Joseph D Buxbaum

Joseph D Buxbaum

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Joseph D Buxbaum

Joseph D Buxbaum

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

Authors:
Brian W Kunkle Benjamin Grenier-Boley Rebecca Sims Joshua C Bis Vincent Damotte Adam C Naj Anne Boland Maria Vronskaya Sven J van der Lee Alexandre Amlie-Wolf Céline Bellenguez Aura Frizatti Vincent Chouraki Eden R Martin Kristel Sleegers Nandini Badarinarayan Johanna Jakobsdottir Kara L Hamilton-Nelson Sonia Moreno-Grau Robert Olaso Rachel Raybould Yuning Chen Amanda B Kuzma Mikko Hiltunen Taniesha Morgan Shahzad Ahmad Badri N Vardarajan Jacques Epelbaum Per Hoffmann Merce Boada Gary W Beecham Jean-Guillaume Garnier Denise Harold Annette L Fitzpatrick Otto Valladares Marie-Laure Moutet Amy Gerrish Albert V Smith Liming Qu Delphine Bacq Nicola Denning Xueqiu Jian Yi Zhao Maria Del Zompo Nick C Fox Seung-Hoan Choi Ignacio Mateo Joseph T Hughes Hieab H Adams John Malamon Florentino Sanchez-Garcia Yogen Patel Jennifer A Brody Beth A Dombroski Maria Candida Deniz Naranjo Makrina Daniilidou Gudny Eiriksdottir Shubhabrata Mukherjee David Wallon James Uphill Thor Aspelund Laura B Cantwell Fabienne Garzia Daniela Galimberti Edith Hofer Mariusz Butkiewicz Bertrand Fin Elio Scarpini Chloe Sarnowski Will S Bush Stéphane Meslage Johannes Kornhuber Charles C White Yuenjoo Song Robert C Barber Sebastiaan Engelborghs Sabrina Sordon Dina Voijnovic Perrie M Adams Rik Vandenberghe Manuel Mayhaus L Adrienne Cupples Marilyn S Albert Peter P De Deyn Wei Gu Jayanadra J Himali Duane Beekly Alessio Squassina Annette M Hartmann Adelina Orellana Deborah Blacker Eloy Rodriguez-Rodriguez Simon Lovestone Melissa E Garcia Rachelle S Doody Carmen Munoz-Fernadez Rebecca Sussams Honghuang Lin Thomas J Fairchild Yolanda A Benito Clive Holmes Hata Karamujić-Čomić Matthew P Frosch Hakan Thonberg Wolfgang Maier Gennady Roshchupkin Bernardino Ghetti Vilmantas Giedraitis Amit Kawalia Shuo Li Ryan M Huebinger Lena Kilander Susanne Moebus Isabel Hernández M Ilyas Kamboh RoseMarie Brundin James Turton Qiong Yang Mindy J Katz Letizia Concari Jenny Lord Alexa S Beiser C Dirk Keene Seppo Helisalmi Iwona Kloszewska Walter A Kukull Anne Maria Koivisto Aoibhinn Lynch Lluís Tarraga Eric B Larson Annakaisa Haapasalo Brian Lawlor Thomas H Mosley Richard B Lipton Vincenzo Solfrizzi Michael Gill W T Longstreth Thomas J Montine Vincenza Frisardi Monica Diez-Fairen Fernando Rivadeneira Ronald C Petersen Vincent Deramecourt Ignacio Alvarez Francesca Salani Antonio Ciaramella Eric Boerwinkle Eric M Reiman Nathalie Fievet Jerome I Rotter Joan S Reisch Olivier Hanon Chiara Cupidi A G Andre Uitterlinden Donald R Royall Carole Dufouil Raffaele Giovanni Maletta Itziar de Rojas Mary Sano Alexis Brice Roberta Cecchetti Peter St George-Hyslop Karen Ritchie Magda Tsolaki Debby W Tsuang Bruno Dubois David Craig Chuang-Kuo Wu Hilkka Soininen Despoina Avramidou Roger L Albin Laura Fratiglioni Antonia Germanou Liana G Apostolova Lina Keller Maria Koutroumani Steven E Arnold Francesco Panza Olymbia Gkatzima Sanjay Asthana Didier Hannequin Patrice Whitehead Craig S Atwood Paolo Caffarra Harald Hampel Inés Quintela Ángel Carracedo Lars Lannfelt David C Rubinsztein Lisa L Barnes Florence Pasquier Lutz Frölich Sandra Barral Bernadette McGuinness Thomas G Beach Janet A Johnston James T Becker Peter Passmore Eileen H Bigio Jonathan M Schott Thomas D Bird Jason D Warren Bradley F Boeve Michelle K Lupton James D Bowen Petra Proitsi Adam Boxer John F Powell James R Burke John S K Kauwe Jeffrey M Burns Michelangelo Mancuso Joseph D Buxbaum Ubaldo Bonuccelli Nigel J Cairns Andrew McQuillin Chuanhai Cao Gill Livingston Chris S Carlson Nicholas J Bass Cynthia M Carlsson John Hardy Regina M Carney Jose Bras Minerva M Carrasquillo Rita Guerreiro Mariet Allen Helena C Chui Elizabeth Fisher Carlo Masullo Elizabeth A Crocco Charles DeCarli Gina Bisceglio Malcolm Dick Li Ma Ranjan Duara Neill R Graff-Radford Denis A Evans Angela Hodges Kelley M Faber Martin Scherer Kenneth B Fallon Matthias Riemenschneider David W Fardo Reinhard Heun Martin R Farlow Heike Kölsch Steven Ferris Markus Leber Tatiana M Foroud Isabella Heuser Douglas R Galasko Ina Giegling Marla Gearing Michael Hüll Daniel H Geschwind John R Gilbert John Morris Robert C Green Kevin Mayo John H Growdon Thomas Feulner Ronald L Hamilton Lindy E Harrell Dmitriy Drichel Lawrence S Honig Thomas D Cushion Matthew J Huentelman Paul Hollingworth Christine M Hulette Bradley T Hyman Rachel Marshall Gail P Jarvik Alun Meggy Erin Abner Georgina E Menzies Lee-Way Jin Ganna Leonenko Luis M Real Gyungah R Jun Clinton T Baldwin Detelina Grozeva Anna Karydas Giancarlo Russo Jeffrey A Kaye Ronald Kim Frank Jessen Neil W Kowall Bruno Vellas Joel H Kramer Emma Vardy Frank M LaFerla Karl-Heinz Jöckel James J Lah Martin Dichgans James B Leverenz David Mann Allan I Levey Stuart Pickering-Brown Andrew P Lieberman Norman Klopp Kathryn L Lunetta H-Erich Wichmann Constantine G Lyketsos Kevin Morgan Daniel C Marson Kristelle Brown Frank Martiniuk Christopher Medway Deborah C Mash Markus M Nöthen Eliezer Masliah Nigel M Hooper Wayne C McCormick Antonio Daniele Susan M McCurry Anthony Bayer Andrew N McDavid John Gallacher Ann C McKee Hendrik van den Bussche Marsel Mesulam Carol Brayne Bruce L Miller Steffi Riedel-Heller Carol A Miller Joshua W Miller Ammar Al-Chalabi John C Morris Christopher E Shaw Amanda J Myers Jens Wiltfang Sid O'Bryant John M Olichney Victoria Alvarez Joseph E Parisi Andrew B Singleton Henry L Paulson John Collinge William R Perry Simon Mead Elaine Peskind David H Cribbs Martin Rossor Aimee Pierce Natalie S Ryan Wayne W Poon Benedetta Nacmias Huntington Potter Sandro Sorbi Joseph F Quinn Eleonora Sacchinelli Ashok Raj Gianfranco Spalletta Murray Raskind Carlo Caltagirone Paola Bossù Maria Donata Orfei Barry Reisberg Robert Clarke Christiane Reitz A David Smith John M Ringman Donald Warden Erik D Roberson Gordon Wilcock Ekaterina Rogaeva Amalia Cecilia Bruni Howard J Rosen Maura Gallo Roger N Rosenberg Yoav Ben-Shlomo Mark A Sager Patrizia Mecocci Andrew J Saykin Pau Pastor Michael L Cuccaro Jeffery M Vance Julie A Schneider Lori S Schneider Susan Slifer William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Mitchell Tang Rudolph E Tanzi John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Yasaman Saba Alberto Pilotto Maria J Bullido Oliver Peters Paul K Crane David Bennett Paola Bosco Eliecer Coto Virginia Boccardi Phil L De Jager Alberto Lleo Nick Warner Oscar L Lopez Martin Ingelsson Panagiotis Deloukas Carlos Cruchaga Caroline Graff Rhian Gwilliam Myriam Fornage Alison M Goate Pascual Sanchez-Juan Patrick G Kehoe Najaf Amin Nilifur Ertekin-Taner Claudine Berr Stéphanie Debette Seth Love Lenore J Launer Steven G Younkin Jean-Francois Dartigues Chris Corcoran M Arfan Ikram Dennis W Dickson Gael Nicolas Dominique Campion JoAnn Tschanz Helena Schmidt Hakon Hakonarson Jordi Clarimon Ron Munger Reinhold Schmidt Lindsay A Farrer Christine Van Broeckhoven Michael C O'Donovan Anita L DeStefano Lesley Jones Jonathan L Haines Jean-Francois Deleuze Michael J Owen Vilmundur Gudnason Richard Mayeux Valentina Escott-Price Bruce M Psaty Alfredo Ramirez Li-San Wang Agustin Ruiz Cornelia M van Duijn Peter A Holmans Sudha Seshadri Julie Williams Phillippe Amouyel Gerard D Schellenberg Jean-Charles Lambert Margaret A Pericak-Vance

