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M

Marjon van Slegtenhorst

Department of Clinical Genetics

35H-index
162Paper Count
8.5KCitation Count
Published Papers 55
Publication Date
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making
err2025-10-20
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errOAAI
errDaphne J. Smits; Federico Ferraro; Mark Drost; Herma C. van der Linde; Bianca M. de Graaf; Yolande van Bever; Alice S. Brooks; Livija Bardina; Hennie T. Brüggenwirth; Christophe Debuy; Laura Donker Kaat; Bastiaan T. van Dijk; Nienke van Engelen; Geert Geeven; Raoul van de Graaf; Désirée Y. van Haaften-Visser; Peter M. van Hasselt; Daphne Heijsman; Yvonne M. C. Hendriks; Rebekkah J. Hitti-Malin; Lies H. Hoefsloot; Glenn Huijbregts; Hanna IJspeert; Sander Lamballais; Jona Mijalkovic; Merel O. Mol; Diënna Nawawi; Nadine Nederpelt; Esther A. R. Nibbeling; Wouter te Rijdt; Rachel Schot; Marjon van Slegtenhorst; Frank Sleutels; Eva L. M. Ulenkate; Monique Van Veghel – Plandsoen; Judith M. A. Verhagen; David Vos; Erwin Wauters; Martina Wilke; Marc Sylva; Tahsin Stefan Barakat; Tjakko J. van Ham; Tjitske Kleefstra; Dmitrijs Rots; Virginie J. M. Verhoeven
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Genetic modifiers and ascertainment drive variable expressivity of complex disorders
errCell
IF42.5
err2025-10-07
err0
errOAAI
errMatthew Jensen; Corrine Smolen; Anastasia Tyryshkina; Lucilla Pizzo; Jiawan Sun; Serena Noss; Deepro Banerjee; Matthew Oetjens; Hermela Shimelis; Cora M. Taylor; Vijay Kumar Pounraja; Hyebin Song; Laura Rohan; Emily Huber; Laila El Khattabi; Ingrid van de Laar; Rafik Tadros; Connie R. Bezzina; Marjon van Slegtenhorst; Janneke Kammeraad; Paolo Prontera; Jean-Hubert Caberg; Harry Fraser; Siddharth Banka; Anke Van Dijck; Charles Schwartz; Els Voorhoeve; Patrick Callier; Anne-Laure Mosca-Boidron; Nathalie Marle; Mathilde Lefebvre; Kate Pope; Penny Snell; Amber Boys; Paul J. Lockhart; Myla Ashfaq; Elizabeth McCready; Margaret Nowacyzk; Lucia Castiglia; Ornella Galesi; Emanuela Avola; Teresa Mattina; Marco Fichera; Maria Grazia Bruccheri; Giuseppa Maria Luana Mandarà; Francesca Mari; Flavia Privitera; Ilaria Longo; Aurora Curró; Alessandra Renieri; Boris Keren; Perrine Charles; Silvestre Cuinat; Mathilde Nizon; Olivier Pichon; Claire Bénéteau; Radka Stoeva; Dominique Martin-Coignard; Sophia Blesson; Cedric Le Caignec; Sandra Mercier; Marie Vincent; Christa L. Martin; Katrin Mannik; Alexandre Reymond; Laurence Faivre; Erik Sistermans; R. Frank Kooy; David J. Amor; Corrado Romano; Joris Andrieux; Santhosh Girirajan
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Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.
