Dorien Lugtenberg

Affiliations

Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.

Publications (11)

Later Response to Corticosteroids in Adults With Primary Focal Segmental Glomerular Sclerosis Is Associated With Favorable Outcomes.

Kidney international reports

Avec: Ilse M Rood , Aernoud Bavinck , Beata S Lipska-Ziętkiewicz , Dorien Lugtenberg , Franz Schaefer , Jeroen K J Deegens , Jack F M Wetzels

Genome sequencing as a generic diagnostic strategy for rare disease.

Genome medicine

Avec: Gaby Schobers , Ronny Derks , Amber den Ouden , Hilde Swinkels , Jeroen van Reeuwijk , Ermanno Bosgoed , Dorien Lugtenberg , Su Ming Sun , Jordi Corominas Galbany , Marjan Weiss , Marinus J Blok , Richelle A C M Olde Keizer , Tom Hofste , Debby Hellebrekers , Nicole de Leeuw , Alexander Stegmann , Erik-Jan Kamsteeg , Aimee D C Paulussen , Marjolijn J L Ligtenberg , Xiangqun Zheng Bradley , John Peden , Alejandra Gutierrez , Adam Pullen , Tom Payne , Christian Gilissen , Arthur van den Wijngaard , Han G Brunner , Marcel Nelen , Helger G Yntema , Lisenka E L M Vissers

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.

HGG advances

Avec: Julie C Van De Weghe , Jessica L Giordano , Inge B Mathijssen , Majid Mojarrad , Dorien Lugtenberg , Caitlin V Miller , Jennifer C Dempsey , Mahsa Sadat Asl Mohajeri , Elizabeth van Leeuwen , Eva Pajkrt , Caroline C W Klaver , Henry Houlden , Atieh Eslahi , Aoife M Waters , Auteur inconnu , Michael J Bamshad , Deborah A Nickerson , Vimla S Aggarwal , Bert B A de Vries , Reza Maroofian , Dan Doherty

Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.

Journal of the American Society of Nephrology : JASN

Avec: Karl P Schlingmann , Aparna Renigunta , Ewout J Hoorn , Anna-Lena Forst , Vijay Renigunta , Velko Atanasov , Sinthura Mahendran , Tahsin Stefan Barakat , Valentine Gillion , Nathalie Godefroid , Alice S Brooks , Dorien Lugtenberg , Jennifer Lake , Huguette Debaix , Christoph Rudin , Bertrand Knebelmann , Stephanie Tellier , Caroline Rousset-Rouvière , Daan Viering , Jeroen H F de Baaij , Stefanie Weber , Oleg Palygin , Alexander Staruschenko , Robert Kleta , Pascal Houillier , Detlef Bockenhauer , Olivier Devuyst , Rosa Vargas-Poussou , Richard Warth , Anselm A Zdebik , Martin Konrad

Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA.

European journal of human genetics : EJHG

Avec: Cenna Doornbos , Ronald van Beek , Ernie M H F Bongers , Dorien Lugtenberg , Peter H M Klaren , Lisenka E L M Vissers , Ronald Roepman , Machteld M Oud

Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling.

American journal of kidney diseases : the official journal of the National Kidney Foundation

Avec: Ilse M Rood , Jeroen K J Deegens , Dorien Lugtenberg , Ernie M H F Bongers , Jack F M Wetzels

Challenges in diagnosis and management of neonatal hyperparathyroidism in a resource-limited country: a case series from a Sudanese family.

The Pan African medical journal

Avec: Samar Sabir Hassan , Marlies Kempers , Dorien Lugtenberg , Asmahan Tajelsir Abdallah , Salwa Abdelbagi Musa , Areej Ahmed Ibrahim , Mohamed Ahmed Abdullah

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.

NPJ genomic medicine

Avec: Lonneke Haer-Wigman , Amber den Ouden , Maria M van Genderen , Hester Y Kroes , Joke Verheij , Dzenita Smailhodzic , Attje S Hoekstra , Raymon Vijzelaar , Jan Blom , Ronny Derks , Menno Tjon-Pon-Fong , Helger G Yntema , Marcel R Nelen , Lisenka E L M Vissers , Dorien Lugtenberg , Kornelia Neveling

Kidney Disease Associated With Mono-allelic

Kidney medicine

Avec: Sander Groen In 't Woud , Ilse M Rood , Eric Steenbergen , Brigith Willemsen , Henry B Dijkman , Michel van Geel , Jeroen Schoots , Jack F M Wetzels , Dorien Lugtenberg , Jeroen K J Deegens , Ernie M H F Bongers

Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series.

Reproductive biomedicine online

Avec: Roos M Smits , Manon S Oud , Lisenka E L M Vissers , Dorien Lugtenberg , Didi D M Braat , Kathrin Fleischer , Liliana Ramos , Kathleen W M D'Hauwers

Polycystic liver disease genes: Practical considerations for genetic testing.

