Found: 22

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  • Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

    Published in:
    Cell Death & Disease, 2024, v. 15, n. 5, p. 1, doi. 10.1038/s41419-024-06768-6
    By:
    • Werren, Elizabeth A.;
    • Peirent, Emily R.;
    • Jantti, Henna;
    • Guxholli, Alba;
    • Srivastava, Kinshuk Raj;
    • Orenstein, Naama;
    • Narayanan, Vinodh;
    • Wiszniewski, Wojciech;
    • Dawidziuk, Mateusz;
    • Gawlinski, Pawel;
    • Umair, Muhammad;
    • Khan, Amjad;
    • Khan, Shahid Niaz;
    • Geneviève, David;
    • Lehalle, Daphné;
    • van Gassen, K. L. I.;
    • Giltay, Jacques C.;
    • Oegema, Renske;
    • van Jaarsveld, Richard H.;
    • Rafiullah, Rafiullah
    Publication type:
    Article

  • Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.

    Published in:
    Neurogenetics, 2013, v. 14, n. 1, p. 43, doi. 10.1007/s10048-012-0351-8
    By:
    • Poulton, Cathryn;
    • Oegema, Renske;
    • Heijsman, