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1.

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomić H, Frosch MP, Thonberg H, Maier W, Roshchupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT Jr, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Uitterlinden AGA, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, Quinn JF, Sacchinelli E, Raj A, Spalletta G, Raskind M, Caltagirone C, Bossù P, Orfei MD, Reisberg B, Clarke R, Reitz C, Smith AD, Ringman JM, Warden D, Roberson ED, Wilcock G, Rogaeva E, Bruni AC, Rosen HJ, Gallo M, Rosenberg RN, Ben-Shlomo Y, Sager MA, Mecocci P, Saykin AJ, Pastor P, Cuccaro ML, Vance JM, Schneider JA, Schneider LS, Slifer S, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tang M, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Saba Y; Alzheimer Disease Genetics Consortium (ADGC); European Alzheimer’s Disease Initiative (EADI); Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE); Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Pilotto A, Bullido MJ, Peters O, Crane PK, Bennett D, Bosco P, Coto E, Boccardi V, De Jager PL, Lleo A, Warner N, Lopez OL, Ingelsson M, Deloukas P, Cruchaga C, Graff C, Gwilliam R, Fornage M, Goate AM, Sanchez-Juan P, Kehoe PG, Amin N, Ertekin-Taner N, Berr C, Debette S, Love S, Launer LJ, Younkin SG, Dartigues JF, Corcoran C, Ikram MA, Dickson DW, Nicolas G, Campion D, Tschanz J, Schmidt H, Hakonarson H, Clarimon J, Munger R, Schmidt R, Farrer LA, Van Broeckhoven C, O'Donovan MC, DeStefano AL, Jones L, Haines JL, Deleuze JF, Owen MJ, Gudnason V, Mayeux R, Escott-Price V, Psaty BM, Ramirez A, Wang LS, Ruiz A, van Duijn CM, Holmans PA, Seshadri S, Williams J, Amouyel P, Schellenberg GD, Lambert JC, Pericak-Vance MA.

Nat Genet. 2019 Aug 15. doi: 10.1038/s41588-019-0495-7. [Epub ahead of print]

PMID:
31417202
2.

SpHincterotomy for Acute Recurrent Pancreatitis Randomized Trial: Rationale, Methodology, and Potential Implications.

Coté GA, Durkalski-Mauldin VL, Serrano J, Klintworth E, Williams AW, Cruz-Monserrate Z, Arain M, Buxbaum JL, Conwell DL, Fogel EL, Freeman ML, Gardner TB, van Geenen E, Groce JR, Jonnalagadda SS, Keswani RN, Menon S, Moffatt DC, Papachristou GI, Ross A, Tarnasky PR, Wang AY, Wilcox CM, Hamilton F, Yadav D; SHARP Consortium.

Pancreas. 2019 Aug 9. doi: 10.1097/MPA.0000000000001370. [Epub ahead of print]

PMID:
31404020
3.

Precision medicines need precision patient assistance programs.

Fendrick AM, Buxbaum JD.

Am J Manag Care. 2019 Jul;25(7):317-318.

4.

Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort.

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, Breshnahan M, Levine SZ, Parner ET, Hansen SN, Hultman C, Reichenberg A, Sandin S.

JAMA Psychiatry. 2019 Jul 17. doi: 10.1001/jamapsychiatry.2019.1411. [Epub ahead of print]

PMID:
31314057
5.

A genome-wide scan statistic framework for whole-genome sequence data analysis.

He Z, Xu B, Buxbaum J, Ionita-Laza I.

Nat Commun. 2019 Jul 9;10(1):3018. doi: 10.1038/s41467-019-11023-0.

6.

Safety and efficacy of digital single-operator pancreatoscopy for obstructing pancreatic ductal stones.

Brewer Gutierrez OI, Raijman I, Shah RJ, Elmunzer BJ, Webster GJM, Pleskow D, Sherman S, Sturgess RP, Sejpal DV, Ko C, Maurano A, Adler DG, Mullady DK, Strand DS, DiMaio CJ, Piraka C, Sharahia R, Dbouk MH, Han S, Spiceland CM, Bekkali NLH, Gabr M, Bick B, Dwyer LK, Han D, Buxbaum J, Zulli C, Cosgrove N, Wang AY, Carr-Locke D, Kerdsirichairat T, Aridi HD, Moran R, Shah S, Yang J, Sanaei O, Parsa N, Kumbhari V, Singh VK, Khashab MA.

