R
Renske Oegema
Researcher at Utrecht University
Publications - 33
Citations - 1241
Renske Oegema is an academic researcher from Utrecht University. The author has contributed to research in topics: Medicine & Hypotonia. The author has an hindex of 11, co-authored 25 publications receiving 728 citations. Previous affiliations of Renske Oegema include Erasmus University Rotterdam.
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Journal ArticleDOI
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Sebastian Köhler,Leigh C. Carmody,Nicole Vasilevsky,Julius O.B. Jacobsen,Daniel Danis,Jean-Philippe F. Gourdine,Michael A. Gargano,Nomi L. Harris,Nicolas Matentzoglu,Julie A. McMurry,David Osumi-Sutherland,Valentina Cipriani,James P. Balhoff,Tom Conlin,Hannah Blau,Gareth Baynam,Richard Palmer,Dylan Gratian,Hugh Dawkins,Michael M. Segal,Anna Jansen,Ahmed Muaz,Willie H. Chang,Jenna R.E. Bergerson,Stanley J. F. Laulederkind,Zafer Yüksel,Sergi Beltran,Alexandra F. Freeman,Panagiotis I. Sergouniotis,Daniel Durkin,Andrea L. Storm,Marc Hanauer,Michael Brudno,Susan M. Bello,Murat Sincan,Kayli Rageth,Matthew T. Wheeler,Renske Oegema,Halima Lourghi,Maria G. Della Rocca,Rachel Thompson,Francisco Castellanos,James R. Priest,Charlotte Cunningham-Rundles,Ayushi Hegde,Ruth C. Lovering,Catherine Hajek,Annie Olry,Luigi D. Notarangelo,Morgan Similuk,Xingmin Aaron Zhang,David Gómez-Andrés,Hanns Lochmüller,Hélène Dollfus,Sergio Rosenzweig,Shruti Marwaha,Ana Rath,Kathleen E. Sullivan,Cynthia L. Smith,Joshua D. Milner,Dorothée Leroux,Cornelius F. Boerkoel,Amy D. Klion,Melody C. Carter,Tudor Groza,Damian Smedley,Melissa A. Haendel,Melissa A. Haendel,Christopher J. Mungall,Peter N. Robinson +69 more
TL;DR: The HPO’s interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data and plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data.
Journal ArticleDOI
The landscape of epilepsy-related GATOR1 variants
Sara Baldassari,Fabienne Picard,Nienke E. Verbeek,Marjan J. A. van Kempen,Eva H. Brilstra,Gaetan Lesca,Valerio Conti,Renzo Guerrini,Francesca Bisulli,Laura Licchetta,Tommaso Pippucci,Paolo Tinuper,Edouard Hirsch,Anne de Saint Martin,Jamel Chelly,Gabrielle Rudolf,Mathilde Chipaux,Sarah Ferrand-Sorbets,Georg Dorfmüller,Sanjay M. Sisodiya,Simona Balestrini,Natasha E. Schoeler,Laura Hernandez-Hernandez,S. Krithika,Renske Oegema,Eveline Hagebeuk,Boudewijn Gunning,Charles Deckers,Bianca Berghuis,Ilse Wegner,Erik H. Niks,Floor E. Jansen,Kees P.J. Braun,Daniëlle de Jong,Guido Rubboli,Inga Talvik,Valentin Sander,Peter Uldall,Marie Line Jacquemont,Caroline Nava,Eric LeGuern,Sophie Julia,Antonio Gambardella,Giuseppe d'Orsi,Giovanni Crichiutti,Laurence Faivre,Veronique Darmency,Barbora Benova,Pavel Krsek,Arnaud Biraben,Anne-Sophie Lebre,Melanie Jennesson,Shifteh Sattar,Cécile Marchal,Douglas R. Nordli,Kristin Lindstrom,Pasquale Striano,Lysa Boissé Lomax,Courtney Kiss,Fabrice Bartolomei,Anne Fabienne Lepine,An Sofie Schoonjans,Katrien Stouffs,Anna Jansen,Eleni Panagiotakaki,Brigitte Ricard-Mousnier,Julien Thevenon,Julitta de Bellescize,Hélène Catenoix,Thomas Dorn,Martin Zenker,Karen Müller-Schlüter,Christian Brandt,Ilona Krey,Tilman Polster,Markus Wolff,Meral Balci,Kevin Rostasy,Guillaume Achaz,Pia Zacher,Thomas Becher,Thomas Cloppenborg,Christopher J. Yuskaitis,Christopher J. Yuskaitis,Sarah Weckhuysen,Annapurna Poduri,Annapurna Poduri,Johannes R. Lemke,Rikke S. Møller,Stéphanie Baulac +89 more
TL;DR: The data emphasize the increasingly important role of Gator1 genes in the pathogenesis of focal epilepsies, and the GATOR1 phenotypic spectrum ranges from sporadic early-onset epilepsie with cognitive impairment comorbidities to familial focal seizures, and SUDEP.
