Gholson J Lyon

Gholson J Lyon

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Gholson J Lyon

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VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.

Cold Spring Harb Mol Case Stud 2019 Aug 6. Epub 2019 Aug 6.

NYS Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY,10314, USA.

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http://dx.doi.org/10.1101/mcs.a003715DOI Listing
August 2019

From Molecular Understanding to Organismal Biology of N-Terminal Acetyltransferases.

Authors:
Gholson J Lyon

Structure 2019 Jul;27(7):1053-1055

Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY 10314, USA; Biology PhD Program, The Graduate Center, The City University of New York, NY 10016, USA. Electronic address:

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http://dx.doi.org/10.1016/j.str.2019.06.002DOI Listing
July 2019

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 Jun 5. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
June 2019

Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies.

Am J Psychiatry 2019 Mar;176(3):217-227

The Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Department of Psychiatry, Massachusetts General Hospital, Boston (Yu, Illmann, Osiecki, Smoller, Pauls, Neale, Scharf); the Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Mass. (Yu, Neale, Scharf); the Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles (Sul, Huang, Zelaya, Ophoff, Freimer, Coppola); the Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles (Sul, Huang, Zelaya, Freimer, Coppola); the Department of Molecular Biology and Genetics, Democritus University of Thrace, Xanthi, Greece (Tsetsos); the Department of Biological Sciences, Purdue University, West Lafayette, Ind. (Tsetsos, Paschou); deCODE Genetics/Amgen, Reykjavik, Iceland (Nawaz, H. Stefansson, K. Stefansson); the Bioinformatics Interdepartmental Program, University of California, Los Angeles (Huang, Zelaya); the Department of Psychiatry, University of California, San Francisco (Darrow); the Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco (Hirschtritt, Willsey); the Department of Psychiatry, Massachusetts General Hospital, Boston (Greenberg, Roffman, Buckner); the Clinic of Psychiatry, Social Psychiatry, and Psychotherapy, Hannover Medical School, Hannover, Germany (Muller-Vahl); the Institute of Human Genetics, Hannover Medical School, Hannover, Germany (Stuhrmann); McGill University Health Center, University of Montreal, McGill University Health Centre, Montreal (Dion); the Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal (Rouleau); the Department of Psychiatry and Psychotherapy, Medical University Vienna, Vienna (Aschauer, Stamenkovic); Biopsychosocial Corporation, Vienna (Aschauer, Schlögelhofer); University Health Network, Youthdale Treatment Centres, and University of Toronto, Toronto (Sandor); the Krembil Research Institute, University Health Network, Hospital for Sick Children, and University of Toronto, Toronto (Barr); Johns Hopkins University School of Medicine, Baltimore (Grados, Singer); the Institute of Human Genetics, University Hospital Bonn, University of Bonn Medical School, Bonn, Germany (Nöthen); the Department of Child and Adolescent Psychiatry, Psychosomatics, and Psychotherapy, University Hospital Essen, University of Duisburg-Essen, Essen, Germany (Hebebrand, Hinney); the Yale Child Study Center and the Department of Psychiatry, Yale University School of Medicine, New Haven, Conn. (King, Fernandez); the Institute of Medical Chemistry, Molecular Biology, and Pathobiochemistry, Semmelweis University, Budapest, Hungary (Barta); Vadaskert Child and Adolescent Psychiatric Hospital, Budapest, Hungary (Tarnok, Nagy); the Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany (Depienne); Sorbonne Universités, UPMC Université Paris 06, UMR S 1127, CNRS UMR 7225, ICM, Paris (Depienne, Worbe, Hartmann); French Reference Centre for Gilles de la Tourette Syndrome, Groupe Hospitalier Pitié-Salpêtrière, Paris (Worbe, Hartmann); Assistance Publique-Hôpitaux de Paris, Department of Neurology, Groupe Hospitalier Pitié-Salpêtrière, Paris (Worbe, Hartmann); Zucker School of Medicine at Hofstra/Northwell, Hempstead, New York (Budman); Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy (Rizzo); the Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York (Lyon); the Department of Psychiatry, University of Utah, Salt Lake City (McMahon); Children's Mercy Hospital, Kansas City, Mo. (Batterson); the Department of Psychiatry, University Medical Center Groningen and Rijksuniversity Groningen, and Drenthe Mental Health Center, Groningen, the Netherlands (Cath); the Department of Neurology, Fixel Center for Neurological Diseases, McKnight Brain Institute, University of Florida, Gainesville (Malaty, Okun); Pennsylvania State University College of Medicine, Hershey (Berlin); Marquette University and University of Wisconsin-Milwaukee, Milwaukee (Woods); Tripler Army Medical Center and University of Hawaii John A. Burns School of Medicine, Honolulu (Lee); Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston (Jankovic); the Division of Psychiatry, Department of Neuropsychiatry, University College London (Robertson); the Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati (Gilbert); Children's Hospital of Philadelphia, Philadelphia (Brown); the Department of Psychiatry and Behavioral Sciences, University of Miami Miller School of Medicine, Miami (Coffey); the Department of Child and Adolescent Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands (Dietrich, Hoekstra); University of Iowa Carver College of Medicine, Iowa City (Kuperman); the Department of Pediatrics, University of Washington, Seattle (Zinner); the Department of Pediatrics, Landspitalinn University Hospital, Reykjavik, Iceland (Luðvigsson, Thorarensen); the Faculty of Medicine, University of Iceland, Reykjavík, Iceland (Sæmundsen, Stefansson); the State Diagnostic and Counselling Centre, Kópavogur, Iceland (Sæmundsen); the Department of Genetics and the Department of Medicine, Albert Einstein College of Medicine, Bronx, New York (Atzmon, Barzilai); the Department of Human Biology, Haifa University, Haifa, Israel (Atzmon); the Department of Psychiatry and Psychotherapy, University of Bonn, Bonn, Germany (Wagner); the Department of Psychiatry and Psychotherapy, University of Tübingen, Tübingen, Germany (Moessner); SUNY Downstate Medical Center Brooklyn, New York (C.M. Pato, M.T. Pato, Knowles); the Athinoula A. Martinos Center for Biomedical Research, Department of Radiology, Massachusetts General Hospital, Charlestown (Roffman, Buckner); the Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston (Smoller); the Center for Brain Science and Department of Psychology, Harvard University, Cambridge, Mass. (Buckner); the Institute for Neurodegenerative Diseases, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco (Willsey); the Department of Genetics and the Human Genetics Institute of New Jersey, Rutgers, the State University of New Jersey, Piscataway (Tischfield, Heiman); the Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, VU University Amsterdam, Amsterdam (Posthuma); the Division of Genetic Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tenn. (Cox, Davis); the Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston (Neale); the Department of Psychiatry, Genetics Institute, University of Florida, Gainesville (Mathews); and the Department of Neurology, Brigham and Women's Hospital, and the Department of Neurology, Massachusetts General Hospital, Boston (Scharf).

