H
Hans van Bokhoven
Researcher at Radboud University Nijmegen
Publications - 271
Citations - 20783
Hans van Bokhoven is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Gene & Exome sequencing. The author has an hindex of 73, co-authored 258 publications receiving 18387 citations. Previous affiliations of Hans van Bokhoven include Radboud University Nijmegen Medical Centre & Life Sciences Institute.
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Journal ArticleDOI
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
Yanick J. Crow,Yanick J. Crow,Bruce E. Hayward,Rekha Parmar,Peter Robins,Andrea Leitch,Manir Ali,Deborah N. Black,Hans van Bokhoven,Han G. Brunner,Ben C.J. Hamel,Peter Corry,Frances M. Cowan,S Frints,Joerg Klepper,John H. Livingston,Sally Ann Lynch,Roger F. Massey,Jean François Meritet,Jacques L. Michaud,Gérard Ponsot,Thomas Voit,Pierre Lebon,David T. Bonthron,Andrew P. Jackson,Deborah E. Barnes,Tomas Lindahl +26 more
TL;DR: TREX1, encoding the major mammalian 3′ → 5′ DNA exonuclease, is the AGS1 gene, and AGS-causing mutations result in abrogation of TREX1 enzyme activity, and failure of which results in the triggering of an abnormal innate immune response.
Journal ArticleDOI
Common genetic variants influence human subcortical brain structures.
Derrek P. Hibar,Jason L. Stein,Jason L. Stein,Miguel E. Rentería,Alejandro Arias-Vasquez,Sylvane Desrivières,Neda Jahanshad,Roberto Toro,Roberto Toro,Katharina Wittfeld,Katharina Wittfeld,Lucija Abramovic,Micael Andersson,Benjamin S. Aribisala,Benjamin S. Aribisala,Nicola J. Armstrong,Nicola J. Armstrong,Manon Bernard,Marc M. Bohlken,Marco P. Boks,Janita Bralten,Andrew A. Brown,M. Mallar Chakravarty,M. Mallar Chakravarty,Qiang Chen,Christopher R.K. Ching,Christopher R.K. Ching,Gabriel Cuellar-Partida,Anouk den Braber,Sudheer Giddaluru,Aaron Goldman,Oliver Grimm,Tulio Guadalupe,Johanna Hass,Girma Woldehawariat,Avram J. Holmes,Avram J. Holmes,Martine Hoogman,Deborah Janowitz,Tianye Jia,Sungeun Kim,Marieke Klein,Bernd Kraemer,Phil Lee,Phil Lee,Loes M. Olde Loohuis,Michelle Luciano,Christine Macare,Karen A. Mather,Manuel Mattheisen,Manuel Mattheisen,Yuri Milaneschi,Kwangsik Nho,Martina Papmeyer,Adaikalavan Ramasamy,Adaikalavan Ramasamy,Shannon L. Risacher,Roberto Roiz-Santiañez,Emma J. Rose,Alireza Salami,Alireza Salami,Philipp G. Sämann,Lianne Schmaal,Andrew J. Schork,Jean Shin,Lachlan T. Strike,Lachlan T. Strike,Alexander Teumer,Marjolein M.J. van Donkelaar,Kristel R. van Eijk,Raymond K. Walters,Raymond K. Walters,Lars T. Westlye,Christopher D. Whelan,Anderson M. Winkler,Anderson M. Winkler,Marcel P. Zwiers,Saud Alhusaini,Saud Alhusaini,Lavinia Athanasiu,Stefan Ehrlich,Stefan Ehrlich,Marina Hakobjan,Cecilie B. Hartberg,Unn K. Haukvik,Angelien Heister,D. Hoehn,Dalia Kasperaviciute,Dalia Kasperaviciute,David C. Liewald,Lorna M. Lopez,Remco R. R. Makkinje,Mar Matarin,Marlies Naber,D. Reese McKay,Margaret Needham,Allison C. Nugent,Benno Pütz,Natalie A. Royle,Li Shen,Emma Sprooten,Emma Sprooten,Daniah Trabzuni,Daniah Trabzuni,Saskia S. L. van der Marel,Kimm J. E. van Hulzen,Esther Walton,Christiane Wolf,Laura Almasy,Laura Almasy,David Ames,David Ames,Sampath Arepalli,Amelia A. Assareh,Mark E. Bastin,Henry Brodaty,Kazima B. Bulayeva,Melanie A. Carless,Sven Cichon,Sven Cichon,Aiden