Endosc Int Open. 2019 Jul;7(7):E896-E903. doi: 10.1055/a-0889-7743. Epub 2019 Jul 3.

7.

Science On The QT: The Autobiography of a Transgender Scientist by Ben Barres MIT Press, Cambridge, MA, USA.

Buxbaum J.

FASEB J. 2019 Jul;33(7):7796-7798. doi: 10.1096/fj.201900595. No abstract available.

PMID:
31246516
8.

ASGE guideline on the role of endoscopy for bleeding from chronic radiation proctopathy.

Lee JK, Agrawal D, Thosani N, Al-Haddad M, Buxbaum JL, Calderwood AH, Fishman DS, Fujii-Lau LL, Jamil LH, Jue TL, Khashab MA, Law JK, Naveed M, Qumseya BJ, Sawhney MS, Storm AC, Yang J, Wani SB.

Gastrointest Endosc. 2019 Aug;90(2):171-182.e1. doi: 10.1016/j.gie.2019.04.234. Epub 2019 Jun 22.

PMID:
31235260
9.

Recessive gene disruptions in autism spectrum disorder.

Doan RN, Lim ET, De Rubeis S, Betancur C, Cutler DJ, Chiocchetti AG, Overman LM, Soucy A, Goetze S; Autism Sequencing Consortium, Freitag CM, Daly MJ, Walsh CA, Buxbaum JD, Yu TW.

Nat Genet. 2019 Jul;51(7):1092-1098. doi: 10.1038/s41588-019-0433-8. Epub 2019 Jun 17.

PMID:
31209396
10.

The revised Atlanta criteria more accurately reflect severity of post-ERCP pancreatitis compared to the consensus criteria.

Smeets X, Bouhouch N, Buxbaum J, Zhang H, Cho J, Verdonk RC, Römkens T, Venneman NG, Kats I, Vrolijk JM, Hemmink G, Otten A, Tan A, Elmunzer BJ, Cotton PB, Drenth J, van Geenen E.

United European Gastroenterol J. 2019 May;7(4):557-564. doi: 10.1177/2050640619834839. Epub 2019 Feb 27.

11.

ASGE guideline on the role of endoscopy in the evaluation and management of choledocholithiasis.

ASGE Standards of Practice Committee, Buxbaum JL, Abbas Fehmi SM, Sultan S, Fishman DS, Qumseya BJ, Cortessis VK, Schilperoort H, Kysh L, Matsuoka L, Yachimski P, Agrawal D, Gurudu SR, Jamil LH, Jue TL, Khashab MA, Law JK, Lee JK, Naveed M, Sawhney MS, Thosani N, Yang J, Wani SB.

Gastrointest Endosc. 2019 Jun;89(6):1075-1105.e15. doi: 10.1016/j.gie.2018.10.001. Epub 2019 Apr 9.

PMID:
30979521
12.

Variable DNA methylation in neonates mediates the association between prenatal smoking and birth weight.

Hannon E, Schendel D, Ladd-Acosta C, Grove J, Hansen CS, Hougaard DM, Bresnahan M, Mors O, Hollegaard MV, Bækvad-Hansen M, Hornig M, Mortensen PB, Børglum AD, Werge T, Pedersen MG, Nordentoft M; iPSYCH-Broad ASD Group, Buxbaum JD, Daniele Fallin M, Bybjerg-Grauholm J, Reichenberg A, Mill J.

Philos Trans R Soc Lond B Biol Sci. 2019 Apr 15;374(1770):20180120. doi: 10.1098/rstb.2018.0120.

PMID:
30966880
13.

Dynamic liver test patterns do not predict bile duct stones.

Yu CY, Roth N, Jani N, Cho J, Van Dam J, Selby R, Buxbaum J.

Surg Endosc. 2019 Mar 25. doi: 10.1007/s00464-018-06620-x. [Epub ahead of print]

PMID:
30911921
14.

Treatment of hereditary and acquired forms of transthyretin amyloidosis in the era of personalized medicine: the role of randomized controlled trials.

Buxbaum JN.

Amyloid. 2019 Jun;26(2):55-65. doi: 10.1080/13506129.2019.1575201. Epub 2019 Mar 24.

PMID:
30907141
15.

Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats.

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.

Cereb Cortex. 2019 May 1;29(5):2228-2244. doi: 10.1093/cercor/bhz029.

