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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 (28)

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.

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.

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability

Li Lin, Ghorbani Mohammad, Weisz-Hubshman Monika, Rousseau Justine, Thiffault Isabelle, Schnur Rhonda E, Breen Catherine, Oegema Renske, Weiss Marjan Mm, Waisfisz Quinten, Welner Sara, Kingston Helen, Hills Jordan A, Boon Elles Mj, Basel-Salmon Lina, Konen Osnat, Goldberg-Stern Hadassa, Bazak Lily, Tzur Shay, Jin Jianliang, Bi Xiuli, Bruccoleri Michael, McWalter Kirsty, Cho Megan T, Scarano Maria, Schaefer G Bradley, Brooks Susan S, Hughes Susan Starling, van Gassen K L I, van Hagen Johanna M, Pandita Tej K, Agrawal Pankaj B, Campeau Philippe M, Yang Xiang-Jiao 4 Feb 2020, In: Journal of Clinical Investigation. 130 , p. 1431-1445 15 p.

The spectrum of brain malformations and disruptions in twins

Park Kaylee B, Chapman Teresa, Aldinger Kimberly A, Mirzaa Ghayda M, Zeiger Jordan, Beck Anita, Glass Ian A, Hevner Robert F, Jansen Anna C, Marshall Desiree A, Oegema Renske, Parrini Elena, Saneto Russell P, Curry Cynthia J, Hall Judith G, Guerrini Renzo, Leventer Richard J, Dobyns William B 2020, In: American Journal of Medical Genetics. Part A. 185 , p. 2690-2718 29 p.

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