Helenius J. Schelhaas - Publications, H-index & Citations

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Helenius J. Schelhaas

department of neurology

55H-index

152Paper Count

9.1KCitation Count

Published Papers 70

Publication Date

Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

Molecular Psychiatry

IF10.1

2026-01-07

OAAI

Johannes R. Lemke; Andrea Eoli; Ilona Krey; Bernt Popp; Vincent Strehlow; Dirk A. Wittekind; Anna-Leena Vuorinen; Hesham M. Aldhalaan; Sarah Baer; Anne de Saint Martin; Trine B. Hammer; Isabella Herman; Frauke Hornemann; Trine Ingebrigtsen; Damien Lederer; Gaetan Lesca; Dana Marafie; Mikael Mathot; Jill A. Rosenfeld; Rikke S. Møller; Helenius J. Schelhaas; Chelsey Stillman; Alessandro Orsini; Anup D. Patel; Juliette Piard; Pierangelo Veggiotti; Danique R. M. Vlaskamp; Sarah Weckhuysen; Stephen F. Traynelis; Tim A. Benke; Henrike O. Heyne; Steffen Syrbe

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GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

Molecular Psychiatry

IF10.1

2025-10-14

OAAI

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Psychogenic non-epileptic (functional) seizures in adults with intellectual disability and epilepsy: A matched case-control study

EPILEPSIA

IF6.6

2024-08-09

PREAI

Kloosterman, Iris E. M.; Haenen, Alexandra I.; Poortvliet-Koedam, Esther L. G. E.; Lazeron, Richard H. C.; Schelhaas, Helenius J.; van Ool, Jans S.

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Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants

EPILEPSIA

IF6.6

2024-07-02

PREAI

Cuccurullo, Claudia; Irelli, Emanuele Cerulli; Ugga, Lorenzo; Riva, Antonella; D'Amico, Alessandra; Cabet, Sara; Lesca, Gaetan; Bilo, Leonilda; Zara, Federico; Iliescu, Catrinel; Barca, Diana; Fung, France; Helbig, Katherine; Ortiz-Gonzalez, Xilma; Schelhaas, Helenius J.; Willemsen, Marjolein H.; van der Linden, Inge; Canafoglia, Laura; Courage, Carolina; Gommaraschi, Samuele; Gonzalez-Alegre, Pedro; Bardakjian, Tanya; Syrbe, Steffen; Schuler, Elisabeth; Lemke, Johannes R.; Vari, Stella; Roende, Gitte; Bak, Mads; Huq, Mahbulul; Powis, Zoe; Johannesen, Katrine M.; Hammer, Trine Bjorg; Moller, Rikke S.; Rabin, Rachel; Pappas, John; Zupanc, Mary L.; Zadeh, Neda; Cohen, Julie; Naidu, Sakkubai; Krey, Ilona; Saneto, Russell; Thies, Jenny; Licchetta, Laura; Tinuper, Paolo; Bisulli, Francesca; Minardi, Raffaella; Bayat, Allan; Villeneuve, Nathalie; Molinari, Florence; Dafsari, Hormos Salimi; Moller, Birk; Le Roux, Marie; Houdayer, Clara; Vecchi, Marilena; Mammi, Isabella; Fiorini, Elena; Proietti, Jacopo; Ferri, Sofia; Cantalupo, Gaetano; Battaglia, Domenica Immacolata; Gambardella, Maria Luigia; Contaldo, Ilaria; Brogna, Claudia; Trivisano, Marina; De Dominicis, Angela; Bova, Stefania Maria; Gardella, Elena; Striano, Pasquale; Coppola, Antonietta

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SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes

BRAIN

IF11.7

2023-07-19

OAAI

van Hugte, Eline J. H.; Lewerissa, Elly, I; Wu, Ka Man; Scheefhals, Nicky; Parodi, Giulia; van Voorst, Torben W.; Puvogel, Sofia; Kogo, Naoki; Keller, Jason M.; Frega, Monica; Schubert, Dirk; Schelhaas, Helenius J.; Verhoeven, Judith; Majoie, Marian; van Bokhoven, Hans; Nadif Kasri, Nael