Nat Genet 2019 Aug 15. Epub 2019 Aug 15.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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http://dx.doi.org/10.1038/s41588-019-0495-7DOI Listing
August 2019

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

J Am Acad Child Adolesc Psychiatry 2019 Jun 27;58(6):618-627. Epub 2019 Feb 27.

Icahn School of Medicine at Mount Sinai, New York, NY; Icahn School of Medicine at Mount Sinai, Division of Tics, OCD, and Related Disorders; Friedman Brain Institute and Mindich Child Health and Development Institute. Electronic address:

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http://dx.doi.org/10.1016/j.jaac.2018.09.447DOI Listing
June 2019

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

Mol Autism 2019 4;10. Epub 2019 Feb 4.

13Department of Psychiatry and Behavioral Sciences, MIND Institute, University of California Davis School of Medicine, Sacramento, CA 95817 USA.

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http://dx.doi.org/10.1186/s13229-018-0249-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385386PMC
April 2019

Identification of common genetic risk variants for autism spectrum disorder.

Nat Genet 2019 03 25;51(3):431-444. Epub 2019 Feb 25.

The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.

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http://dx.doi.org/10.1038/s41588-019-0344-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454898PMC
March 2019

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

Authors:
Brian W Kunkle Benjamin Grenier-Boley Rebecca Sims Joshua C Bis Vincent Damotte Adam C Naj Anne Boland Maria Vronskaya Sven J van der Lee Alexandre Amlie-Wolf Céline Bellenguez Aura Frizatti Vincent Chouraki Eden R Martin Kristel Sleegers Nandini Badarinarayan Johanna Jakobsdottir Kara L Hamilton-Nelson Sonia Moreno-Grau Robert Olaso Rachel Raybould Yuning Chen Amanda B Kuzma Mikko Hiltunen Taniesha Morgan Shahzad Ahmad Badri N Vardarajan Jacques Epelbaum Per Hoffmann Merce Boada Gary W Beecham Jean-Guillaume Garnier Denise Harold Annette L Fitzpatrick Otto Valladares Marie-Laure Moutet Amy Gerrish Albert V Smith Liming Qu Delphine Bacq Nicola Denning Xueqiu Jian Yi Zhao Maria Del Zompo Nick C Fox Seung-Hoan Choi Ignacio Mateo Joseph T Hughes Hieab H Adams John Malamon Florentino Sanchez-Garcia Yogen Patel Jennifer A Brody Beth A Dombroski Maria Candida Deniz Naranjo Makrina Daniilidou Gudny Eiriksdottir Shubhabrata Mukherjee David Wallon James Uphill Thor Aspelund Laura B Cantwell Fabienne Garzia Daniela Galimberti Edith Hofer Mariusz Butkiewicz Bertrand Fin Elio Scarpini Chloe Sarnowski Will S Bush Stéphane Meslage Johannes Kornhuber Charles C White Yuenjoo Song Robert C Barber Sebastiaan Engelborghs Sabrina Sordon Dina Voijnovic Perrie M Adams Rik Vandenberghe Manuel Mayhaus L Adrienne Cupples Marilyn S Albert Peter P De Deyn Wei Gu Jayanadra J Himali Duane Beekly Alessio Squassina Annette M Hartmann Adelina Orellana Deborah Blacker Eloy Rodriguez-Rodriguez Simon Lovestone Melissa E Garcia Rachelle S Doody Carmen Munoz-Fernadez Rebecca Sussams Honghuang Lin Thomas J Fairchild Yolanda A Benito Clive Holmes Hata Karamujić-Čomić Matthew P Frosch Hakan Thonberg Wolfgang Maier Gennady Roshchupkin Bernardino Ghetti Vilmantas Giedraitis Amit Kawalia Shuo Li Ryan M Huebinger Lena Kilander Susanne Moebus Isabel Hernández M Ilyas Kamboh RoseMarie Brundin James Turton Qiong Yang Mindy J Katz Letizia Concari Jenny Lord Alexa S Beiser C Dirk Keene Seppo Helisalmi Iwona Kloszewska Walter A Kukull Anne Maria Koivisto Aoibhinn Lynch Lluís Tarraga Eric B Larson Annakaisa Haapasalo Brian Lawlor Thomas H Mosley Richard B Lipton Vincenzo Solfrizzi Michael Gill W T Longstreth Thomas J Montine Vincenza Frisardi Monica Diez-Fairen Fernando Rivadeneira Ronald C Petersen Vincent Deramecourt Ignacio Alvarez Francesca Salani Antonio Ciaramella Eric Boerwinkle Eric M Reiman Nathalie Fievet Jerome I Rotter Joan S Reisch Olivier Hanon Chiara Cupidi A G Andre Uitterlinden Donald R Royall Carole Dufouil Raffaele Giovanni Maletta Itziar de Rojas Mary Sano Alexis Brice Roberta Cecchetti Peter St George-Hyslop Karen Ritchie Magda Tsolaki Debby W Tsuang Bruno Dubois David Craig Chuang-Kuo Wu Hilkka Soininen Despoina Avramidou Roger L Albin Laura Fratiglioni Antonia Germanou Liana G Apostolova Lina Keller Maria Koutroumani Steven E Arnold Francesco Panza Olymbia Gkatzima Sanjay Asthana Didier Hannequin Patrice Whitehead Craig S Atwood Paolo Caffarra Harald Hampel Inés Quintela Ángel Carracedo Lars Lannfelt David C Rubinsztein Lisa L Barnes Florence Pasquier Lutz Frölich Sandra Barral Bernadette McGuinness Thomas G Beach Janet A Johnston James T Becker Peter Passmore Eileen H Bigio Jonathan M Schott Thomas D Bird Jason D Warren Bradley F Boeve Michelle K Lupton James D Bowen Petra Proitsi Adam Boxer John F Powell James R Burke John S K Kauwe Jeffrey M Burns Michelangelo Mancuso Joseph D Buxbaum Ubaldo Bonuccelli Nigel J Cairns Andrew McQuillin Chuanhai Cao Gill Livingston Chris S Carlson Nicholas J Bass Cynthia M Carlsson John Hardy Regina M Carney Jose Bras Minerva M Carrasquillo Rita Guerreiro Mariet Allen Helena C Chui Elizabeth Fisher Carlo Masullo Elizabeth A Crocco Charles DeCarli Gina Bisceglio Malcolm Dick Li Ma Ranjan Duara Neill R Graff-Radford Denis A Evans Angela Hodges Kelley M Faber Martin Scherer Kenneth B Fallon Matthias Riemenschneider David W Fardo Reinhard Heun Martin R Farlow Heike Kölsch Steven Ferris Markus Leber Tatiana M Foroud Isabella Heuser Douglas R Galasko Ina Giegling Marla Gearing Michael Hüll Daniel H Geschwind John R Gilbert John Morris Robert C Green Kevin Mayo John H Growdon Thomas Feulner Ronald L Hamilton Lindy E Harrell Dmitriy Drichel Lawrence S Honig Thomas D Cushion Matthew J Huentelman Paul Hollingworth Christine M Hulette Bradley T Hyman Rachel Marshall Gail P Jarvik Alun Meggy Erin Abner Georgina E Menzies Lee-Way Jin Ganna Leonenko Luis M Real Gyungah R Jun Clinton T Baldwin Detelina Grozeva Anna Karydas Giancarlo Russo Jeffrey A Kaye Ronald Kim Frank Jessen Neil W Kowall Bruno Vellas Joel H Kramer Emma Vardy Frank M LaFerla Karl-Heinz Jöckel James J Lah Martin Dichgans James B Leverenz David Mann Allan I Levey Stuart Pickering-Brown Andrew P Lieberman Norman Klopp Kathryn L Lunetta H-Erich Wichmann Constantine G Lyketsos Kevin Morgan Daniel C Marson Kristelle Brown Frank Martiniuk Christopher Medway Deborah C Mash Markus M Nöthen Eliezer Masliah Nigel M Hooper Wayne C McCormick Antonio Daniele Susan M McCurry Anthony Bayer Andrew N McDavid John Gallacher Ann C McKee Hendrik van den Bussche Marsel Mesulam Carol Brayne Bruce L Miller Steffi Riedel-Heller Carol A Miller Joshua W Miller Ammar Al-Chalabi John C Morris Christopher E Shaw Amanda J Myers Jens Wiltfang Sid O'Bryant John M Olichney Victoria Alvarez Joseph E Parisi Andrew B Singleton Henry L Paulson John Collinge William R Perry Simon Mead Elaine Peskind David H Cribbs Martin Rossor Aimee Pierce Natalie S Ryan Wayne W Poon Benedetta Nacmias Huntington Potter Sandro Sorbi Joseph F Quinn Eleonora Sacchinelli Ashok Raj Gianfranco Spalletta Murray Raskind Carlo Caltagirone Paola Bossù Maria Donata Orfei Barry Reisberg Robert Clarke Christiane Reitz A David Smith John M Ringman Donald Warden Erik D Roberson Gordon Wilcock Ekaterina Rogaeva Amalia Cecilia Bruni Howard J Rosen Maura Gallo Roger N Rosenberg Yoav Ben-Shlomo Mark A Sager Patrizia Mecocci Andrew J Saykin Pau Pastor Michael L Cuccaro Jeffery M Vance Julie A Schneider Lori S Schneider Susan Slifer William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Mitchell Tang Rudolph E Tanzi John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Yasaman Saba Alberto Pilotto Maria J Bullido Oliver Peters Paul K Crane David Bennett Paola Bosco Eliecer Coto Virginia Boccardi Phil L De Jager Alberto Lleo Nick Warner Oscar L Lopez Martin Ingelsson Panagiotis Deloukas Carlos Cruchaga Caroline Graff Rhian Gwilliam Myriam Fornage Alison M Goate Pascual Sanchez-Juan Patrick G Kehoe Najaf Amin Nilifur Ertekin-Taner Claudine Berr Stéphanie Debette Seth Love Lenore J Launer Steven G Younkin Jean-Francois Dartigues Chris Corcoran M Arfan Ikram Dennis W Dickson Gael Nicolas Dominique Campion JoAnn Tschanz Helena Schmidt Hakon Hakonarson Jordi Clarimon Ron Munger Reinhold Schmidt Lindsay A Farrer Christine Van Broeckhoven Michael C O'Donovan Anita L DeStefano Lesley Jones Jonathan L Haines Jean-Francois Deleuze Michael J Owen Vilmundur Gudnason Richard Mayeux Valentina Escott-Price Bruce M Psaty Alfredo Ramirez Li-San Wang Agustin Ruiz Cornelia M van Duijn Peter A Holmans Sudha Seshadri Julie Williams Phillippe Amouyel Gerard D Schellenberg Jean-Charles Lambert Margaret A Pericak-Vance

