Publications by authors named "Han G Brunner"

100Publications

50 years of Robinow syndrome.

Am J Med Genet A 2020 Jul 21. Epub 2020 Jul 21.

Department of Human Genetics, Radboud Institute for Cognitive Neuroscience DCN, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.61756DOI Listing
July 2020

The genetic architecture of the human cerebral cortex.

Authors:
Katrina L Grasby Neda Jahanshad Jodie N Painter Lucía Colodro-Conde Janita Bralten Derrek P Hibar Penelope A Lind Fabrizio Pizzagalli Christopher R K Ching Mary Agnes B McMahon Natalia Shatokhina Leo C P Zsembik Sophia I Thomopoulos Alyssa H Zhu Lachlan T Strike Ingrid Agartz Saud Alhusaini Marcio A A Almeida Dag Alnæs Inge K Amlien Micael Andersson Tyler Ard Nicola J Armstrong Allison Ashley-Koch Joshua R Atkins Manon Bernard Rachel M Brouwer Elizabeth E L Buimer Robin Bülow Christian Bürger Dara M Cannon Mallar Chakravarty Qiang Chen Joshua W Cheung Baptiste Couvy-Duchesne Anders M Dale Shareefa Dalvie Tânia K de Araujo Greig I de Zubicaray Sonja M C de Zwarte Anouk den Braber Nhat Trung Doan Katharina Dohm Stefan Ehrlich Hannah-Ruth Engelbrecht Susanne Erk Chun Chieh Fan Iryna O Fedko Sonya F Foley Judith M Ford Masaki Fukunaga Melanie E Garrett Tian Ge Sudheer Giddaluru Aaron L Goldman Melissa J Green Nynke A Groenewold Dominik Grotegerd Tiril P Gurholt Boris A Gutman Narelle K Hansell Mathew A Harris Marc B Harrison Courtney C Haswell Michael Hauser Stefan Herms Dirk J Heslenfeld New Fei Ho David Hoehn Per Hoffmann Laurena Holleran Martine Hoogman Jouke-Jan Hottenga Masashi Ikeda Deborah Janowitz Iris E Jansen Tianye Jia Christiane Jockwitz Ryota Kanai Sherif Karama Dalia Kasperaviciute Tobias Kaufmann Sinead Kelly Masataka Kikuchi Marieke Klein Michael Knapp Annchen R Knodt Bernd Krämer Max Lam Thomas M Lancaster Phil H Lee Tristram A Lett Lindsay B Lewis Iscia Lopes-Cendes Michelle Luciano Fabio Macciardi Andre F Marquand Samuel R Mathias Tracy R Melzer Yuri Milaneschi Nazanin Mirza-Schreiber Jose C V Moreira Thomas W Mühleisen Bertram Müller-Myhsok Pablo Najt Soichiro Nakahara Kwangsik Nho Loes M Olde Loohuis Dimitri Papadopoulos Orfanos John F Pearson Toni L Pitcher Benno Pütz Yann Quidé Anjanibhargavi Ragothaman Faisal M Rashid William R Reay Ronny Redlich Céline S Reinbold Jonathan Repple Geneviève Richard Brandalyn C Riedel Shannon L Risacher Cristiane S Rocha Nina Roth Mota Lauren Salminen Arvin Saremi Andrew J Saykin Fenja Schlag Lianne Schmaal Peter R Schofield Rodrigo Secolin Chin Yang Shapland Li Shen Jean Shin Elena Shumskaya Ida E Sønderby Emma Sprooten Katherine E Tansey Alexander Teumer Anbupalam Thalamuthu Diana Tordesillas-Gutiérrez Jessica A Turner Anne Uhlmann Costanza Ludovica Vallerga Dennis van der Meer Marjolein M J van Donkelaar Liza van Eijk Theo G M van Erp Neeltje E M van Haren Daan van Rooij Marie-José van Tol Jan H Veldink Ellen Verhoef Esther Walton Mingyuan Wang Yunpeng Wang Joanna M Wardlaw Wei Wen Lars T Westlye Christopher D Whelan Stephanie H Witt Katharina Wittfeld Christiane Wolf Thomas Wolfers Jing Qin Wu Clarissa L Yasuda Dario Zaremba Zuo Zhang Marcel P Zwiers Eric Artiges Amelia A Assareh Rosa Ayesa-Arriola Aysenil Belger Christine L Brandt Gregory G Brown Sven Cichon Joanne E Curran Gareth E Davies Franziska Degenhardt Michelle F Dennis Bruno Dietsche Srdjan Djurovic Colin P Doherty Ryan Espiritu Daniel Garijo Yolanda Gil Penny A Gowland Robert C Green Alexander N Häusler Walter Heindel Beng-Choon Ho Wolfgang U Hoffmann Florian Holsboer Georg Homuth Norbert Hosten Clifford R Jack MiHyun Jang Andreas Jansen Nathan A Kimbrel Knut Kolskår Sanne Koops Axel Krug Kelvin O Lim Jurjen J Luykx Daniel H Mathalon Karen A Mather Venkata S Mattay Sarah Matthews Jaqueline Mayoral Van Son Sarah C McEwen Ingrid Melle Derek W Morris Bryon A Mueller Matthias Nauck Jan E Nordvik Markus M Nöthen Daniel S O'Leary Nils Opel Marie-Laure Paillère Martinot G Bruce Pike Adrian Preda Erin B Quinlan Paul E Rasser Varun Ratnakar Simone Reppermund Vidar M Steen Paul A Tooney Fábio R Torres Dick J Veltman James T Voyvodic Robert Whelan Tonya White Hidenaga Yamamori Hieab H H Adams Joshua C Bis Stephanie Debette Charles Decarli Myriam Fornage Vilmundur Gudnason Edith Hofer M Arfan Ikram Lenore Launer W T Longstreth Oscar L Lopez Bernard Mazoyer Thomas H Mosley Gennady V Roshchupkin Claudia L Satizabal Reinhold Schmidt Sudha Seshadri Qiong Yang Marina K M Alvim David Ames Tim J Anderson Ole A Andreassen Alejandro Arias-Vasquez Mark E Bastin Bernhard T Baune Jean C Beckham John Blangero Dorret I Boomsma Henry Brodaty Han G Brunner Randy L Buckner Jan K Buitelaar Juan R Bustillo Wiepke Cahn Murray J Cairns Vince Calhoun Vaughan J Carr Xavier Caseras Svenja Caspers Gianpiero L Cavalleri Fernando Cendes Aiden Corvin Benedicto Crespo-Facorro John C Dalrymple-Alford Udo Dannlowski Eco J C de Geus Ian J Deary Norman Delanty Chantal Depondt Sylvane Desrivières Gary Donohoe Thomas Espeseth Guillén Fernández Simon E Fisher Herta Flor Andreas J Forstner Clyde Francks Barbara Franke David C Glahn Randy L Gollub Hans J Grabe Oliver Gruber Asta K Håberg Ahmad R Hariri Catharina A Hartman Ryota Hashimoto Andreas Heinz Frans A Henskens Manon H J Hillegers Pieter J Hoekstra Avram J Holmes L Elliot Hong William D Hopkins Hilleke E Hulshoff Pol Terry L Jernigan Erik G Jönsson René S Kahn Martin A Kennedy Tilo T J Kircher Peter Kochunov John B J Kwok Stephanie Le Hellard Carmel M Loughland Nicholas G Martin Jean-Luc Martinot Colm McDonald Katie L McMahon Andreas Meyer-Lindenberg Patricia T Michie Rajendra A Morey Bryan Mowry Lars Nyberg Jaap Oosterlaan Roel A Ophoff Christos Pantelis Tomas Paus Zdenka Pausova Brenda W J H Penninx Tinca J C Polderman Danielle Posthuma Marcella Rietschel Joshua L Roffman Laura M Rowland Perminder S Sachdev Philipp G Sämann Ulrich Schall Gunter Schumann Rodney J Scott Kang Sim Sanjay M Sisodiya Jordan W Smoller Iris E Sommer Beate St Pourcain Dan J Stein Arthur W Toga Julian N Trollor Nic J A Van der Wee Dennis van 't Ent Henry Völzke Henrik Walter Bernd Weber Daniel R Weinberger Margaret J Wright Juan Zhou Jason L Stein Paul M Thompson Sarah E Medland

