Christian Gilissen
AuthID: R-00F-FFW
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TITLE: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data Full Text
AUTHORS: Leslie Matalonga; Carles Hernández Ferrer; Davide Piscia; Enzo Cohen; Enzo Cohen; Isabel Cuesta; Daniel Danis; Anne Sophie Denommé Pichon; Anne Sophie Denommé Pichon; Yannis Duffourd; Christian Gilissen; Mridul Johari; Steven Laurie; Shuang Li; Leslie Matalonga; Isabelle Nelson; Sophia Peters; Ida Paramonov; Sivakumar Prasanth; Peter Robinson; ...More
PUBLISHED: 2021, SOURCE: European Journal of Human Genetics, VOLUME: 29, ISSUE: 9
AUTHORS: Leslie Matalonga; Carles Hernández Ferrer; Davide Piscia; Enzo Cohen; Enzo Cohen; Isabel Cuesta; Daniel Danis; Anne Sophie Denommé Pichon; Anne Sophie Denommé Pichon; Yannis Duffourd; Christian Gilissen; Mridul Johari; Steven Laurie; Shuang Li; Leslie Matalonga; Isabelle Nelson; Sophia Peters; Ida Paramonov; Sivakumar Prasanth; Peter Robinson; ...More
PUBLISHED: 2021, SOURCE: European Journal of Human Genetics, VOLUME: 29, ISSUE: 9
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TITLE: Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
AUTHORS: Suzanne E de Bruijn; Alessia Fiorentino; Daniele Ottaviani; Stephanie Fanucchi; Uira S Melo; Julio C Corral Serrano; Timo Mulders; Michalis Georgiou; Carlo Rivolta; Nikolas Pontikos; Gavin Arno; Lisa Roberts; Jacquie Greenberg; Silvia Albert; Christian Gilissen; Marco Aben; George Rebello; Simon Mead; Lucy L Raymond; Jordi Corominas; ...More
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 107, ISSUE: 5
AUTHORS: Suzanne E de Bruijn; Alessia Fiorentino; Daniele Ottaviani; Stephanie Fanucchi; Uira S Melo; Julio C Corral Serrano; Timo Mulders; Michalis Georgiou; Carlo Rivolta; Nikolas Pontikos; Gavin Arno; Lisa Roberts; Jacquie Greenberg; Silvia Albert; Christian Gilissen; Marco Aben; George Rebello; Simon Mead; Lucy L Raymond; Jordi Corominas; ...More
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 107, ISSUE: 5
INDEXED IN: Scopus WOS
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TITLE: Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis
AUTHORS: Arjan Pol; Herma H Renkema; Albert Tangerman; Edwin G Winkel; Udo F Engelke; Arjan P M de Brouwer; Kent C Lloyd; Renee S Araiza; Lambert van den Heuvel; Heymut Omran; Heike Olbrich; Marijn Oude Elberink; Christian Gilissen; Richard J Rodenburg; Joern Oliver Sass; Otfried O Schwab; Hendrik Schafer; Hanka Venselaar; Silvia S Sequeira; Huub Op M O den Camp; ...More
PUBLISHED: 2018, SOURCE: NATURE GENETICS, VOLUME: 50, ISSUE: 1
AUTHORS: Arjan Pol; Herma H Renkema; Albert Tangerman; Edwin G Winkel; Udo F Engelke; Arjan P M de Brouwer; Kent C Lloyd; Renee S Araiza; Lambert van den Heuvel; Heymut Omran; Heike Olbrich; Marijn Oude Elberink; Christian Gilissen; Richard J Rodenburg; Joern Oliver Sass; Otfried O Schwab; Hendrik Schafer; Hanka Venselaar; Silvia S Sequeira; Huub Op M O den Camp; ...More
PUBLISHED: 2018, SOURCE: NATURE GENETICS, VOLUME: 50, ISSUE: 1
INDEXED IN: WOS
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TITLE: Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing Full Text
AUTHORS: Ingrid P Vogelaar; Rachel S van der Post; Han H J M van Krieken; Liesbeth Spruijt; Wendy A G van Zelst Stams; Marleen M Kets; Jan Lubinski; Anna Jakubowska; Urszula Teodorczyk; Cora M Aalfs; Liselotte P van Hest; Hugo Pinheiro; Carla Oliveira; Shalini N Jhangiani; Donna M Muzny; Richard A Gibbs; James R Lupski; Joep de Ligt; Lisenka E L M Vissers; Alexander Hoischen; ...More
PUBLISHED: 2017, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 25, ISSUE: 11
AUTHORS: Ingrid P Vogelaar; Rachel S van der Post; Han H J M van Krieken; Liesbeth Spruijt; Wendy A G van Zelst Stams; Marleen M Kets; Jan Lubinski; Anna Jakubowska; Urszula Teodorczyk; Cora M Aalfs; Liselotte P van Hest; Hugo Pinheiro; Carla Oliveira; Shalini N Jhangiani; Donna M Muzny; Richard A Gibbs; James R Lupski; Joep de Ligt; Lisenka E L M Vissers; Alexander Hoischen; ...More
PUBLISHED: 2017, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 25, ISSUE: 11
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TITLE: De novo mutations of SETBP1 cause Schinzel-Giedion syndrome Full Text
AUTHORS: Alexander Hoischen; Bregje W M van Bon; Christian Gilissen; Peer Arts; Bart van Lier; Marloes Steehouwer; Petra de Vries; Rick de Reuver; Nienke Wieskamp; Geert Mortier; Koen Devriendt; Marta Z Amorim; Nicole Revencu; Alexa Kidd; Mafalda Barbosa; Anne Turner; Janine Smith; Christina Oley; Alex Henderson; Ian M Hayes; ...More
PUBLISHED: 2010, SOURCE: NATURE GENETICS, VOLUME: 42, ISSUE: 6
AUTHORS: Alexander Hoischen; Bregje W M van Bon; Christian Gilissen; Peer Arts; Bart van Lier; Marloes Steehouwer; Petra de Vries; Rick de Reuver; Nienke Wieskamp; Geert Mortier; Koen Devriendt; Marta Z Amorim; Nicole Revencu; Alexa Kidd; Mafalda Barbosa; Anne Turner; Janine Smith; Christina Oley; Alex Henderson; Ian M Hayes; ...More
PUBLISHED: 2010, SOURCE: NATURE GENETICS, VOLUME: 42, ISSUE: 6
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TITLE: Massively Parallel Sequencing of Ataxia Genes after Array-Based Enrichment Full Text
AUTHORS: Alexander Hoischen; Christian Gilissen; Peer Arts; Nienke Wieskamp; Walter van der Vliet; Sascha Vermeer; Marloes Steehouwer; Petra de Vries; Rowdy Meijer; Jorge Seiqueros ; Nine V A M Knoers; Michael F Buckley; Hans Scheffer; Joris A Veltman;
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 4
AUTHORS: Alexander Hoischen; Christian Gilissen; Peer Arts; Nienke Wieskamp; Walter van der Vliet; Sascha Vermeer; Marloes Steehouwer; Petra de Vries; Rowdy Meijer; Jorge Seiqueros ; Nine V A M Knoers; Michael F Buckley; Hans Scheffer; Joris A Veltman;
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 4