Researcher
Christian Gilissen
Universitair Medisch Centrum Sint Radboud
Statistics
110 papers found
All papers authored by Christian Gilissen
Refreshing results…
2023
Ghada M. H. Abdel-Salam,
Susanne Hellmuth,
Elise Gradhand,
Stephan Käseberg 
,
Jennifer Winter,
Ann-Sophie Pabst,
Maha M. Eid,
Holger Thiele ,
Peter Nürnberg ,
Birgit S. Budde,
Mohammad Reza Toliat ,
Ines B. Brecht ,
Christopher Schroeder,
Axel Gschwind ,
Stephan Ossowski
and 19 other authors
Download from doi.org
,
Jennifer Winter,
Ann-Sophie Pabst,
Maha M. Eid,
Holger Thiele ,
Peter Nürnberg ,
Birgit S. Budde,
Mohammad Reza Toliat ,
Ines B. Brecht ,
Christopher Schroeder,
Axel Gschwind ,
Stephan Ossowski
and 19 other authors
Download from doi.org
Charlotte Gehin ,
Museer A. Lone ,
Winston Lee,
Laura Capolupo ,
Sylvia Ho ,
Adekemi M. Adeyemi,
Erica H. Gerkes,
Alexander Pa A. Stegmann ,
Estrella López-Martín,
Eva Bermejo-Sánchez ,
Beatriz Martínez-Delgado,
Christiane Zweier,
Cornelia Kraus,
Bernt Popp ,
Vincent Strehlow
and 72 other authors
,
Museer A. Lone ,
Winston Lee,
Laura Capolupo ,
Sylvia Ho ,
Adekemi M. Adeyemi,
Erica H. Gerkes,
Alexander Pa A. Stegmann ,
Estrella López-Martín,
Eva Bermejo-Sánchez ,
Beatriz Martínez-Delgado,
Christiane Zweier,
Cornelia Kraus,
Bernt Popp ,
Vincent Strehlow
and 72 other authors
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
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2022
Irene Vázquez-Domínguez ,
Lonneke Duijkers,
Zeinab Fadaie,
Eef C. W. Alaerds,
Merel A. Post,
Edwin M. van Oosten,
Luke O’Gorman,
Michael Kwint,
Louet Koolen ,
Anita D. M. Hoogendoorn,
Hester Y. Kroes,
Christian Gilissen ,
Frans P. M. Cremers,
Rob W. J. Collin ,
Susanne Roosing
and 1 other authors
Download from doi.org
,
Lonneke Duijkers,
Zeinab Fadaie,
Eef C. W. Alaerds,
Merel A. Post,
Edwin M. van Oosten,
Luke O’Gorman,
Michael Kwint,
Louet Koolen ,
Anita D. M. Hoogendoorn,
Hester Y. Kroes,
Christian Gilissen ,
Frans P. M. Cremers,
Rob W. J. Collin ,
Susanne Roosing
and 1 other authors
Download from doi.org
Bart P. G. H. van der Sanden ,
Gaby Schobers,
Jordi Corominas Galbany,
David A. Koolen,
Margje Sinnema,
Jeroen van Reeuwijk ,
Connie T. R. M. Stumpel,
Tjitske Kleefstra,
Bert B. A. de Vries ,
Martina Ruiterkamp-Versteeg,
Nico Leijsten,
Michael Kwint,
Ronny Derks,
Hilde Swinkels,
Amber den Ouden
and 11 other authors
,
Gaby Schobers,
Jordi Corominas Galbany,
David A. Koolen,
Margje Sinnema,
Jeroen van Reeuwijk ,
Connie T. R. M. Stumpel,
Tjitske Kleefstra,
Bert B. A. de Vries ,
Martina Ruiterkamp-Versteeg,
Nico Leijsten,
Michael Kwint,
Ronny Derks,
Hilde Swinkels,
Amber den Ouden
and 11 other authors
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
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Gelana Khazeeva,
Karolis Sablauskas,
Bart van der Sanden,