Science 2020 03;367(6484)

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http://dx.doi.org/10.1126/science.aay6690DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7295264PMC
March 2020

Contribution of Intellectual Disability-Related Genes to ADHD Risk and to Locomotor Activity in .

Am J Psychiatry 2020 06 12;177(6):526-536. Epub 2020 Feb 12.

Department of Human Genetics (Klein, Singgih, van Rens, Mota, Castells-Nobau, Brunner, Arias-Vasquez, Schenck, van der Voet, Franke), Department of Psychiatry (Mota, Arias-Vasquez, Franke), and Department for Health Evidence (Kiemeney), Radboud University Medical Center and Donders Institute for Brain, Cognition, and Behavior, Nijmegen, the Netherlands; Department of Biomedicine and Center for Integrative Sequencing (iSEQ), Aarhus University, Aarhus, Denmark (Demontis, Børglum); and Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Denmark (Demontis, Børglum).

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http://dx.doi.org/10.1176/appi.ajp.2019.18050599DOI Listing
June 2020

Leveraging genomic diversity to promote human and animal health.

Commun Biol 2019 11;2:463. Epub 2019 Dec 11.

4Centre for Tropical Livestock Genetics and Health, The University of Edinburgh, Scotland, UK.

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http://dx.doi.org/10.1038/s42003-019-0708-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906360PMC
July 2020

Genetic architecture of subcortical brain structures in 38,851 individuals.

