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dr. R. (Renske) Oegema MSc

dr. R. (Renske) Oegema MSc

Assistant Professor - medical
dr. R. (Renske) Oegema MSc
  • Section Clinical Genetics

Research Programs

Research Output (31)

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.

Schwarz Niklas, Seiffert Simone, Pendziwiat Manuela, Rademacher Annika Verena, Brà Nger Tobias, Hedrich Ulrike B S, Augustijn Paul B, Baier Hartmut, Bayat Allan, Bisulli Francesca, Buono Russell J, Bruria Ben Zeev, Doyle Michael G, Guerrini Renzo, Heimer Gali, Iacomino Michele, Kearney Hugh, Klein Karl Martin, Kousiappa Ioanna, Kunz Wolfram S, Lerche Holger, Licchetta Laura, Lohmann Ebba, Minardi Raffaella, McDonald Marie, Montgomery Sarah, Mulahasanovic Leijla, Oegema Renske, Ortal Barel, Papacostas Savvas S, Ragona Francesca, Granata Tiziana, Reif Phillip S, Rosenow Felix, Rothschild Annick, Scudieri Paolo, Striano Pasquale, Tinuper Paolo, Tanteles George A, Vetro Annalisa, Zahnert Felix, Goldberg Ethan M, Zara Federico, Lal Dennis, May Patrick, Muhle Hiltrud, Helbig Ingo, Weber Yvonne 21 Mar 2022, In: Neurology. 98 , p. e2046-e2059

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Levy Michael A, McConkey Haley, Kerkhof Jennifer, Barat-Houari Mouna, Bargiacchi Sara, Biamino Elisa, Bralo María Palomares, Cappuccio Gerarda, Ciolfi Andrea, Clarke Angus, DuPont Barbara R, Elting Mariet W, Faivre Laurence, Fee Timothy, Fletcher Robin S, Cherik Florian, Foroutan Aidin, Friez Michael J, Gervasini Cristina, Haghshenas Sadegheh, Hilton Benjamin A, Jenkins Zandra, Kaur Simranpreet, Lewis Suzanne, Louie Raymond J, Maitz Silvia, Milani Donatella, Morgan Angela T, Oegema Renske, Østergaard Elsebet, Pallares Nathalie Ruiz, Piccione Maria, Pizzi Simone, Plomp Astrid S, Poulton Cathryn, Reilly Jack, Relator Raissa, Rius Rocio, Robertson Stephen, Rooney Kathleen, Rousseau Justine, Santen Gijs W E, Santos-Simarro Fernando, Schijns Josephine, Squeo Gabriella Maria, St John Miya, Thauvin-Robinet Christel, Traficante Giovanna, van der Sluijs Pleuntje J, Vergano Samantha A, 13 Jan 2022, In: HGG advances. 3 , p. 1-18

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

Levy Michael A, Beck David B, Metcalfe Kay, Douzgou Sofia, Sithambaram Sivagamy, Cottrell Trudie, Ansar Muhammad, Kerkhof Jennifer, Mignot Cyril, Nougues Marie-Christine, Keren Boris, Moore Hannah W, Oegema Renske, Giltay Jacques C, Simon Marleen, van Jaarsveld Richard H, Bos Jessica, van Haelst Mieke, Motazacker M Mahdi, Boon Elles M J, Santen Gijs W E, Ruivenkamp Claudia A L, Alders Marielle, Luperchio Teresa Romeo, Boukas Leandros, Ramsey Keri, Narayanan Vinodh, Schaefer G Bradley, Bonasio Roberto, Doheny Kimberly F, Stevenson Roger E, Banka Sidharth, Sadikovic Bekim, Fahrner Jill A Dec 2021, In: npj Genomic Medicine. 6 , p. 1-15

Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

Levy Michael A, Beck David B, Metcalfe Kay, Douzgou Sofia, Sithambaram Sivagamy, Cottrell Trudie, Ansar Muhammad, Kerkhof Jennifer, Mignot Cyril, Nougues Marie-Christine, Keren Boris, Moore Hannah W, Oegema Renske, Giltay Jacques C, Simon Marleen, van Jaarsveld Richard H, Bos Jessica, van Haelst Mieke, Motazacker M Mahdi, Boon Elles M J, Santen Gijs W E, Ruivenkamp Claudia A L, Alders Marielle, Luperchio Teresa Romeo, Boukas Leandros, Ramsey Keri, Narayanan Vinodh, Schaefer G Bradley, Bonasio Roberto, Doheny Kimberly F, Stevenson Roger E, Banka Siddharth, Sadikovic Bekim, Fahrner Jill A 24 Nov 2021, In: npj Genomic Medicine. 6

Genetic causes underlying grey matter heterotopia

Oegema Renske Nov 2021, In: European Journal of Paediatric Neurology. 35 , p. 82-92 11 p.

