David A Koolen

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 21

Top Topics

Intellectual Disability

Dna Methylation

Congenital Heart Disease

Top Venues

European journal of human genetics : EJHG

Nature medicine

American journal of medical genetics. Part A

Nature genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Alexander J M Dingemans, Sandra Jansen, Jeroen van Reeuwijk, Nicole de Leeuw, Rolph Pfundt, Janneke Schuurs-Hoeijmakers, Bregje W van Bon, Carlo Marcelis, Charlotte W Ockeloen, Marjolein Willemsen, Pleuntje J van der Sluijs, Gijs W E Santen, R Frank Kooy, Anneke T Vulto-van Silfhout, Tjitske Kleefstra, David A Koolen, Lisenka E L M Vissers, Bert B A de Vries
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals. Nature medicine 30 (7) (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG 32 (3) (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG (2024)
Alexander J M Dingemans, Sandra Jansen, Jeroen van Reeuwijk, Nicole de Leeuw, Rolph Pfundt, Janneke Schuurs-Hoeijmakers, Bregje W van Bon, Carlo Marcelis, Charlotte W Ockeloen, Marjolein Willemsen, Pleuntje J van der Sluijs, Gijs W E Santen, R Frank Kooy, Anneke T Vulto-van Silfhout, Tjitske Kleefstra, David A Koolen, Lisenka E L M Vissers, Bert B A de Vries
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals. Nature medicine 30 (7) (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG 32 (3) (2024)
Alexander J M Dingemans, Sandra Jansen, Jeroen van Reeuwijk, Nicole de Leeuw, Rolph Pfundt, Janneke Schuurs-Hoeijmakers, Bregje W van Bon, Carlo Marcelis, Charlotte W Ockeloen, Marjolein Willemsen, Pleuntje J van der Sluijs, Gijs W E Santen, R Frank Kooy, Anneke T Vulto-van Silfhout, Tjitske Kleefstra, David A Koolen, Lisenka E L M Vissers, Bert B A de Vries
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals. Nature medicine (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG 32 (3) (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG 32 (3) (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG 32 (3) (2024)
Alexander J M Dingemans, Max Hinne, Kim M G Truijen, Lia C M J Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J Diets, Joery den Hoed, Elke de Boer, Jet Coenen-van der Spek, Sandra Jansen, Bregje W van Bon, Noraly Jonis, Charlotte W Ockeloen, Anneke T Vulto-van Silfhout, Tjitske Kleefstra, David A Koolen, Philippe M Campeau, Emma Elizabeth Palmer, Hilde Van Esch, Gholson J Lyon, Fowzan Sami Alkuraya, Anita Rauch, Ronit Marom, Diana Baralle, Pleuntje J van der Sluijs, Gijs W E Santen, R Frank Kooy, Marcel A J van Gerven, Lisenka E L M Vissers, Bert B A de Vries
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework. Nature genetics (2023)
Michael A Gargano, Nicolas A Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer L Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noemi Dahan-Oliel, Jon Robert Davids, Maud De Dieuleveult, Vinicius de Souza, Bert B A de Vries, Esther de Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander J M Dingemans, Bruno Donadille, Michael Henri Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberley C Gilmour, Jessica L Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Pazmandi, Benjamin M Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun Oliver He, Harshad Hegde, Ingo Helbig, Kateřina Řehořová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius O B Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike A A Kusters, Markus S Ladewig, David Lagorce, Meng-Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martínez-González, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Zelinová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julián Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, Michael C Neale, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy T Peters, Timothy Putman, Christina K Rapp, Ana Rath, Justin T Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah H Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair Antonio Tenorio Castaño, Pavel Tesner, Rhys Huw Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ronald J Wapner, James Simon Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot Julia Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher John Mungall, Sebastian Koehler, Melissa A Haendel, Peter Nick Robinson
The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic acids research (2023)
Arianne Bouman, Romy N Bouwmeester, Leo A van Vlimmeren, Pauline Burger, Jean-Louis Mandel, Bert B A de Vries, Marinus de Kleuver, Willemijn M Klein, Joyce M Geelen, David A Koolen
Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome. American journal of medical genetics. Part A (2023)
Eline A Verberne, Liselot van der Laan, Sadegheh Haghshenas, Kathleen Rooney, Michael A Levy, Mariëlle Alders, Saskia M Maas, Sandra Jansen, Agne Lieden, Britt-Marie Anderlid, Louise Rafael-Croes, Philippe M Campeau, Ayeshah Chaudhry, David A Koolen, Rolph Pfundt, Anna C E Hurst, Frederic Tran-Mau-Them, Ange-Line Bruel, Laetitia Lambert, Bertrand Isidor, Marcel M A M Mannens, Bekim Sadikovic, Peter Henneman, Mieke M van Haelst
DNA Methylation Signature for JARID2 -Neurodevelopmental Syndrome. International journal of molecular sciences 23 (14) (2022)
Miya St John, Olivia van Reyk, David A Koolen, Bert B A de Vries, David J Amor, Angela T Morgan
Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature. European journal of human genetics : EJHG (2022)
Alexander J M Dingemans, Diante E Stremmelaar, Roos van der Donk, Lisenka E L M Vissers, David A Koolen, Patrick Rump, Jayne Y Hehir-Kwa, Bert B A de Vries
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome. European journal of human genetics : EJHG 29 (9) (2021)
Maria J Nabais Sá, Hanka Venselaar, Laurens Wiel, Aurélien Trimouille, Eulalie Lasseaux, Sophie Naudion, Didier Lacombe, Amélie Piton, Catherine Vincent-Delorme, Christiane Zweier, André Reis, Regina Trollmann, Anna Ruiz, Elisabeth Gabau, Annalisa Vetro, Renzo Guerrini, Somayeh Bakhtiari, Michael C Kruer, David J Amor, Monica S Cooper, Emilia K Bijlsma, Tahsin Stefan Barakat, Marieke F van Dooren, Marjon van Slegtenhorst, Rolph Pfundt, Christian Gilissen, Michèl A Willemsen, Bert B A de Vries, Arjan P M de Brouwer, David A Koolen
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy. Genetics in medicine : official journal of the American College of Medical Genetics 22 (4) (2019)