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http://dx.doi.org/10.1176/appi.ajp.2018.18070857DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6677250PMC
March 2019

NAA10-related syndrome.

Exp Mol Med 2018 07 27;50(7):85. Epub 2018 Jul 27.

Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Woodbury, NY, 11797, USA.

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http://www.nature.com/articles/s12276-018-0098-x
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http://dx.doi.org/10.1038/s12276-018-0098-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063861PMC
July 2018

Analysis of shared heritability in common disorders of the brain.

Authors:
Verneri Anttila Brendan Bulik-Sullivan Hilary K Finucane Raymond K Walters Jose Bras Laramie Duncan Valentina Escott-Price Guido J Falcone Padhraig Gormley Rainer Malik Nikolaos A Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H Lee Patrick Turley Benjamin Grenier-Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean-François Deleuze Emmanuelle Duron Badri N Vardarajan Christiane Reitz Alison M Goate Matthew J Huentelman M Ilyas Kamboh Eric B Larson Ekaterina Rogaeva Peter St George-Hyslop Hakon Hakonarson Walter A Kukull Lindsay A Farrer Lisa L Barnes Thomas G Beach F Yesim Demirci Elizabeth Head Christine M Hulette Gregory A Jicha John S K Kauwe Jeffrey A Kaye James B Leverenz Allan I Levey Andrew P Lieberman Vernon S Pankratz Wayne W Poon Joseph F Quinn Andrew J Saykin Lon S Schneider Amanda G Smith Joshua A Sonnen Robert A Stern Vivianna M Van Deerlin Linda J Van Eldik Denise Harold Giancarlo Russo David C Rubinsztein Anthony Bayer Magda Tsolaki Petra Proitsi Nick C Fox Harald Hampel Michael J Owen Simon Mead Peter Passmore Kevin Morgan Markus M Nöthen Martin Rossor Michelle K Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al-Chalabi Joshua C Bis Agustin Ruiz Mercè Boada Sudha Seshadri Alexa Beiser Kenneth Rice Sven J van der Lee Philip L De Jager Daniel H Geschwind Matthias Riemenschneider Steffi Riedel-Heller Jerome I Rotter Gerhard Ransmayr Bradley T Hyman Carlos Cruchaga Montserrat Alegret Bendik Winsvold Priit Palta Kai-How Farh Ester Cuenca-Leon Nicholas Furlotte Tobias Kurth Lannie Ligthart Gisela M Terwindt Tobias Freilinger Caroline Ran Scott D Gordon Guntram Borck Hieab H H Adams Terho Lehtimäki Juho Wedenoja Julie E Buring Markus Schürks Maria Hrafnsdottir Jouke-Jan Hottenga Brenda Penninx Ville Artto Mari Kaunisto Salli Vepsäläinen Nicholas G Martin Grant W Montgomery Mitja I Kurki Eija Hämäläinen Hailiang Huang Jie Huang Cynthia Sandor Caleb Webber Bertram Muller-Myhsok Stefan Schreiber Veikko Salomaa Elizabeth Loehrer Hartmut Göbel Alfons Macaya Patricia Pozo-Rosich Thomas Hansen Thomas Werge Jaakko Kaprio Andres Metspalu Christian Kubisch Michel D Ferrari Andrea C Belin Arn M J M van den Maagdenberg John-Anker Zwart Dorret Boomsma Nicholas Eriksson Jes Olesen Daniel I Chasman Dale R Nyholt Andreja Avbersek Larry Baum Samuel Berkovic Jonathan Bradfield Russell J Buono Claudia B Catarino Patrick Cossette Peter De Jonghe Chantal Depondt Dennis Dlugos Thomas N Ferraro Jacqueline French Helle Hjalgrim Jennifer Jamnadas-Khoda Reetta Kälviäinen Wolfram S Kunz Holger Lerche