err2025-09-22
err0
PREAI
errMark Drost; Jordy Dekker; Federico Ferraro; Esmee Kasteleijn; Marije Verschuren; Evelien Kroon; Hannie C.W. Douben; Inte Vogt; Leontine van Unen; Marianne Hoogeveen-Westerveld; Peter Elfferich; Rachel Schot; Camilla Calandrini; Esther Korpershoek; Frank Sleutels; Hennie B.R. Brüggenwirth; Iris R. Hollink; Lisette Meerstein-Kessel; Lies H. Hoefsloot; Marjon van Slegtenhorst; Martina Wilke; Marjolein J.A. Weerts; Rick van Minkelen; Anja Wagner; Arjan Bouman; Barbara W. van Paassen; Grazia M. Verheijen-Mancini; Ingrid M.B.H.van de Laar; J.A. Kievit; Judith M.A. Verhagen; Kyra E. Stuurman; Laura Donker Kaat; Marieke F. van Dooren; Marja W. Wessels; Rogier A. Oldenburg; Shimriet Zeidler; Tessa van Dijk; T.Stefan Barakat; Virginie J.M. Verhoeven; Yolande van Bever; Yvette van Ierland; Natalja Bannink; Silvana van Koningsbruggen; Phillis Lakeman; Lisette Leeuwen; Nienke E. Verbeek; Margje Sinnema; Malou Heijligers; Christi J. van Asperen; Jasper J. Saris; Mark Nellist; Tjakko J. van Ham
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Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
err2024-06-01
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errOAAI
errKalm, Tassja; Schob, Claudia; Voeller, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Kloeckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E. H.; van Jaarsveld, Richard H.; Oegema, Renske; van Gassen, Koen L. I.; Holwerda, Sjoerd J. B.; Barakat, Tahsin Stefan; Bouman, Arjan; Slegtenhorst, Marjon van; Alvarez, Sara; Fernandez-Jaen, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y.; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylene; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K.; Orenstein, Naama; Bernard, Genevieve; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortum, Fanny; Kubisch, Christian; Bahring, Robert; Kindler, Stefan
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Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
err2024-03-22
err0
errOAAI
errBosman, Willem; Franken, Gijs A. C.; de las Heras, Javier; Madariaga, Leire; Barakat, Tahsin Stefan; Oostenbrink, Rianne; van Slegtenhorst, Marjon; Perdomo-Ramirez, Ana; Claverie-Martin, Felix; van Eerde, Albertien M.; Vargas-Poussou, Rosa; Dubourg, Laurence Derain; Gonzalez-Recio, Irene; Martinez-Cruz, Luis Alfonso; de Baaij, Jeroen H. F.; Hoenderop, Joost G. J.
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Recruitment of trimeric eIF2 by phosphatase non-catalytic subunit PPP1R15B
err2024-02-01
err2
errOAAI
errFatalska, Agnieszka; Hodgson, George; Freund, Stefan M. V.; Maslen, Sarah L.; Morgan, Tomos; Thorkelsson, Sigurdur R.; van Slegtenhorst, Marjon; Lorenz, Sonja; Andreeva, Antonina; Kaat, Laura Donker; Bertolotti, Anne
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Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder
err2024-01-10
err2
errOAAI
errAlbuainain, Fatimah; Shi, Yuwei; Lor-Zade, Sarah; Hueffmeier, Ulrike; Pauly, Melissa; Reis, Andre; Faivre, Laurence; Maraval, Julien; Bruel, Ange-Line; Them, Frederic Tran Mau; Haack, Tobias B.; Grasshoff, Ute; Horber, Veronka; Schot, Rachel; van Slegtenhorst, Marjon; Wilke, Martina; Barakat, Tahsin Stefan
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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias (vol 25, 100927, 2023)
err2023-11-01
err1
errOAAI
errHarms, Frederike L.; Dingemans, Alexander J. M.; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Mueller, Christian; Niermeijer, Jikke-Mien F.; Fischer, Jan; Jahn, Arne; Huebner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; van der Smagt, Jasper; Ernst, Robert; van Binsbergen, Ellen; Mancini, Grazia M. S.; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Wakeling, Emma L.; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M.; de Vries, Bert B. A.; Kutsche, Kerstin
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Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
err2023-11-01
err9
PREAI
