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E

Erik‐Jan Kamsteeg

radboud university medical center

49H-index
231Paper Count
8.9KCitation Count
Published Papers 110
Publication Date
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Corrigendum to ‘European Malignant Hyperthermia Group 2025 guidelines for the investigation of malignant hyperthermia susceptibility’ (Br J Anaesth 2026; 136: 653-661)
errBritish Journal of Anaesthesia
IF9.2
err2026-08-19
err0
PREAI
errHenrik Rüffert; Robyn Gillies; Philip M. Hopkins; Klaus P.E. Glahn; Stephan Johannsen; Erik-Jan Kamsteeg; Anna Hellblom; Kathryn Stowell; Jonathan Bilmen; Martina Klincova; Thierry Girard
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Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases
errEuropean Journal of Human Genetics
IF4.6
err2026-07-28
err0
errOAAI
errAleš Maver; Katja Lohmann; Lena-Marie Urbanczyk; Astri Arnesen; Ivo Barić; Peter Bauer; Kailash P. Bhatia; Sylvia Boesch; Fran Borovečki; Norbert Brüggemann; Zih-Hua Fang; Heinz Gabriel; Tobias B. Haack; Henry Houlden; Milena Janković; Erik-Jan Kamsteeg; Michelangelo Mancuso; Deborah Mascalzoni; Maria Judit Molnar; Alexander Münchau; Kornelia Neveling; Ivana Novaković; Borut Peterlin; Ludger Schols; Nika Schuermans; Katie Shiels; Marc Sturm; Rachel Taylor; Marina A. J. Tijssen; Lisenka E. L. M. Vissers; Victoria Williams; Holm Graessner
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Reply to: residual risk after familial RYR1 testing: interpreting malignant hyperthermia susceptibility in the context of regional testing strategies
errEuropean Journal of Human Genetics
IF4.6
err2026-06-19
err0
PREAI
errRachel L. Robinson; Thatjana Gardeitchik; Meyke I. Schouten; Heinz Jungbluth; Nicol C. Voermans; Kathryn Stowell; Phil M. Hopkins; Thierry Girard; Weronika Gutowska-Ding; Katie Sheils; Erik-Jan Kamsteeg
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EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disorders
errEuropean Journal of Human Genetics
IF4.6
err2026-05-12
err0
errOAAI
errRachel L. Robinson; Thatjana Gardeitchik; Meyke I. Schouten; Heinz Jungbluth; Nicol C. Voermans; Kathryn Stowell; Phil M. Hopkins; Thierry Girard; Weronika Gutowska-Ding; Katie Sheils; Erik-Jan Kamsteeg
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European Malignant Hyperthermia Group 2025 guidelines for the investigation of malignant hyperthermia susceptibility
errBritish Journal of Anaesthesia
IF9.2
err2026-01-01
err0
PREAI
errHenrik Rüffert; Robyn Gillies; Philip M. Hopkins; Klaus P.E. Glahn; Stephan Johannsen; Erik-Jan Kamsteeg; Anna Hellblom; Kathryn Stowell; Jonathan Bilmen; Martina Klincova; Thierry Girard
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errSave
Interrupted CTG repeats in the 37–43 units size range in the 3ʹUTR of DMPK are common alleles
errEuropean Journal of Human Genetics
IF4.6
err2025-07-08
err0
errOAAI
errHilde Swinkels; Maike Leferink; Maartje Pennings; Bart van der Sanden; Christian Gilissen; Jordi Corominas Galbany; Erik-Jan Kamsteeg
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Pathogenicity assessment of seven RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia in the Netherlands
errBritish Journal of Anaesthesia
IF9.2
err2025-01-30
err0
errOAAI
errLuuk R. van den Bersselaar; Anja H. Schiemann; Chu-Ya Yang; Nicol C. Voermans; Ignacio Malagon; Gert-Jan Scheffer; Andrew R. Bjorksten; Robyn Gillies; Anna Hellblom; Erik-Jan Kamsteeg; Marc M.J. Snoeck; Kathryn M. Stowell
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Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
errANNALS OF NEUROLOGY
IF7.7
err2025-01-24
err0
errOAAI
errCoppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S.; Griffin, Kaitlyn R.; Jones, Kristi J.; Vilain, Catheline N.; Kadhim, Hazim; Bryen, Samantha J.; Faiz, Fathimath; Waddell, Leigh B.; Evesson, Frances J.; Bakshi, Madhura; Pinner, Jason R.; Charlton, Amanda; Brammah, Susan; Graf, Nicole S.; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C.; Illingworth, Marjorie A.; Thomas, Neil H.; Ellard, Sian; Mazanti, Ingrid; Park, Soo-Mi; French, Courtney E.; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M.; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J.; Splitt, Miranda P.; Moldovan, Corina; de Silva, Deepthi C.; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T.; Laing, Nigel G.; Raymond, F. Lucy; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Manzur, Adnan; Corley, Susan M.; Ravenscroft, Gianina; Wilkins, Marc R.; Cowley, Mark J.; Pinese, Mark; Phadke, Rahul; Davis, Mark R.; Muntoni, Francesco; Oates, Emily C.