Authors:
Claudia L Satizabal Hieab H H Adams Derrek P Hibar Charles C White Maria J Knol Jason L Stein Markus Scholz Muralidharan Sargurupremraj Neda Jahanshad Gennady V Roshchupkin Albert V Smith Joshua C Bis Xueqiu Jian Michelle Luciano Edith Hofer Alexander Teumer Sven J van der Lee Jingyun Yang Lisa R Yanek Tom V Lee Shuo Li Yanhui Hu Jia Yu Koh John D Eicher Sylvane Desrivières Alejandro Arias-Vasquez Ganesh Chauhan Lavinia Athanasiu Miguel E Rentería Sungeun Kim David Hoehn Nicola J Armstrong Qiang Chen Avram J Holmes Anouk den Braber Iwona Kloszewska Micael Andersson Thomas Espeseth Oliver Grimm Lucija Abramovic Saud Alhusaini Yuri Milaneschi Martina Papmeyer Tomas Axelsson Stefan Ehrlich Roberto Roiz-Santiañez Bernd Kraemer Asta K Håberg Hannah J Jones G Bruce Pike Dan J Stein Allison Stevens Janita Bralten Meike W Vernooij Tamara B Harris Irina Filippi A Veronica Witte Tulio Guadalupe Katharina Wittfeld Thomas H Mosley James T Becker Nhat Trung Doan Saskia P Hagenaars Yasaman Saba Gabriel Cuellar-Partida Najaf Amin Saima Hilal Kwangsik Nho Nazanin Mirza-Schreiber Konstantinos Arfanakis Diane M Becker David Ames Aaron L Goldman Phil H Lee Dorret I Boomsma Simon Lovestone Sudheer Giddaluru Stephanie Le Hellard Manuel Mattheisen Marc M Bohlken Dalia Kasperaviciute Lianne Schmaal Stephen M Lawrie Ingrid Agartz Esther Walton Diana Tordesillas-Gutierrez Gareth E Davies Jean Shin Jonathan C Ipser Louis N Vinke Martine Hoogman Tianye Jia Ralph Burkhardt Marieke Klein Fabrice Crivello Deborah Janowitz Owen Carmichael Unn K Haukvik Benjamin S Aribisala Helena Schmidt Lachlan T Strike Ching-Yu Cheng Shannon L Risacher Benno Pütz Debra A Fleischman Amelia A Assareh Venkata S Mattay Randy L Buckner Patrizia Mecocci Anders M Dale Sven Cichon Marco P Boks Mar Matarin Brenda W J H Penninx Vince D Calhoun M Mallar Chakravarty Andre F Marquand Christine Macare Shahrzad Kharabian Masouleh Jaap Oosterlaan Philippe Amouyel Katrin Hegenscheid Jerome I Rotter Andrew J Schork David C M Liewald Greig I de Zubicaray Tien Yin Wong Li Shen Philipp G Sämann Henry Brodaty Joshua L Roffman Eco J C de Geus Magda Tsolaki Susanne Erk Kristel R van Eijk Gianpiero L Cavalleri Nic J A van der Wee Andrew M McIntosh Randy L Gollub Kazima B Bulayeva Manon Bernard Jennifer S Richards Jayandra J Himali Markus Loeffler Nanda Rommelse Wolfgang Hoffmann Lars T Westlye Maria C Valdés Hernández Narelle K Hansell Theo G M van Erp Christiane Wolf John B J Kwok Bruno Vellas Andreas Heinz Loes M Olde Loohuis Norman Delanty Beng-Choon Ho Christopher R K Ching Elena Shumskaya Baljeet Singh Albert Hofman Dennis van der Meer Georg Homuth Bruce M Psaty Mark E Bastin Grant W Montgomery Tatiana M Foroud Simone Reppermund Jouke-Jan Hottenga Andrew Simmons Andreas Meyer-Lindenberg Wiepke Cahn Christopher D Whelan Marjolein M J van Donkelaar Qiong Yang Norbert Hosten Robert C Green Anbupalam Thalamuthu Sebastian Mohnke Hilleke E Hulshoff Pol Honghuang Lin Clifford R Jack Peter R Schofield Thomas W Mühleisen Pauline Maillard Steven G Potkin Wei Wen Evan Fletcher Arthur W Toga Oliver Gruber Matthew Huentelman George Davey Smith Lenore J Launer Lars Nyberg Erik G Jönsson Benedicto Crespo-Facorro Nastassja Koen Douglas N Greve André G Uitterlinden Daniel R Weinberger Vidar M Steen Iryna O Fedko Nynke A Groenewold Wiro J Niessen Roberto Toro Christophe Tzourio William T Longstreth M Kamran Ikram Jordan W Smoller Marie-Jose van Tol Jessika E Sussmann Tomas Paus Hervé Lemaître Matthias L Schroeter Bernard Mazoyer Ole A Andreassen Florian Holsboer Chantal Depondt Dick J Veltman Jessica A Turner Zdenka Pausova Gunter Schumann Daan van Rooij Srdjan Djurovic Ian J Deary Katie L McMahon Bertram Müller-Myhsok Rachel M Brouwer Hilkka Soininen Massimo Pandolfo Thomas H Wassink Joshua W Cheung Thomas Wolfers Jean-Luc Martinot Marcel P Zwiers Matthias Nauck Ingrid Melle Nicholas G Martin Ryota Kanai Eric Westman René S Kahn Sanjay M Sisodiya Tonya White Arvin Saremi Hans van Bokhoven Han G Brunner Henry Völzke Margaret J Wright Dennis van 't Ent Markus M Nöthen Roel A Ophoff Jan K Buitelaar Guillén Fernández Perminder S Sachdev Marcella Rietschel Neeltje E M van Haren Simon E Fisher Alexa S Beiser Clyde Francks Andrew J Saykin Karen A Mather Nina Romanczuk-Seiferth Catharina A Hartman Anita L DeStefano Dirk J Heslenfeld Michael W Weiner Henrik Walter Pieter J Hoekstra Paul A Nyquist Barbara Franke David A Bennett Hans J Grabe Andrew D Johnson Christopher Chen Cornelia M van Duijn Oscar L Lopez Myriam Fornage Joanna M Wardlaw Reinhold Schmidt Charles DeCarli Philip L De Jager Arno Villringer Stéphanie Debette Vilmundur Gudnason Sarah E Medland Joshua M Shulman Paul M Thompson Sudha Seshadri M Arfan Ikram

Nat Genet 2019 11 21;51(11):1624-1636. Epub 2019 Oct 21.

Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1038/s41588-019-0511-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7055269PMC
November 2019

Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature.

Hum Mutat 2020 01 23;41(1):196-202. Epub 2019 Sep 23.

Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/humu.23909DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6972609PMC
January 2020

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 05 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy.

Circ Heart Fail 2018 11;11(11):e005220

Department of Cardiology, Maastricht University Medical Centre, the Netherlands (J.A.J.V., M.R.H., S.S.-v.W., J.J.M., H.-P.B.-L.R., S.R.B.H.).