Corvin,Joanne E. Curran,Michael Czisch,Greig I. de Zubicaray,Allissa Dillman,Ravi Duggirala,Thomas D. Dyer,Thomas D. Dyer,Susanne Erk,Iryna O. Fedko,Luigi Ferrucci,Tatiana Foroud,Peter T. Fox,Peter T. Fox,Masaki Fukunaga,J. Raphael Gibbs,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,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,Ryota Kanai,Maria Keil,Jack W. Kent,Peter Kochunov,John B.J. Kwok,John B.J. Kwok,Stephen M. Lawrie,Xinmin Liu,Xinmin Liu,Dan L. Longo,Katie L. McMahon,Eva M. Meisenzahl,Ingrid Melle,Sebastian Mohnke,Grant W. Montgomery,Jeanette C. Mostert,Thomas W. Mühleisen,Mike A. Nalls,Thomas E. Nichols,Thomas E. Nichols,Lars Nilsson,Markus M. Nöthen,Kazutaka Ohi,Rene L. Olvera,Rocío Pérez-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,Peter R. Schofield,Colin Smith,Vidar M. Steen,Jessika E. Sussmann,Anbupalam Thalamuthu,Arthur W. Toga,Bryan J. Traynor,Juan C. Troncoso,Jessica A. Turner,Maria C. Valdés Hernández,Dennis van 't Ent,Marcel P. van der Brug,Nic J.A. van der Wee,Marie-José van Tol,Dick J. Veltman,Thomas H. Wassink,Eric Westman,Ronald H. Zielke,Alan B. Zonderman,David G. Ashbrook,Reinmar Hager,Lu Lu,Lu Lu,Francis J. McMahon,Derek W. Morris,Derek W. Morris,Robert W. Williams,Han G. Brunner,Han G. Brunner,Randy L. Buckner,Jan K. Buitelaar,Wiepke Cahn,Vince D. Calhoun,Vince D. Calhoun,Gianpiero L. Cavalleri,Benedicto Crespo-Facorro,Anders M. Dale,Gareth E. Davies,Norman Delanty,Norman Delanty,Chantal Depondt,Srdjan Djurovic,Wayne C. Drevets,Wayne C. Drevets,Thomas Espeseth,Randy L. Gollub,Beng-Choon Ho,Wolfgang Hoffmann,Wolfgang Hoffmann,Norbert Hosten,René S. Kahn,Stephanie Le Hellard,Andreas Meyer-Lindenberg,Bertram Müller-Myhsok,Bertram Müller-Myhsok,Matthias Nauck,Lars Nyberg,Massimo Pandolfo,Brenda W.J.H. Penninx,Joshua L. Roffman,Sanjay M. Sisodiya,Jordan W. Smoller,Jordan W. Smoller,Hans van Bokhoven,Neeltje E.M. van Haren,Henry Völzke,Henrik Walter,Michael W. Weiner,Wei Wen,Tonya White,Ingrid Agartz,Ingrid Agartz,Ole A. Andreassen,John Blangero,John Blangero,Dorret I. Boomsma,Rachel M. Brouwer,Dara M. Cannon,Dara M. Cannon,Mark R. Cookson,Eco J. C. de Geus,Ian J. Deary,Gary Donohoe,Gary Donohoe,Guillén Fernández,Simon E. Fisher,Simon E. Fisher,Clyde Francks,Clyde Francks,David C. Glahn,Hans J. Grabe,Oliver Gruber,Oliver Gruber,John Hardy,Ryota Hashimoto,Hilleke E. Hulshoff Pol,Erik G. Jönsson,Erik G. Jönsson,Iwona Kłoszewska,Simon Lovestone,Simon Lovestone,Venkata S. Mattay,Patrizia Mecocci,Colm McDonald,Andrew M. McIntosh,Roel A. Ophoff,Roel A. Ophoff,Tomáš Paus,Zdenka Pausova,Mina Ryten,Mina Ryten,Perminder S. Sachdev,Andrew J. Saykin,Andrew J. Saykin,Andrew Simmons,Andrew B. 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,Claudia L. Satizabal,James T. Becker,Lisa R. Yanek,Sven J. van der Lee,Maritza Ebling,Bruce Fischl,Bruce Fischl,W. T. Longstreth,Douglas N. Greve,Helena Schmidt,Paul A. Nyquist,Louis N. Vinke,Cornelia M. van Duijn,Luting Xue,Bernard Mazoyer,Joshua C. Bis,Vilmundur Gudnason,Sudha Seshadri,Sudha Seshadri,M. Arfan Ikram,Nicholas G. Martin,Margaret J. Wright,Margaret J. Wright,Gunter Schumann,Barbara Franke,Barbara Franke,Paul M. Thompson,Sarah E. Medland +344 more
TL;DR: In this paper, the authors conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts.
