    249. Buxbaum J, Franklin EC, Scharff MD. Immunoglobulin M heavy chain disease: intracellular origin of the mu chain fragment. Science. 1970 Aug 21; 169(3947):770-3.
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    250. Zolla S, Buxbaum J, Franklin EC, Scharff MD. Synthesis and assembly of immunoglobulins by malignant human plasmacytes. I. Myelomas producing gamma-chains and light chains. J Exp Med. 1970 Jul 1; 132(1):148-62.
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    251. Buxbaum J, Furgerson W. Atrial fibrillation in severe anemia. JAMA. 1970 Jun 15; 212(11):1958-9.
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    252. Buxbaum JD. Initial report on the development and evaluation of the dental assistants course in dental radiology. J Md State Dent Assoc. 1970 Apr; 13(1):8-11.
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    253. Staling LM, Buxbaum JD. Mandibular motion and "vertical dimension". J Md State Dent Assoc. 1969 Apr; 12(1):16-21.
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    254. PROUTT LM, BUXBAUM J, EHRLICH F, OSTER RH. Basic physiologic studies on normal children under mild chlorpromazine sedation. Bull Sch Med Univ Md. 1958 Jan; 43(1):1-6.
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    255. BUXBAUM JD, KOHN H, PROUTT LM, OSTER RH. The effect of diet on the deposition of glycoprotein in the teeth and its relationship to dental caries in the Syrian hamster. J Dent Res. 1957 Apr; 36(2):173-81.
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