Costin Leu Dick Lindhout Warren Lo Daniel Lowenstein Mark McCormack Rikke S Møller Anne Molloy Ping-Wing Ng Karen Oliver Michael Privitera Rodney Radtke Ann-Kathrin Ruppert Thomas Sander Steven Schachter Christoph Schankin Ingrid Scheffer Susanne Schoch Sanjay M Sisodiya Philip Smith Michael Sperling Pasquale Striano Rainer Surges G Neil Thomas Frank Visscher Christopher D Whelan Federico Zara Erin L Heinzen Anthony Marson Felicitas Becker Hans Stroink Fritz Zimprich Thomas Gasser Raphael Gibbs Peter Heutink Maria Martinez Huw R Morris Manu Sharma Mina Ryten Kin Y Mok Sara Pulit Steve Bevan Elizabeth Holliday John Attia Thomas Battey Giorgio Boncoraglio Vincent Thijs Wei-Min Chen Braxton Mitchell Peter Rothwell Pankaj Sharma Cathie Sudlow Astrid Vicente Hugh Markus Christina Kourkoulis Joana Pera Miriam Raffeld Scott Silliman Vesna Boraska Perica Laura M Thornton Laura M Huckins N William Rayner Cathryn M Lewis Monica Gratacos Filip Rybakowski Anna Keski-Rahkonen Anu Raevuori James I Hudson Ted Reichborn-Kjennerud Palmiero Monteleone Andreas Karwautz Katrin Mannik Jessica H Baker Julie K O'Toole Sara E Trace Oliver S P Davis Sietske G Helder Stefan Ehrlich Beate Herpertz-Dahlmann Unna N Danner Annemarie A van Elburg Maurizio Clementi Monica Forzan Elisa Docampo Jolanta Lissowska Joanna Hauser Alfonso Tortorella Mario Maj Fragiskos Gonidakis Konstantinos Tziouvas Hana Papezova Zeynep Yilmaz Gudrun Wagner Sarah Cohen-Woods Stefan Herms Antonio Julià Raquel Rabionet Danielle M Dick Samuli Ripatti Ole A Andreassen Thomas Espeseth Astri J Lundervold Vidar M Steen Dalila Pinto Stephen W Scherer Harald Aschauer Alexandra Schosser Lars Alfredsson Leonid Padyukov Katherine A Halmi James Mitchell Michael Strober Andrew W Bergen Walter Kaye Jin Peng Szatkiewicz Bru Cormand Josep Antoni Ramos-Quiroga Cristina Sánchez-Mora Marta Ribasés Miguel Casas Amaia Hervas Maria Jesús Arranz Jan Haavik Tetyana Zayats Stefan Johansson Nigel Williams Astrid Dempfle Aribert Rothenberger Jonna Kuntsi Robert D Oades Tobias Banaschewski Barbara Franke Jan K Buitelaar Alejandro Arias Vasquez Alysa E Doyle Andreas Reif Klaus-Peter Lesch Christine Freitag Olga Rivero Haukur Palmason Marcel Romanos Kate Langley Marcella Rietschel Stephanie H Witt Soeren Dalsgaard Anders D Børglum Irwin Waldman Beth Wilmot Nikolas Molly Claiton H D Bau Jennifer Crosbie Russell Schachar Sandra K Loo James J McGough Eugenio H Grevet Sarah E Medland Elise Robinson Lauren A Weiss Elena Bacchelli Anthony Bailey Vanessa Bal Agatino Battaglia Catalina Betancur Patrick Bolton Rita Cantor Patrícia Celestino-Soper Geraldine Dawson Silvia De Rubeis Frederico Duque Andrew Green Sabine M Klauck Marion Leboyer Pat Levitt Elena Maestrini Shrikant Mane Daniel Moreno- De-Luca Jeremy Parr Regina Regan Abraham Reichenberg Sven Sandin Jacob Vorstman Thomas Wassink Ellen Wijsman Edwin Cook Susan Santangelo Richard Delorme Bernadette Rogé Tiago Magalhaes Dan Arking Thomas G Schulze Robert C Thompson Jana Strohmaier Keith Matthews Ingrid Melle Derek Morris Douglas Blackwood Andrew McIntosh Sarah E Bergen Martin Schalling Stéphane Jamain Anna Maaser Sascha B Fischer Céline S Reinbold Janice M Fullerton José Guzman-Parra Fermin Mayoral Peter