Hans van Bokhoven

Hans van Bokhoven

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Hans van Bokhoven

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Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia.

Genet Med 2019 Aug 4;21(8):1790-1796. Epub 2019 Jan 4.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1038/s41436-018-0415-8DOI Listing
August 2019

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.

Am J Hum Genet 2019 Aug 25;105(2):395-402. Epub 2019 Jul 25.

Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2019.06.009DOI Listing
August 2019

A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient.

Mol Genet Genomic Med 2019 Aug 15:e861. Epub 2019 Aug 15.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.861DOI Listing
August 2019

Mutant p63 Affects Epidermal Cell Identity through Rewiring the Enhancer Landscape.

Cell Rep 2018 Dec;25(12):3490-3503.e4

Department of Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22111247183180
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http://dx.doi.org/10.1016/j.celrep.2018.11.039DOI Listing
December 2018

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Am J Hum Genet 2018 07 28;103(1):144-153. Epub 2018 Jun 28.

NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037130PMC
July 2018

Sleep Disturbance as a Precursor of Severe Regression in Kleefstra Syndrome Suggests a Need for Firm and Rapid Pharmacological Treatment.

Clin Neuropharmacol 2017 Jul/Aug;40(4):185-188

*Karakter Child and Adolescent Psychiatry, University Center, †Department of Psychiatry, ‡Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition, and Behavior, and §Department of Human Genetics, Radboud University Medical Centre; ∥Centers for Molecular Life Sciences and ¶Cognition, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen; #Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray; and **Behavioral Science Institute, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/WNF.0000000000000226DOI Listing
April 2018

Transcriptome Analysis Identifies Multifaceted Regulatory Mechanisms Dictating a Genetic Switch from Neuronal Network Establishment to Maintenance During Postnatal Prefrontal Cortex Development.

Cereb Cortex 2018 03;28(3):833-851

Department of Human Genetics, Centre for Neuroscience, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/cercor/bhw407DOI Listing
March 2018

Inhibitory control of the excitatory/inhibitory balance in psychiatric disorders.

F1000Res 2018 8;7:23. Epub 2018 Jan 8.

Department of Human Genetics & Department of Cognitive Neuroscience, Radboudumc, Geert Grooteplein 10, Box 9101, 6500 HB Nijmegen, Netherlands.

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http://dx.doi.org/10.12688/f1000research.12155.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760969PMC
January 2018

Integrated transcriptional analysis unveils the dynamics of cellular differentiation in the developing mouse hippocampus.

Sci Rep 2017 12 22;7(1):18073. Epub 2017 Dec 22.

Radboud University, Department of Molecular Biology, Faculty of Science, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41598-017-18287-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5741714PMC
December 2017

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Am J Hum Genet 2017 Sep 17;101(3):428-440. Epub 2017 Aug 17.

Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67400 Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France; Université de Strasbourg, 67400 Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173028
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http://dx.doi.org/10.1016/j.ajhg.2017.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590842PMC
September 2017

MicroRNA-338 Attenuates Cortical Neuronal Outgrowth by Modulating the Expression of Axon Guidance Genes.

Mol Neurobiol 2017 07 14;54(5):3439-3452. Epub 2016 May 14.

Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, 6525 AJ, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s12035-016-9925-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5658782PMC
July 2017

Altered expression of circadian rhythm and extracellular matrix genes in the medial prefrontal cortex of a valproic acid rat model of autism.

Prog Neuropsychopharmacol Biol Psychiatry 2017 07 10;77:128-132. Epub 2017 Apr 10.

Laboratory of Molecular Biology, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S02785846163048
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http://dx.doi.org/10.1016/j.pnpbp.2017.04.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502527PMC
July 2017

MicroRNA-338 modulates cortical neuronal placement and polarity.

RNA Biol 2017 07 11;14(7):905-913. Epub 2017 May 11.

e Laboratory of Molecular Biology, National Institute of Mental Health , National Institutes of Health , Bethesda , MD , USA.

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http://dx.doi.org/10.1080/15476286.2017.1325067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5546544PMC
July 2017

The Context of Symptom Measures: Interpretation and Clinical Diagnosis of Autism Spectrum Disorders in Intellectual Disabilities.

J Am Acad Child Adolesc Psychiatry 2017 07 21;56(7):618-619. Epub 2017 Jun 21.

Karakter Child and Adolescent Psychiatry, University Centre, Nijmegen, The Netherlands; the Donders Institute for Brain, Cognition and Behavior; Centre for Neuroscience, Nijmegen; and Radboud University Medical Center, Nijmegen.

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http://dx.doi.org/10.1016/j.jaac.2017.05.009DOI Listing
July 2017

Drosophila Courtship Conditioning As a Measure of Learning and Memory.