Wouter Steyaert,
Michael Kwint,
Dmitrijs Rots ,
Max Hinne,
Marcel van Gerven,
Helger Yntema,
Lisenka Vissers,
Christian Gilissen
,
Max Hinne,
Marcel van Gerven,
Helger Yntema,
Lisenka Vissers,
Christian Gilissen
DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data
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Erika Souche,
Sergi Beltran ,
Erwin Brosens ,
John W. Belmont,
Magdalena Fossum,
Olaf Riess,
Christian Gilissen ,
Amin Ardeshirdavani,
Gunnar Houge,
Marielle van Gijn ,
Jill Clayton-Smith,
Matthis Synofzik ,
Nicole de Leeuw,
Zandra C. Deans ,
Yasemin Dincer
and 16 other authors
,
Erwin Brosens ,
John W. Belmont,
Magdalena Fossum,
Olaf Riess,
Christian Gilissen ,
Amin Ardeshirdavani,
Gunnar Houge,
Marielle van Gijn ,
Jill Clayton-Smith,
Matthis Synofzik ,
Nicole de Leeuw,
Zandra C. Deans ,
Yasemin Dincer
and 16 other authors
Recommendations for whole genome sequencing in diagnostics for rare diseases
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Wouter Steyaert,
Lonneke Haer-Wigman,
Rolph Pfundt,
Debby Hellebrekers,
Marloes Steehouwer,
Juliet Hampstead,
Elke de Boer ,
Alexander Stegmann ,
Helger Yntema ,
Erik-Jan Kamsteeg ,
Han Brunner,
Alexander Hoischen ,
Christian Gilissen
,
Alexander Stegmann ,
Helger Yntema ,
Erik-Jan Kamsteeg ,
Han Brunner,
Alexander Hoischen ,
Christian Gilissen
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation
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2021
Yulia Kargapolova ,
Rizwan Rehimi,
Hülya Kayserili ,
Joanna Brühl,
Konstantinos Sofiadis,
Anne Zirkel,
Spiros Palikyras,
Athanasia Mizi,
Yun Li,
Gökhan Yigit ,
Alexander Hoischen ,
Bregje van Bon,
Stefan Frank,
Nicole Russ,
Jonathan Trautwein
and 16 other authors
Download from doi.org
,
Rizwan Rehimi,
Hülya Kayserili ,
Joanna Brühl,
Konstantinos Sofiadis,
Anne Zirkel,
Spiros Palikyras,
Athanasia Mizi,
Yun Li,
Gökhan Yigit ,
Alexander Hoischen ,
Bregje van Bon,
Stefan Frank,
Nicole Russ,
Jonathan Trautwein
and 16 other authors
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Zeinab Fadaie ,
Laura Whelan ,
Adrian Dockery ,
Catherina H. Z. Li ,
L. Ingeborgh van den Born ,
Carel B. Hoyng ,
Christian Gilissen ,
Jordi Corominas ,
Charlie Rowlands ,
Roly Megaw ,
Anne K. Lampe ,
Frans P. M. Cremers ,
Gwyneth Jane Farrar ,
Jamie M. Ellingford ,
Paul F. Kenna
and 1 other authors
,
Laura Whelan ,
Adrian Dockery ,
Catherina H. Z. Li ,
L. Ingeborgh van den Born ,
Carel B. Hoyng ,
Christian Gilissen ,
Jordi Corominas ,
Charlie Rowlands ,
Roly Megaw ,
Anne K. Lampe ,
Frans P. M. Cremers ,
Gwyneth Jane Farrar ,
Jamie M. Ellingford ,
Paul F. Kenna
and 1 other authors
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
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Marc Pauper,
Erdi Kucuk ,
Aaron M. Wenger,
Shreyasee Chakraborty,
Primo Baybayan,