errClaus, Laura R.; Chen, Chuan; Stallworth, Jennifer; Turner, Joshua L.; Slaats, Gisela G.; Hawks, Alexandra L.; Mabillard, Holly; Senum, Sarah R.; Srikanth, Sujata; Flanagan-Steet, Heather; Louie, Raymond J.; Silver, Josh; Lerner-Ellis, Jordan; Morel, Chantal; Mighton, Chloe; Sleutels, Frank; van Slegtenhorst, Marjon; van Ham, Tjakko; Brooks, Alice S.; Dorresteijn, Eiske M.; Barakat, Tahsin Stefan; Dahan, Karin; Demoulin, Nathalie; Goffin, Eric Jean; Olinger, Eric; Larsen, Martin; Hertz, Jens Michael; Lilien, Marc R.; Obeidova, Lena; Seeman, Tomas; Stone, Hillarey K.; Kerecuk, Larissa; Gurgu, Mihai; Yengej, Fjodor A. Yousef; Ammerlaan, Carola M. E.; Rookmaaker, Maarten B.; Hanna, Christian; Rogers, R. Curtis; Duran, Karen; Peters, Edith; Sayer, John A.; van Haaften, Gijs; Harris, Peter C.; Ling, Kun; Mason, Jennifer M.; van Eerde, Albertien M.; Steet, Richard
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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
err2023-10-01
err2
PREAI
errHarms, Frederike L.; Dingemans, Alexander J. M.; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Mueller, Christian; Niermeijer, Jikke-Mien F.; Fischer, Jan; Jahn, Arne; Huebner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; Van der Smagt, Jasper; Ernst, Robert; Van Binsbergen, Ellen; Mancini, Grazia M. S.; Van Slegtenhorst, Marjon; Barakat, Tahsin S.; Wakeling, Emma L.; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M.; de Vries, Bert B. A.; Kutsche, Kerstin
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TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
errBRAIN
IF11.7
err2023-09-15
err3
PREAI
errAlmousa, Hashem; Lewis, Sara A.; Bakhtiari, Somayeh; Nordlie, Sandra Hinz; Pagnozzi, Alex; Magee, Helen; Efthymiou, Stephanie; Heim, Jennifer A.; Cornejo, Patricia; Zaki, Maha S.; Anwar, Najwa; Maqbool, Shazia; Rahman, Fatima; Neilson, Derek E.; Vemuri, Anusha; Jin, Sheng Chih; Yang, Xiao-Ru; Heidari, Abolfazl; van Gassen, Koen; Trimouille, Aurelien; Thauvin-Robinet, Christel; Liu, James; Bruel, Ange-Line; Tomoum, Hoda; Shata, Mennatallah O.; Hashem, Mais O.; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Yesil, Gozde; Lingappa, Lokesh; Baruah, Debangana; Ebrahimzadeh, Farnoosh; Van-Gils, Julien; Faivre, Laurence; Zamani, Mina; Galehdari, Hamid; Sadeghian, Saeid; Shariati, Gholamreza; Mohammad, Rahema; van der Smagt, Jasper; Qari, Alya; Vincent, John B.; Innes, A. Micheil; Dursun, Ali; Ozgul, R. Koksal; Akar, Halil Tuna; Bilguvar, Kaya; Mignot, Cyril; Keren, Boris; Raveli, Claudia; Burglen, Lydie; Afenjar, Alexandra; Kaat, Laura Donker; van Slegtenhorst, Marjon; Alkuraya, Fowzan; Houlden, Henry; Padilla-Lopez, Sergio; Maroofian, Reza; Sacher, Michael; Kruer, Michael C.
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Intrafamilial variability in SLC6A1-related neurodevelopmental disorders (vol 17, 1219262, 2023)
err2023-08-11
err0
errOAAI
errKassabian, Benedetta; Fenger, Christina Duhring; Willems, Marjolaine; Aledo-Serrano, Angel; Linnankivi, Tarja; Mcdonnell, Pamela Pojomovsky; Lusk, Laina; Jepsen, Birgit Susanne; Bayat, Michael; Kattentidt-Mouravieva, Anja A.; Vidal, Anna Abuli; Valero-Lopez, Gabriel; Alarcon-Martinez, Helena; Goodspeed, Kimberly; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Moller, Rikke S.; Johannesen, Katrine M.; Rubboli, Guido
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Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant
err2023-08-01
err3
errOAAI
errO'Neill, Matthew J.; Chen, Suet Nee; Rumping, Lynne; Johnson, Renee; van Slegtenhorst, Marjon; Glazer, Andrew M.; Yang, Tao; Solus, Joseph F.; Laudeman, Julie; Mitchell, Devyn W.; Vanags, Loren R.; Kroncke, Brett M.; Anderson, Katherine; Gao, Shanshan; Verdonschot, Job A. J.; Brunner, Han; Hellebrekers, Debby; Taylor, Matthew R. G.; Roden, Dan M.; Wessels, Marja W.; Deprez, Ronald H. Lekanne Dit; Fatkin, Diane; Mestroni, Luisa; Shoemaker, M. Benjamin
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SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission
errBRAIN
IF11.7
err2023-07-17
err6
errOAAI
errFasham, James; Huebner, Antje K.; Liebmann, Lutz; Khalaf-Nazzal, Reham; Maroofian, Reza; Kryeziu, Nderim; Wortmann, Saskia B.; Leslie, Joseph S.; Ubeyratna, Nishanka; Mancini, Grazia M. S.; van Slegtenhorst, Marjon; Wilke, Martina; Haack, Tobias B.; Shamseldin, Hanan E.; Gleeson, Joseph G.; Almuhaizea, Mohamed; Dweikat, Imad; Abu-Libdeh, Bassam; Daana, Muhannad; Zaki, Maha S.; Wakeling, Matthew N.; McGavin, Lucy; Turnpenny, Peter D.; Alkuraya, Fowzan S.; Houlden, Henry; Schlattmann, Peter; Kaila, Kai; Crosby, Andrew H.; Baple, Emma L.; Huebner, Christian A.
