Bobby Koeleman

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Bobby Koeleman

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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

Liprin alfa 2 gene expression is increased by cannabis use and associated with neuropsychological function.

Eur Neuropsychopharmacol 2019 May 15;29(5):643-652. Epub 2019 Mar 15.

Department of Psychiatry, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.euroneuro.2019.03.004DOI Listing
May 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
April 2019

Outcomes and comorbidities of SCN1A-related seizure disorders.

Epilepsy Behav 2019 01 5;90:252-259. Epub 2018 Dec 5.

Department of Genetics, University Medical Center Utrecht, Utrecht University, the Netherlands.

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http://dx.doi.org/10.1016/j.yebeh.2018.09.041DOI Listing
January 2019

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Authors:
Patrick May Simon Girard Merle Harrer Dheeraj R Bobbili Julian Schubert Stefan Wolking Felicitas Becker Pamela Lachance-Touchette Caroline Meloche Micheline Gravel Cristina E Niturad Julia Knaus Carolien De Kovel Mohamad Toliat Anne Polvi Michele Iacomino Rosa Guerrero-López Stéphanie Baulac Carla Marini Holger Thiele Janine Altmüller Kamel Jabbari Ann-Kathrin Ruppert Wiktor Jurkowski Dennis Lal Raffaella Rusconi Sandrine Cestèle Benedetta Terragni Ian D Coombs Christopher A Reid Pasquale Striano Hande Caglayan Auli Siren Kate Everett Rikke S Møller Helle Hjalgrim Hiltrud Muhle Ingo Helbig Wolfram S Kunz Yvonne G Weber Sarah Weckhuysen Peter De Jonghe Sanjay M Sisodiya Rima Nabbout Silvana Franceschetti Antonietta Coppola Maria S Vari Dorothée Kasteleijn-Nolst Trenité Betul Baykan Ugur Ozbek Nerses Bebek Karl M Klein Felix Rosenow Dang K Nguyen François Dubeau Lionel Carmant Anne Lortie Richard Desbiens Jean-François Clément Cécile Cieuta-Walti Graeme J Sills Pauls Auce Ben Francis Michael R Johnson Anthony G Marson Bianca Berghuis Josemir W Sander Andreja Avbersek Mark McCormack Gianpiero L Cavalleri Norman Delanty Chantal Depondt Martin Krenn Fritz Zimprich Sarah Peter Marina Nikanorova Robert Kraaij Jeroen van Rooij Rudi Balling M Arfan Ikram André G Uitterlinden Giuliano Avanzini Stephanie Schorge Steven Petrou Massimo Mantegazza Thomas Sander Eric LeGuern Jose M Serratosa Bobby P C Koeleman Aarno Palotie Anna-Elina Lehesjoki Michael Nothnagel Peter Nürnberg Snezana Maljevic Federico Zara Patrick Cossette Roland Krause Holger Lerche

Lancet Neurol 2018 08 17;17(8):699-708. Epub 2018 Jul 17.

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http://dx.doi.org/10.1016/S1474-4422(18)30215-1DOI Listing
August 2018

Abnormal islet sphingolipid metabolism in type 1 diabetes.

Diabetologia 2018 07 18;61(7):1650-1661. Epub 2018 Apr 18.

The Bartholin Institute, Department of Pathology, Rigshospitalet, Copenhagen Biocenter, Ole Maaløes Vej 5, 2200, Copenhagen N, Denmark.

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http://dx.doi.org/10.1007/s00125-018-4614-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445476PMC
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

Epilepsy surgery for patients with genetic refractory epilepsy: a systematic review.

Epileptic Disord 2018 Apr;20(2):99-115

Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht.

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http://dx.doi.org/10.1684/epd.2018.0959DOI Listing
April 2018

What do genetic studies tell us about the heritable basis of common epilepsy? Polygenic or complex epilepsy?

Neurosci Lett 2018 02 25;667:10-16. Epub 2017 Mar 25.