J Vis Exp 2017 06 5(124). Epub 2017 Jun 5.

Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, Western University; Department of Biology, Faculty of Science, Western University;

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http://dx.doi.org/10.3791/55808DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5608251PMC
June 2017

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

Gene 2017 Mar 16;605:92-98. Epub 2016 Dec 16.

Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2016.12.013DOI Listing
March 2017

The schizophrenia risk gene MIR137 acts as a hippocampal gene network node orchestrating the expression of genes relevant to nervous system development and function.

Prog Neuropsychopharmacol Biol Psychiatry 2017 02 27;73:109-118. Epub 2016 Feb 27.

Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, 6525 AJ Nijmegen, The Netherlands; Laboratory of Molecular Biology, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.pnpbp.2016.02.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002268PMC
February 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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http://dx.doi.org/10.1038/nn.4398DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5227112PMC
December 2016

Perinatal reduction of functional serotonin transporters results in developmental delay.

Neuropharmacology 2016 10 18;109:96-111. Epub 2016 May 18.

Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, Department of Cognitive Neuroscience, Radboud University Medical Center, 6525 EZ Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.neuropharm.2016.05.012DOI Listing
October 2016

MicroRNA-181 promotes synaptogenesis and attenuates axonal outgrowth in cortical neurons.

Cell Mol Life Sci 2016 09 26;73(18):3555-67. Epub 2016 Mar 26.

Department of Cognitive Neuroscience, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00018-016-2179-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4982812PMC
September 2016

Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene.

Fetal Pediatr Pathol 2015 16;34(6):400-6. Epub 2015 Oct 16.

c Sackler Faculty of Medicine, Tel-Aviv University , Tel-Aviv , Israel.

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http://www.tandfonline.com/doi/full/10.3109/15513815.2015.10
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http://dx.doi.org/10.3109/15513815.2015.1095261DOI Listing
August 2016

Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling.

Neuron 2016 07 30;91(2):341-55. Epub 2016 Jun 30.

Department of Cognitive Neuroscience, Radboudumc, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, 6525 AJ Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2016.06.003DOI Listing
July 2016

Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.

Chem Biol 2015 Dec 10;22(12):1643-52. Epub 2015 Dec 10.

Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.chembiol.2015.10.014DOI Listing
December 2015

The role of chromatin repressive marks in cognition and disease: A focus on the repressive complex GLP/G9a.

Neurobiol Learn Mem 2015 Oct 2;124:88-96. Epub 2015 Jul 2.

Department of Cognitive Neuroscience, Radboudumc, 6500 HB Nijmegen, The Netherlands; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, The Netherlands; Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, 6525 AJ Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.nlm.2015.06.013DOI Listing
October 2015

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.

Genet Res (Camb) 2015 Oct 6;97:e19. Epub 2015 Oct 6.

Department of Human Genetics,Radboud Institute for Molecular Life Sciences,Radboud University Medical Center,Nijmegen,the Netherlands.

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http://search.proquest.com/openview/8ede737de502b58a849f6a74
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http://www.journals.cambridge.org/abstract_S001667231500021X
Publisher Site
http://dx.doi.org/10.1017/S001667231500021XDOI Listing
October 2015

Exome sequencing identifies three novel candidate genes implicated in intellectual disability.

PLoS One 2014 18;9(11):e112687. Epub 2014 Nov 18.

Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan; Department of Biochemistry, Al-Nafees Medical College & Hospital, Isra University, Islamabad, Pakistan.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0112687PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236113PMC
July 2015

Transcription factor p63 bookmarks and regulates dynamic enhancers during epidermal differentiation.

EMBO Rep 2015 Jul 1;16(7):863-78. Epub 2015 Jun 1.

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands Department of Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences Radboud University, Nijmegen, The Netherlands

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http://dx.doi.org/10.15252/embr.201439941DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515125PMC
July 2015

Gene regulatory mechanisms orchestrated by p63 in epithelial development and related disorders.

Biochim Biophys Acta 2015 Jun 19;1849(6):590-600. Epub 2015 Mar 19.

Radboud University, Department of Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands; Radboud university medical center, Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbagrm.2015.03.003DOI Listing
June 2015

MicroRNA-137 Controls AMPA-Receptor-Mediated Transmission and mGluR-Dependent LTD.

Cell Rep 2015 Jun 18;11(12):1876-84. Epub 2015 Jun 18.

Department of Neuroinformatics, Radboud University Nijmegen, 6525 HP Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, 6525 AJ Nijmegen, the Netherlands. Electronic address:

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June 2015

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

Neurology 2015 May 1;84(21):2177-82. Epub 2015 May 1.