Nat Genet 2019 03 28;51(3):414-430. Epub 2019 Feb 28.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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http://dx.doi.org/10.1038/s41588-019-0358-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6463297PMC
March 2019

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

eNeuro 2018 May-Jun;5(3). Epub 2018 Oct 5.

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029.

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http://dx.doi.org/10.1523/ENEURO.0046-18.2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175061PMC
January 2019

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

Pediatr Neurol 2019 Jan 21;90:37-43. Epub 2018 Sep 21.

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08878994183067
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309632PMC
January 2019

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

Brain Behav Immun 2018 10 20;73:320-330. Epub 2018 May 20.

Department of Psychiatry and Mental Health, University of Cape Town, South Africa; South African Medical Research Council (SAMRC) Unit on Risk & Resilience in Mental Disorders, University of Cape Town, Cape Town, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.bbi.2018.05.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6191930PMC
October 2018

Did Hans Asperger actively assist the Nazi euthanasia program?

Mol Autism 2018 19;9:28. Epub 2018 Apr 19.

4Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, 10029 NY USA.

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http://dx.doi.org/10.1186/s13229-018-0209-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5907469PMC
July 2018

Grandma knows best: Family structure and age of diagnosis of autism spectrum disorder.

Autism 2018 04 8;22(3):368-376. Epub 2017 Feb 8.

3 Icahn School of Medicine at Mount Sinai and Seaver Autism Center for Research and Treatment, USA.

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http://dx.doi.org/10.1177/1362361316679632DOI Listing
April 2018

Heritable Variation, With Little or No Maternal Effect, Accounts for Recurrence Risk to Autism Spectrum Disorder in Sweden.

Biol Psychiatry 2018 04 21;83(7):589-597. Epub 2017 Sep 21.

Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York.

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http://dx.doi.org/10.1016/j.biopsych.2017.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880679PMC
April 2018

Calsenilin, a Presenilin Interactor, Regulates RhoA Signaling and Neurite Outgrowth.

Int J Mol Sci 2018 Apr 13;19(4). Epub 2018 Apr 13.

Ilsong Institute of Life Science, Hallym University, Anyang, Gyeonggi-do 14066, Korea.

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http://dx.doi.org/10.3390/ijms19041196DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979497PMC
April 2018

PTSD Blood Transcriptome Mega-Analysis: Shared Inflammatory Pathways across Biological Sex and Modes of Trauma.

Neuropsychopharmacology 2018 02 19;43(3):469-481. Epub 2017 Sep 19.

Departments of Psychiatry and Behavioral Sciences & Neuroscience and Physiology, Psychiatric Genetic Epidemiology & Neurobiology Laboratory (PsychGENe Lab), SUNY Upstate Medical University, Syracuse, NY, USA.

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http://dx.doi.org/10.1038/npp.2017.220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5770765PMC
February 2018

Prospective investigation of FOXP1 syndrome.

Mol Autism 2017 24;8:57. Epub 2017 Oct 24.

Department of Psychiatry, Department of Genetics and Genomic Sciences, Department of Neuroscience, Friedman Brain Institute, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY USA.

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http://dx.doi.org/10.1186/s13229-017-0172-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655854PMC
February 2018

Disrupted circuits in mouse models of autism spectrum disorder and intellectual disability.

Curr Opin Neurobiol 2018 02 7;48:106-112. Epub 2017 Dec 7.

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, New York, 10029 NY, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, New York, 10029 NY, USA. Electronic address:

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http://dx.doi.org/10.1016/j.conb.2017.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5825272PMC
February 2018

Shank3-deficient rats exhibit degraded cortical responses to sound.

Autism Res 2018 01 20;11(1):59-68. Epub 2017 Oct 20.

School of Behavioral and Brain Sciences, The University of Texas at Dallas, 800 West Campbell Road BSB11, Richardson, TX, 75080.

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http://dx.doi.org/10.1002/aur.1883DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773383PMC
January 2018

Autism spectrum disorder: neuropathology and animal models.

Acta Neuropathol 2017 Oct 5;134(4):537-566. Epub 2017 Jun 5.

Fishberg Department of Neuroscience, Icahn School of Medicine at Mount Sinai, Box 1639, One Gustave L. Levy Place, New York, NY, 10029, USA.

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http://dx.doi.org/10.1007/s00401-017-1736-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5693718PMC
October 2017