Michael Kwint,
Bart van der Sanden ,
Marcel R. Nelen,
Ronny Derks,
Han G. Brunner,
Alexander Hoischen ,
Lisenka E. L. M. Vissers ,
Christian Gilissen
,
Aaron M. Wenger,
Shreyasee Chakraborty,
Primo Baybayan,
Michael Kwint,
Bart van der Sanden ,
Marcel R. Nelen,
Ronny Derks,
Han G. Brunner,
Alexander Hoischen ,
Lisenka E. L. M. Vissers ,
Christian Gilissen
Correction: Long-read trio sequencing of individuals with unsolved intellectual disability
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2020
Marc Pauper,
Erdi Kucuk ,
Aaron M. Wenger,
Shreyasee Chakraborty,
Primo Baybayan,
Michael Kwint,
Bart van der Sanden ,
Marcel R. Nelen,
Ronny Derks,
Han G. Brunner,
Alexander Hoischen ,
Lisenka E. L. M. Vissers ,
Christian Gilissen
,
Aaron M. Wenger,
Shreyasee Chakraborty,
Primo Baybayan,
Michael Kwint,
Bart van der Sanden ,
Marcel R. Nelen,
Ronny Derks,
Han G. Brunner,
Alexander Hoischen ,
Lisenka E. L. M. Vissers ,
Christian Gilissen
Long-read trio sequencing of individuals with unsolved intellectual disability
Download from www.nature.com
Ilse M. van der Werf,
Sandra Jansen ,
Petra F. de Vries,
Amber Gerstmans,
Maartje van de Vorst,
Anke Van Dijck ,
Bert B. A. de Vries,
Christian Gilissen ,
Alexander Hoischen ,
Lisenka E. L. M. Vissers,
R. Frank Kooy,
R. Frank Kooy ,
Geert Vandeweyer
Download from www.nature.com
,
Petra F. de Vries,
Amber Gerstmans,
Maartje van de Vorst,
Anke Van Dijck ,
Bert B. A. de Vries,
Christian Gilissen ,
Alexander Hoischen ,
Lisenka E. L. M. Vissers,
R. Frank Kooy,
R. Frank Kooy ,
Geert Vandeweyer
Download from www.nature.com
Tiana M. Scott ,
Hui Guo ,
Evan E. Eichler,
Jill A. Rosenfeld ,
Kaifang Pang,
Zhandong Liu,
Seema Lalani,
Weimin Bi ,
Yaping Yang ,
Carlos A. Bacino,
Haley Streff ,
Andrea M. Lewis,
Mary K. Koenig,
Isabelle Thiffault ,
Allison Bellomo
and 10 other authors
Download from api.wiley.com
,
Hui Guo ,
Evan E. Eichler,
Jill A. Rosenfeld ,
Kaifang Pang,
Zhandong Liu,
Seema Lalani,
Weimin Bi ,
Yaping Yang ,
Carlos A. Bacino,
Haley Streff ,
Andrea M. Lewis,
Mary K. Koenig,
Isabelle Thiffault ,
Allison Bellomo
and 10 other authors
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2019
Kriti D. Khandelwal,
Marie-José H. van den Boogaard,
Sarah L. Mehrem,
Jakob Gebel,
Christina Fagerberg ,
Ellen van Beusekom,
Ellen van Binsbergen,
Ozan Topaloglu,
Marloes Steehouwer,
Christian Gilissen ,
Nina Ishorst,
Iris A. L. M. van Rooij,
Nel Roeleveld,
Kaare Christensen,
Joseph Schoenaers
and 11 other authors
,
Ellen van Beusekom,
Ellen van Binsbergen,
Ozan Topaloglu,
Marloes Steehouwer,
Christian Gilissen ,
Nina Ishorst,
Iris A. L. M. van Rooij,
Nel Roeleveld,
Kaare Christensen,
Joseph Schoenaers
and 11 other authors
Deletions and loss-of-function variants in TP63 associated with orofacial clefting