16.

Recurrence Risk of Autism in Siblings and Cousins: A Multinational, Population-Based Study.

Hansen SN, Schendel DE, Francis RW, Windham GC, Bresnahan M, Levine SZ, Reichenberg A, Gissler M, Kodesh A, Bai D, Yip BHK, Leonard H, Sandin S, Buxbaum JD, Hultman C, Sourander A, Glasson EJ, Wong K, Öberg R, Parner ET.

J Am Acad Child Adolesc Psychiatry. 2019 Mar 6. pii: S0890-8567(19)30172-8. doi: 10.1016/j.jaac.2018.11.017. [Epub ahead of print]

PMID:
30851399
17.

Rigor in science and science reporting: updated guidelines for submissions to Molecular Autism.

Buxbaum JD, Baron-Cohen S, Anagnostou E, Ashwin C, Betancur C, Chakrabarti B, Crawley JN, Hoekstra RA, Hof PR, Lai MC, Lombardo MV, Schumann CM.

Mol Autism. 2019 Feb 4;10:6. doi: 10.1186/s13229-018-0249-x. eCollection 2019. No abstract available.

18.

Parental Age and Differential Estimates of Risk for Neuropsychiatric Disorders: Findings From the Danish Birth Cohort.

Janecka M, Hansen SN, Modabbernia A, Browne HA, Buxbaum JD, Schendel DE, Reichenberg A, Parner ET, Grice DE.

J Am Acad Child Adolesc Psychiatry. 2019 Jun;58(6):618-627. doi: 10.1016/j.jaac.2018.09.447. Epub 2019 Feb 27.

PMID:
30825496
19.

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomić H, Frosch MP, Thonberg H, Maier W, Roshchupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT Jr, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Andre Uitterlinden AG, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, Quinn JF, Sacchinelli E, Raj A, Spalletta G, Raskind M, Caltagirone C, Bossù P, Orfei MD, Reisberg B, Clarke R, Reitz C, Smith AD, Ringman JM, Warden D, Roberson ED, Wilcock G, Rogaeva E, Bruni AC, Rosen HJ, Gallo M, Rosenberg RN, Ben-Shlomo Y, Sager MA, Mecocci P, Saykin AJ, Pastor P, Cuccaro ML, Vance JM, Schneider JA, Schneider LS, Slifer S, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tang M, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Saba Y, Pilotto A, Bullido MJ, Peters O, Crane PK, Bennett D, Bosco P, Coto E, Boccardi V, De Jager PL, Lleo A, Warner N, Lopez OL, Ingelsson M, Deloukas P, Cruchaga C, Graff C, Gwilliam R, Fornage M, Goate AM, Sanchez-Juan P, Kehoe PG, Amin N, Ertekin-Taner N, Berr C, Debette S, Love S, Launer LJ, Younkin SG, Dartigues JF, Corcoran C, Ikram MA, Dickson DW, Nicolas G, Campion D, Tschanz J, Schmidt H, Hakonarson H, Clarimon J, Munger R, Schmidt R, Farrer LA, Van Broeckhoven C, C O'Donovan M, DeStefano AL, Jones L, Haines JL, Deleuze JF, Owen MJ, Gudnason V, Mayeux R, Escott-Price V, Psaty BM, Ramirez A, Wang LS, Ruiz A, van Duijn CM, Holmans PA, Seshadri S, Williams J, Amouyel P, Schellenberg GD, Lambert JC, Pericak-Vance MA; Alzheimer Disease Genetics Consortium (ADGC),; European Alzheimer’s Disease Initiative (EADI),; Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE),; Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES),.

Nat Genet. 2019 Mar;51(3):414-430. doi: 10.1038/s41588-019-0358-2. Epub 2019 Feb 28. Erratum in: Nat Genet. 2019 Aug 15;:.

PMID:
30820047
20.

Identification of common genetic risk variants for autism spectrum disorder.