European journal of medical genetics

Avec: Melissa M Boerrigter , Ernie M H F Bongers , Dorien Lugtenberg , Frederik Nevens , Joost P H Drenth

Réseau de co-auteurs

Lisenka E L M Vissers 4 collaborations

Ernie M H F Bongers 4 collaborations

Ilse M Rood 3 collaborations

Jeroen K J Deegens 3 collaborations

Jack F M Wetzels 3 collaborations

Ronny Derks 2 collaborations

Amber den Ouden 2 collaborations

Helger G Yntema 2 collaborations

Aernoud Bavinck 1 collaboration

Beata S Lipska-Ziętkiewicz 1 collaboration

Franz Schaefer 1 collaboration

Gaby Schobers 1 collaboration

Hilde Swinkels 1 collaboration

Jeroen van Reeuwijk 1 collaboration

Ermanno Bosgoed 1 collaboration

Su Ming Sun 1 collaboration

Jordi Corominas Galbany 1 collaboration

Marjan Weiss 1 collaboration

Marinus J Blok 1 collaboration

Richelle A C M Olde Keizer 1 collaboration

Tom Hofste 1 collaboration

Debby Hellebrekers 1 collaboration

Nicole de Leeuw 1 collaboration

Alexander Stegmann 1 collaboration

Erik-Jan Kamsteeg 1 collaboration

Aimee D C Paulussen 1 collaboration

Marjolijn J L Ligtenberg 1 collaboration

Xiangqun Zheng Bradley 1 collaboration

John Peden 1 collaboration

Alejandra Gutierrez 1 collaboration

Adam Pullen 1 collaboration

Tom Payne 1 collaboration

Christian Gilissen 1 collaboration

Arthur van den Wijngaard 1 collaboration

Han G Brunner 1 collaboration

Marcel Nelen 1 collaboration

Julie C Van De Weghe 1 collaboration

Jessica L Giordano 1 collaboration

Inge B Mathijssen 1 collaboration

Majid Mojarrad 1 collaboration

Caitlin V Miller 1 collaboration

Jennifer C Dempsey 1 collaboration

Mahsa Sadat Asl Mohajeri 1 collaboration

Elizabeth van Leeuwen 1 collaboration

Eva Pajkrt 1 collaboration

Caroline C W Klaver 1 collaboration

Henry Houlden 1 collaboration

Atieh Eslahi 1 collaboration

Aoife M Waters 1 collaboration

None None 1 collaboration

Michael J Bamshad 1 collaboration

Deborah A Nickerson 1 collaboration

Vimla S Aggarwal 1 collaboration

Bert B A de Vries 1 collaboration

Reza Maroofian 1 collaboration

Dan Doherty 1 collaboration

Karl P Schlingmann 1 collaboration

Aparna Renigunta 1 collaboration

Ewout J Hoorn 1 collaboration

Anna-Lena Forst 1 collaboration

Vijay Renigunta 1 collaboration

Velko Atanasov 1 collaboration

Sinthura Mahendran 1 collaboration

Tahsin Stefan Barakat 1 collaboration

Valentine Gillion 1 collaboration

Nathalie Godefroid 1 collaboration

Alice S Brooks 1 collaboration

Jennifer Lake 1 collaboration

Huguette Debaix 1 collaboration

Christoph Rudin 1 collaboration

Bertrand Knebelmann 1 collaboration

Stephanie Tellier 1 collaboration

Caroline Rousset-Rouvière 1 collaboration

Daan Viering 1 collaboration

Jeroen H F de Baaij 1 collaboration

Stefanie Weber 1 collaboration

Oleg Palygin 1 collaboration

Alexander Staruschenko 1 collaboration

Robert Kleta 1 collaboration

Pascal Houillier 1 collaboration

Detlef Bockenhauer 1 collaboration

Olivier Devuyst 1 collaboration

Rosa Vargas-Poussou 1 collaboration

Richard Warth 1 collaboration

Anselm A Zdebik 1 collaboration

Martin Konrad 1 collaboration

Cenna Doornbos 1 collaboration

Ronald van Beek 1 collaboration

Peter H M Klaren 1 collaboration

Ronald Roepman 1 collaboration

Machteld M Oud 1 collaboration

Samar Sabir Hassan 1 collaboration

Marlies Kempers 1 collaboration

Asmahan Tajelsir Abdallah 1 collaboration

Salwa Abdelbagi Musa 1 collaboration

Areej Ahmed Ibrahim 1 collaboration

Mohamed Ahmed Abdullah 1 collaboration

Lonneke Haer-Wigman 1 collaboration

Maria M van Genderen 1 collaboration

Hester Y Kroes 1 collaboration

Joke Verheij 1 collaboration

Dzenita Smailhodzic 1 collaboration

Attje S Hoekstra 1 collaboration

Raymon Vijzelaar 1 collaboration

Jan Blom 1 collaboration

Menno Tjon-Pon-Fong 1 collaboration

Marcel R Nelen 1 collaboration

Kornelia Neveling 1 collaboration

Sander Groen In 't Woud 1 collaboration

Eric Steenbergen 1 collaboration

Brigith Willemsen 1 collaboration

Henry B Dijkman 1 collaboration

Michel van Geel 1 collaboration

Jeroen Schoots 1 collaboration

Roos M Smits 1 collaboration

Manon S Oud 1 collaboration

Didi D M Braat 1 collaboration

Kathrin Fleischer 1 collaboration

Liliana Ramos 1 collaboration

Kathleen W M D'Hauwers 1 collaboration

Melissa M Boerrigter 1 collaboration

Frederik Nevens 1 collaboration

Joost P H Drenth 1 collaboration