Han Brunner

Han Brunner

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Han Brunner

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

Hum Mutat 2019 Sep 9. Epub 2019 Sep 9.

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
September 2019

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

Am J Hum Genet 2019 May 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 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

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

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

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

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

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.

Am J Hum Genet 2018 12 21;103(6):995-1008. Epub 2018 Nov 21.

Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL Nijmegen, the Netherlands; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79112 Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.10.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288205PMC
December 2018

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

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

Pathogenesis of Idiopathic Ventral Herniation of Spinal Cord: Neuropathologic Analysis.

World Neurosurg 2018 Jun 10;114:30-33. Epub 2018 Mar 10.

Department of Neurosurgery, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.wneu.2018.02.187DOI Listing
June 2018

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

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

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

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

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

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

The annual meeting 1988-2017.

Authors:
Han Brunner

Eur J Hum Genet 2017 12;25(s2):S35-S36

Maastricht UMC+ Clinical Genetics, PO Box 5800, AZ 6202, Maastricht.

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http://dx.doi.org/10.1038/ejhg.2017.150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763258PMC
December 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

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

The Pathogenesis of Ventral Idiopathic Herniation of the Spinal Cord: A Hypothesis Based on the Review of the Literature.

Front Neurol 2017 11;8:476. Epub 2017 Sep 11.

Department of Neurosurgery, Radboud University Medical Center, Nijmegen, Netherlands.

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http://dx.doi.org/10.3389/fneur.2017.00476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5601982PMC
September 2017

Structural asymmetries of the human cerebellum in relation to cerebral cortical asymmetries and handedness.

Brain Struct Funct 2017 May 26;222(4):1611-1623. Epub 2016 Aug 26.

Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00429-016-1295-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5326706PMC
May 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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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 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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http://dx.doi.org/10.1038/ncomms13624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5253632PMC
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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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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 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

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

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

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

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

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

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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385179PMC
April 2015

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

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

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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526866PMC
December 2014

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