Back

dr. B.P.C. Koeleman

dr. B.P.C. Koeleman

Associate Professor

Show full profile

Research Output (296)

Identification of candidate genes for developmental colour agnosia in a single unique family

Nijboer Tanja C W, Hessel Ellen V S, van Haaften Gijs W, van Zandvoort Martine J, van der Spek Peter J, Troelstra Christine, de Kovel Carolien G F, Koeleman Bobby P C, van der Zwaag Bert, Brilstra Eva H, Burbach J Peter H Sep 2023, In: PLoS ONE. 18 17 p.

KBTBD13 is a novel cardiomyopathy gene

de Winter Josine M, Bouman Karlijn, Strom Joshua, Methawasin Mei, Jongbloed Jan D H, van der Roest Wilma, Wijngaarden Jan van, Timmermans Janneke, Nijveldt Robin, van den Heuvel Frederik, Kamsteeg Erik-Jan, van Engelen Baziel G, Galli Ricardo, Bogaards Sylvia J P, Boon Reinier A, van der Pijl Robbert J, Granzier Henk, Koeleman Bobby, Amin Ahmad S, van der Velden Jolanda, van Tintelen J Peter, van den Berg Maarten P, van Spaendonck-Zwarts Karin Y, Voermans Nicol C, Ottenheijm Coen A C 6 Nov 2022, In: Human mutation. 43 , p. 1860-1865 6 p.

Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy:A systematic review and individual participant data meta-analysis

Stevelink Remi, Al-Toma Dania, Jansen Floor E., Lamberink Herm J., Asadi-Pooya Ali A., Farazdaghi Mohsen, Cação Gonçalo, Jayalakshmi Sita, Patil Anuja, Özkara Çiğdem, Aydın Şenay, Gesche Joanna, Beier Christoph P., Stephen Linda J., Brodie Martin J., Unnithan Gopeekrishnan, Radhakrishnan Ashalatha, Höfler Julia, Trinka Eugen, Krause Roland, Irelli Emanuele Cerulli, Di Bonaventura Carlo, Szaflarski Jerzy P., Hernández-Vanegas Laura E., Moya-Alfaro Monica L., Zhang Yingying, Zhou Dong, Pietrafusa Nicola, Specchio Nicola, Japaridze Giorgi, Beniczky Sándor, Janmohamed Mubeen, Kwan Patrick, Syvertsen Marte, Selmer Kaja K., Vorderwülbecke Bernd J., Holtkamp Martin, Viswanathan Lakshminarayanapuram G., Sinha Sanjib, Baykan Betül, Altindag Ebru, von Podewils Felix, Schulz Juliane, Seneviratne Udaya, Viloria-Alebesque Alejandro, Karakis Ioannis, D'Souza Wendyl J., Koeleman Bobby P.C., Otte Willem M., Braun Kees P.J., Nov 2022, In: EClinicalMedicine. 53

Genetic and Functional Differences between Duplicated Zebrafish Genes for Human SCN1A

Weuring Wout J., Hoekman Jos W., Braun Kees P.J., Koeleman Bobby P.C. 1 Feb 2022, In: Cells. 11 , p. 1-8

CRISPRa-Mediated Upregulation of scn1laa during Early Development Causes Epileptiform Activity and dCas9-Associated Toxicity

Weuring Wout J., Dilevska Ivana, Hoekman Jos, Van De Vondervoort Joep, Koetsier Martijn, Van 'T Slot Ruben H., Braun Kees P.J., Koeleman Bobby P.C. Aug 2021, In: CRISPR Journal. 4 , p. 575-582 8 p.

Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations

Stevelink Remi, Luykx Jurjen J., Lin Bochao D., Leu Costin, Lal Dennis, Smith Alexander W., Schijven Dick, Carpay Johannes A., Rademaker Koen, Rodrigues Baldez Roiza A., Devinsky Orrin, Braun Kees P.J., Jansen Floor E., Smit Dirk J.A., Koeleman Bobby P.C., , Jul 2021, In: Epilepsia. 62 , p. 1518-1527 10 p.

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

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, Almanza Fuerte Edith P, Andrade Danielle M, Balcik Yunus, Ben Zeev Bruria, Bennett Mark F, Berkovic Samuel F, Isidor Bertrand, Bouman Arjan, Brilstra Eva, Busk Øyvind 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, Küry Sébastien, Lesca Gaetan, Lev Dorit, Leventer Richard J, Mackay Mark T, Macke Erica L, McEntagart Meriel, Mohammad Shekeeb S, Monin Pauline, Verbeek Nienke, Feb 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23 , p. 363-373 11 p.

GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families:A possible gradient in severity?

Benova Barbora, Sanders Maurits W.C.B., Uhrova-Meszarosova Anna, Belohlavkova Anezka, Hermanovska Barbora, Novak Vilem, Stanek David, Vlckova Marketa, Zamecnik Josef, Aronica Eleonora, Braun Kees P.J., Koeleman Bobby P.C., Jansen Floor E., Krsek Pavel Jan 2021, In: European Journal of Paediatric Neurology. 30 , p. 88-96 9 p.

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

Carvill Gemma L, Helbig Katherine L, Myers Candace T, Scala Marcello, Huether Robert, Lewis Sara, Kruer Tyler N, Guida Brandon S, Bakhtiari Somayeh, Sebe Joy, Tang Sha, Stickney Heather, Oktay Sehribani Ulusoy, Bhandiwad Ashwin A, Ramsey Keri, Narayanan Vinodh, Feyma Timothy, Rohena Luis O, Accogli Andrea, Severino Mariasavina, Hollingsworth Georgina, Gill Deepak, Depienne Christel, Nava Caroline, Sadleir Lynette G, Caruso Paul A, Lin Angela E, Jansen Floor E, Koeleman Bobby, Brilstra Eva, Willemsen Marjolein H, Kleefstra Tjitske, Sa Joaquim, Mathieu Marie-Laure, Perrin Laurine, Lesca Gaetan, Striano Pasquale, Casari Giorgio, Scheffer Ingrid E, Raible David, Sattlegger Evelyn, Capra Valeria, Padilla-Lopez Sergio, Mefford Heather C, Kruer Michael C Jul 2020, In: Human mutation. 41 , p. 1263-1279 17 p.

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

Singh Sakshi, Gupta Aditi, Zech Michael, Sigafoos Ashley N, Clark Karl J, Dincer Yasemin, Wagner Matias, Humberson Jennifer B, Green Sarah, van Gassen Koen, Brandt Tracy, Schnur Rhonda E, Millan Francisca, Si Yue, Mall Volker, Winkelmann Juliane, Gavrilova Ralitza H, Klee Eric W, Engleman Kendra, Safina Nicole P, Slaugh Rachel, Bryant Emily M, Tan Wen-Hann, Granadillo Jorge, Misra Sunita N, Schaefer G Bradley, Towner Shelley, Brilstra Eva H, Koeleman Bobby P C 5 May 2020, In: Genetics in medicine : official journal of the American College of Medical Genetics. 22 , p. 1413-1417 5 p.

Thank you for your review!

Has this information helped you?

Please tell us why, so that we can improve our website.

Working at UMC Utrecht

Contact

Emergency?

Directions

Appointments

Practical

umcutrecht.nl uses cookies

This website uses cookies This website displays videos from, among others, YouTube. Such parties place cookies (third-party cookies). If you do not want these cookies, you can indicate that here. We also place cookies ourselves to improve our site.

Read more about the cookie policy

Agree No, rather not