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Authors:
Rebecca Sims Sven J van der Lee Adam C Naj Céline Bellenguez Nandini Badarinarayan Johanna Jakobsdottir Brian W Kunkle Anne Boland Rachel Raybould Joshua C Bis Eden R Martin Benjamin Grenier-Boley Stefanie Heilmann-Heimbach Vincent Chouraki Amanda B Kuzma Kristel Sleegers Maria Vronskaya Agustin Ruiz Robert R Graham Robert Olaso Per Hoffmann Megan L Grove Badri N Vardarajan Mikko Hiltunen Markus M Nöthen Charles C White Kara L Hamilton-Nelson Jacques Epelbaum Wolfgang Maier Seung-Hoan Choi Gary W Beecham Cécile Dulary Stefan Herms Albert V Smith Cory C Funk Céline Derbois Andreas J Forstner Shahzad Ahmad Hongdong Li Delphine Bacq Denise Harold Claudia L Satizabal Otto Valladares Alessio Squassina Rhodri Thomas Jennifer A Brody Liming Qu Pascual Sánchez-Juan Taniesha Morgan Frank J Wolters Yi Zhao Florentino Sanchez Garcia Nicola Denning Myriam Fornage John Malamon Maria Candida Deniz Naranjo Elisa Majounie Thomas H Mosley Beth Dombroski David Wallon Michelle K Lupton Josée Dupuis Patrice Whitehead Laura Fratiglioni Christopher Medway Xueqiu Jian Shubhabrata Mukherjee Lina Keller Kristelle Brown Honghuang Lin Laura B Cantwell Francesco Panza Bernadette McGuinness Sonia Moreno-Grau Jeremy D Burgess Vincenzo Solfrizzi Petra Proitsi Hieab H Adams Mariet Allen Davide Seripa Pau Pastor L Adrienne Cupples Nathan D Price Didier Hannequin Ana Frank-García Daniel Levy Paramita Chakrabarty Paolo Caffarra Ina Giegling Alexa S Beiser Vilmantas Giedraitis Harald Hampel Melissa E Garcia Xue Wang Lars Lannfelt Patrizia Mecocci Gudny Eiriksdottir Paul K Crane Florence Pasquier Virginia Boccardi Isabel Henández Robert C Barber Martin Scherer Lluis Tarraga Perrie M Adams Markus Leber Yuning Chen Marilyn S Albert Steffi Riedel-Heller Valur Emilsson Duane Beekly Anne Braae Reinhold Schmidt Deborah Blacker Carlo Masullo Helena Schmidt Rachelle S Doody Gianfranco Spalletta W T Longstreth Thomas J Fairchild Paola Bossù Oscar L Lopez Matthew P Frosch Eleonora Sacchinelli Bernardino Ghetti Qiong Yang Ryan M Huebinger Frank Jessen Shuo Li M Ilyas Kamboh John Morris Oscar Sotolongo-Grau Mindy J Katz Chris Corcoran Melanie Dunstan Amy Braddel Charlene Thomas Alun Meggy Rachel Marshall Amy Gerrish Jade Chapman Miquel Aguilar Sarah Taylor Matt Hill Mònica Díez Fairén Angela Hodges Bruno Vellas Hilkka Soininen Iwona Kloszewska Makrina Daniilidou James Uphill Yogen Patel Joseph T Hughes Jenny Lord James Turton Annette M Hartmann Roberta Cecchetti Chiara Fenoglio Maria Serpente Marina Arcaro Carlo Caltagirone Maria Donata Orfei Antonio Ciaramella Sabrina Pichler Manuel Mayhaus Wei Gu Alberto Lleó Juan Fortea Rafael Blesa Imelda S Barber Keeley Brookes Chiara Cupidi Raffaele Giovanni Maletta David Carrell Sandro Sorbi Susanne Moebus Maria Urbano Alberto Pilotto Johannes Kornhuber Paolo Bosco Stephen Todd David Craig Janet Johnston Michael Gill Brian Lawlor Aoibhinn Lynch Nick C Fox John Hardy Roger L Albin Liana G Apostolova Steven E Arnold Sanjay Asthana Craig S Atwood Clinton T Baldwin Lisa L Barnes Sandra Barral Thomas G Beach James T Becker Eileen H Bigio Thomas D Bird Bradley F Boeve James D Bowen Adam Boxer James R Burke Jeffrey M Burns Joseph D Buxbaum Nigel J Cairns Chuanhai Cao Chris S Carlson Cynthia M Carlsson Regina M Carney Minerva M Carrasquillo Steven L Carroll Carolina Ceballos Diaz Helena C Chui David G Clark David H Cribbs Elizabeth A Crocco Charles DeCarli Malcolm Dick Ranjan Duara Denis A Evans Kelley M Faber Kenneth B Fallon David W Fardo Martin R Farlow Steven Ferris Tatiana M Foroud Douglas R Galasko Marla Gearing Daniel H Geschwind John R Gilbert Neill R Graff-Radford Robert C Green John H Growdon Ronald L Hamilton Lindy E Harrell Lawrence S Honig Matthew J Huentelman Christine M Hulette Bradley T Hyman Gail P Jarvik Erin Abner Lee-Way Jin Gyungah Jun Anna Karydas Jeffrey A Kaye Ronald Kim Neil W Kowall Joel H Kramer Frank M LaFerla James J Lah James B Leverenz Allan I Levey Ge Li Andrew P Lieberman Kathryn L Lunetta Constantine G Lyketsos Daniel C Marson Frank Martiniuk Deborah C Mash Eliezer Masliah Wayne C McCormick Susan M McCurry Andrew N McDavid Ann C McKee Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller John C Morris Jill R Murrell Amanda J Myers Sid O'Bryant John M Olichney Vernon S Pankratz Joseph E Parisi Henry L Paulson William Perry Elaine Peskind Aimee Pierce Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Murray Raskind Barry Reisberg Christiane Reitz John M Ringman Erik D Roberson Ekaterina Rogaeva Howard J Rosen Roger N Rosenberg Mark A Sager Andrew J Saykin Julie A Schneider Lon S Schneider William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Rudolph E Tanzi Tricia A Thornton-Wells John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Fabienne Garzia Feroze Golamaully Gislain Septier Sebastien Engelborghs Rik Vandenberghe Peter P De Deyn Carmen Muñoz Fernadez Yoland Aladro Benito Hakan Thonberg Charlotte Forsell Lena Lilius Anne Kinhult-Stählbom Lena Kilander RoseMarie Brundin Letizia Concari Seppo Helisalmi Anne Maria Koivisto Annakaisa Haapasalo Vincent Dermecourt Nathalie Fievet Olivier Hanon Carole Dufouil Alexis Brice Karen Ritchie Bruno Dubois Jayanadra J Himali C Dirk Keene JoAnn Tschanz Annette L Fitzpatrick Walter A Kukull Maria Norton Thor Aspelund Eric B Larson Ron Munger Jerome I Rotter Richard B Lipton María J Bullido Albert Hofman Thomas J Montine Eliecer Coto Eric Boerwinkle Ronald C Petersen Victoria Alvarez Fernando Rivadeneira Eric M Reiman Maura Gallo Christopher J O'Donnell Joan S Reisch Amalia Cecilia Bruni Donald R Royall Martin Dichgans Mary Sano Daniela Galimberti Peter St George-Hyslop Elio Scarpini Debby W Tsuang Michelangelo Mancuso Ubaldo Bonuccelli Ashley R Winslow Antonio Daniele Chuang-Kuo Wu Oliver Peters Benedetta Nacmias Matthias Riemenschneider Reinhard Heun Carol Brayne David C Rubinsztein Jose Bras Rita Guerreiro Ammar Al-Chalabi Christopher E Shaw John Collinge David Mann Magda Tsolaki Jordi Clarimón Rebecca Sussams Simon Lovestone Michael C O'Donovan Michael J Owen Timothy W Behrens Simon Mead Alison M Goate Andre G Uitterlinden Clive Holmes Carlos Cruchaga Martin Ingelsson David A Bennett John Powell Todd E Golde Caroline Graff Philip L De Jager Kevin Morgan Nilufer Ertekin-Taner Onofre Combarros Bruce M Psaty Peter Passmore Steven G Younkin Claudine Berr Vilmundur Gudnason Dan Rujescu Dennis W Dickson Jean-François Dartigues Anita L DeStefano Sara Ortega-Cubero Hakon Hakonarson Dominique Campion Merce Boada John Keoni Kauwe Lindsay A Farrer Christine Van Broeckhoven M Arfan Ikram Lesley Jones Jonathan L Haines Christophe Tzourio Lenore J Launer Valentina Escott-Price Richard Mayeux Jean-François Deleuze Najaf Amin Peter A Holmans Margaret A Pericak-Vance Philippe Amouyel Cornelia M van Duijn Alfredo Ramirez Li-San Wang Jean-Charles Lambert Sudha Seshadri Julie Williams Gerard D Schellenberg

Nat Genet 2017 09 17;49(9):1373-1384. Epub 2017 Jul 17.

Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669039PMC
September 2017

Transethnic genome-wide scan identifies novel Alzheimer's disease loci.

Alzheimers Dement 2017 Jul 7;13(7):727-738. Epub 2017 Feb 7.

Department of Medicine (Biomedical Genetics), Boston University Schools of Medicine, Boston, MA, USA; Department of Neurology, Boston University Schools of Medicine, Boston, MA, USA; Department of Biostatistics, Boston University Schools of Public Health, Boston, MA, USA; Department of Ophthalmology, Boston University Schools of Medicine, Boston, MA, USA; Department of Epidemiology, Boston University Schools of Public Health, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jalz.2016.12.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496797PMC
July 2017

Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder.

J Autism Dev Disord 2017 06;47(6):1605-1617

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, Box 1668, One Gustave L. Levy Place, New York, NY, 10029, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196360PMC
June 2017

A clinician-administered observation and corresponding caregiver interview capturing DSM-5 sensory reactivity symptoms in children with ASD.