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Delayed Progression of Ataxia with a Static Cerebellar Lesion- Consider SCA27B
errCEREBELLUM
IF2.4
err2025-01-16
err0
errOAAI
errWong, Tsz Hang; Manuputty, Jamie; van Seeters, Tom; Kamsteeg, Erik-Jan; van de Warrenburg, Bart
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Nemaline Myopathy Type 6 Caused by Variants in the KBTBD13 Gene
errNEUROLOGY-GENETICS
IF3.7
err2024-12-01
err1
PREAI
errvan Kleef, Esmee S. B.; Bouman, Karlijn; Molenaar, Joery P. F.; Kusters, Benno; Groothuis, Jan T.; Olive, Montse; Malfatti, Edoardo; Kamsteeg, Erik-Jan; Van Engelen, Baziel G. M.; Ottenheijm, Coen A. C.; Doorduin, Jonne; Voermans, Nicol C.
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Multisample motif discovery and visualization for tandem repeats
errGENOME RESEARCH
IF5.5
err2024-11-13
err1
errOAAI
errZhang, Yaran; Hulsman, Marc; Salazar, Alex; Tesi, Niccolo; Knoop, Lydian; van der Lee, Sven; Wijesekera, Sanduni; Krizova, Jana; Kamsteeg, Erik-Jan
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Characterizing tandem repeat complexities across long-read sequencing platforms with TREAT and otter
errGENOME RESEARCH
IF5.5
err2024-10-15
err0
errOAAI
errTesi, Niccolo; Salazar, Alex; Zhang, Yaran; van der Lee, Sven; Hulsman, Marc; Knoop, Lydian; Wijesekera, Sanduni; Krizova, Jana; Schneider, Anne-Fleur; Pennings, Maartje; Sleegers, Kristel; Kamsteeg, Erik-Jan; Reinders, Marcel; Holstege, Henne
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Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-09-27
err2
PREAI
errSchobers, Gaby; Pennings, Maartje; de Vries, Juliette; Kwint, Michael; van Reeuwijk, Jeroen; Galbany, Jordi Corominas; van Beek, Ronald; Kamping, Eveline; Timmermans, Raoul; Kamsteeg, Erik-Jan; Haer-Wigman, Lonneke; Cremers, Frans P. M.; Roosing, Susanne; Gilissen, Christian; Kremer, Hannie; Brunner, Han G.; Yntema, Helger G.; Vissers, Lisenka E. L. M.
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Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release
errSCIENCE ADVANCES
IF12.5
err2024-07-12
err0
errOAAI
errFruh, Simon; Boudkkazi, Sami; Koppensteiner, Peter; Sereikaite, Vita; Chen, Li-Yuan; Fernandez-Fernandez, Diego; Rem, Pascal D.; Ulrich, Daniel; Schwenk, Jochen; Chen, Ziyang; Le Monnier, Elodie; Fritzius, Thorsten; Innocenti, Sabrina M.; Besseyrias, Valerie; Trovo, Luca; Stawarski, Michal; Argilli, Emanuela; Sherr, Elliott H.; van Bon, Bregje; Kamsteeg, Erik-Jan; Iascone, Maria; Pilotta, Alba; Cutri, Maria R.; Azamian, Mahshid S.; Hernandez-Garcia, Andres; Lalani, Seema R.; Rosenfeld, Jill A.; Zhao, Xiaonan; Vogel, Tiphanie P.; Ona, Herda; Scott, Daryl A.; Scheiffele, Peter; Stromgaard, Kristian; Tafti, Mehdi; Gassmann, Martin; Fakler, Bernd; Shigemoto, Ryuichi; Bettler, Bernhard
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A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder
errMOVEMENT DISORDERS
IF7.6
err2024-07-07
err1
errOAAI
errvan Prooije, Teije H.; Pennings, Maartje; Dorresteijn, Lucille; Gardeitchik, Thatjana; Odekerken, Vincent J. J.; Oosterloo, Mayke; Pedersen, Annie; Verschuuren-Bemelmans, Corien C.; Vrancken, Alexander; Kamsteeg, Erik-Jan; van de Warrenburg, Bart P. C.