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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

GENETICS IN MEDICINE

IF6.2

2021-02-01

OAAI

Stamberger, Hannah; Hammer, Trine B.; Gardella, Elena; Vlaskamp, Danique R. M.; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T.; Fenger, Christina; Afawi, Zaid; Fuerte, Edith P. Almanza; Andrade, Danielle M.; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F.; Berkovic, Samuel F.; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Oyvind L.; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C.; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R.; Hildebrand, Michael S.; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W.; Koeleman, Bobby P. C.; Koolen, David A.; Korff, Christian; Kury, Sebastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J.; Mackay, Mark T.; Macke, Erica L.; McEntagart, Meriel; Mohammad, Shekeeb S.; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M.; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S.; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G.; Sadoway, Tara; Schelhaas, Helenius J.; Schneider, Amy L.; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M.; Smol, Thomas; Stumpel, Connie T. R. M.; Stuurman, Kyra; Symonds, Joseph D.; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S.; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A.; Zerem, Ayelet; Zuberi, Sameer M.; Guerrini, Renzo; Mefford, Heather C.; Patel, Chirag; Zhang, Yue-Hua; Moller, Rikke S.; Scheffer, Ingrid E.

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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias (vol 103, pg 666, 2018)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-03-01

OAAI

Helbig, Katherine L.; Lauerer, Robert J.; Bahr, Jacqueline C.; Souza, Ivana A.; Myers, Candace T.; Uysal, Betul; Schwarz, Niklas; Gandini, Maria A.; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; de Villemeur, Thierry Billette; Heron, Delphine; Nava, Caroline; Valence, Stephanie; Buratti, Julien; Fagerberg, Christina R.; Soerensen, Kristina P.; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A.; Gunning, Boudewijn; Schelhaas, H. Jurgen; Kruer, Michael C.; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xing, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C.; Klee, Eric W.; Tillema, Jan-Mendelt; Payne, Eric T.; Cousin, Margot A.; Kruisselbrink, Teresa M.; Wick, Myra J.; Baker, Joshua; Haan, Eric; Smith, Nicholas; Sadeghpour, Azita; Davis, Erica E.; Katsanis, Nicholas; Corbett, Mark A.; MacLennan, Alastair H.; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H.; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E.; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D.; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D.; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie C.; Nolan, Melinda A.; Snell, Russell G.; Lehnert, Klaus; Sadleir, Lynette G.; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael J.; Lyons, Michael J.; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle M.; Smith, Lacey A.; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren J.; Rankin, Julia; Zeman, Adam; Raymond, F. Lucy; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike B. S.; Scheffer, Ingrid E.; Helbig, Ingo; Zamponi, Gerald W.; Lerche, Holger; Mefford, Heather C.

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Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

EPILEPSIA

IF6.6

2018-12-07

OAAI

Snoeijen-Schouwenaars, Francesca M.; van Ool, Jans S.; Verhoeven, Judith S.; van Mierlo, Petra; Braakman, Hilde M. H.; Smeets, Eric E.; Nicolai, Joost; Schoots, Jeroen; Teunissen, Mariel W. A.; Rouhl, Rob P. W.; Tan, In Y.; Yntema, Helger G.; Brunner, Han G.; Pfundt, Rolph; Stegmann, Alexander P.; Kamsteeg, Erik-Jan; Schelhaas, Helenius J.; Willemsen, Marjolein H.