Autism Res 2017 Jun 11;10(6):1133-1140. Epub 2017 Mar 11.

Centre for Research in Autism and Education (CRAE), UCL Institute of Education, University College London, London, UK.

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June 2017

Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans.

Alzheimers Dement 2017 02 20;13(2):119-129. Epub 2016 Oct 20.

Department of Neurology, Boston University School of Medicine, Boston, MA, USA; Alzheimer's Disease and CTE Center, Boston University School of Medicine, Boston, MA, USA; Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA; Department of Ophthalmology, Boston University School of Medicine, Boston, MA, USA; Department of Epidemiology, Boston University School of Public Health, Boston, MA, USA.

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http://dx.doi.org/10.1016/j.jalz.2016.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5318231PMC
February 2017

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.

Authors:
Christian R Marshall Daniel P Howrigan Daniele Merico Bhooma Thiruvahindrapuram Wenting Wu Douglas S Greer Danny Antaki Aniket Shetty Peter A Holmans Dalila Pinto Madhusudan Gujral William M Brandler Dheeraj Malhotra Zhouzhi Wang Karin V Fuentes Fajarado Michelle S Maile Stephan Ripke Ingrid Agartz Margot Albus Madeline Alexander Farooq Amin Joshua Atkins Silviu A Bacanu Richard A Belliveau Sarah E Bergen Marcelo Bertalan Elizabeth Bevilacqua Tim B Bigdeli Donald W Black Richard Bruggeman Nancy G Buccola Randy L Buckner Brendan Bulik-Sullivan William Byerley Wiepke Cahn Guiqing Cai Murray J Cairns Dominique Campion Rita M Cantor Vaughan J Carr Noa Carrera Stanley V Catts Kimberley D Chambert Wei Cheng C Robert Cloninger David Cohen Paul Cormican Nick Craddock Benedicto Crespo-Facorro James J Crowley David Curtis Michael Davidson Kenneth L Davis Franziska Degenhardt Jurgen Del Favero Lynn E DeLisi Dimitris Dikeos Timothy Dinan Srdjan Djurovic Gary Donohoe Elodie Drapeau Jubao Duan Frank Dudbridge Peter Eichhammer Johan Eriksson Valentina Escott-Price Laurent Essioux Ayman H Fanous Kai-How Farh Martilias S Farrell Josef Frank Lude Franke Robert Freedman Nelson B Freimer Joseph I Friedman Andreas J Forstner Menachem Fromer Giulio Genovese Lyudmila Georgieva Elliot S Gershon Ina Giegling Paola Giusti-Rodríguez Stephanie Godard Jacqueline I Goldstein Jacob Gratten Lieuwe de Haan Marian L Hamshere Mark Hansen Thomas Hansen Vahram Haroutunian Annette M Hartmann Frans A Henskens Stefan Herms Joel N Hirschhorn Per Hoffmann Andrea Hofman Hailiang Huang Masashi Ikeda Inge Joa Anna K Kähler René S Kahn Luba Kalaydjieva Juha Karjalainen David Kavanagh Matthew C Keller Brian J Kelly James L Kennedy Yunjung Kim James A Knowles Bettina Konte Claudine Laurent Phil Lee S Hong Lee Sophie E Legge Bernard Lerer Deborah L Levy Kung-Yee Liang Jeffrey Lieberman Jouko Lönnqvist Carmel M Loughland Patrik K E Magnusson Brion S Maher Wolfgang Maier Jacques Mallet Manuel Mattheisen Morten Mattingsdal Robert W McCarley Colm McDonald Andrew M McIntosh Sandra Meier Carin J Meijer Ingrid Melle Raquelle I Mesholam-Gately Andres Metspalu Patricia T Michie Lili Milani Vihra Milanova Younes Mokrab Derek W Morris Bertram Müller-Myhsok Kieran C Murphy Robin M Murray Inez Myin-Germeys Igor Nenadic Deborah A Nertney Gerald Nestadt Kristin K Nicodemus Laura Nisenbaum Annelie Nordin Eadbhard O'Callaghan Colm O'Dushlaine Sang-Yun Oh Ann Olincy Line Olsen F Anthony O'Neill Jim Van Os Christos Pantelis George N Papadimitriou Elena Parkhomenko Michele T Pato Tiina Paunio Diana O Perkins Tune H Pers Olli Pietiläinen Jonathan Pimm Andrew J Pocklington John Powell Alkes Price Ann E Pulver Shaun M Purcell Digby Quested Henrik B Rasmussen Abraham Reichenberg Mark A Reimers Alexander L Richards Joshua L Roffman Panos Roussos Douglas M Ruderfer Veikko Salomaa Alan R Sanders Adam Savitz Ulrich Schall Thomas G Schulze Sibylle G Schwab Edward M Scolnick Rodney J Scott Larry J Seidman Jianxin Shi Jeremy M Silverman Jordan W Smoller Erik Söderman Chris C A Spencer Eli A Stahl Eric Strengman Jana Strohmaier T Scott Stroup Jaana Suvisaari Dragan M Svrakic Jin P Szatkiewicz Srinivas Thirumalai Paul A Tooney Juha Veijola Peter M Visscher John Waddington Dermot Walsh Bradley T Webb Mark Weiser Dieter B Wildenauer Nigel M Williams Stephanie Williams Stephanie H Witt Aaron R Wolen Brandon K Wormley Naomi R Wray Jing Qin Wu Clement C Zai Rolf Adolfsson Ole A Andreassen Douglas H R Blackwood Elvira Bramon Joseph D Buxbaum Sven Cichon David A Collier Aiden Corvin Mark J Daly Ariel Darvasi Enrico Domenici Tõnu Esko Pablo V Gejman Michael Gill Hugh Gurling Christina M Hultman Nakao Iwata Assen V Jablensky Erik G Jönsson Kenneth S Kendler George Kirov Jo Knight Douglas F Levinson Qingqin S Li Steven A McCarroll Andrew McQuillin Jennifer L Moran Bryan J Mowry Markus M Nöthen Roel A Ophoff Michael J Owen Aarno Palotie Carlos N Pato Tracey L Petryshen Danielle Posthuma Marcella Rietschel Brien P Riley Dan Rujescu Pamela Sklar David St Clair James T R Walters Thomas Werge Patrick F Sullivan Michael C O'Donovan Stephen W Scherer Benjamin M Neale Jonathan Sebat

Nat Genet 2017 01 21;49(1):27-35. Epub 2016 Nov 21.

Beyster Center for Psychiatric Genomics, University of California, San Diego, La Jolla, California, USA.

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http://dx.doi.org/10.1038/ng.3725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5737772PMC
January 2017

New translational perspectives for blood-based biomarkers of PTSD: From glucocorticoid to immune mediators of stress susceptibility.

Exp Neurol 2016 Oct 29;284(Pt B):133-140. Epub 2016 Jul 29.

Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Mental Health Patient Care Center, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5056828PMC
http://dx.doi.org/10.1016/j.expneurol.2016.07.024DOI Listing
October 2016

Prenatal Maternal Smoking and Increased Risk for Tourette Syndrome and Chronic Tic Disorders.

J Am Acad Child Adolesc Psychiatry 2016 09 21;55(9):784-91. Epub 2016 Jul 21.

Division of Tics, Obsessive-Compulsive Disorder (OCD) and Related Disorders, Icahn School of Medicine at Mount Sinai, New York; Friedman Brain Institute and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai. Electronic address:

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http://dx.doi.org/10.1016/j.jaac.2016.06.010DOI Listing
September 2016

Altered tactile processing in children with autism spectrum disorder.

Autism Res 2016 06 16;9(6):616-20. Epub 2015 Nov 16.

Department of Psychiatry, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 10029.

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http://dx.doi.org/10.1002/aur.1563DOI Listing
June 2016

Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women.

JAMA Psychiatry 2016 05;73(5):497-505

Schizophrenia Research Institute, Sydney, Australia23School of Biomedical Sciences and Pharmacy, University of Newcastle, Callaghan, Australia.

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http://dx.doi.org/10.1001/jamapsychiatry.2016.0129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785705PMC
May 2016

A Simplified Diagnostic Observational Assessment of Autism Spectrum Disorder in Early Childhood.

Autism Res 2016 Apr 25;9(4):443-9. Epub 2015 Aug 25.

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place, Box 1230, New York, NY.

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http://dx.doi.org/10.1002/aur.1539DOI Listing
April 2016

Erratum to: Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome.

J Neurodev Disord 2016 15;8. Epub 2016 Mar 15.

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1230, New York, NY 10029 USA ; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY USA ; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY USA ; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY USA ; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY USA.