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The expanding clinical and genetic spectrum of DYNC1H1-related disorders
errBRAIN
IF11.7
err2024-06-08
err0
errOAAI
errMoeller, Birk; Becker, Lena-Luise; Saffari, Afshin; Afenjar, Alexandra; Coci, Emanuele G.; Williamson, Rachel; Ward-Melver, Catherine; Gibaud, Marc; Sedlackova, Lucie; Lassuthova, Petra; Liba, Zuzana; Vlckova, Marketa; William, Nancy; Klee, Eric W.; Gavrilova, Ralitza H.; Levy, Jonathan; Capri, Yline; Scavina, Mena; Koerner, Robert Walter; Valivullah, Zaheer; Weiss, Claudia; Moeller, Greta Marit; Frazier, Zoe; Roberts, Amy; Gener, Blanca; Scala, Marcello; Striano, Pasquale; Zara, Federico; Thiel, Moritz; Sinnema, Margje; Kamsteeg, Erik-Jan; Donkervoort, Sandra; Duboc, Veronique; Zaafrane-Khachnaoui, Khaoula; Elkhateeb, Nour; Selim, Laila; Margot, Henri; Marin, Victor; Beneteau, Claire; Isidor, Bertrand; Cogne, Benjamin; Keren, Boris; Kuesters, Benno; Beggs, Alan H.; Sveden, Abigail; Chopra, Maya; Genetti, Casie A.; Nicolai, Joost; Doetsch, Joerg; Koy, Anne; Boennemann, Carsten G.; von der Hagen, Maja; von Kleist-Retzow, Juergen-Christoph; Voermans, Nicol C.; Jungbluth, Heinz; Dafsari, Hormos Salimi
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Brody Disease, an Early-Onset Myopathy With Delayed Relaxation and Abnormal Gait
errNEUROLOGY
IF8.5
err2024-03-12
err0
PREAI
errVerhoeven, Jamie I.; Kramer, Jasper; Seeger, Juergen; Molenaar, Joery P.; Braakman, Hilde; Kamsteeg, Erik-Jan; Rodenburg, Richard J.; Kusters, Benno; Koudijs, Suzanne; Van Engelen, Baziel G.; Erasmus, Corrie E.; Voermans, Nicol C.
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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
errNATURE GENETICS
IF31.8
err2024-03-01
err7
errOAAI
errToepf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Boennemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; van den Bergh, Peter; Vannoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; Macarthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
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The FGF14 gene is a milestone in ataxia genetics
errEBIOMEDICINE
IF10.8
err2024-02-01
err0
errOAAI
errvan de Warrenburg, Bart P.; Kamsteeg, Erik-Jan
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Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples (Oct, 10.1038/s41431-023-01478-7, 2023)
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-11-16
err14
errOAAI
errWijngaard, Robin; Demidov, German; O'Gorman, Luke; Corominas-Galbany, Jordi; Yaldiz, Burcu; Steyaert, Wouter; de Boer, Elke; Vissers, Lisenka E. L. M.; Kamsteeg, Erik-Jan; Pfundt, Rolph; Swinkels, Hilde; den Ouden, Amber; te Paske, Iris B. A. W.; de Voer, Richarda M.; Faivre, Laurence; Denomme-Pichon, Anne-Sophie; Duffourd, Yannis; Vitobello, Antonio; Chevarin, Martin; Straub, Volker; Topf, Ana; van der Kooi, Anneke J.; Magrinelli, Francesca; Rocca, Clarissa; Hanna, Michael G.; Vandrovcova, Jana; Ossowski, Stephan; Laurie, Steven; Gilissen, Christian
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Research Directions

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Co-authors
Cooperation Journals
G
Guy A. Rouleau
H-index: 146 · Papers: 1.3K
J
John S. Duncan
H-index: 144 · Papers: 1.7K
I
Ingrid E. Scheffer
H-index: 141 · Papers: 1.0K
N
Nicholas Wood
H-index: 139 · Papers: 1.1W
P
Perry Elliott
H-index: 137 · Papers: 1.0K
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