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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2018-11-01

OAAI

Helbig, Katherine L.; Lauerer, Robert J.; Bahr, Jacqueline C.; Souza, Ivana A.; Myers, Candace T.; Uysal, Betuel; Schwarz, Niklas; Gandini, Maria A.; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; de Villemeur, Thierry Billette; Heron, Delphine; Nava, Caroline; Valence, Stephanie; Buratti, Julien; Fagerberg, Christina R.; Soerensen, Kristina P.; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A.; Gunning, Boudewijn; Schelhaas, H. Jurgen; Kruer, Michael C.; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xin, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C.; Klee, Eric W.; Tillema, Jan-Mendelt; Payne, Eric T.; Cousin, Margot A.; Kruisselbrink, Teresa M.; Wick, Myra J.; Baker, Joshua; Haan, Eric; Smith, Nicholas; Corbett, Mark A.; MacLennan, Alastair H.; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H.; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E.; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D.; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D.; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie C.; Nolan, Melinda A.; Snell, Russell G.; Lehnert, Klaus; Sadleir, Lynette G.; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael J.; Lyons, Michael J.; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle M.; Smith, Lacey A.; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren J.; Rankin, Julia; Zeman, Adam; Raymond, F. Lucy; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike B. S.; Scheffer, Ingrid E.; Helbig, Ingo; Zamponi, Gerald W.; Lerche, Holger; Mefford, Heather C.

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Defining the phenotypic spectrum of SLC6A1 mutations

EPILEPSIA

IF6.6

2018-01-08

102

OAAI

Johannesen, Katrine M.; Gardella, Elena; Linnankivi, Tarja; Courage, Carolina; de Saint Martin, Anne; Lehesjoki, Anna-Elina; Mignot, Cyril; Afenjar, Alexandra; Lesca, Gaetan; Abi-Warde, Marie-Therese; Chelly, Jamel; Piton, Amelie; Merritt, J. Lawrence, II; Rodan, Lance H.; Tan, Wen-Hann; Bird, Lynne M.; Nespeca, Mark; Gleeson, Joseph G.; Yoo, Yongjin; Choi, Murim; Chae, Jong-Hee; Czapansky-Beilman, Desiree; Reichert, Sara Chadwick; Pendziwiat, Manuela; Verhoeven, Judith S.; Schelhaas, Helenius J.; Devinsky, Orrin; Christensen, Jakob; Specchio, Nicola; Trivisano, Marina; Weber, Yvonne G.; Nava, Caroline; Keren, Boris; Doummar, Diane; Schaefer, Elise; Hopkins, Sarah; Dubbs, Holly; Shaw, Jessica E.; Pisani, Laura; Myers, Candace T.; Tang, Sha; Tang, Shan; Pal, Deb K.; Millichap, John J.; Carvill, Gemma L.; Helbig, Kathrine L.; Mecarelli, Oriano; Striano, Pasquale; Helbig, Ingo; Rubboli, Guido; Mefford, Heather C.; Moller, Rikke S.

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Paroxysmal sensory (spinal) attacks without hyperexplexia in a patient with a variant in the GLRA1 gene

JOURNAL OF THE NEUROLOGICAL SCIENCES

IF3.2

2017-07-01

PREAI

Zwarts, M. J.; Willemsen, M. H.; Kamsteeg, E. -J.; Schelhaas, H. J.

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Tau Rather than TDP-43 Proteins are Potential Cerebrospinal Fluid Biomarkers for Frontotemporal Lobar Degeneration Subtypes: A Pilot Study

JOURNAL OF ALZHEIMERS DISEASE

IF3.1

2016-11-19

PREAI

Kuiperij, H. Bea; Versleijen, Alexandra A. M.; Beenes, Marijke; Verwey, Nicolaas A.; Benussi, Luisa; Paterlini, Anna; Binetti, Giuliano; Teunissen, Charlotte E.; Raaphorst, Joost; Schelhaas, Helenius J.; Kusters, Benno; Pijnenburg, Yolande A. L.; Ghidoni, Roberta; Verbeek, Marcel M.

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Evaluating the care of a multidisciplinary clinic by using the White Paper Listening for a change: Medical and social needs of people with intellectual disability who have epilepsy

EPILEPSIA

IF6.6

2015-09-04

OAAI

van der Linden, Petronella F. S.; Tan, In Y.; van Erp, M. Gerard; van Blarikom, Willeke; Schelhaas, H. Jurgen; Majoie, Marian H. J. M.