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http://dx.doi.org/10.1186/s11689-016-9143-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4791933PMC
March 2016

A spectral approach integrating functional genomic annotations for coding and noncoding variants.

Nat Genet 2016 Feb 4;48(2):214-20. Epub 2016 Jan 4.

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://dx.doi.org/10.1038/ng.3477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731313PMC
February 2016

Cyfip1 Regulates Presynaptic Activity during Development.

J Neurosci 2016 Feb;36(5):1564-76

Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine and Graduate School of Biomedical Sciences at Mount Sinai, New York, New York 10029

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http://dx.doi.org/10.1523/JNEUROSCI.0511-15.2016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737770PMC
February 2016

Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome.

J Neurodev Disord 2016 23;8. Epub 2016 Feb 23.

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1230, New York, NY 10029 USA ; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY USA ; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY USA ; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY USA ; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY USA.

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http://dx.doi.org/10.1186/s11689-016-9138-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4763436PMC
February 2016

Measuring Sensory Reactivity in Autism Spectrum Disorder: Application and Simplification of a Clinician-Administered Sensory Observation Scale.

J Autism Dev Disord 2016 Jan;46(1):287-293

Seaver Autism Center for Research and Treatment, Departments of Psychiatry, Neuroscience and Genetics and Genomic Sciences, The Friedman Brain Institute, The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://link.springer.com/content/pdf/10.1007%2Fs10803-015-25
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http://link.springer.com/10.1007/s10803-015-2578-3
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http://dx.doi.org/10.1007/s10803-015-2578-3DOI Listing
January 2016

Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.

J Child Neurol 2015 Dec 8;30(14):1861-70. Epub 2015 Sep 8.

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA

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http://journals.sagepub.com/doi/10.1177/0883073815600872
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http://dx.doi.org/10.1177/0883073815600872DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321557PMC
December 2015

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.

Authors:
Valentina Escott-Price Céline Bellenguez Li-San Wang Seung-Hoan Choi Denise Harold Lesley Jones Peter Holmans Amy Gerrish Alexey Vedernikov Alexander Richards Anita L DeStefano Jean-Charles Lambert Carla A Ibrahim-Verbaas Adam C Naj Rebecca Sims Gyungah Jun Joshua C Bis Gary W Beecham Benjamin Grenier-Boley Giancarlo Russo Tricia A Thornton-Wells Nicola Denning Albert V Smith Vincent Chouraki Charlene Thomas M Arfan Ikram Diana Zelenika Badri N Vardarajan Yoichiro Kamatani Chiao-Feng Lin Helena Schmidt Brian Kunkle Melanie L Dunstan Maria Vronskaya Andrew D Johnson Agustin Ruiz Marie-Thérèse Bihoreau Christiane Reitz Florence Pasquier Paul Hollingworth Olivier Hanon Annette L Fitzpatrick Joseph D Buxbaum Dominique Campion Paul K Crane Clinton Baldwin Tim Becker Vilmundur Gudnason Carlos Cruchaga David Craig Najaf Amin Claudine Berr Oscar L Lopez Philip L De Jager Vincent Deramecourt Janet A Johnston Denis Evans Simon Lovestone Luc Letenneur Isabel Hernández David C Rubinsztein Gudny Eiriksdottir Kristel Sleegers Alison M Goate Nathalie Fiévet Matthew J Huentelman Michael Gill Kristelle Brown M Ilyas Kamboh Lina Keller Pascale Barberger-Gateau Bernadette McGuinness Eric B Larson Amanda J Myers Carole Dufouil Stephen Todd David Wallon Seth Love Ekaterina Rogaeva John Gallacher Peter St George-Hyslop Jordi Clarimon Alberto Lleo Anthony Bayer Debby W Tsuang Lei Yu Magda Tsolaki Paola Bossù Gianfranco Spalletta Petra Proitsi John Collinge Sandro Sorbi Florentino Sanchez Garcia Nick C Fox John Hardy Maria Candida Deniz Naranjo Paolo Bosco Robert Clarke Carol Brayne Daniela Galimberti Elio Scarpini Ubaldo Bonuccelli Michelangelo Mancuso Gabriele Siciliano Susanne Moebus Patrizia Mecocci Maria Del Zompo Wolfgang Maier Harald Hampel Alberto Pilotto Ana Frank-García Francesco Panza Vincenzo Solfrizzi Paolo Caffarra Benedetta Nacmias William Perry Manuel Mayhaus Lars Lannfelt Hakon Hakonarson Sabrina Pichler Minerva M Carrasquillo Martin Ingelsson Duane Beekly Victoria Alvarez Fanggeng Zou Otto Valladares Steven G Younkin Eliecer Coto Kara L Hamilton-Nelson Wei Gu Cristina Razquin Pau Pastor Ignacio Mateo Michael J Owen Kelley M Faber Palmi V Jonsson Onofre Combarros Michael C O'Donovan Laura B Cantwell Hilkka Soininen Deborah Blacker Simon Mead Thomas H Mosley David A Bennett Tamara B Harris Laura Fratiglioni Clive Holmes Renee F A G de Bruijn Peter Passmore Thomas J Montine Karolien Bettens Jerome I Rotter Alexis Brice Kevin Morgan Tatiana M Foroud Walter A Kukull Didier Hannequin John F Powell Michael A Nalls Karen Ritchie Kathryn L Lunetta John S K Kauwe Eric Boerwinkle Matthias Riemenschneider Mercè Boada Mikko Hiltunen Eden R Martin Reinhold Schmidt Dan Rujescu Jean-François Dartigues Richard Mayeux Christophe Tzourio Albert Hofman Markus M Nöthen Caroline Graff Bruce M Psaty Jonathan L Haines Mark Lathrop Margaret A Pericak-Vance Lenore J Launer Christine Van Broeckhoven Lindsay A Farrer Cornelia M van Duijn Alfredo Ramirez Sudha Seshadri Gerard D Schellenberg Philippe Amouyel Julie Williams

PLoS One 2014 12;9(6):e94661. Epub 2014 Jun 12.

Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4055488PMC
October 2015

Genetics and genomics of autism spectrum disorder: embracing complexity.

Hum Mol Genet 2015 Oct 17;24(R1):R24-31. Epub 2015 Jul 17.

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, New York, NY 10029, USA Department of Psychiatry, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, New York, NY 10029, USA Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, New York, NY 10029, USA Department of Neuroscience, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, New York, NY 10029, USA Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, New York, NY 10029, USA and The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, New York, NY 10029, USA

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http://dx.doi.org/10.1093/hmg/ddv273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4675826PMC
October 2015

Canonical Inflammasomes Drive IFN-γ to Prime Caspase-11 in Defense against a Cytosol-Invasive Bacterium.

Cell Host Microbe 2015 Sep 27;18(3):320-32. Epub 2015 Aug 27.

Department of Microbiology and Immunology, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA; Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA; Center for Gastrointestinal Biology and Disease, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S19313128150030
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http://dx.doi.org/10.1016/j.chom.2015.07.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4567510PMC
September 2015

Ultrastructural analyses in the hippocampus CA1 field in Shank3-deficient mice.

Mol Autism 2015 30;6:41. Epub 2015 Jun 30.

Fishberg Department of Neuroscience, Icahn School of Medicine at Mount Sinai, One Gustave L Levy Place, Box 1639, New York, NY 10029 USA ; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY USA ; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY USA ; Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, NY USA.

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http://dx.doi.org/10.1186/s13229-015-0036-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486760PMC
July 2015

Recent advances in the genetics of autism spectrum disorder.

Curr Neurol Neurosci Rep 2015 Jun;15(6):36

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, 10029, NY, USA.

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http://dx.doi.org/10.1007/s11910-015-0553-1DOI Listing
June 2015

Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators.

Cell Rep 2015 Jun 28;11(9):1400-1413. Epub 2015 May 28.

Department of Physiology & Biophysics, State University of New York at Buffalo, Buffalo, NY, 14214.

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http://dx.doi.org/10.1016/j.celrep.2015.04.064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464902PMC
June 2015

Erratum: A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome.

Mol Autism 2015 2;6:31. Epub 2015 Jun 2.

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, One Gustave L Levy Place, Box 1230, New York, NY 10029 USA ; Icahn School of Medicine at Mount Sinai, New York, NY USA ; Friedman Brain Institute, New York, NY USA ; Mindich Child Health Institute, New York, NY USA ; Departments of Psychiatry, New York, NY USA ; Departments of Neuroscience, New York, NY USA ; Departments of Genetics and Genomic Sciences, New York, NY USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4450831PMC
June 2015

DSM-5 and psychiatric genetics - round hole, meet square peg.