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http://dx.doi.org/10.1161/CIRCHEARTFAILURE.118.005220DOI Listing
November 2018

Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity.

Curr Biol 2019 01 13;29(1):120-127.e5. Epub 2018 Dec 13.

Language and Genetics Department, Max Planck Institute for Psycholinguistics, P.O. Box 310, 6500 AH, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.cub.2018.10.065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380688PMC
January 2019

Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.

Eur J Hum Genet 2019 03 12;27(3):389-399. Epub 2018 Nov 12.

Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.

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http://www.nature.com/articles/s41431-018-0294-0
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http://dx.doi.org/10.1038/s41431-018-0294-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460565PMC
March 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

1 in 38 individuals at risk of a dominant medically actionable disease.

Eur J Hum Genet 2019 02 5;27(2):325-330. Epub 2018 Oct 5.

Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://www.nature.com/articles/s41431-018-0284-2
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http://dx.doi.org/10.1038/s41431-018-0284-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336841PMC
February 2019

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Am J Hum Genet 2018 05 12;102(5):995-1007. Epub 2018 Apr 12.

Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986694PMC
May 2018

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.

Mol Genet Genomic Med 2018 05 24;6(3):393-400. Epub 2018 Mar 24.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.

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http://doi.wiley.com/10.1002/mgg3.387
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http://dx.doi.org/10.1002/mgg3.387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014478PMC
May 2018

Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated Cardiomyopathy.

Circ Heart Fail 2018 03;11(3):e004682

From the Department of Cardiology (M.R.H., J.V., M.H., L.S., L.v.M., R.D., H.J.G.M.C., H.-P.B.-L.R., S.H.), Department of Clinical Genetics (I.K., J.V., A.v.d.W., E.V., M.W., H.G.B.), and Department of Cardiovascular Sciences (S.H.), Leuven University, Belgium; Belgium and Netherlands Heart Institute, Utrecht (S.H.); and Maastricht University Medical Centre, The Netherlands (S.H.).

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http://dx.doi.org/10.1161/CIRCHEARTFAILURE.117.004682DOI Listing
March 2018

2017 Curt Stern Award Introduction: Nico Katsanis.

Authors:
Han G Brunner

Am J Hum Genet 2018 Mar;102(3):354

Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, 6500 GA, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, 6202 AZ, Maastricht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.01.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985264PMC
March 2018

Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias.

Eur Heart J 2018 03;39(10):864-873

Department of Cardiology, Maastricht University Medical Centre, Center for Heart Failure Research, Cardiovascular Research Institute Maastricht (CARIM), University Hospital Maastricht, P. Debyelaan 25, 6229 HX Maastricht, The Netherlands.

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http://dx.doi.org/10.1093/eurheartj/ehx808DOI Listing
March 2018

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Am J Hum Genet 2017 Sep;101(3):466-477

Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591022PMC
September 2017

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.

Am J Hum Genet 2017 Sep 31;101(3):478-484. Epub 2017 Aug 31.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591029PMC
September 2017

Novel genetic loci associated with hippocampal volume.