R Schofield Sven Cichon Thomas W Mühleisen Franziska Degenhardt Johannes Schumacher Michael Bauer Philip B Mitchell Elliot S Gershon John Rice James B Potash Peter P Zandi Nick Craddock I Nicol Ferrier Martin Alda Guy A Rouleau Gustavo Turecki Roel Ophoff Carlos Pato Adebayo Anjorin Eli Stahl Markus Leber Piotr M Czerski Cristiana Cruceanu Ian R Jones Danielle Posthuma Till F M Andlauer Andreas J Forstner Fabian Streit Bernhard T Baune Tracy Air Grant Sinnamon Naomi R Wray Donald J MacIntyre David Porteous Georg Homuth Margarita Rivera Jakob Grove Christel M Middeldorp Ian Hickie Michele Pergadia Divya Mehta Johannes H Smit Rick Jansen Eco de Geus Erin Dunn Qingqin S Li Matthias Nauck Robert A Schoevers Aartjan Tf Beekman James A Knowles Alexander Viktorin Paul Arnold Cathy L Barr Gabriel Bedoya-Berrio O Joseph Bienvenu Helena Brentani Christie Burton Beatriz Camarena Carolina Cappi Danielle Cath Maria Cavallini Daniele Cusi Sabrina Darrow Damiaan Denys Eske M Derks Andrea Dietrich Thomas Fernandez Martijn Figee Nelson Freimer Gloria Gerber Marco Grados Erica Greenberg Gregory L Hanna Andreas Hartmann Matthew E Hirschtritt Pieter J Hoekstra Alden Huang Chaim Huyser Cornelia Illmann Michael Jenike Samuel Kuperman Bennett Leventhal Christine Lochner Gholson J Lyon Fabio Macciardi Marcos Madruga-Garrido Irene A Malaty Athanasios Maras Lauren McGrath Eurípedes C Miguel Pablo Mir Gerald Nestadt Humberto Nicolini Michael S Okun Andrew Pakstis Peristera Paschou John Piacentini Christopher Pittenger Kerstin Plessen Vasily Ramensky Eliana M Ramos Victor Reus Margaret A Richter Mark A Riddle Mary M Robertson Veit Roessner Maria Rosário Jack F Samuels Paul Sandor Dan J Stein Fotis Tsetsos Filip Van Nieuwerburgh Sarah Weatherall Jens R Wendland Tomasz Wolanczyk Yulia Worbe Gwyneth Zai Fernando S Goes Nicole McLaughlin Paul S Nestadt Hans-Jorgen Grabe Christel Depienne Anuar Konkashbaev Nuria Lanzagorta Ana Valencia-Duarte Elvira Bramon Nancy Buccola Wiepke Cahn Murray Cairns Siow A Chong David Cohen Benedicto Crespo-Facorro James Crowley Michael Davidson Lynn DeLisi Timothy Dinan Gary Donohoe Elodie Drapeau Jubao Duan Lieuwe Haan David Hougaard Sena Karachanak-Yankova Andrey Khrunin Janis Klovins Vaidutis Kučinskas Jimmy Lee Chee Keong Svetlana Limborska Carmel Loughland Jouko Lönnqvist Brion Maher Manuel Mattheisen Colm McDonald Kieran C Murphy Igor Nenadic Jim van Os Christos Pantelis Michele Pato Tracey Petryshen Digby Quested Panos Roussos Alan R Sanders Ulrich Schall Sibylle G Schwab Kang Sim Hon-Cheong So Elisabeth Stögmann Mythily Subramaniam Draga Toncheva John Waddington James Walters Mark Weiser Wei Cheng Robert Cloninger David Curtis Pablo V Gejman Frans Henskens Morten Mattingsdal Sang-Yun Oh Rodney Scott Bradley Webb Gerome Breen Claire Churchhouse Cynthia M Bulik Mark Daly Martin Dichgans Stephen V Faraone Rita Guerreiro Peter Holmans Kenneth S Kendler Bobby Koeleman Carol A Mathews Alkes Price Jeremiah Scharf Pamela Sklar Julie Williams Nicholas W Wood Chris Cotsapas Aarno Palotie Jordan W Smoller Patrick Sullivan Jonathan Rosand Aiden Corvin Benjamin M Neale Jonathan M Schott Richard Anney Josephine Elia Maria Grigoroiu-Serbanescu Howard J Edenberg Robin Murray