Authors:
Joseph D Buxbaum

Biol Psychiatry 2015 May 28;77(9):766-8. Epub 2015 Feb 28.

Seaver Autism Center for Research and Treatment, Departments of Psychiatry, Neuroscience, and Genetics and Genomic Sciences, Friedman Brain Institute and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.. Electronic address:

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May 2015

Understanding autism in the light of sex/gender.

Mol Autism 2015 13;6:24. Epub 2015 May 13.

Seaver Autism Center for Research and Treatment, Departments of Psychiatry, Neuroscience, and Genetics and Genomic Sciences, Friedman Brain Institute and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, New York, NY 10029 USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429357PMC
May 2015

Familial clustering of tic disorders and obsessive-compulsive disorder.

JAMA Psychiatry 2015 Apr;72(4):359-66

Division of Tics, OCD, and Related Disorders, Icahn School of Medicine at Mount Sinai, New York, New York2Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York3Friedman Brain Institute, Icahn School of Medicine at Mount Sin.

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April 2015

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.

Neurology 2015 Mar 6;84(10):972-80. Epub 2015 Feb 6.

From the John P. Hussman Institute for Human Genomics (G.W.B., W.K.S., E.R.M., K.N., L.W., D.M.D., M.A.P.-V., J.M.V.) and University of Miami Brain Endowment Bank (D.C.M.), Miller School of Medicine, University of Miami, FL; Departments of Neuroscience (D.W.D., O.A.R.) and Neurology (Z.K.W.), Mayo Clinic Florida, Jacksonville; Department of Pathology & Laboratory Medicine (G.S., J.Q.T., V.M.V.D., H.I.H.), Perelman School of Medicine, Center for Neurodegenerative Disease Research, University of Pennsylvania, Philadelphia; Group Health Research Institute (E.B.L.), Seattle, WA; Departments of Psychiatry, and Genetics and Genomic Sciences (J.D.B.), Mount Sinai School of Medicine, New York, NY; Arizona Alzheimer's Consortium (T.G.B.), Phoenix; Sun Health Research Institute (T.G.B.), Sun City, AZ; Division of Neuropathology, Department of Pathology (J.C.T., O.P.), and Department of Neurology and the Solomon H. Snyder Department of Neuroscience (T.M.D.), Johns Hopkins University School of Medicine, Baltimore, MD; Kubik Laboratory for Neuropathology (M.P.F.), Massachusetts General Hospital and Harvard Medical School, Charlestown, MA; Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center (B.G.), and Department of Medical and Molecular Genetics (T.M.F.), Indiana University School of Medicine, Indianapolis; Departments of Neurology (L.S.H., K.M.) and Psychiatry (K.M.), Gertrude H. Sergievsky Center, and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York; Department of Pathology and Cell Biology (J.P.V.), Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York, NY; The Parkinson's Institute (S.M.G.), Sunnyvale, CA; Departments of Pathology and Laboratory Medicine (Neuropathology) and Neurology (H.V.V.), David Geffen School of Medicine at University of California Los Angeles; Department of Pathology (T.J.M.), University of Washington School of Medicine, Seattle; VA Puget Sound Health Care System (

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000133
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352096PMC
March 2015

Rarity of the Alzheimer disease-protective APP A673T variant in the United States.

Authors:
Li-San Wang Adam C Naj Robert R Graham Paul K Crane Brian W Kunkle Carlos Cruchaga Josue D Gonzalez Murcia Lisa Cannon-Albright Clinton T Baldwin Henrik Zetterberg Kaj Blennow Walter A Kukull Kelley M Faber Nicole Schupf Maria C Norton JoAnn T Tschanz Ronald G Munger Christopher D Corcoran Ekaterina Rogaeva Chiao-Feng Lin Beth A Dombroski Laura B Cantwell Amanda Partch Otto Valladares Hakon Hakonarson Peter St George-Hyslop Robert C Green Alison M Goate Tatiana M Foroud Regina M Carney Eric B Larson Timothy W Behrens John S K Kauwe Jonathan L Haines Lindsay A Farrer Margaret A Pericak-Vance Richard Mayeux Gerard D Schellenberg Marilyn S Albert Roger L Albin Liana G Apostolova Steven E Arnold Robert Barber Michael Barmada Lisa L Barnes Thomas G Beach James T Becker Gary W Beecham Duane Beekly David A Bennett Eileen H Bigio Thomas D Bird Deborah Blacker Bradley F Boeve James D Bowen Adam Boxer James R Burke Joseph D Buxbaum Nigel J Cairns Chuanhai Cao Chris S Carlson Steven L Carroll Helena C Chui David G Clark David H Cribbs Elizabeth A Crocco Charles DeCarli Steven T DeKosky F Yesim Demirci Malcolm Dick Dennis W Dickson Ranjan Duara Nilufer Ertekin-Taner Kenneth B Fallon Martin R Farlow Steven Ferris Matthew P Frosch Douglas R Galasko Mary Ganguli Marla Gearing Daniel H Geschwind Bernardino Ghetti John R Gilbert Jonathan D Glass Neill R Graff-Radford John H Growdon Ronald L Hamilton Kara L Hamilton-Nelson Lindy E Harrell Elizabeth Head Lawrence S Honig Christine M Hulette Bradley T Hyman Gail P Jarvik Gregory A Jicha Lee-Way Jin Gyungah Jun Gyungah Jun M Ilyas Kamboh Anna Karydas Jeffrey A Kaye Ronald Kim Edward H Koo Neil W Kowall Joel H Kramer Frank M LaFerla James J Lah James B Leverenz Allan I Levey Gei Li Andrew P Lieberman Oscar L Lopez Kathryn L Lunetta Constantine G Lyketsos Wendy J Mack Daniel C Marson Eden R Martin Frank Martiniuk Deborah C Mash Eliezer Masliah Wayne C McCormick Susan M McCurry Andrew N McDavid Ann C McKee W Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller Thomas J Montine John C Morris Jill R Murrell John M Olichney Joseph E Parisi William Perry Elaine Peskind Ronald C Petersen Aimee Pierce Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Murray Raskind Eric M Reiman Barry Reisberg Christiane Reitz John M Ringman Erik D Roberson Howard J Rosen Roger N Rosenberg Mary Sano Andrew J Saykin Julie A Schneider Lon S Schneider William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Rudolph E Tanzi Tricia A Thornton-Wells John Q Trojanowski Juan C Troncoso Debby W Tsuang Vivianna M Van Deerlin Linda J Van Eldik Badri N Vardarajan Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Jennifer Williamson Sarah Wishnek Randall L Woltjer Clinton B Wright Steven G Younkin Chang-En Yu Lei Yu

JAMA Neurol 2015 Feb;72(2):209-16

Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4324097PMC
February 2015

A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome.

Mol Autism 2014 12;5(1):54. Epub 2014 Dec 12.

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, One Gustave L Levy Place, Box 1230, New York, NY 10029 USA ; Friedman Brain Institute, New York, NY USA ; Mindich Child Health Institute, New York, NY USA ; Departments of Psychiatry, New York, NY USA ; Departments of Neuroscience, New York, NY USA ; Departments of Genetics and Genomic Sciences, New York, NY USA ; Icahn School of Medicine at Mount Sinai, New York, NY USA.

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http://dx.doi.org/10.1186/2040-2392-5-54DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326443PMC
February 2015

Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism.

PLoS Genet 2014 Dec 11;10(12):e1004729. Epub 2014 Dec 11.

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America; Departments of Psychiatry, Mount Sinai School of Medicine, New York, New York, United States of America; Departments of Genetics and Genomic Sciences, and Neuroscience, and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America; Mindich Child Health and Development Institute, Mount Sinai School of Medicine, New York, New York, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1004729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4263785PMC
December 2014

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.