Journal ArticleDOI
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
Carla Marini,Alessandro Porro,Agnès Rastetter,Carine Dalle,Ilaria Rivolta,Daniel Bauer,Renske Oegema,Caroline Nava,Elena Parrini,Davide Mei,Catherine Mercer,Radhika Dhamija,Chelsea Chambers,Christine Coubes,Julien Thevenon,Paul Kuentz,Sophie Julia,Laurent Pasquier,Christèle Dubourg,Wilfrid Carré,Anna Rosati,Federico Melani,Tiziana Pisano,Maria Giardino,A. Micheil Innes,Yves Alembik,Sophie Scheidecker,Manuela Santos,Sonia Figueiroa,Cristina Garrido,Carlo Fusco,Daniele Frattini,Carlotta Spagnoli,Anna Binda,Tiziana Granata,Francesca Ragona,Elena Freri,Silvana Franceschetti,Laura Canafoglia,Barbara Castellotti,Cinzia Gellera,Raffaella Milanesi,Maria Margherita Mancardi,Damien R Clark,Fernando Kok,Katherine L. Helbig,Shoji Ichikawa,Laurie S. Sadler,Jana Neupauerová,Petra Laššuthová,Katalin Sterbova,Annick Laridon,Eva H. Brilstra,Bobby P. C. Koeleman,Johannes R. Lemke,Federico Zara,Pasquale Striano,Julie Soblet,Guillaume Smits,Nicolas Deconinck,Andrea Barbuti,Dario DiFrancesco,Eric LeGuern,Renzo Guerrini,Bina Santoro,Kay Hamacher,Gerhard Thiel,Anna Moroni,Jacopo C. DiFrancesco,Christel Depienne +69 more
TL;DR: The results considerably expand the clinical spectrum related to HCN1 variants to include common generalized epilepsy phenotypes and further illustrate howHCN1 has a pivotal function in brain development and control of neuronal excitability.
Journal ArticleDOI
Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Renske Oegema,Renske Oegema,David Baillat,Rachel Schot,Leontine van Unen,Alice S. Brooks,Sima Kheradmand Kia,A. Jeannette M. Hoogeboom,Zheng Xia,Wei Li,Matteo Cesaroni,Maarten H. Lequin,Marjon van Slegtenhorst,William B. Dobyns,Irenaeus F.M. de Coo,Frans W. Verheijen,Andreas Kremer,Peter J. van der Spek,Daphne Heijsman,Eric J. Wagner,Maarten Fornerod,Grazia M.S. Mancini +21 more
TL;DR: The results confirm the essential role of Integrator to transcriptome integrity and point to the requirement of the Integrator complex in human brain development.
Journal ArticleDOI
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Scott C. Bell,Justine Rousseau,Huashan Peng,Zahia Aouabed,Pierre Priam,Jean-François Théroux,Malvin Jefri,Arnaud Tanti,Hanrong Wu,Ilaria Kolobova,Heika Silviera,Karla Manzano-Vargas,Sophie Ehresmann,Fadi F. Hamdan,Nuwan C. Hettige,Xin Zhang,Lilit Antonyan,Christina Nassif,Lina Ghaloul-Gonzalez,Jessica Sebastian,Jerry Vockley,Amber G. Begtrup,Ingrid M. Wentzensen,Amy Crunk,Robert D. Nicholls,Kristin Herman,Joshua L. Deignan,Walla Al-Hertani,Stephanie Efthymiou,Vincenzo Salpietro,Noriko Miyake,Yoshio Makita,Naomichi Matsumoto,Rune Østern,Gunnar Houge,Maria Hafström,Emily Fassi,Henry Houlden,Jolien S. Klein Wassink-Ruiter,Dominic Nelson,Amy Goldstein,Tabib Dabir,Julien van Gils,Thomas Bourgeron,Richard Delorme,Gregory M. Cooper,Jose E. Martinez,Candice R. Finnila,Lionel Carmant,Anne Lortie,Renske Oegema,Koen L.I. van Gassen,Sarju G. Mehta,Dagmar Huhle,Rami Abou Jamra,Sonja Martin,Han G. Brunner,Han G. Brunner,Dick Lindhout,Margaret G. Au,John M. Graham,Christine Coubes,Gustavo Turecki,Simon Gravel,Naguib Mechawar,Elsa Rossignol,Jacques L. Michaud,Julie A. Lessard,Carl Ernst,Philippe M. Campeau +69 more
TL;DR: A role for ACTL6B in neurodevelopment and altered regulation of some cytoskeletal genes contribute to altered dendrite development are revealed and implicate another component of chromatin remodeling machinery in brain disease.