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EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias
err2023-07-13
err11
errOAAI
errHayesmoore, Jesse B.; Bhuiyan, Zahurul A.; Coviello, Domenico A.; du Sart, Desiree; Edwards, Matthew; Iascone, Maria; Morris-Rosendahl, Deborah J.; Sheils, Katie; van Slegtenhorst, Marjon; Thomson, Kate L.
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Intrafamilial variability in SLC6A1-related neurodevelopmental disorders
err2023-07-12
err8
errOAAI
errKassabian, Benedetta; Fenger, Christina Duhring; Willems, Marjolaine; Aledo-Serrano, Angel; Linnankivi, Tarja; McDonnell, Pamela Pojomovsky; Lusk, Laina; Jepsen, Birgit Susanne; Bayat, Michael; Kattentidt, Anja; Vidal, Anna Abuli; Valero-Lopez, Gabriel; Alarcon-Martinez, Helena; Goodspeed, Kimberly; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Moller, Rikke S.; Johannesen, Katrine M.; Rubboli, Guido
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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
err2023-04-29
err10
errOAAI
errDeng, Ruizhi; Medico-Salsench, Eva; Nikoncuk, Anita; Ramakrishnan, Reshmi; Lanko, Kristina; Kuhn, Nikolas A.; van der Linde, Herma C.; Lor-Zade, Sarah; Albuainain, Fatimah; Shi, Yuwei; Yousefi, Soheil; Capo, Ivan; van den Herik, Evita Medici; van Slegtenhorst, Marjon; van Minkelen, Rick; Geeven, Geert; Mulder, Monique T.; Ruijter, George J. G.; Luetjohann, Dieter; Jacobs, Edwin H.; Houlden, Henry; Pagnamenta, Alistair T.; Metcalfe, Kay; Jackson, Adam; Banka, Siddharth; De Simone, Lenika; Schwaede, Abigail; Kuntz, Nancy; Palculict, Timothy Blake; Abbas, Safdar; Umair, Muhammad; AlMuhaizea, Mohammed; Colak, Dilek; AlQudairy, Hanan; Alsagob, Maysoon; Pereira, Catarina; Trunzo, Roberta; Karageorgou, Vasiliki; Bertoli-Avella, Aida M.; Bauer, Peter; Bouman, Arjan; Hoefsloot, Lies H.; van Ham, Tjakko J.; Issa, Mahmoud; Zaki, Maha S.; Gleeson, Joseph G.; Willemsen, Rob; Kaya, Namik; Arold, Stefan T.; Maroofian, Reza; Sanderson, Leslie E.; Barakat, Tahsin Stefan
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Rare pathogenic variants in WNK3 cause X-linked intellectual disability
err2022-09-01
err5
errOAAI
errKury, Sebastien; Zhang, Jinwei; Besnard, Thomas; Caro-Llopis, Alfonso; Zeng, Xue; Robert, Stephanie M.; Josiah, Sunday S.; Kiziltug, Emre; Denomme-Pichon, Anne-Sophie; Cogne, Benjamin; Kundishora, Adam J.; Hao, Le T.; Li, Hong; Stevenson, Roger E.; Louie, Raymond J.; Deb, Wallid; Torti, Erin; Vignard, Virginie; McWalter, Kirsty; Raymond, F. Lucy; Rajabi, Farrah; Ranza, Emmanuelle; Grozeva, Detelina; Coury, Stephanie A.; Blanc, Xavier; Brischoux-Boucher, Elise; Keren, Boris; Ounap, Katrin; Reinson, Karit; Ilves, Pilvi; Wentzensen, Ingrid M.; Barr, Eileen E.; Guihard, Solveig Heide; Charles, Perrine; Seaby, Eleanor G.; Monaghan, Kristin G.; Rio, Marlene; van Bever, Yolande; van