Authors:
Adam C Naj Gyungah Jun Christiane Reitz Brian W Kunkle William Perry Yo Son Park Gary W Beecham Ruchita A Rajbhandary Kara L Hamilton-Nelson Li-San Wang John S K Kauwe Matthew J Huentelman Amanda J Myers Thomas D Bird Bradley F Boeve Clinton T Baldwin Gail P Jarvik Paul K Crane Ekaterina Rogaeva M Michael Barmada F Yesim Demirci Carlos Cruchaga Patricia L Kramer Nilufer Ertekin-Taner John Hardy Neill R Graff-Radford Robert C Green Eric B Larson Peter H St George-Hyslop Joseph D Buxbaum Denis A Evans Julie A Schneider Kathryn L Lunetta M Ilyas Kamboh Andrew J Saykin Eric M Reiman Philip L De Jager David A Bennett John C Morris Thomas J Montine Alison M Goate Deborah Blacker Debby W Tsuang Hakon Hakonarson Walter A Kukull Tatiana M Foroud Eden R Martin Jonathan L Haines Richard P Mayeux Lindsay A Farrer Gerard D Schellenberg Margaret A Pericak-Vance Marilyn S Albert Roger L Albin Liana G Apostolova Steven E Arnold Robert Barber Lisa L Barnes Thomas G Beach James T Becker Duane Beekly Eileen H Bigio James D Bowen Adam Boxer James R Burke Nigel J Cairns Laura B Cantwell Chuanhai Cao Chris S Carlson Regina M Carney Minerva M Carrasquillo Steven L Carroll Helena C Chui David G Clark Jason Corneveaux David H Cribbs Elizabeth A Crocco Charles DeCarli Steven T DeKosky Malcolm Dick Dennis W Dickson Ranjan Duara Kelley M Faber Kenneth B Fallon Martin R Farlow Steven Ferris Matthew P Frosch Douglas R Galasko Mary Ganguli Marla Gearing Daniel H Geschwind Bernardino Ghetti John R Gilbert Jonathan D Glass John H Growdon Ronald L Hamilton Lindy E Harrell Elizabeth Head Lawrence S Honig Christine M Hulette Bradley T Hyman Gregory A Jicha Lee-Way Jin Anna Karydas Jeffrey A Kaye Ronald Kim Edward H Koo Neil W Kowall Joel H Kramer Frank M LaFerla James J Lah James B Leverenz Allan I Levey Ge Li Andrew P Lieberman Chiao-Feng Lin Oscar L Lopez Constantine G Lyketsos Wendy J Mack Frank Martiniuk Deborah C Mash Eliezer Masliah Wayne C McCormick Susan M McCurry Andrew N McDavid Ann C McKee Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller Jill R Murrell John M Olichney Vernon S Pankratz Joseph E Parisi Henry L Paulson Elaine Peskind Ronald C Petersen Aimee Pierce Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Murray Raskind Barry Reisberg John M Ringman Erik D Roberson Howard J Rosen Roger N Rosenberg Mary Sano Lon S Schneider William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Rudolph E Tanzi Tricia A Thornton-Wells John Q Trojanowski Juan C Troncoso Otto Valladares Vivianna M Van Deerlin Linda J Van Eldik Badri N Vardarajan Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Jennifer Williamson Sarah Wishnek Randall L Woltjer Clinton B Wright Steven G Younkin Chang-En Yu Lei Yu

JAMA Neurol 2014 Nov;71(11):1394-404

Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois.

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http://dx.doi.org/10.1001/jamaneurol.2014.1491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4314944PMC
November 2014

Synaptic, transcriptional and chromatin genes disrupted in autism.

PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation.

Ann Neurol 2014 Sep 29;76(3):379-92. Epub 2014 Jul 29.

Departments of Medicine, Boston University School of Medicine, Boston, MA; Ophthalmology, Boston University School of Medicine, Boston, MA; Department of Biostatistics, Boston University School of Public Health, Boston, MA.

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http://dx.doi.org/10.1002/ana.24219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830273PMC
September 2014

A framework for the interpretation of de novo mutation in human disease.

Nat Genet 2014 Sep 3;46(9):944-50. Epub 2014 Aug 3.

1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222185PMC
September 2014

Neuropathology of the anterior midcingulate cortex in young children with autism.

J Neuropathol Exp Neurol 2014 Sep;73(9):891-902

From the Fishberg Department of Neuroscience (NU, BW, PRH), Friedman Brain Institute (NU, BW, JDB, PRH), Seaver Autism Center for Research and Treatment (NU, JDB, PRH), Graduate School of Biomedical Sciences (NU, JDB, PRH), and Department of Psychiatry (JDB), Icahn School of Medicine at Mount Sinai, New York, New York; and Morphologic Brain Research Unit, Department of Psychiatry, University of Würzburg, Würzburg (HH); and Department of Neuroanatomy, Ludwig-Maximilians University of Munich, Munich (CS), Germany.

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http://dx.doi.org/10.1097/NEN.0000000000000108DOI Listing
September 2014

Expression profiling associates blood and brain glucocorticoid receptor signaling with trauma-related individual differences in both sexes.

Proc Natl Acad Sci U S A 2014 Sep 11;111(37):13529-34. Epub 2014 Aug 11.

Departments of Psychiatry, Mental Health Patient Care Center, James J. Peters Veterans Affairs Medical Center, Bronx, NY 10468; and Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029;

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http://dx.doi.org/10.1073/pnas.1401660111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169965PMC
September 2014

Maturation of cortical circuits requires Semaphorin 7A.

Proc Natl Acad Sci U S A 2014 Sep 8;111(38):13978-83. Epub 2014 Sep 8.

Departments of Neuroscience and Friedman Brain Institute, Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4183324PMC
September 2014

Introduction of the human AVPR1A gene substantially alters brain receptor expression patterns and enhances aspects of social behavior in transgenic mice.

Dis Model Mech 2014 Aug 12;7(8):1013-22. Epub 2014 Jun 12.

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA Friedman Brain Institute and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA

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http://dmm.biologists.org/cgi/doi/10.1242/dmm.017053
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http://dx.doi.org/10.1242/dmm.017053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107330PMC
August 2014

Most genetic risk for autism resides with common variation.

Nat Genet 2014 Aug 20;46(8):881-5. Epub 2014 Jul 20.

1] Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [2] Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [3] Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [4] Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [5] Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [6] The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://dx.doi.org/10.1038/ng.3039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4137411PMC
August 2014

A critical role for human caspase-4 in endotoxin sensitivity.

J Immunol 2014 Jul 30;193(1):335-43. Epub 2014 May 30.

Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029; and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029

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http://dx.doi.org/10.4049/jimmunol.1303424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066208PMC
July 2014

Absence of strong strain effects in behavioral analyses of Shank3-deficient mice.

Dis Model Mech 2014 Jun 20;7(6):667-81. Epub 2014 Mar 20.

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Department of Pharmacology and Systems Therapeutics and Systems Biology Center New York, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

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http://dx.doi.org/10.1242/dmm.013821DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4036474PMC
June 2014

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

Authors:
Dalila Pinto Elsa Delaby Daniele Merico Mafalda Barbosa Alison Merikangas Lambertus Klei Bhooma Thiruvahindrapuram Xiao Xu Robert Ziman Zhuozhi Wang Jacob A S Vorstman Ann Thompson Regina Regan Marion Pilorge Giovanna Pellecchia Alistair T Pagnamenta Bárbara Oliveira Christian R Marshall Tiago R Magalhaes Jennifer K Lowe Jennifer L Howe Anthony J Griswold John Gilbert Eftichia Duketis Beth A Dombroski Maretha V De Jonge Michael Cuccaro Emily L Crawford Catarina T Correia Judith Conroy Inês C Conceição Andreas G Chiocchetti Jillian P Casey Guiqing Cai Christelle Cabrol Nadia Bolshakova Elena Bacchelli Richard Anney Steven Gallinger Michelle Cotterchio Graham Casey Lonnie Zwaigenbaum Kerstin Wittemeyer Kirsty Wing Simon Wallace Herman van Engeland Ana Tryfon Susanne Thomson Latha Soorya Bernadette Rogé Wendy Roberts Fritz Poustka Susana Mouga Nancy Minshew L Alison McInnes Susan G McGrew Catherine Lord Marion Leboyer Ann S Le Couteur Alexander Kolevzon Patricia Jiménez González Suma Jacob Richard Holt Stephen Guter Jonathan Green Andrew Green Christopher Gillberg Bridget A Fernandez Frederico Duque Richard Delorme Geraldine Dawson Pauline Chaste Cátia Café Sean Brennan Thomas Bourgeron Patrick F Bolton Sven Bölte Raphael Bernier Gillian Baird Anthony J Bailey Evdokia Anagnostou Joana Almeida Ellen M Wijsman Veronica J Vieland Astrid M Vicente Gerard D Schellenberg Margaret Pericak-Vance Andrew D Paterson Jeremy R Parr Guiomar Oliveira John I Nurnberger Anthony P Monaco Elena Maestrini Sabine M Klauck Hakon Hakonarson Jonathan L Haines Daniel H Geschwind Christine M Freitag Susan E Folstein Sean Ennis Hilary Coon Agatino Battaglia Peter Szatmari James S Sutcliffe Joachim Hallmayer Michael Gill Edwin H Cook Joseph D Buxbaum Bernie Devlin Louise Gallagher Catalina Betancur Stephen W Scherer

Am J Hum Genet 2014 May 24;94(5):677-94. Epub 2014 Apr 24.

Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A1, Canada. Electronic address:

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https://hal.archives-ouvertes.fr/inserm-00986225/file/mmc1.p
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067558PMC
May 2014