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Simone Lipinski ,
Britt-Sabina Petersen ,
Matthias Barann ,
Agnes Piecyk,
Florian Tran ,
Gabriele Mayr,
Marlene Jentzsch,
Konrad Aden ,
Stephanie T. Stengel,
Ulrich C. Klostermeier,
Vrunda Sheth,
David Ellinghaus,
Tobias Rausch ,
Jan O. Korbel ,
Michael Nothnagel
and 10 other authors
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,
Britt-Sabina Petersen ,
Matthias Barann ,
Agnes Piecyk,
Florian Tran ,
Gabriele Mayr,
Marlene Jentzsch,
Konrad Aden ,
Stephanie T. Stengel,
Ulrich C. Klostermeier,
Vrunda Sheth,
David Ellinghaus,
Tobias Rausch ,
Jan O. Korbel ,
Michael Nothnagel
and 10 other authors
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2017
Anneke T. Vulto-Van Silfhout,
Christian Gilissen ,
Jelle J. Goeman,
Sandra Jansen ,
Claudia J. M. van Amen-Hellebrekers,
Bregje W. M. van Bon,
David A. Koolen,
Erik A. Sistermans,
Han G. Brunner,
Arjan P. M. de Brouwer,
Bert B. A. de Vries
,
Jelle J. Goeman,
Sandra Jansen ,
Claudia J. M. van Amen-Hellebrekers,
Bregje W. M. van Bon,
David A. Koolen,
Erik A. Sistermans,
Han G. Brunner,
Arjan P. M. de Brouwer,
Bert B. A. de Vries
Quantification of Phenotype Information Aids the Identification of Novel Disease Genes
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2016
Rolph Pfundt,
Marisol del Rosario ,
Lisenka E. L. M. Vissers,
Michael P. Kwint,
Irene M. Janssen,
Nicole de Leeuw ,
Helger G. Yntema,
Marcel R. Nelen,
Dorien Lugtenberg,
Erik-Jan Kamsteeg,
Nienke Wieskamp,
Alexander P. A. Stegmann ,
Servi J. C. Stevens,
Richard J. T. Rodenburg ,
Annet Simons
and 6 other authors
Download from www.nature.com
,
Lisenka E. L. M. Vissers,
Michael P. Kwint,
Irene M. Janssen,
Nicole de Leeuw ,
Helger G. Yntema,
Marcel R. Nelen,
Dorien Lugtenberg,
Erik-Jan Kamsteeg,
Nienke Wieskamp,
Alexander P. A. Stegmann ,
Servi J. C. Stevens,
Richard J. T. Rodenburg ,
Annet Simons
and 6 other authors
Download from www.nature.com
S. Riazuddin,
Mureed Hussain,
A. Razzaq,
Zafar Iqbal ,
PhD PDr Prof. Zafar Iqbal,
Mohsin Shahzad,
Daniel L. Polla,
Y. Song,
E. van Beusekom,
A. A. Khan,
Khan Aa,
L. Tomas-Roca,
Laura Tomas Roca,
M. Rashid,
Muhammad Yasir Zahoor
and 29 other authors
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,
PhD PDr Prof. Zafar Iqbal,
Mohsin Shahzad,
Daniel L. Polla,
Y. Song,
E. van Beusekom,
A. A. Khan,
Khan Aa,
L. Tomas-Roca,
Laura Tomas Roca,
M. Rashid,
Muhammad Yasir Zahoor
and 29 other authors
Download from www.nature.com
Bart P. van de Warrenburg,
Meyke I. Schouten,
Susanne T. de Bot,
Sascha Vermeer,
Rowdy Meijer,
Maartje Pennings,
Christian Gilissen ,
Michèl Aap Willemsen,
Hans Scheffer,
Erik-Jan Kamsteeg
Download from www.nature.com
,
Michèl Aap Willemsen,
Hans Scheffer,
Erik-Jan Kamsteeg
Download from www.nature.com
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