Authors:
Derrek P Hibar Hieab H H Adams Neda Jahanshad Ganesh Chauhan Jason L Stein Edith Hofer Miguel E Renteria Joshua C Bis Alejandro Arias-Vasquez M Kamran Ikram Sylvane Desrivières Meike W Vernooij Lucija Abramovic Saud Alhusaini Najaf Amin Micael Andersson Konstantinos Arfanakis Benjamin S Aribisala Nicola J Armstrong Lavinia Athanasiu Tomas Axelsson Ashley H Beecham Alexa Beiser Manon Bernard Susan H Blanton Marc M Bohlken Marco P Boks Janita Bralten Adam M Brickman Owen Carmichael M Mallar Chakravarty Qiang Chen Christopher R K Ching Vincent Chouraki Gabriel Cuellar-Partida Fabrice Crivello Anouk Den Braber Nhat Trung Doan Stefan Ehrlich Sudheer Giddaluru Aaron L Goldman Rebecca F Gottesman Oliver Grimm Michael E Griswold Tulio Guadalupe Boris A Gutman Johanna Hass Unn K Haukvik David Hoehn Avram J Holmes Martine Hoogman Deborah Janowitz Tianye Jia Kjetil N Jørgensen Nazanin Karbalai Dalia Kasperaviciute Sungeun Kim Marieke Klein Bernd Kraemer Phil H Lee David C M Liewald Lorna M Lopez Michelle Luciano Christine Macare Andre F Marquand Mar Matarin Karen A Mather Manuel Mattheisen David R McKay Yuri Milaneschi Susana Muñoz Maniega Kwangsik Nho Allison C Nugent Paul Nyquist Loes M Olde Loohuis Jaap Oosterlaan Martina Papmeyer Lukas Pirpamer Benno Pütz Adaikalavan Ramasamy Jennifer S Richards Shannon L Risacher Roberto Roiz-Santiañez Nanda Rommelse Stefan Ropele Emma J Rose Natalie A Royle Tatjana Rundek Philipp G Sämann Arvin Saremi Claudia L Satizabal Lianne Schmaal Andrew J Schork Li Shen Jean Shin Elena Shumskaya Albert V Smith Emma Sprooten Lachlan T Strike Alexander Teumer Diana Tordesillas-Gutierrez Roberto Toro Daniah Trabzuni Stella Trompet Dhananjay Vaidya Jeroen Van der Grond Sven J Van der Lee Dennis Van der Meer Marjolein M J Van Donkelaar Kristel R Van Eijk Theo G M Van Erp Daan Van Rooij Esther Walton Lars T Westlye Christopher D Whelan Beverly G Windham Anderson M Winkler Katharina Wittfeld Girma Woldehawariat Christiane Wolf Thomas Wolfers Lisa R Yanek Jingyun Yang Alex Zijdenbos Marcel P Zwiers Ingrid Agartz Laura Almasy David Ames Philippe Amouyel Ole A Andreassen Sampath Arepalli Amelia A Assareh Sandra Barral Mark E Bastin Diane M Becker James T Becker David A Bennett John Blangero Hans van Bokhoven Dorret I Boomsma Henry Brodaty Rachel M Brouwer Han G Brunner Randy L Buckner Jan K Buitelaar Kazima B Bulayeva Wiepke Cahn Vince D Calhoun Dara M Cannon Gianpiero L Cavalleri Ching-Yu Cheng Sven Cichon Mark R Cookson Aiden Corvin Benedicto Crespo-Facorro Joanne E Curran Michael Czisch Anders M Dale Gareth E Davies Anton J M De Craen Eco J C De Geus Philip L De Jager Greig I De Zubicaray Ian J Deary Stéphanie Debette Charles DeCarli Norman Delanty Chantal Depondt Anita DeStefano Allissa Dillman Srdjan Djurovic Gary Donohoe Wayne C Drevets Ravi Duggirala Thomas D Dyer Christian Enzinger Susanne Erk Thomas Espeseth Iryna O Fedko Guillén Fernández Luigi Ferrucci Simon E Fisher Debra A Fleischman Ian Ford Myriam Fornage Tatiana M Foroud Peter T Fox Clyde Francks Masaki Fukunaga J Raphael Gibbs David C Glahn Randy L Gollub Harald H H Göring Robert C Green Oliver Gruber Vilmundur Gudnason Sebastian Guelfi Asta K Håberg Narelle K Hansell John Hardy Catharina A Hartman Ryota Hashimoto Katrin Hegenscheid Andreas Heinz Stephanie Le Hellard Dena G Hernandez Dirk J Heslenfeld Beng-Choon Ho Pieter J Hoekstra Wolfgang Hoffmann Albert Hofman Florian Holsboer Georg Homuth Norbert Hosten Jouke-Jan Hottenga Matthew Huentelman Hilleke E Hulshoff Pol Masashi Ikeda Clifford R Jack Mark Jenkinson Robert Johnson Erik G Jönsson J Wouter Jukema René S Kahn Ryota Kanai Iwona Kloszewska David S Knopman Peter Kochunov John B Kwok Stephen M Lawrie Hervé Lemaître Xinmin Liu Dan L Longo Oscar L Lopez Simon Lovestone Oliver Martinez Jean-Luc Martinot Venkata S Mattay Colm McDonald Andrew M McIntosh Francis J McMahon Katie L McMahon Patrizia Mecocci Ingrid Melle Andreas Meyer-Lindenberg Sebastian Mohnke Grant W Montgomery Derek W Morris Thomas H Mosley Thomas W Mühleisen Bertram Müller-Myhsok Michael A Nalls Matthias Nauck Thomas E Nichols Wiro J Niessen Markus M Nöthen Lars Nyberg Kazutaka Ohi Rene L Olvera Roel A Ophoff Massimo Pandolfo Tomas Paus Zdenka Pausova Brenda W J H Penninx G Bruce Pike Steven G Potkin Bruce M Psaty Simone Reppermund Marcella Rietschel Joshua L Roffman Nina Romanczuk-Seiferth Jerome I Rotter Mina Ryten Ralph L Sacco Perminder S Sachdev Andrew J Saykin Reinhold Schmidt Helena Schmidt Peter R Schofield Sigurdur Sigursson Andrew Simmons Andrew Singleton Sanjay M Sisodiya Colin Smith Jordan W Smoller Hilkka Soininen Vidar M Steen David J Stott Jessika E Sussmann Anbupalam Thalamuthu Arthur W Toga Bryan J Traynor Juan Troncoso Magda Tsolaki Christophe Tzourio Andre G Uitterlinden Maria C Valdés Hernández Marcel Van der Brug Aad van der Lugt Nic J A van der Wee Neeltje E M Van Haren Dennis van 't Ent Marie-Jose Van Tol Badri N Vardarajan Bruno Vellas Dick J Veltman Henry Völzke Henrik Walter Joanna M Wardlaw Thomas H Wassink Michael E Weale Daniel R Weinberger Michael W Weiner Wei Wen Eric Westman Tonya White Tien Y Wong Clinton B Wright Ronald H Zielke Alan B Zonderman Nicholas G Martin Cornelia M Van Duijn Margaret J Wright W T Longstreth Gunter Schumann Hans J Grabe Barbara Franke Lenore J Launer Sarah E Medland Sudha Seshadri Paul M Thompson M Arfan Ikram

Nat Commun 2017 01 18;8:13624. Epub 2017 Jan 18.

Department of Epidemiology, Erasmus University Medical Center, 3015 CE Rotterdam, The Netherlands.

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January 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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January 2017

Novel genetic loci underlying human intracranial volume identified through genome-wide association.

