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G

Gijs W.E. Santen

leiden university - excl lumc

40H-index
167Paper Count
6.8KCitation Count
Published Papers 90
Publication Date
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The Way We Do Things is Unsustainable-Exploring Symptoms of Burnout Among Healthcare Professionals in Prenatal Genomics
errPrenatal Diagnosis
IF2.7
err2026-02-01
err0
errOAAI
errde Koning, Maayke; Long, Sarah; de Vries, Marit; Evans, Holly; Kelada, Lauren; Haak, Monique; Fernihough, Gemma; Santen, Gijs; Suerink, Manon; Roscioli, Tony
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errSave
Improving prognostication for individuals with FOXP1 syndrome: Parent-reported practical and social skills in 52 individuals
errResearch in Developmental Disabilities
IF2.6
err2025-11-01
err0
errOAAI
errSaskia Koene; Marieke Rothuizen-Lindenschot; Fabienne G. Ropers; Gijs W.E. Santen; Ruth Braden; Angela Morgan; Jannelien Wieland; Helma B.M. van Gameren-Oosterom
errShare
errSave
Predicted loss-of-function variants before Met584 in ARID1B in population cohorts likely reflect reduced penetrance and should be reported diagnostically
errGenome Medicine
IF11.2
err2025-10-08
err0
errOAAI
errPleuntje J. van der Sluijs; Gijs W. E. Santen
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errSave
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder
errThe American Journal of Human Genetics
IF0
err2025-09-09
err0
errOAAI
errHammad Yousaf; Maayke A. de Koning; Kamal Khan; Kelly L. Gilmore; Mariëtte J.V. Hoffer; Georgios Kellaris; Sophie Lanone; Maylis Dagouassat; Farid Ullah; Phebe N. Adama van Scheltema; Delphine Heron; Yline Capri; Alma Kuechler; Bernd Schweiger; Monique C. Haak; Boris Keren; Frederic Tran Mau Them; Cacha M.P.C.D. Peeters-Scholte; Frank J. Kaiser; Tamara T. Koopmann; Hailiang Mei; Binnaz Yalcin; Christel Depienne; Neeta L. Vora; Gijs W.E. Santen; Erica E. Davis
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errSave
Prenatal Variants of Uncertain Significance (VUS): to report or not to report?
errEuropean Journal of Human Genetics
IF4.6
err2025-08-21
err0
PREAI
errMaayke A. de Koning; Malgorzata I. Srebniak; Esther J. Oldekamp; Denise Hahn; Karin E. M. Diderich; Hennie T. Bruggenwirth; Gijs W. E. Santen; Mariëtte J. V. Hoffer; Manon Suerink
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errSave
Two new cases of KYNU deficiency: Further delineation of the phenotypic and biochemical spectrum and exploration of treatment options
errMolecular Genetics and Metabolism
IF3.5
err2025-07-19
err0
errOAAI
errSusanna M.I. Goorden; Désirée Y. van Haaften-Visser; Maria M. Trętowicz; Ramon Bonte; Elly Bogaerts; Youssra Jamal; Sandrien Vrieswijk; Erika Huijser; Regina Bökenkamp; Roel L.F. van der Palen; Mariette J.V. Hoffer; Riekelt H. Houtkooper; Frédéric M. Vaz; Gijs W.E. Santen; Jörgen Bierau; Esmeralda Oussoren
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ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-03-01
err0
errOAAI
errHoudayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Celine; Alders, Marielle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogne, Benjamin; Cormier-Daire, Valerie; Delanne, Julian; Demaret, Tanguy; Denomme-Pichon, Anne-Sophie; Desir, Julie; Dubourg, Christele; Fradin, Melanie; Genevieve, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W.; Guichet, Agnes; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A.; Mcconkey, Haley; Mendelsohn, Bryce A.; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clement; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W. E.; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frederic Tran; Trost, Detlef; van der Sluijs, Pleuntje J.; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle
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errSave
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy
errGENETICS IN MEDICINE
IF6.2
err2025-01-01
err0
errOAAI
errvan der Sluijs, Pleuntje J.; Moutton, Sebastien; Dingemans, Alexander J. M.; Weis, Denisa; Levy, Michael A.; Boycott, Kym M.; Arberas, Claudia; Baldassarri, Margherita; Beneteau, Claire; Brusco, Alfredo; Coutton, Charles; Dabir, Tabib; Dentici, Maria L.; Devriendt, Koenraad; Faivre, Laurence; Haelst, Mieke M. van; Jizi, Khadije; Kempers, Marlies J.; Kerkhof, Jennifer; Kharbanda, Mira; Lachlan, Katherine; Marle, Nathalie; Mcconkey, Haley; Mencarelli, Maria A.; Mowat, David.; Niceta, Marcello; Nicolas, Claire; Novelli, Antonio; Orlando, Valeria; Pichon, Olivier; Rankin, Julia; Relator, Raissa.; Ropers, Fabienne G.; Rosenfeld, Jill A.; Sachdev, Rani; Sandaradura, Sarah A.; Shukarova-Angelovska, Elena; Steenbeek, Duco; Tartaglia, Marco; Tedder, Matthew A.; Trajkova, Slavica; Winer, Norbert; Woods, Jeremy; de Vries, Bert B. A.; Sadikovic, Bekim; Alders, Marielle; Santen, Gijs W. E.
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errSave
Clonazepam repurposing in ARID1B patients through conventional RCT and N-of-1 trials: an experimental strategy for orphan disease development
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2024-12-31
err1
PREAI
errvan der Sluijs, Pleuntje J.; Safai Pour, Koshar; Berends, Cecile L.; Kruizinga, Matthijs D.; Mueller, Annelieke R.; van Eeghen, Agnies M.; Rodriguez-Girondo, Mar; Juachon, Maria J.; Steenbeek, Duco; Cohen, Adam F.; Zuiker, Rob G. J. A.; Santen, Gijs W. E.
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errSave
ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-10-01
err2
errOAAI
errBarnada, Samantha M.; de Gracia, Aida Giner; Morenilla-Palao, Cruz; Lopez-Cascales, Maria Teresa; Scopa, Chiara; Waltrich Jr, Francis J.; Mikkers, Harald M. M.; Cicardi, Maria Elena; Karlin, Jonathan; Trotti, Davide; Peterson, Kevin A.; Brugmann, Samantha A.; Santen, Gijs W. E.; McMahon, Steven B.; Herrera, Eloisa; Trizzino, Marco
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errSave
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-08-01
err8
PREAI
errRots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J. M.; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W.; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; Calkoen, Rixje van Beeck; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W. E.; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M.; Bijlsma, Emilia K.; Hakonen, Anna H.; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L.; Welling, Lindsey; Plomp, Astrid S.; Vanhoutte, Els K.; Kalsner, Louisa; Hol, Janna A.; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, Andre; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Ozcan, Kubra; Miot, Stephanie; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L.; Muir, Alison M.; Sadikovic, Bekim; Brunner, Han G.; Vissers, Lisenka E. L. M.; Shinkai, Yoichi; Kleefstra, Tjitske
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errSave
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals
errNATURE MEDICINE
IF50
err2024-05-14
err1
PREAI
errDingemans, Alexander J. M.; Jansen, Sandra; van Reeuwijk, Jeroen; de Leeuw, Nicole; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke; van Bon, Bregje W.; Marcelis, Carlo; Ockeloen, Charlotte W.; Willemsen, Marjolein; van der Sluijs, Pleuntje J.; Santen, Gijs W. E.; Kooy, R. Frank; Vulto-van Silfhout, Anneke T.; Kleefstra, Tjitske; Koolen, David A.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.