Department of Genetics, UMC Utrecht, Utrecht, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03043940173027
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http://dx.doi.org/10.1016/j.neulet.2017.03.042DOI Listing
February 2018

Carbamazepine- and oxcarbazepine-induced hyponatremia in people with epilepsy.

Epilepsia 2017 07 24;58(7):1227-1233. Epub 2017 May 24.

Stichting Epilepsie Instellingen Nederland (SEIN), Zwolle, The Netherlands.

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http://dx.doi.org/10.1111/epi.13777DOI Listing
July 2017

Identification of coagulation gene 3'UTR variants that are potentially regulated by microRNAs.

Br J Haematol 2017 06 26;177(5):782-790. Epub 2017 Apr 26.

Servicio de Hematología y Oncología Médica. Hospital Universitario Morales Meseguer y Centro Regional de Hemodonación, IMIB-Arrixaca, Universidad de Murcia, Murcia, Spain.

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http://dx.doi.org/10.1111/bjh.14629DOI Listing
June 2017

Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations.

Eur J Paediatr Neurol 2017 Mar 19;21(2):396-403. Epub 2016 Nov 19.

Department of Neonatology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.11.002DOI Listing
March 2017

Genetics of common forms of epilepsy.

Lancet Neurol 2017 02;16(2):101-102

Department of Genetics, University Medical Centre Utrecht, Universiteitsweg 100, 3584CX, Netherland. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(16)30400-8DOI Listing
February 2017

Vitamin D receptor polymorphisms and growth until adulthood after very premature birth.

J Bone Miner Metab 2016 Sep 28;34(5):564-70. Epub 2015 Jul 28.

Department of Pediatrics, Leiden University Medical Center, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s00774-015-0697-8DOI Listing
September 2016

Genome-wide association study of sporadic brain arteriovenous malformations.

J Neurol Neurosurg Psychiatry 2016 09 27;87(9):916-23. Epub 2016 Jan 27.

Department of Anesthesia and Perioperative Care, Center for Cerebrovascular Research, University of California, San Francisco, California, USA Department of Epidemiology and Biostatistics, University of California, San Francisco, California, USA Institute for Human Genetics, University of California, San Francisco, California, USA.

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http://dx.doi.org/10.1136/jnnp-2015-312272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4963303PMC
September 2016

Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.

J Neurol 2016 Jan 12;263(1):11-6. Epub 2015 Oct 12.

Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center Schleswig-Holstein, Kiel, Germany.

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http://dx.doi.org/10.1007/s00415-015-7921-2DOI Listing
January 2016

Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.

Epilepsy Res 2015 Sep 15;115:141-4. Epub 2015 Jun 15.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.eplepsyres.2015.06.007DOI Listing
September 2015

Genetic Factors for the Severity of ACPA-negative Rheumatoid Arthritis in 2 Cohorts of Early Disease: A Genome-wide Study.

J Rheumatol 2015 Aug 15;42(8):1383-91. Epub 2015 Jun 15.

From the Department of Rheumatology, and the Department of Medical Statistics, Leiden University Medical Center, Leiden, the Netherlands; the Section of Rheumatology at the Institution of Clinical Science, Lund University, Skåne University Hospital, Lund, Sweden, for the BARFOT study group; the Department of Genetics, University Medical Center Groningen and University of Groningen, Groningen, The Netherlands; Center of Experimental Rheumatology, University Hospital Zurich, Schlieren, Switzerland; the Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.D.P. de Rooy, LLM, MD, PhD, Department of Rheumatology, Leiden University Medical Center; R. Tsonaka, PhD, Department of Medical Statistics, Leiden University Medical Center; M.L. Andersson, BMS, PhD; K. Forslind, Associate Professor, Senior Consultant, Section of Rheumatology at the Institution of Clinical Science, Lund University, Skåne University Hospital, for the BARFOT study group; A. Zhernakova, MD, PhD, Department of Rheumatology, Leiden University Medical Center, and Department of Genetics, University Medical Center Groningen and University of Groningen; M. Frank-Bertoncelj, MD, PhD, Center of Experimental Rheumatology, University Hospital Zurich; C.G. de Kovel, PhD; B.P. Koeleman, PhD, Department of Medical Genetics, University Medical Center Utrecht; D.M. van der Heijde, MD, PhD; T.W. Huizinga, MD, PhD; R.E. Toes, PhD, Department of Rheumatology, Leiden University Medical Center; J.J. Houwing-Duistermaat, PhD, PD, Department of Medical Statistics, Leiden University Medical Center; C. Ospelt, MD, PhD, Center of Experimental Rheumatology, University Hospital Zurich; B. Svensson, MD, PhD, Section of Rheumatology at the Institution of Clinical Science, Lund University, Skåne University Hospital, for the BARFOT study group; A.H. van der Helm-van Mil, MD, PhD, Department of Rheumatology, Leiden University Medical Center.