From the Department of Neurology (M.R., D.J.L., M.A.W.), Translational Metabolic Laboratory, Department of Laboratory Medicine (M.R., D.J.L., R.A.W.), Department of Human Genetics, Radboud Institute for Molecular Life Sciences (M.R., E.v.B., T.R., L.E.V., H.v.B.), and Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour (H.v.B.), Radboud University Medical Center, Nijmegen, the Netherlands; Metabolic Unit, Department of Pediatrics (H.M.), and Institute of Human Genetics (R.G.-B.), Rambam Health Care Campus, and the Rappaport Faculty of Medicine, Techion-Israel Institute of Technology, Haifa; Department of Human Genetics (I.G.), Leiden University Medical Center, the Netherlands; Department of Medical Genetics (T.R.), Sydney Children's Hospital, University of New South Wales, Sydney, Australia; Department of Diagnostic Imaging (A.E.), Rambam Health Care Campus, Haifa; and Department of Molecular Genetics (M.G., S.P.), Weizmann Institute of Science, Rehovot, Israel.

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May 2015

Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid.

Hum Mol Genet 2015 Apr 30;24(8):2241-6. Epub 2014 Dec 30.

Department of Neurology, Translational Metabolic Laboratory, Department of Laboratory Medicine,

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http://dx.doi.org/10.1093/hmg/ddu742DOI Listing
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

Identifying genes responsible for intellectual disability in consanguineous families.

Hum Hered 2014 29;77(1-4):150-60. Epub 2014 Jul 29.

Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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March 2015

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.

Am J Hum Genet 2015 Mar 19;96(3):386-96. Epub 2015 Feb 19.

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen 6500 HB, the Netherlands; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition, and Behavior, Radboud university medical center, Nijmegen 6500 HB, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375531PMC
March 2015

Asymmetry within and around the human planum temporale is sexually dimorphic and influenced by genes involved in steroid hormone receptor activity.

Cortex 2015 Jan 7;62:41-55. Epub 2014 Aug 7.

Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition & Behavior, Radboud University Nijmegen, Nijmegen, The Netherlands. Electronic address:

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January 2015

A mutation in TP63 causing a mild ectodermal dysplasia phenotype.

J Invest Dermatol 2014 Aug 27;134(8):2277-2280. Epub 2014 Mar 27.

Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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August 2014

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

J Med Genet 2014 Jul 8;51(7):487-94. Epub 2014 May 8.

Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Diseases, Radboud university medical center, Nijmegen, The Netherlands.

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July 2014

The genetics of cognitive epigenetics.

Neuropharmacology 2014 May 13;80:83-94. Epub 2014 Jan 13.

Radboud University Medical Center, Department of Human Genetics, Nijmegen Center for Molecular Life Sciences (NCMLS), Nijmegen, The Netherlands; Radboud University Medical Center, Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.neuropharm.2013.12.025DOI Listing
May 2014

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

Eur J Hum Genet 2014 Apr 31;22(4):480-5. Epub 2013 Jul 31.

1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [2] Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [3] Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2013.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953899PMC
April 2014

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.

Eur J Med Genet 2014 Apr 22;57(5):200-6. Epub 2014 Jan 22.

Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen, France. Electronic address:

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April 2014

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

Gene 2014 Mar 16;538(1):30-5. Epub 2014 Jan 16.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands; Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2014.01.027DOI Listing
March 2014

Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice.

Dev Biol 2014 Feb 19;386(2):395-407. Epub 2013 Dec 19.

Department of Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ydbio.2013.12.016DOI Listing
February 2014

Mutations in CSPP1 lead to classical Joubert syndrome.

Am J Hum Genet 2014 Jan 19;94(1):80-6. Epub 2013 Dec 19.

Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882909PMC
January 2014

Genomic approaches for studying craniofacial disorders.

Am J Med Genet C Semin Med Genet 2013 Nov 18;163C(4):218-31. Epub 2013 Oct 18.

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November 2013

Human intellectual disability genes form conserved functional modules in Drosophila.

PLoS Genet 2013 Oct 31;9(10):e1003911. Epub 2013 Oct 31.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3814316PMC
October 2013

A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family.

Gene 2013 Apr 9;519(1):177-81. Epub 2013 Feb 9.

Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan.

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http://dx.doi.org/10.1016/j.gene.2013.01.047DOI Listing
April 2013

Role of p63 and the Notch pathway in cochlea development and sensorineural deafness.

Proc Natl Acad Sci U S A 2013 Apr 15;110(18):7300-5. Epub 2013 Apr 15.

Biochemistry Laboratory Istituto Dermopatico Dell'Immacolata, c/o Department of Experimental Medicine and Surgery, University of Rome Tor Vergata, 00133 Rome, Italy.

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http://dx.doi.org/10.1073/pnas.1214498110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3645580PMC
April 2013

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

Am J Hum Genet 2012 Dec 15;91(6):1122-7. Epub 2012 Nov 15.

Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3516611PMC
December 2012