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errSave
De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2024-01-25
err1
errOAAI
errde Koning, Maayke A.; Pimienta Ramirez, Paula A.; Haak, Monique C.; Han, Xiao; Ruiterkamp-Versteeg, Martina H. A.; de Leeuw, Nicole; Schatz, Ulrich A.; Shoukier, Moneef; Rieger-Fackeldey, Esther; Ortiz, Javier U.; van Duinen, Sjoerd G.; Klein, Willemijn M.; Witlox, Ruben S. G. M.; Finnell, Richard H.; Santen, Gijs W. E.; Lei, Yunping; Suerink, Manon
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errSave
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2023-12-16
err4
PREAI
errKoene, Saskia; Ropers, Fabienne Gwendolin; Wieland, Jannelien; Rybak, Tamara; Wildschut, Floor; Berghuis, Dagmar; Morgan, Angela; Trelles, Maria Pilar; Scheepe, Jeroen Ronald; Boekenkamp, Regina; Peeters-Scholte, Cacha M. P. C. D.; Braden, Ruth; Santen, Gijs W. E.
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errSave
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
errGENETICS IN MEDICINE
IF6.2
err2023-11-01
err4
errOAAI
errBosch, Elisabeth; Popp, Bernt; Guese, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J.; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Oezlem; Hartwich, Dewi; Holthoefer, Laura; Isidor, Bertrand; Cogne, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Abou Jamra, Rami; Platzer, Konrad; Carter, Lauren B.; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cusco, Ivon; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mefford, Heather C.; Pereira, Elaine M.; Close, Charlotte; Anyane-Yeboa, Kwame; Wagner, Mallory; Hannibal, Mark C.; Zacher, Pia; Thiffault, Isabelle; Beunders, Gea; Umair, Muhammad; Bhola, Priya T.; Mcginnis, Erin; Millichap, John; van de Kamp, Jiddeke M.; Prijoles, Eloise J.; Dobson, Amy; Shillington, Amelle; Graham, Brett H.; Garcia, Evan-Jacob; Galindo, Maureen Kelly; Ropers, Fabienne G.; Nibbeling, Esther A. R.; Hubbard, Gail; Karimov, Catherine; Goj, Guido; Bend, Renee; Rath, Julie; Morrow, Michelle M.; Millan, Francisca; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Kurki, Mitja; Stevenson, Roger E.; Santen, Gijs W. E.; Zweier, Markus; Campeau, Philippe M.; Severino, Mariasavina; Reis, Andre; Accogli, Andrea; Vasileiou, Georgia
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errSave
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein (vol 24, pg 2051, 2022)
errGENETICS IN MEDICINE
IF6.2
err2023-11-01
err1
errOAAI
errde Boer, Elke; Ockeloen, Charlotte W.; Kampen, Rosalie A.; Hampstead, Juliet E.; Dingemans, Alexander J. M.; Rots, Dmitrijs; Lutje, Lukas; Ashraf, Tazeen; Baker, Rachel; Barat-Houari, Mouna; Angle, Brad; Chatron, Nicolas; Denomme-Pichon, Anne-Sophie; Devinsky, Orrin; Dubourg, Christele; Elmslie, Frances; Elloumi, Houda Zghal; Faivre, Laurence; Fitzgerald-Butt, Sarah; Genevieve, David; Goos, Jacqueline A. C.; Helm, Benjamin M.; Kini, Usha; Lasa-Aranzasti, Amaia; Lesca, Gaetan; Lynch, Sally A.; Mathijssen, Irene M. J.; McGowan, Ruth; Monaghan, Kristin G.; Odent, Sylvie; Pfundt, Rolph; Putoux, Audrey; van Reeuwijk, Jeroen; Santen, Gijs W. E.; Sasaki, Erina; Sorlin, Arthur; van der Spek, Peter J.; Stegmann, Alexander P. A.; Swagemakers, Sigrid M. A.; Valenzuela, Irene; Viora-Dupont, Eleonore; Vitobello, Antonio; Ware, Stephanie M.; Weber, Mathys; Gilissen, Christian; Low, Karen J.; Fisher, Simon E.; Vissers, Lisenka E. L. M.; Wong, Maggie M. K.; Kleefstra, Tjitske
errShare
errSave
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
errNATURE GENETICS
IF31.8
err2023-08-07
err16
errOAAI
errDingemans, Alexander J. M.; Hinne, Max; Truijen, Kim M. G.; Goltstein, Lia; van Reeuwijk, Jeroen; de Leeuw, Nicole; Schuurs-Hoeijmakers, Janneke; Pfundt, Rolph; Diets, Illja J.; den Hoed, Joery; de Boer, Elke; van der Spek, Jet; Jansen, Sandra; van Bon, Bregje W.; Jonis, Noraly; Ockeloen, Charlotte W.; Vulto-van Silfhout, Anneke T.; Kleefstra, Tjitske; Koolen, David A.; Campeau, Philippe M.; Palmer, Elizabeth E.; Van Esch, Hilde; Lyon, Gholson J.; Alkuraya, Fowzan S.; Rauch, Anita; Marom, Ronit; Baralle, Diana; van der Sluijs, Pleuntje J.; Santen, Gijs W. E.; Kooy, R. Frank; van Gerven, Marcel A. J.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.