Authors:
Hieab H H Adams Derrek P Hibar Vincent Chouraki Jason L Stein Paul A Nyquist Miguel E Rentería Stella Trompet Alejandro Arias-Vasquez Sudha Seshadri Sylvane Desrivières Ashley H Beecham Neda Jahanshad Katharina Wittfeld Sven J Van der Lee Lucija Abramovic Saud Alhusaini Najaf Amin Micael Andersson Konstantinos Arfanakis Benjamin S Aribisala Nicola J Armstrong Lavinia Athanasiu Tomas Axelsson Alexa Beiser Manon Bernard Joshua C Bis Laura M E Blanken Susan H Blanton Marc M Bohlken Marco P Boks Janita Bralten Adam M Brickman Owen Carmichael M Mallar Chakravarty Ganesh Chauhan Qiang Chen Christopher R K Ching Gabriel Cuellar-Partida Anouk Den Braber Nhat Trung Doan Stefan Ehrlich Irina Filippi Tian Ge Sudheer Giddaluru Aaron L Goldman Rebecca F Gottesman Corina U Greven Oliver Grimm Michael E Griswold Tulio Guadalupe Johanna Hass Unn K Haukvik Saima Hilal Edith Hofer David Hoehn Avram J Holmes Martine Hoogman Deborah Janowitz Tianye Jia Dalia Kasperaviciute Sungeun Kim Marieke Klein Bernd Kraemer Phil H Lee Jiemin Liao David C M Liewald Lorna M Lopez Michelle Luciano Christine Macare Andre Marquand Mar Matarin Karen A Mather Manuel Mattheisen Bernard Mazoyer David R McKay Rebekah McWhirter Yuri Milaneschi Nazanin Mirza-Schreiber Ryan L Muetzel Susana Muñoz Maniega Kwangsik Nho Allison C Nugent Loes M Olde Loohuis Jaap Oosterlaan Martina Papmeyer Irene Pappa Lukas Pirpamer Sara Pudas Benno Pütz Kumar B Rajan Adaikalavan Ramasamy Jennifer S Richards Shannon L Risacher Roberto Roiz-Santiañez Nanda Rommelse Emma J Rose Natalie A Royle Tatjana Rundek Philipp G Sämann Claudia L Satizabal Lianne Schmaal Andrew J Schork Li Shen Jean Shin Elena Shumskaya Albert V Smith Emma Sprooten Lachlan T Strike Alexander Teumer Russell Thomson Diana Tordesillas-Gutierrez Roberto Toro Daniah Trabzuni Dhananjay Vaidya Jeroen Van der Grond Dennis Van der Meer Marjolein M J Van Donkelaar Kristel R Van Eijk Theo G M Van Erp Daan Van Rooij Esther Walton Lars T Westlye Christopher D Whelan Beverly G Windham Anderson M Winkler Girma Woldehawariat Christiane Wolf Thomas Wolfers Bing Xu Lisa R Yanek Jingyun Yang Alex Zijdenbos Marcel P Zwiers Ingrid Agartz Neelum T Aggarwal Laura Almasy David Ames Philippe Amouyel Ole A Andreassen Sampath Arepalli Amelia A Assareh Sandra Barral Mark E Bastin Diane M Becker James T Becker David A Bennett John Blangero Hans van Bokhoven Dorret I Boomsma Henry Brodaty Rachel M Brouwer Han G Brunner Randy L Buckner Jan K Buitelaar Kazima B Bulayeva Wiepke Cahn Vince D Calhoun Dara M Cannon Gianpiero L Cavalleri Christopher Chen Ching-Yu Cheng Sven Cichon Mark R Cookson Aiden Corvin Benedicto Crespo-Facorro Joanne E Curran Michael Czisch Anders M Dale Gareth E Davies Eco J C De Geus Philip L De Jager Greig I de Zubicaray Norman Delanty Chantal Depondt Anita L DeStefano Allissa Dillman Srdjan Djurovic Gary Donohoe Wayne C Drevets Ravi Duggirala Thomas D Dyer Susanne Erk Thomas Espeseth Denis A Evans Iryna O Fedko Guillén Fernández Luigi Ferrucci Simon E Fisher Debra A Fleischman Ian Ford Tatiana M Foroud Peter T Fox Clyde Francks Masaki Fukunaga J Raphael Gibbs David C Glahn Randy L Gollub Harald H H Göring Hans J Grabe Robert C Green Oliver Gruber Vilmundur Gudnason Sebastian Guelfi Narelle K Hansell John Hardy Catharina A Hartman Ryota Hashimoto Katrin Hegenscheid Andreas Heinz Stephanie Le Hellard Dena G Hernandez Dirk J Heslenfeld Beng-Choon Ho Pieter J Hoekstra Wolfgang Hoffmann Albert Hofman Florian Holsboer Georg Homuth Norbert Hosten Jouke-Jan Hottenga Hilleke E Hulshoff Pol Masashi Ikeda M Kamran Ikram Clifford R Jack Mark Jenkinson Robert Johnson Erik G Jönsson J Wouter Jukema René S Kahn Ryota Kanai Iwona Kloszewska David S Knopman Peter Kochunov John B Kwok Stephen M Lawrie Hervé Lemaître Xinmin Liu Dan L Longo W T Longstreth Oscar L Lopez Simon Lovestone Oliver Martinez Jean-Luc Martinot Venkata S Mattay Colm McDonald Andrew M McIntosh Katie L McMahon Francis J McMahon Patrizia Mecocci Ingrid Melle Andreas Meyer-Lindenberg Sebastian Mohnke Grant W Montgomery Derek W Morris Thomas H Mosley Thomas W Mühleisen Bertram Müller-Myhsok Michael A Nalls Matthias Nauck Thomas E Nichols Wiro J Niessen Markus M Nöthen Lars Nyberg Kazutaka Ohi Rene L Olvera Roel A Ophoff Massimo Pandolfo Tomas Paus Zdenka Pausova Brenda W J H Penninx G Bruce Pike Steven G Potkin Bruce M Psaty Simone Reppermund Marcella Rietschel Joshua L Roffman Nina Romanczuk-Seiferth Jerome I Rotter Mina Ryten Ralph L Sacco Perminder S Sachdev Andrew J Saykin Reinhold Schmidt Peter R Schofield Sigurdur Sigurdsson Andy Simmons Andrew Singleton Sanjay M Sisodiya Colin Smith Jordan W Smoller Hilkka Soininen Velandai Srikanth Vidar M Steen David J Stott Jessika E Sussmann Anbupalam Thalamuthu Henning Tiemeier Arthur W Toga Bryan J Traynor Juan Troncoso Jessica A Turner Christophe Tzourio Andre G Uitterlinden Maria C Valdés Hernández Marcel Van der Brug Aad Van der Lugt Nic J A Van der Wee Cornelia M Van Duijn Neeltje E M Van Haren Dennis Van T Ent Marie-Jose Van Tol Badri N Vardarajan Dick J Veltman Meike W Vernooij Henry Völzke Henrik Walter Joanna M Wardlaw Thomas H Wassink Michael E Weale Daniel R Weinberger Michael W Weiner Wei Wen Eric Westman Tonya White Tien Y Wong Clinton B Wright H Ronald Zielke Alan B Zonderman Ian J Deary Charles DeCarli Helena Schmidt Nicholas G Martin Anton J M De Craen Margaret J Wright Lenore J Launer Gunter Schumann Myriam Fornage Barbara Franke Stéphanie Debette Sarah E Medland M Arfan Ikram Paul M Thompson