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Recruitment of patients with both epilepsy and intellectual disability

EPILEPSIA

IF6.6

2015-04-13

OAAI

van Mierlo, Petra; Snoeijen-Schouwenaars, Francesca M.; Veendrick, Monique J. B. M.; Tan, In Y.; Willemsen, Marjolein H.; Schelhaas, H. Jurgen; Kleine, Bert U.

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First patho-anatomical investigation of the brain of a SCA19 patient

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

IF3.4

2014-07-01

PREAI

Seidel, K.; Kusters, B.; den Dunnen, W. F. A.; Bouzrou, M.; Hageman, G.; Korf, H. -W.; Schelhaas, H. J.; Verbeek, D.; Rueb, U.

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Serum angiogenin levels are elevated in ALS, but not Parkinson's disease

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

IF7.5

2014-05-29

OAAI

van Es, Michael A.; Veldink, Jan H.; Schelhaas, Helenius J.; Bloem, Bastiaan R.; Sodaar, Peter; van Nuenen, Bart F. L.; Verbeek, Marcel; van de Warrenburg, Bart P.; van den Berg, Leonard H.

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Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2013-06-01

147

OAAI

Neveling, Kornelia; Martinez-Carrera, Lilian A.; Hoelker, Irmgard; Heister, Angelien; Verrips, Aad; Hosseini-Barkooie, Seyyed Mohsen; Gilissen, Christian; Vermeer, Sascha; Pennings, Maartje; Meijer, Rowdy; te Riele, Margot; Frijns, Catharina J. M.; Suchowersky, Oksana; MacLaren, Linda; Rudnik-Schoeneborn, Sabine; Sinke, Richard J.; Zerres, Klaus; Lowry, R. Brian; Lemmink, Henny H.; Garbes, Lutz; Veltman, Joris A.; Schelhaas, Helenius J.; Scheffer, Hans; Wirth, Brunhilde

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H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

NEUROBIOLOGY OF AGING

IF3.5

2013-05-01

OAAI

van Rheenen, Wouter; Diekstra, Frank P.; van Doormaal, Perry T. C.; Seelen, Meinie; Kenna, Kevin; McLaughlin, Russell; Shatunov, Aleksey; Czell, David; van Es, Michael A.; van Vught, Paul W. J.; van Damme, Philip; Smith, Bradley N.; Waibel, Stefan; Schelhaas, H. Jurgen; van der Kooi, Anneke J.; de Visser, Marianne; Weber, Markus; Robberecht, Wim; Hardiman, Orla; Shawi, Pamela J.; Shaw, Christopher E.; Morrison, Karen E.; Al-Chalabi, Ammar; Andersen, Peter M.; Ludolph, Albert C.; Veldink, Jan H.; van den Berg, Leonard H.

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Autoantibodies to cytosolic 5′-nucleotidase 1A in inclusion body myositis

ANNALS OF NEUROLOGY

IF7.7

2013-03-04

174

PREAI

Pluk, Helma; van Hoeve, Bas J. A.; van Dooren, Sander H. J.; Stammen-Vogelzangs, Judith; van der Heijden, Annemarie; Schelhaas, Helenius J.; Verbeek, Marcel M.; Badrising, Umesh A.; Arnardottir, Snjolaug; Gheorghe, Karina; Lundberg, Ingrid E.; Boelens, Wilbert C.; van Engelen, Baziel G.; Pruijn, Ger J. M.

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Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2013-02-27

OAAI

de Bot, Susanne T.; Burggraaff, Rogier C.; Herkert, Johanna C.; Schelhaas, Helenius J.; Post, Bart; Diekstra, Adinda; van Vliet, Reinout O.; van der Knaap, Marjo S.; Kamsteeg, Erik-Jan; Scheffer, Hans; van de Warrenburg, Bart P.; Verschuuren-Bemelmans, Corien C.; Kremer, Hubertus P. H.

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Research Directions