Renske Oegema

Renske Oegema

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Renske Oegema

Renske Oegema

Publications by authors named "Renske Oegema"

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Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals.

Neurology 2019 Sep 4. Epub 2019 Sep 4.

From the Department of Clinical Genetics (R.O., G.M.S.M.), Erasmus MC University Medical Center, Rotterdam; Department of Genetics (R.O.), University Medical Center Utrecht, the Netherlands; Departments of Radiology and Biomedical Imaging and Neurology and Neurology (A.J.B.), University of California, San Francisco; Department of Neuroscience, Pharmacology and Child Health (R.G.), Children's Hospital A. Meyer and University of Florence, Italy; Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute; and Departments of Pediatrics and Neurology (W.B.D.), University of Washington, Seattle.

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http://dx.doi.org/10.1212/WNL.0000000000008200DOI Listing
September 2019

Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Aug;21(8):1896

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0325-9DOI Listing
August 2019

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Jul;21(7):1671

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0284-1DOI Listing
July 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2019 Jun 29. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
June 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 May 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 02 10;21(2):398-408. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://www.nature.com/articles/s41436-018-0060-2
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http://dx.doi.org/10.1038/s41436-018-0060-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292495PMC
February 2019

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Nucleic Acids Res 2019 Jan;47(D1):D1018-D1027

Monarch Initiative, monarchinitiative.org.

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https://academic.oup.com/nar/advance-article/doi/10.1093/nar
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http://dx.doi.org/10.1093/nar/gky1105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324074PMC
January 2019

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Hum Mol Genet 2015 Sep 30;24(18):5313-25. Epub 2015 Jun 30.

Department of Pediatrics, Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA,

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http://dx.doi.org/10.1093/hmg/ddv250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550818PMC
September 2015

A single strand that links multiple neuropathologies in human disease.

Brain 2014 Apr 5;137(Pt 4):e266. Epub 2013 Aug 5.

Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, The Netherlands.

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http://dx.doi.org/10.1093/brain/awt197DOI Listing
April 2014

Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.

Am J Med Genet A 2012 Jun 14;158A(6):1472-6. Epub 2012 May 14.

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.35365DOI Listing
June 2012

Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p.

Eur J Med Genet 2012 Apr 21;55(4):265-8. Epub 2012 Feb 21.

Department of Clinical Genetics, Erasmus MC, Postbus 2040, 3000 CA, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2012.01.015DOI Listing
April 2012

[Diabetes treatment in children: intensive therapy is not always best].

Ned Tijdschr Geneeskd 2011 ;155:A802

Meander Medisch Centrum, Amersfoort, The Netherlands.

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September 2011

KBG syndrome associated with periventricular nodular heterotopia.

Clin Dysmorphol 2010 Jul;19(3):164-5

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0b013e3283387b3bDOI Listing
July 2010