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http://dx.doi.org/10.3899/jrheum.140741DOI Listing
August 2015

Effect of vaccinations on seizure risk and disease course in Dravet syndrome.

Neurology 2015 Aug 22;85(7):596-603. Epub 2015 Jul 22.

From the Department of Medical Genetics (N.E.V., A.C.M.S., E.I., M.v.K., C.G.F.d.K., B.P.C.K., N.V.K., D.L., E.H.B.) and Department of Child Neurology, Brain Center Rudolf Magnus (F.E.J., K.P.B.), University Medical Center Utrecht; Centre for Infectious Disease Control (N.A.T.v.d.M., P.E.V.-d.B., J.M.K.), National Institute for Public Health and Environment-RIVM, Bilthoven; Stichting Epilepsie Instellingen Nederland (E.H., W.B.G.), Zwolle; Stichting Epilepsie Instellingen Nederland (H.H.G., P.B.A.), Heemstede; Epilepsy Center Kempenhaeghe (A.d.L.), Heeze; Department of Child Neurology (R.F.N.), Erasmus Medical Centre, Rotterdam; Department of Child Neurology (J.H.S.), Radboud Medical Centre, Nijmegen; Department of Neurology (H.S.), Canisius-Wilhelmina Hospital, Nijmegen; Department of Child Neurology (R.J.V.), VU Medical Centre, Amsterdam; Department of Child Neurology (J.N.), Maastricht University Medical Centre; and Department of Neurology (O.F.B.), University of Groningen, University Medical Centre of Groningen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000001855DOI Listing
August 2015

A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility.

Am J Hum Genet 2015 Apr 26;96(4):565-80. Epub 2015 Mar 26.

Instituto de Parasitología y Biomedicina "López-Neyra," CSIC, PTS Granada, Granada 18016, Spain.

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http://dx.doi.org/10.1016/j.ajhg.2015.02.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385191PMC
April 2015

Do inhibitory immune receptors play a role in the etiology of autoimmune disease?

Clin Immunol 2014 Jan 19;150(1):31-42. Epub 2013 Nov 19.

Laboratory of Translational Immunology, Department of Immunology, University Medical Centre Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2013.11.007DOI Listing
January 2014

Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis.

Am J Hum Genet 2014 Jan;94(1):47-61

Instituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas, Granada 18016, Spain.

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http://eprints.gla.ac.uk/104672/1/104672.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971300571
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http://dx.doi.org/10.1016/j.ajhg.2013.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882906PMC
January 2014

Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation.

J Gen Physiol 2013 Dec;142(6):641-53

Department of Medical Genetics, Division of Biomedical Genetics, and 2 Department of Medical Physiology, Division of Heart and Lungs, University Medical Center Utrecht, 3508 AB Utrecht, Netherlands.

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http://dx.doi.org/10.1085/jgp.201311042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3840920PMC
December 2013

Imaging gene and environmental effects on cerebellum in Attention-Deficit/Hyperactivity Disorder and typical development.

Neuroimage Clin 2012 6;2:103-10. Epub 2012 Dec 6.

Neuroimaging Lab, Developmental Disorders Unit, Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.nicl.2012.11.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3777835PMC
November 2013

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Brain 2013 Oct 6;136(Pt 10):3140-50. Epub 2013 Sep 6.