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errSave
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders
errNATURE GENETICS
IF31.8
err2023-07-27
err24
errOAAI
errValencia, Alfredo M.; Sankar, Akshay; van der Sluijs, Pleuntje J.; Satterstrom, F. Kyle; Fu, Jack; Talkowski, Michael E.; Vergano, Samantha A. Schrier; Santen, Gijs W. E.; Kadoch, Cigall
errShare
errSave
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort (vol 24, pg 1753, 2022)
errGENETICS IN MEDICINE
IF6.2
err2023-02-01
err0
errOAAI
errvan der Sluijs, Pleuntje J.; Joosten, Marieke; Alby, Caroline; Attie-Bitach, Tania; Gilmore, Kelly; Dubourg, Christele; Fradin, Melanie; Wang, Tianyun; Kurtz-Nelson, Evangeline C.; Ahlers, Kaitlyn P.; Arts, Peer; Barnett, Christopher P.; Ashfaq, Myla; Baban, Anwar; van den Born, Myrthe; Borrie, Sarah; Busa, Tiffany; Byrne, Alicia; Carriero, Miriam; Cesario, Claudia; Chong, Karen; Cueto-Gonzalez, Anna Maria; Dempsey, Jennifer C.; Diderich, Karin E. M.; Doherty, Dan; Farholt, Stense; Gerkes, Erica H.; Gorokhova, Svetlana; Govaerts, Lutgarde C. P.; Gregersen, Pernille A.; Hickey, Scott E.; Lefebvre, Mathilde; Mari, Francesca; Martinovic, Jelena; Northrup, Hope; O'Leary, Melanie; Parbhoo, Kareesma; Patrier, Sophie; Popp, Bernt; Santos-Simarro, Fernando; Stoltenburg, Corinna; Thauvin-Robinet, Christel; Thompson, Elisabeth; Vulto-van Silfhout, Anneke T.; Zahir, Farah R.; Scott, Hamish S.; Earl, Rachel K.; Eichler, Evan E.; Vora, Neeta L.; Wilnai, Yael; Giordano, Jessica L.; Wapner, Ronald J.; Rosenfeld, Jill A.; Haak, Monique C.; Santen, Gijs W. E.
errShare
errSave
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2022-10-17
err8
errOAAI
errKoopmann, Tamara T.; Jamshidi, Yalda; Naghibi-Sistani, Mohammad; van der Klift, Heleen M.; Birjandi, Hassan; Al-Hassnan, Zuhair; Alwadai, Abdullah; Zifarelli, Giovanni; Karimiani, Ehsan G.; Sedighzadeh, Sahar; Bahreini, Amir; Nouri, Nayereh; Peter, Merlene; Watanabe, Kyoko; van Duyvenvoorde, Hermine A.; Ruivenkamp, Claudia A. L.; Teunissen, Aalbertine K. K.; Ten Harkel, Arend D. J.; van Duinen, Sjoerd G.; Haak, Monique C.; Prada, Carlos E.; Santen, Gijs W. E.; Maroofian, Reza
errShare
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Research Directions

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