Science 2018 06;360(6395)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1126/science.aap8757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097237PMC
June 2018

Prevalence and predictors of hair pulling disorder and excoriation disorder in Tourette syndrome.

Eur Child Adolesc Psychiatry 2018 May 2;27(5):569-579. Epub 2017 Nov 2.

Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Center for Genomic Medicine, Massachusetts General Hospital, 185 Cambridge Street, CPZN-6254, Boston, MA, 02114, USA.

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http://dx.doi.org/10.1007/s00787-017-1074-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932289PMC
May 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

Scikit-ribo Enables Accurate Estimation and Robust Modeling of Translation Dynamics at Codon Resolution.

Cell Syst 2018 Feb 17;6(2):180-191.e4. Epub 2018 Jan 17.

Simons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA; Departments of Computer Science and Biology, Johns Hopkins University, Baltimore, MD 21211, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cels.2017.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832574PMC
February 2018

Identification of Two Heritable Cross-Disorder Endophenotypes for Tourette Syndrome.

Am J Psychiatry 2017 04 4;174(4):387-396. Epub 2016 Nov 4.

From the Department of Psychiatry, University of California, San Francisco; the Department of Medicine, Vanderbilt University Medical Center, Nashville; the Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston; the Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore; the Department of Psychiatry and University Health Network, University of Toronto, Toronto; the Youthdale Treatment Centres, Toronto; the Department of Psychiatry, University of Montreal, Montreal; the Yale Child Study Center and the Department of Genetics, Yale University School of Medicine, New Haven, Conn.; the Feinstein Institute for Medical Research, North Shore/Long Island Jewish Health System, Manhasset, N.Y.; the Faculty of Social and Behavioral Sciences, Utrecht University, Utrecht, The Netherlands; the Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, N.Y.; the Department of Psychology, University of Denver, Denver; the Department of Psychiatry, University of Utah, Salt Lake City; the Department of Behavioral Health, Tripler Army Medical Center, Honolulu; the Departments of Neurology, Brigham and Women's Hospital and Massachusetts General Hospital, Boston; and the Department of Psychiatry, University of Florida, Gainesville.

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http://dx.doi.org/10.1176/appi.ajp.2016.16020240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378637PMC
April 2017

Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.

BMC Med Genomics 2017 02 23;10(1):10. Epub 2017 Feb 23.

Stanley Institute for Cognitive Genomics, One Bungtown Road, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.

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http://dx.doi.org/10.1186/s12920-017-0246-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5322674PMC
February 2017

Proteomic and genomic characterization of a yeast model for Ogden syndrome.

Yeast 2017 01 6;34(1):19-37. Epub 2016 Dec 6.

Stanley Institute for Cognitive Genomics, One Bungtown Road, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.

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http://dx.doi.org/10.1002/yea.3211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5248646PMC
January 2017

mutation in a child presenting with seizures and developmental delays.

Cold Spring Harb Mol Case Stud 2016 11;2(6):a001073

Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA;; Utah Foundation for Biomedical Research, Salt Lake City, Utah 84107, USA.

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http://dx.doi.org/10.1101/mcs.a001073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111007PMC
November 2016

KBG syndrome involving a single-nucleotide duplication in .

Cold Spring Harb Mol Case Stud 2016 11;2(6):a001131

Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA;; Utah Foundation for Biomedical Research, Salt Lake City, Utah 84107, USA.

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http://dx.doi.org/10.1101/mcs.a001131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111005PMC
November 2016

Social disinhibition is a heritable subphenotype of tics in Tourette syndrome.

Neurology 2016 Aug 1;87(5):497-504. Epub 2016 Jul 1.