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, Bækvad-Hansen M, Cerrato F, Chambert K, Christensen JH, Churchhouse C, Dellenvall K, Demontis D, De Rubeis S, Devlin B, Djurovic S, Dumont AL, Goldstein JI, Hansen CS, Hauberg ME, Hollegaard MV, Hope S, Howrigan DP, Huang H, Hultman CM, Klei L, Maller J, Martin J, Martin AR, Moran JL, Nyegaard M, Nærland T, Palmer DS, Palotie A, Pedersen CB, Pedersen MG, dPoterba T, Poulsen JB, Pourcain BS, Qvist P, Rehnström K, Reichenberg A, Reichert J, Robinson EB, Roeder K, Roussos P, Saemundsen E, Sandin S, Satterstrom FK, Davey Smith G, Stefansson H, Steinberg S, Stevens CR, Sullivan PF, Turley P, Walters GB, Xu X; Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium; BUPGEN; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; 23andMe Research Team, Stefansson K, Geschwind DH, Nordentoft M, Hougaard DM, Werge T, Mors O, Mortensen PB, Neale BM, Daly MJ, Børglum AD.

Nat Genet. 2019 Mar;51(3):431-444. doi: 10.1038/s41588-019-0344-8. Epub 2019 Feb 25.

21.

Intestinal dysmotility in a zebrafish (Danio rerio) shank3a;shank3b mutant model of autism.

James DM, Kozol RA, Kajiwara Y, Wahl AL, Storrs EC, Buxbaum JD, Klein M, Moshiree B, Dallman JE.

Mol Autism. 2019 Jan 31;10:3. doi: 10.1186/s13229-018-0250-4. eCollection 2019.

22.

Papillary dilation for bile duct stones: start big but proceed with caution.

Buxbaum J.

Endoscopy. 2019 Feb;51(2):113-114. doi: 10.1055/a-0732-5450. Epub 2019 Jan 29.

PMID:
30695806
23.

Transthyretin deposition in the eye in the era of effective therapy for hereditary ATTRV30M amyloidosis.

Buxbaum JN, Brannagan T 3rd, Buades-Reinés J, Cisneros E, Conceicao I, Kyriakides T, Merlini G, Obici L, Plante-Bordeneuve V, Rousseau A, Sekijima Y, Imai A, Waddington Cruz M, Yamada M.

Amyloid. 2019 Mar;26(1):10-14. doi: 10.1080/13506129.2018.1554563. Epub 2019 Jan 24.

PMID:
30675806
24.

Identification of transthyretin as a novel interacting partner for the δ subunit of GABAA receptors.

Zhou L, Tang X, Li X, Bai Y, Buxbaum JN, Chen G.

PLoS One. 2019 Jan 7;14(1):e0210094. doi: 10.1371/journal.pone.0210094. eCollection 2019.

25.

Amyloid nomenclature 2018: recommendations by the International Society of Amyloidosis (ISA) nomenclature committee.

Benson MD, Buxbaum JN, Eisenberg DS, Merlini G, Saraiva MJM, Sekijima Y, Sipe JD, Westermark P.

Amyloid. 2018 Dec;25(4):215-219. doi: 10.1080/13506129.2018.1549825. Epub 2019 Jan 7.

PMID:
30614283
26.

GJA1 (connexin43) is a key regulator of Alzheimer's disease pathogenesis.

Kajiwara Y, Wang E, Wang M, Sin WC, Brennand KJ, Schadt E, Naus CC, Buxbaum J, Zhang B.

Acta Neuropathol Commun. 2018 Dec 21;6(1):144. doi: 10.1186/s40478-018-0642-x.

27.

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.

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, Khalifa N, Dahl N, Huang AY, Neale BM, Coppola G, Mathews CA, Scharf JM; Tourette International Collaborative Genetics Study (TIC Genetics); Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE); Tourette Association of America International Consortium for Genetics (TAAICG), Fernandez TV, Buxbaum JD, De Rubeis S, Grice DE, Xing J, Heiman GA, Tischfield JA, Paschou P, Willsey AJ, State MW.

Cell Rep. 2018 Dec 18;25(12):3544. doi: 10.1016/j.celrep.2018.12.024. No abstract available.

28.

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.

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, Klei L, Liang L, Markenscoff-Papadimitriou E, Pochareddy S, Ahituv N, Buxbaum JD, Coon H, Daly MJ, Kim YS, Marth GT, Neale BM, Quinlan AR, Rubenstein JL, Sestan N, State MW, Willsey AJ, Talkowski ME, Devlin B, Roeder K, Sanders SJ.

Science. 2018 Dec 14;362(6420). pii: eaat6576. doi: 10.1126/science.aat6576.

29.

Temporal proteomic profiling of postnatal human cortical development.