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Galosi Serena, Edani Ban H, Martinelli Simone, Hansikova Hana, Eklund Erik A, Caputi Caterina, Masuelli Laura, Corsten-Janssen Nicole, Srour Myriam, Oegema Renske, Bosch Daniëlle G M, Ellis Colin A, Amlie-Wolf Louise, Accogli Andrea, Atallah Isis, Averdunk Luisa, Barañano Kristin W, Bei Roberto, Bagnasco Irene, Brusco Alfredo, Demarest Scott, Alaix Anne-Sophie, Di Bonaventura Carlo, Distelmaier Felix, Elmslie Frances, Gan-Or Ziv, Good Jean-Marc, Gripp Karen, Kamsteeg Erik-Jan, Macnamara Ellen, Marcelis Carlo, Mercier Noëlle, Peeden Joseph, Pizzi Simone, Pannone Luca, Shinawi Marwan, Toro Camilo, Verbeek Nienke E, Venkateswaran Sunita, Wheeler Patricia G, Zdrazilova Lucie, Zhang Rong, Zorzi Giovanna, Guerrini Renzo, Sessa William C, Lefeber Dirk, Tartaglia Marco, Hamdan Fadi F, Grabińska Kariona A, Leuzzi Vincenzo 11 Aug 2021, In: Brain : a journal of neurology. 145 , p. 208-223 16 p.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Cousin Margot A, Creighton Blake A, Breau Keith A, Spillmann Rebecca C, Torti Erin, Dontu Sruthi, Tripathi Swarnendu, Ajit Deepa, Edwards Reginald J, Afriyie Simone, Bay Julia C, Harper Kathryn M, Beltran Alvaro A, Munoz Lorena J, Falcon Rodriguez Liset, Stankewich Michael C, Person Richard E, Si Yue, Normand Elizabeth A, Blevins Amy, May Alison S, Bier Louise, Aggarwal Vimla, Mancini Grazia M S, van Slegtenhorst Marjon A, Cremer Kirsten, Becker Jessica, Engels Hartmut, Aretz Stefan, MacKenzie Jennifer J, Brilstra Eva, van Gassen Koen L I, van Jaarsveld Richard H, Oegema Renske, Parsons Gretchen M, Mark Paul, Helbig Ingo, McKeown Sarah E, Stratton Robert, Cogne Benjamin, Isidor Bertrand, Cacheiro Pilar, Smedley Damian, Firth Helen V, Bierhals Tatjana, Kloth Katja, Weiss Deike, Fairley Cecilia, Shieh Joseph T, Kritzer Amy, 1 Jul 2021, In: Nature Genetics. 53 , p. 1006-1021+ 16 p.

De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy

Djordjevic Djurdja, Pinard Maxime, Gauthier Marie-Soleil, Smith-Hicks Constance, Hoffman Trevor L, Wolf Nicole I, Oegema Renske, van Binsbergen Ellen, Baskin Berivan, Bernard Geneviève, Fribourg Sébastien, Coulombe Benoit, Yoon Grace 7 Jan 2021, In: American Journal of Human Genetics. 108 , p. 186-193 8 p.

Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency

Hellebrekers Debby, Nievelstein Rutger A J, van Hasselt Peter M, van Jaarsveld Richard H, Cuppen Inge, Oegema Renske Jan 2021, In: European Journal of Medical Genetics. 64 5 p.

International consensus recommendations on the diagnostic work-up for malformations of cortical development

Oegema Renske, Barakat Tahsin Stefan, Wilke Martina, Stouffs Katrien, Amrom Dina, Aronica Eleonora, Bahi-Buisson Nadia, Conti Valerio, Fry Andrew E, Geis Tobias, Andres David Gomez, Parrini Elena, Pogledic Ivana, Said Edith, Soler Doriette, Valor Luis M, Zaki Maha S, Mirzaa Ghayda, Dobyns William B, Reiner Orly, Guerrini Renzo, Pilz Daniela T, Hehr Ute, Leventer Richard J, Jansen Anna C, Mancini Grazia M S, Di Donato Nataliya 7 Sep 2020, In: Nature Reviews Neurology. 16 , p. 618-635 18 p.

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