From the Department of Psychiatry (M.E.H., S.M.D., K.L.D.), University of California, San Francisco; Psychiatric and Neurodevelopmental Genetics Unit (C.I., L.O., D.L.P., E.G., D.Y., J.M.S.), Center for Human Genetics Research, Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA; Department of Psychiatry and Behavioral Sciences (M.G.), Johns Hopkins University School of Medicine, Baltimore, MD; Department of Psychiatry (P.S.), University of Toronto and University Health Network, Youthdale Treatment Centers; Department of Psychiatry (Y.D.), University of Montreal, Canada; Yale Child Study Center (R.A.K.), Yale University School of Medicine, New Haven, CT; The Feinstein Institute for Medical Research (C.L.B.), North Shore Long Island Jewish Health System, Manhasset, NY; Faculty of Social and Behavioural Sciences (D.C.C.), Utrecht University and Altrecht Academic Anxiety Center, Utrecht, the Netherlands; Stanley Institute for Cognitive Genomics (G.J.L.), Cold Spring Harbor Laboratory, NY; School of Education (L.M.M.), American University, Washington, DC; Department of Psychiatry (W.M.M.), University of Utah, Salt Lake City; Department of Behavioral Health (P.C.L.), Tripler Army Medical Center, Honolulu, HI; Division of Cognitive and Behavioral Neurology (J.M.S.), Brigham and Women's Hospital, Harvard Medical School, Boston; Department of Neurology (J.M.S.), Massachusetts General Hospital, Harvard Medical School, Boston, MA; and Department of Psychiatry (C.A.M.), University of Florida, Gainesville.

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http://www.neurology.org/content/early/2016/07/01/WNL.000000
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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000002910DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970665PMC
August 2016

Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline.

Cold Spring Harb Mol Case Stud 2015 Oct;1(1):a000422

Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA;; Graduate Genetics Program, Stony Brook University, Stony Brook, New York 11794, USA;; Utah Foundation for Biomedical Research, Salt Lake City, Utah 84107, USA.

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http://dx.doi.org/10.1101/mcs.a000422DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850892PMC
October 2015

SeqMule: automated pipeline for analysis of human exome/genome sequencing data.

Sci Rep 2015 Sep 18;5:14283. Epub 2015 Sep 18.

Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, CA 90033, USA.

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http://dx.doi.org/10.1038/srep14283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4585643PMC
September 2015

The biological functions of Naa10 - From amino-terminal acetylation to human disease.

Gene 2015 Aug 16;567(2):103-31. Epub 2015 May 16.

Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, NY, USA; Department of Psychiatry, Stony Brook University, Stony Brook, NY, USA; Utah Foundation for Biomedical Research, Salt Lake City, UT, USA. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.04.085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461483PMC
August 2015

Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects.

Hum Mol Genet 2015 Apr 8;24(7):1956-76. Epub 2014 Dec 8.

Department of Molecular Biology, University of Bergen, Bergen N-5020, Norway, Department of Surgery, Haukeland University Hospital, N-5021 Bergen, Norway,

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http://dx.doi.org/10.1093/hmg/ddu611DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4355026PMC
April 2015

SeqHBase: a big data toolset for family based sequencing data analysis.

J Med Genet 2015 Apr 13;52(4):282-8. Epub 2015 Jan 13.

Utah Foundation for Biomedical Research, Provo, Utah, USA Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, California, USA Department of Psychiatry, University of Southern California, Los Angeles, California, USA.

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http://dx.doi.org/10.1136/jmedgenet-2014-102907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382803PMC
April 2015

Accounting for uncertainty in DNA sequencing data.

Trends Genet 2015 Feb 8;31(2):61-6. Epub 2015 Jan 8.

Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, NY, USA; Stony Brook University, Stony Brook, NY, USA; Utah Foundation for Biomedical Research, Salt Lake City, UT, USA. Electronic address:

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http://dx.doi.org/10.1016/j.tig.2014.12.002DOI Listing
February 2015

"Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline.

BMC Med Genomics 2014 Dec 3;7:66. Epub 2014 Dec 3.

Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, CA, 90089, USA.

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http://dx.doi.org/10.1186/s12920-014-0066-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267425PMC
December 2014

Reducing INDEL calling errors in whole genome and exome sequencing data.

Genome Med 2014 28;6(10):89. Epub 2014 Oct 28.

Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY USA ; Stony Brook University, 100 Nicolls Rd, Stony Brook, NY USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240813PMC
November 2014

Accurate de novo and transmitted indel detection in exome-capture data using microassembly.

Nat Methods 2014 Oct 17;11(10):1033-6. Epub 2014 Aug 17.

Simons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA.

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http://dx.doi.org/10.1038/nmeth.3069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4180789PMC
October 2014

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.