Breen MS, Ozcan S, Ramsey JM, Wang Z, Ma'ayan A, Rustogi N, Gottschalk MG, Webster MJ, Weickert CS, Buxbaum JD, Bahn S.

Transl Psychiatry. 2018 Dec 5;8(1):267. doi: 10.1038/s41398-018-0306-4.

30.

Oligonucleotide Drugs for Transthyretin Amyloidosis.

Buxbaum JN.

N Engl J Med. 2018 Nov 22;379(21):2086. doi: 10.1056/NEJMc1810994. No abstract available.

PMID:
30462941
31.

Endoscopic Ultrasound Assessment of Pancreatic Duct Diameter Predicts Neuroendocrine Tumors and Other Pancreas Masses.

Gupta N, Kankotia R, Sahakian A, Jayaram P, Shindel A, Dong E, Korc P, Eloubeidi M, Buxbaum J.

Pancreas. 2019 Jan;48(1):66-69. doi: 10.1097/MPA.0000000000001200.

PMID:
30451795
32.

Gaining Medicaid Coverage During ACA Implementation: Effects on Access to Care and Preventive Services.

Mahmoudi E, Cohen A, Buxbaum J, Richardson CR, Tarraf W.

J Health Care Poor Underserved. 2018;29(4):1472-1487. doi: 10.1353/hpu.2018.0107.

PMID:
30449758
33.

High-risk symptoms do not predict gastric cancer precursors.

Da B, Jani N, Gupta N, Jayaram P, Kankotia R, Yao Yu C, Dinis-Ribeiro M, Buxbaum J.

Helicobacter. 2019 Feb;24(1):e12548. doi: 10.1111/hel.12548. Epub 2018 Nov 9.

PMID:
30412322
34.

Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome.

Srivastava S, Scherrer B, Prohl AK, Filip-Dhima R, Kapur K, Kolevzon A, Buxbaum JD, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Warfield SK, Sahin M; Developmental Synaptopathies Consortium.

Pediatr Neurol. 2019 Jan;90:37-43. doi: 10.1016/j.pediatrneurol.2018.09.008. Epub 2018 Sep 21.

PMID:
30396833
35.

Association of Autism Spectrum Disorder With Prenatal Exposure to Medication Affecting Neurotransmitter Systems.

Janecka M, Kodesh A, Levine SZ, Lusskin SI, Viktorin A, Rahman R, Buxbaum JD, Schlessinger A, Sandin S, Reichenberg A.

JAMA Psychiatry. 2018 Dec 1;75(12):1217-1224. doi: 10.1001/jamapsychiatry.2018.2728.

PMID:
30383108
36.

Update on the Prevention of Post-ERCP Pancreatitis.

Zhang H, Cho J, Buxbaum J.

Curr Treat Options Gastroenterol. 2018 Dec;16(4):428-440. doi: 10.1007/s11938-018-0194-y. Review.

PMID:
30334143
37.

Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the Shank3 Gene.

Drapeau E, Riad M, Kajiwara Y, Buxbaum JD.

eNeuro. 2018 Oct 5;5(3). pii: ENEURO.0046-18.2018. doi: 10.1523/ENEURO.0046-18.2018. eCollection 2018 May-Jun.

38.

Single LAMS versus multigate plastic stent drainage of WON; fair comparison or apples versus oranges?

Buxbaum JL.

Gut. 2018 Oct 9. pii: gutjnl-2018-317387. doi: 10.1136/gutjnl-2018-317387. [Epub ahead of print] No abstract available.

PMID:
30301769
39.

Genetic risk for schizophrenia and autism, social impairment and developmental pathways to psychosis.

Velthorst E, Froudist-Walsh S, Stahl E, Ruderfer D, Ivanov I, Buxbaum J; iPSYCH-Broad ASD Group, the IMAGEN consortium, Banaschewski T, Bokde ALW, Dipl-Psych UB, Büchel C, Quinlan EB, Desrivières S, Flor H, Frouin V, Garavan H, Gowland P, Heinz A, Ittermann B, Martinot MP, Artiges E, Nees F, Orfanos DP, Paus T, Poustka L, Hohmann S, Fröhner JH, Smolka MN, Walter H, Whelan R, Schumann G, Reichenberg A.

Transl Psychiatry. 2018 Sep 26;8(1):204. doi: 10.1038/s41398-018-0229-0.