Slegtenhorst, Marjon; Chung, Wendy K.; Wilson, Ashley; Quinquis, Delphine; Breheret, Flora; Retterer, Kyle; Lindenbaum, Pierre; Scalais, Emmanuel; Rhodes, Lindsay; Stouffs, Katrien; Pereira, Elaine M.; Berger, Sara M.; Milla, Sarah S.; Jaykumar, Ankita B.; Cobb, Melanie H.; Panchagnula, Shreyas; Duy, Phan Q.; Vincent, Marie; Mercier, Sandra; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Audebert-Bellanger, Severine; Odent, Sylvie; Schmitt, Sebastien; Boisseau, Pierre; Bonneau, Dominique; Toutain, Annick; Colin, Estelle; Pasquier, Laurent; Redon, Richard; Bouman, Arjan; Rosenfeld, Jill A.; Friez, Michael J.; Perez-Pena, Helena; Rizvi, Syed Raza Akhtar; Haider, Shozeb; Antonarakis, Stylianos E.; Schwartz, Charles E.; Martinez, Francisco; Bezieau, Stephane; Kahle, Kristopher T.; Isidor, Bertrand
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De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
err2022-06-08
err5
errOAAI
errScala, Marcello; Drouot, Nathalie; MacLennan, Suzanna C.; Wessels, Marja W.; Krygier, Magdalena; Pavinato, Lisa; Telegrafi, Aida; de Man, Stella A.; van Slegtenhorst, Marjon; Iacomino, Michele; Madia, Francesca; Scudieri, Paolo; Uva, Paolo; Giacomini, Thea; Nobile, Giulia; Mancardi, Maria Margherita; Balagura, Ganna; Galloni, Giovanni Battista; Verrotti, Alberto; Umair, Muhammad; Khan, Amjad; Liebelt, Jan; Schmidts, Miriam; Langer, Thorsten; Brusco, Alfredo; Lipska-Zietkiewicz, Beata S.; Saris, Jasper J.; Charlet-Berguerand, Nicolas; Zara, Federico; Striano, Pasquale; Piton, Amelie
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Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
err2022-03-01
err24
errOAAI
errMarcogliese, Paul C.; Deal, Samantha L.; Andrews, Jonathan; Harnish, J. Michael; Bhavana, V. Hemanjani; Graves, Hillary K.; Jangam, Sharayu; Luo, Xi; Liu, Ning; Bei, Danqing; Yu-Hsin Chao; Hull, Brooke; Pei-Tseng Lee; Pan, Hongling; Bhadane, Pradnya; Mei-Chu Huang; Longley, Colleen M.; Hsiao-Tuan Chao; Hyung-lok Chung; Haelterman, Nele A.; Kanca, Oguz; Manivannan, Sathiya N.; Rossetti, Linda Z.; German, Ryan J.; Gerard, Amanda; Schwaibold, Eva Maria Christina; Fehr, Sarah; Guerrini, Renzo; Vetro, Annalisa; England, Eleina; Murali, Chaya N.; Barakat, Tahsin Stefan; van Dooren, Marieke F.; Wilke, Martina; van Slegtenhorst, Marjon; Lesca, Gaetan; Sabatier, Isabelle; Chatron, Nicolas; Brownstein, Catherine A.; Madden, Jill A.; Agrawal, Pankaj B.; Keren, Boris; Courtin, Thomas; Perrin, Laurence; Brugger, Melanie; Roser, Timo; Leiz, Steffen; Mau-Them, Frederic Tran; Delanne, Julian; Sukarova-Angelovska, Elena; Trajkova, Slavica; Rosenhahn, Erik; Strehlow, Vincent; Platzer, Konrad; Keller, Roberto; Pavinato, Lisa; Brusco, Alfredo; Rosenfeld, Jill A.; Marom, Ronit; Wangler, Michael F.; Yamamoto, Shinya
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