1 NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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https://academic.oup.com/brain/article/136/10/3140/330027
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http://dx.doi.org/10.1093/brain/awt233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784283PMC
October 2013

The quest for juvenile myoclonic epilepsy genes.

Epilepsy Behav 2013 Jul;28 Suppl 1:S52-7

Epilepsy Genetics/Genomics Laboratories, Neurology and Research Services, VA GLAHS-West Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.yebeh.2012.06.033DOI Listing
July 2013

Photoparoxysmal EEG response and genetic dissection of juvenile myoclonic epilepsy.

Epilepsy Behav 2013 Jul;28 Suppl 1:S69-71

Department of Medical Genetics, University Medical Center Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.yebeh.2012.07.016DOI Listing
July 2013

Polymorphisms in ACVRL1 and endoglin genes are not associated with sporadic and HHT-related brain AVMs in Dutch patients.

Transl Stroke Res 2013 Jun 29;4(3):375-378. Epub 2012 Nov 29.

Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neurosciences, University Medical Center Utrecht, Heidelberglaan 100, 3484CX, The Netherlands.

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http://dx.doi.org/10.1007/s12975-012-0231-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4038301PMC
June 2013

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Hum Mol Genet 2012 Dec 4;21(24):5359-72. Epub 2012 Sep 4.

Institute for Medical Biometry, Informatic and Epidemiology, University of Bonn, Bonn, Germany.

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http://hmg.oxfordjournals.org/content/21/24/5359.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds373
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http://dx.doi.org/10.1093/hmg/dds373DOI Listing
December 2012

Genetic correlates of early accelerated infant growth associated with juvenile-onset type 1 diabetes.

Pediatr Diabetes 2012 May 20;13(3):266-71. Epub 2011 Sep 20.

Department of Paediatrics, Erasmus University Medical Centre/Sophia Children's Hospital, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1111/j.1399-5448.2011.00813.xDOI Listing
May 2012

Transfer of regulatory properties from tolerogenic to proinflammatory dendritic cells via induced autoreactive regulatory T cells.

J Immunol 2011 Dec 14;187(12):6357-64. Epub 2011 Nov 14.

Department of Immunohematology and Blood Transfusion, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

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http://dx.doi.org/10.4049/jimmunol.1101638DOI Listing
December 2011

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

Eur J Neurosci 2011 Oct 22;34(8):1268-75. Epub 2011 Aug 22.

Division of Biomedical Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1111/j.1460-9568.2011.07826.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3195841PMC
October 2011

Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.

PLoS Genet 2011 Jul 14;7(7):e1002178. Epub 2011 Jul 14.

Department of Epidemiology, M. D. Anderson Cancer Center, Houston, Texas, USA.

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http://dx.doi.org/10.1371/journal.pgen.1002178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3136437PMC
July 2011

Endocrine autoimmune disease: genetics become complex.

Eur J Clin Invest 2010 Dec 16;40(12):1144-55. Epub 2010 Aug 16.

Department of Endocrinology, University Medical Centre Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1111/j.1365-2362.2010.02366.xDOI Listing
December 2010

Association of IL-2RA/CD25 with type 1 diabetes in the Belgian population.

Hum Immunol 2010 Dec 16;71(12):1233-7. Epub 2010 Sep 16.

Diabetes Research Center, Faculty of Medicine and Pharmacy, Brussels Free University-Vrije Universiteit Brussel (VUB), Brussels, Belgium.

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http://dx.doi.org/10.1016/j.humimm.2010.09.006DOI Listing
December 2010

Association study of TRPC4 as a candidate gene for generalized epilepsy with photosensitivity.

Neuromolecular Med 2010 Sep 24;12(3):292-9. Epub 2010 Jun 24.

Department of Neuropediatrics, University Hospital Schleswig-Holstein, Campus Kiel, Arnold-Heller-Str.3, Building 9, Kiel, Germany.

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http://dx.doi.org/10.1007/s12017-010-8122-xDOI Listing
September 2010