40.

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.

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, Khalifa N, Dahl N, Huang AY, Neale BM, Coppola G, Mathews CA, Scharf JM; Tourette International Collaborative Genetics Study (TIC Genetics); Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE); Tourette Association of America International Consortium for Genetics (TAAICG), Fernandez TV, Buxbaum JD, De Rubeis S, Grice DE, Xing J, Heiman GA, Tischfield JA, Paschou P, Willsey AJ, State MW.

Cell Rep. 2018 Sep 25;24(13):3441-3454.e12. doi: 10.1016/j.celrep.2018.08.082. Erratum in: Cell Rep. 2018 Dec 18;25(12):3544.

41.

The Mount Sinai cohort of large-scale genomic, transcriptomic and proteomic data in Alzheimer's disease.

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, Mahajan M, Mangravite LM, Dammer EB, Duong DM, Lah JJ, Seyfried NT, Levey AI, Buxbaum JD, Ehrlich M, Gandy S, Katsel P, Haroutunian V, Schadt E, Zhang B.

Sci Data. 2018 Sep 11;5:180185. doi: 10.1038/sdata.2018.185.

42.

Balloon overtube-assisted cholangioscopy and laser lithotripsy of large bile duct stones.

Cho J, Buxbaum J, Sahakian AB.

VideoGIE. 2018 May 30;3(7):217-219. doi: 10.1016/j.vgie.2018.04.009. eCollection 2018 Jul. No abstract available.

43.

Validity of PASS in Tertiary Referral and Community Medical Centers.

Chong B, Buxbaum J.

Am J Gastroenterol. 2018 Sep;113(9):1394-1395. doi: 10.1038/s41395-018-0205-6. Epub 2018 Jul 27. No abstract available.

PMID:
30050133
44.

GLUCAGON PRESCRIPTIONS FOR DIABETES PATIENTS AFTER EMERGENCY DEPARTMENT VISITS FOR HYPOGLYCEMIA.

Fendrick AM, He X, Liu D, Buxbaum JD, Mitchell BD.

Endocr Pract. 2018 Oct 2;24(10):861-866. doi: 10.4158/EP-2018-0223. Epub 2018 Jul 23.

PMID:
30035620
45.

Oligonucleotide Drugs for Transthyretin Amyloidosis.

Buxbaum JN.

N Engl J Med. 2018 Jul 5;379(1):82-85. doi: 10.1056/NEJMe1805499. No abstract available.

PMID:
29972750
46.

Identification of rare de novo epigenetic variations in congenital disorders.

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, Kleefstra T, Grice DE, Edelmann L, Soares G, Maciel P, Brunner HG, Buxbaum JD, Gelb BD, Sharp AJ.

Nat Commun. 2018 May 25;9(1):2064. doi: 10.1038/s41467-018-04540-x.

47.

Gene expression in cord blood links genetic risk for neurodevelopmental disorders with maternal psychological distress and adverse childhood outcomes.

Breen MS, Wingo AP, Koen N, Donald KA, Nicol M, Zar HJ, Ressler KJ, Buxbaum JD, Stein DJ.

Brain Behav Immun. 2018 Oct;73:320-330. doi: 10.1016/j.bbi.2018.05.016. Epub 2018 May 20.

48.

FUN-LDA: A Latent Dirichlet Allocation Model for Predicting Tissue-Specific Functional Effects of Noncoding Variation: Methods and Applications.

Backenroth D, He Z, Kiryluk K, Boeva V, Pethukova L, Khurana E, Christiano A, Buxbaum JD, Ionita-Laza I.

Am J Hum Genet. 2018 May 3;102(5):920-942. doi: 10.1016/j.ajhg.2018.03.026.

49.

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

De Rubeis S, Siper PM, Durkin A, Weissman J, Muratet F, Halpern D, Trelles MDP, Frank Y, Lozano R, Wang AT, Holder JL Jr, Betancur C, Buxbaum JD, Kolevzon A.

Mol Autism. 2018 Apr 27;9:31. doi: 10.1186/s13229-018-0205-9. eCollection 2018.

50.

Did Hans Asperger actively assist the Nazi euthanasia program?

Baron-Cohen S, Klin A, Silberman S, Buxbaum JD.

Mol Autism. 2018 Apr 19;9:28. doi: 10.1186/s13229-018-0209-5. eCollection 2018. No abstract available.

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