Nat Neurosci 2016 12 3;19(12):1569-1582. Epub 2016 Oct 3.

Imaging Genetics Center, USC Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine of University of Southern California, Los Angeles, California, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5227112PMC
December 2016

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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September 2016

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

Hum Mol Genet 2016 Feb 8;25(3):546-57. Epub 2015 Dec 8.

Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen 6525 XD, The Netherlands, Donders Institute for Brain, Cognition and Behaviour, Nijmegen 6525 EN, The Netherlands

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February 2016

Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.

Eur Heart J 2016 06 24;37(23):1815-22. Epub 2015 Oct 24.

Department of Clinical Genetics, Unit Clinical Genomics, Maastricht University Medical Centre, P.O. Box 5800, 6229 GR Maastricht, The Netherlands School for Cardiovascular Diseases, Maastricht University Medical Centre, Maastricht, The Netherlands.

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June 2016

Meier-Gorlin syndrome.

Orphanet J Rare Dis 2015 Sep 17;10:114. Epub 2015 Sep 17.

Department of Human Genetics 836, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574002PMC
September 2015

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing.

Genom Data 2014 Dec;2:144-146

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen 6500 HB, The Netherlands.

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December 2014

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

Am J Hum Genet 2015 Apr 26;96(4):623-30. Epub 2015 Mar 26.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385193PMC
April 2015

Absence of heterozygosity due to template switching during replicative rearrangements.

Am J Hum Genet 2015 Apr 19;96(4):555-64. Epub 2015 Mar 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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April 2015

Common genetic variants influence human subcortical brain structures.