Authors:
Lauren M McGrath Dongmei Yu Christian Marshall Lea K Davis Bhooma Thiruvahindrapuram Bingbin Li Carolina Cappi Gloria Gerber Aaron Wolf Frederick A Schroeder Lisa Osiecki Colm O'Dushlaine Andrew Kirby Cornelia Illmann Stephen Haddad Patience Gallagher Jesen A Fagerness Cathy L Barr Laura Bellodi Fortu Benarroch O Joseph Bienvenu Donald W Black Michael H Bloch Ruth D Bruun Cathy L Budman Beatriz Camarena Danielle C Cath Maria C Cavallini Sylvain Chouinard Vladimir Coric Bernadette Cullen Richard Delorme Damiaan Denys Eske M Derks Yves Dion Maria C Rosário Valsama Eapen Patrick Evans Peter Falkai Thomas V Fernandez Helena Garrido Daniel Geller Hans J Grabe Marco A Grados Benjamin D Greenberg Varda Gross-Tsur Edna Grünblatt Gary A Heiman Sian M J Hemmings Luis D Herrera Ana G Hounie Joseph Jankovic James L Kennedy Robert A King Roger Kurlan Nuria Lanzagorta Marion Leboyer James F Leckman Leonhard Lennertz Christine Lochner Thomas L Lowe Gholson J Lyon Fabio Macciardi Wolfgang Maier James T McCracken William McMahon Dennis L Murphy Allan L Naarden Benjamin M Neale Erika Nurmi Andrew J Pakstis Michele T Pato Carlos N Pato John Piacentini Christopher Pittenger Yehuda Pollak Victor I Reus Margaret A Richter Mark Riddle Mary M Robertson David Rosenberg Guy A Rouleau Stephan Ruhrmann Aline S Sampaio Jack Samuels Paul Sandor Brooke Sheppard Harvey S Singer Jan H Smit Dan J Stein Jay A Tischfield Homero Vallada Jeremy Veenstra-VanderWeele Susanne Walitza Ying Wang Jens R Wendland Yin Yao Shugart Euripedes C Miguel Humberto Nicolini Ben A Oostra Rainald Moessner Michael Wagner Andres Ruiz-Linares Peter Heutink Gerald Nestadt Nelson Freimer Tracey Petryshen Danielle Posthuma Michael A Jenike Nancy J Cox Gregory L Hanna Helena Brentani Stephen W Scherer Paul D Arnold S Evelyn Stewart Carol A Mathews James A Knowles Edwin H Cook David L Pauls Kai Wang Jeremiah M Scharf

J Am Acad Child Adolesc Psychiatry 2014 Aug 24;53(8):910-9. Epub 2014 Jun 24.

Massachusetts General Hospital, Boston; Brigham and Womens Hospital, Boston; Harvard-MIT Broad Institute, Boston. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4218748PMC
August 2014

Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress.

Genome Med 2012 26;4(7):58. Epub 2012 Jul 26.

Institute for Genomic Medicine, Utah Foundation for Biomedical Research (UFBR), Salt Lake City, UT 84106, USA ; Zilkha Neurogenetic Institute, Department of Psychiatry and Preventive Medicine, University of Southern California, Los Angeles, CA 90089, USA.

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http://dx.doi.org/10.1186/gm359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580414PMC
June 2014

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

Genome Med 2013 27;5(3):28. Epub 2013 Mar 27.

Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, One Bungtown Rd, Cold Spring Harbor, 11724, USA ; Stony Brook University, 100 Nicolls Rd, Stony Brook, 11794, USA ; Utah Foundation for Biomedical Research, E 3300 S, Salt Lake City, 84106, USA.

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http://dx.doi.org/10.1186/gm432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3706896PMC
May 2014

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement.

Genome Med 2013 26;5(7):67. Epub 2013 Jul 26.

Center for Applied Genomics, Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA ; Department of Pediatrics, University of Pennsylvania School of Medicine, 3451 Walnut St, Philadelphia, PA 19104, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3971341PMC
May 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Practical, ethical and regulatory considerations for the evolving medical and research genomics landscape.

Appl Transl Genom 2013 Dec 26;2:34-40. Epub 2013 Feb 26.

New York Genome Center, New York City, NY, United States.

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http://dx.doi.org/10.1016/j.atg.2013.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133337PMC
December 2013

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

PeerJ 2013 3;1:e177. Epub 2013 Oct 3.

Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory , NY , USA ; Stony Brook University , Stony Brook, NY , USA.

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http://dx.doi.org/10.7717/peerj.177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3792182PMC
October 2013

Whole-genome sequencing in an autism multiplex family.

Mol Autism 2013 Apr 18;4(1). Epub 2013 Apr 18.

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1186/2040-2392-4-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3642023PMC
April 2013

There is nothing 'incidental' about unrelated findings.

Authors:
Gholson J Lyon

Per Med 2012 Mar;9(2):163-166

Institute for Genomic Medicine, Utah Foundation for Biomedical Research, Murray, UT, USA.