Journal ArticleDOI
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
Jacopo Celli,Pascal H.G. Duijf,Ben C.J. Hamel,Michael J. Bamshad,Bridget Kramer,Arie P. T. Smits,Ruth Newbury-Ecob,Raoul C.M. Hennekam,Griet Van Buggenhout,Arie van Haeringen,C. Geoffrey Woods,Anthonie J. van Essen,Robert M.W. de Waal,Gert Vriend,Daniel A. Haber,Annie Yang,Frank McKeon,Han G. Brunner,Hans van Bokhoven +18 more
TL;DR: Analysis of the p63 gene, a homolog of p53 located in the critical LMS/EEC interval, revealed heterozygous mutations in nine unrelated EEC families that provide a molecular explanation for the dominant character of p63 mutations in EEC syndrome.
Journal ArticleDOI
Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
Daniel Beltrán-Valero de Bernabé,Sophie Currier,Alice Steinbrecher,Jacopo Celli,Ellen van Beusekom,Bert van der Zwaag,Hülya Kayserili,Luciano Merlini,David Chitayat,William B. Dobyns,Bru Cormand,Ana Elina Lehesjoki,Jesús Cruces,Thomas Voit,Christopher A. Walsh,Hans van Bokhoven,Han G. Brunner +16 more
TL;DR: Immunohistochemical analysis of muscle from patients with POMT1 mutations corroborated the O-mannosylation defect, as judged by the absence of glycosylation of alpha-dystroglycan.
Journal ArticleDOI
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Patrick S. Tarpey,Raffaella Smith,Erin Pleasance,Annabel Whibley,Sarah Edkins,Claire Hardy,Sarah O’Meara,Calli Latimer,Ed Dicks,Andrew Menzies,Phil Stephens,Matt Blow,Christopher Greenman,Yali Xue,Chris Tyler-Smith,Deborah J. Thompson,Kristian Gray,Jenny Andrews,Syd Barthorpe,Gemma Buck,Jennifer Cole,Rebecca Dunmore,David T. Jones,Mark Maddison,Tatiana Mironenko,Rachel Turner,Kelly Turrell,Jennifer Varian,Sofie West,Sara Widaa,Paul Wray,Jon W. Teague,Adam Butler,Andrew M. Jenkinson,Mingming Jia,David S. Richardson,Rebecca Shepherd,Richard Wooster,M Isabel Tejada,Francisco Martínez,Gemma L. Carvill,Rene Goliath,Arjan P.M. de Brouwer,Hans van Bokhoven,Hilde Van Esch,Jamel Chelly,Martine Raynaud,Hans-Hilger Ropers,Fatima Abidi,Anand Srivastava,James J. Cox,Ying Luo,Uma Mallya,Jenny Moon,Josef Parnau,Shehla Mohammed,John Tolmie,Cheryl Shoubridge,Mark A. Corbett,Alison Gardner,Eric Haan,Sinitdhorn Rujirabanjerd,Marie Shaw,Lucianne Vandeleur,Tod Fullston,Douglas F. Easton,Jackie Boyle,Michael Partington,Anna Hackett,Michael Field,Cindy Skinner,Roger E. Stevenson,Martin Bobrow,Gillian Turner,Charles E. Schwartz,Jozef Gecz,Jozef Gecz,F. Lucy Raymond,P. Andrew Futreal,Michael R. Stratton +79 more
TL;DR: The coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR) are sequenced, the largest direct screen for constitutional disease-causing mutations thus far reported.