Authors:
Derrek P Hibar Jason L Stein Miguel E Renteria Alejandro Arias-Vasquez Sylvane Desrivières Neda Jahanshad Roberto Toro Katharina Wittfeld Lucija Abramovic Micael Andersson Benjamin S Aribisala Nicola J Armstrong Manon Bernard Marc M Bohlken Marco P Boks Janita Bralten Andrew A Brown M Mallar Chakravarty Qiang Chen Christopher R K Ching Gabriel Cuellar-Partida Anouk den Braber Sudheer Giddaluru Aaron L Goldman Oliver Grimm Tulio Guadalupe Johanna Hass Girma Woldehawariat Avram J Holmes Martine Hoogman Deborah Janowitz Tianye Jia Sungeun Kim Marieke Klein Bernd Kraemer Phil H Lee Loes M Olde Loohuis Michelle Luciano Christine Macare Karen A Mather Manuel Mattheisen Yuri Milaneschi Kwangsik Nho Martina Papmeyer Adaikalavan Ramasamy Shannon L Risacher Roberto Roiz-Santiañez Emma J Rose Alireza Salami Philipp G Sämann Lianne Schmaal Andrew J Schork Jean Shin Lachlan T Strike Alexander Teumer Marjolein M J van Donkelaar Kristel R van Eijk Raymond K Walters Lars T Westlye Christopher D Whelan Anderson M Winkler Marcel P Zwiers Saud Alhusaini Lavinia Athanasiu Stefan Ehrlich Marina M H Hakobjan Cecilie B Hartberg Unn K Haukvik Angelien J G A M Heister David Hoehn Dalia Kasperaviciute David C M Liewald Lorna M Lopez Remco R R Makkinje Mar Matarin Marlies A M Naber D Reese McKay Margaret Needham Allison C Nugent Benno Pütz Natalie A Royle Li Shen Emma Sprooten Daniah Trabzuni Saskia S L van der Marel Kimm J E van Hulzen Esther Walton Christiane Wolf Laura Almasy David Ames Sampath Arepalli Amelia A Assareh Mark E Bastin Henry Brodaty Kazima B Bulayeva Melanie A Carless Sven Cichon Aiden Corvin Joanne E Curran Michael Czisch Greig I de Zubicaray Allissa Dillman Ravi Duggirala Thomas D Dyer Susanne Erk Iryna O Fedko Luigi Ferrucci Tatiana M Foroud Peter T Fox Masaki Fukunaga J Raphael Gibbs Harald H H Göring Robert C Green Sebastian Guelfi Narelle K Hansell Catharina A Hartman Katrin Hegenscheid Andreas Heinz Dena G Hernandez Dirk J Heslenfeld Pieter J Hoekstra Florian Holsboer Georg Homuth Jouke-Jan Hottenga Masashi Ikeda Clifford R Jack Mark Jenkinson Robert Johnson Ryota Kanai Maria Keil Jack W Kent Peter Kochunov John B Kwok Stephen M Lawrie Xinmin Liu Dan L Longo Katie L McMahon Eva Meisenzahl Ingrid Melle Sebastian Mohnke Grant W Montgomery Jeanette C Mostert Thomas W Mühleisen Michael A Nalls Thomas E Nichols Lars G Nilsson Markus M Nöthen Kazutaka Ohi Rene L Olvera Rocio Perez-Iglesias G Bruce Pike Steven G Potkin Ivar Reinvang Simone Reppermund Marcella Rietschel Nina Romanczuk-Seiferth Glenn D Rosen Dan Rujescu Knut Schnell Peter R Schofield Colin Smith Vidar M Steen Jessika E Sussmann Anbupalam Thalamuthu Arthur W Toga Bryan J Traynor Juan Troncoso Jessica A Turner Maria C Valdés Hernández Dennis van 't Ent Marcel van der Brug Nic J A van der Wee Marie-Jose van Tol Dick J Veltman Thomas H Wassink Eric Westman Ronald H Zielke Alan B Zonderman David G Ashbrook Reinmar Hager Lu Lu Francis J McMahon Derek W Morris Robert W Williams Han G Brunner Randy L Buckner Jan K Buitelaar Wiepke Cahn Vince D Calhoun Gianpiero L Cavalleri Benedicto Crespo-Facorro Anders M Dale Gareth E Davies Norman Delanty Chantal Depondt Srdjan Djurovic Wayne C Drevets Thomas Espeseth Randy L Gollub Beng-Choon Ho Wolfgang Hoffmann Norbert Hosten René S Kahn Stephanie Le Hellard Andreas Meyer-Lindenberg Bertram Müller-Myhsok Matthias Nauck Lars Nyberg Massimo Pandolfo Brenda W J H Penninx Joshua L Roffman Sanjay M Sisodiya Jordan W Smoller Hans van Bokhoven Neeltje E M van Haren Henry Völzke Henrik Walter Michael W Weiner Wei Wen Tonya White Ingrid Agartz Ole A Andreassen John Blangero Dorret I Boomsma Rachel M Brouwer Dara M Cannon Mark R Cookson Eco J C de Geus Ian J Deary Gary Donohoe Guillén Fernández Simon E Fisher Clyde Francks David C Glahn Hans J Grabe Oliver Gruber John Hardy Ryota Hashimoto Hilleke E Hulshoff Pol Erik G Jönsson Iwona Kloszewska Simon Lovestone Venkata S Mattay Patrizia Mecocci Colm McDonald Andrew M McIntosh Roel A Ophoff Tomas Paus Zdenka Pausova Mina Ryten Perminder S Sachdev Andrew J Saykin Andy Simmons Andrew Singleton Hilkka Soininen Joanna M Wardlaw Michael E Weale Daniel R Weinberger Hieab H H Adams Lenore J Launer Stephan Seiler Reinhold Schmidt Ganesh Chauhan Claudia L Satizabal James T Becker Lisa Yanek Sven J van der Lee Maritza Ebling Bruce Fischl W T Longstreth Douglas Greve Helena Schmidt Paul Nyquist Louis N Vinke Cornelia M van Duijn Luting Xue Bernard Mazoyer Joshua C Bis Vilmundur Gudnason Sudha Seshadri M Arfan Ikram Nicholas G Martin Margaret J Wright Gunter Schumann Barbara Franke Paul M Thompson Sarah E Medland

Nature 2015 Apr 21;520(7546):224-9. Epub 2015 Jan 21.

QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia.

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April 2015

Parental subfertility, fertility treatment, and the risk of congenital anorectal malformations.

Epidemiology 2015 Mar;26(2):169-76

From the aDepartment for Health Evidence, Radboud university medical center, Nijmegen, The Netherlands; bDepartment of Pediatric Surgery, Radboud university medical center, Nijmegen, The Netherlands; cDepartment of Surgery, Division of Pediatric Surgery, university medical center Groningen, Groningen, The Netherlands; dDepartment of Pediatric Surgery, Sophia Children's Hospital-Erasmus Medical Centre, Rotterdam, The Netherlands; eDepartment of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands; and fDepartment of Pediatrics, Radboud university medical center, Nijmegen, The Netherlands.

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March 2015

Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review.

Birth Defects Res C Embryo Today 2014 Dec;102(4):382-400

Department for Health Evidence, Radboud university medical center, Nijmegen, The Netherlands.

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December 2014

Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias.

Eur J Pediatr 2015 May 17;174(5):583-7. Epub 2014 Oct 17.

Department for Health Evidence (133), Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands,

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May 2015

Easy-to-use decision aids for improved cancer family history collection and use among oncology practices.

J Clin Oncol 2014 Oct 2;32(29):3343. Epub 2014 Sep 2.

Radboud University Medical Center, Nijmegen, the Netherlands

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October 2014

Genome sequencing identifies major causes of severe intellectual disability.

Nature 2014 Jul 4;511(7509):344-7. Epub 2014 Jun 4.

1] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2] Department of Clinical Genetics, Maastricht University Medical Centre. Universiteitssingel 50, 6229 ER Maastricht, the Netherlands [3].

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July 2014