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http://dx.doi.org/10.2217/pme.11.98DOI Listing
March 2012

Personalized medicine: Bring clinical standards to human-genetics research.

Authors:
Gholson J Lyon

Nature 2012 Feb 15;482(7385):300-1. Epub 2012 Feb 15.

Institute for Genomic Medicine, Utah Foundation for Biomedical Research, Salt Lake City, Utah 84106, USA.

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http://dx.doi.org/10.1038/482300aDOI Listing
February 2012

SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data.

Nucleic Acids Res 2011 Oct 3;39(19):e132. Epub 2011 Aug 3.

Department of Computer Science, New Jersey Institute of Technology, Newark, NJ 08540, USA.

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http://dx.doi.org/10.1093/nar/gkr599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3201884PMC
October 2011

Presynaptic regulation of dopamine transmission in schizophrenia.

Schizophr Bull 2011 Jan 12;37(1):108-17. Epub 2009 Jun 12.

Department of Psychiatry, Columbia University, New York City, NY 10032, USA.

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http://dx.doi.org/10.1093/schbul/sbp010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004182PMC
January 2011

Tourette's Disorder.

Curr Treat Options Neurol 2010 Jul;12(4):274-86

Atlantic Neuroscience Institute, Overlook Hospital, 99 Beauvoir Avenue, Summit, NJ, 07902, USA.

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http://dx.doi.org/10.1007/s11940-010-0073-xDOI Listing
July 2010

Complex tics and complex management in a case of severe Tourette's disorder (TD) in an adolescent.

J Child Adolesc Psychopharmacol 2009 Aug;19(4):469-74

NYU Child Study Center, New York, New York 10016, USA.

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http://dx.doi.org/10.1089/cap.2009.19402DOI Listing
August 2009

Postraumatic stress disorder and reactive attachment disorder: outcome in an adolescent.

J Child Adolesc Psychopharmacol 2008 Dec;18(6):641-6

NYU Child Study Center, New York, New York 10016, USA.

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http://www.liebertpub.com/doi/10.1089/cap.2008.1863
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http://dx.doi.org/10.1089/cap.2008.1863DOI Listing
December 2008

Hydrophobic interactions drive ligand-receptor recognition for activation and inhibition of staphylococcal quorum sensing.

Proc Natl Acad Sci U S A 2004 Nov 4;101(46):16168-73. Epub 2004 Nov 4.

Molecular Pathogenesis Program and Department of Microbiology and Medicine, Skirball Institute of Biomolecular Medicine, New York University School of Medicine, 540 First Avenue, New York, NY 10016, USA.

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http://dx.doi.org/10.1073/pnas.0404039101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC528941PMC
November 2004

Peptide signaling in Staphylococcus aureus and other Gram-positive bacteria.

Peptides 2004 Sep;25(9):1389-403

Laboratory of Synthetic Protein Chemistry, The Rockefeller University, 1230 York Avenue, New York, NY 10021, USA.

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http://dx.doi.org/10.1016/j.peptides.2003.11.026DOI Listing
September 2004

Chemical signaling among bacteria and its inhibition.

Chem Biol 2003 Nov;10(11):1007-21

Laboratory of Synthetic Protein Chemistry, The Rockefeller University, 1230 York Avenue, New York, NY 10021, USA.

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November 2003

Detection of secreted peptides by using hypothesis-driven multistage mass spectrometry.

Proc Natl Acad Sci U S A 2003 Mar 18;100(5):2795-800. Epub 2003 Feb 18.

Laboratory of Mass Spectrometry and Gaseous Ion Chemistry, The Rockefeller University, 1230 York Avenue, New York, NY 10021 USA.

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http://dx.doi.org/10.1073/pnas.0436605100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC151420PMC
March 2003

Toward fully synthetic N-linked glycoproteins.

Angew Chem Int Ed Engl 2003 Jan;42(4):431-4

Laboratory for Bioorganic Chemistry, Sloan-Kettering Institute for Cancer Research, 1275 York Avenue, New York, NY 10021, USA.

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http://dx.doi.org/10.1002/anie.200390131DOI Listing
January 2003

Key determinants of receptor activation in the agr autoinducing peptides of Staphylococcus aureus.

Biochemistry 2002 Aug;41(31):10095-104

Laboratory of Synthetic Protein Chemistry, The Rockefeller University, 1230 York Avenue, New York, NY 10021, USA.

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August 2002

Reversible and specific extracellular antagonism of receptor-histidine kinase signaling.

J Biol Chem 2002 Feb 3;277(8):6247-53. Epub 2001 Dec 3.

Laboratory of Synthetic Protein Chemistry, The Rockefeller University, New York, New York 10021, USA.

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February 2002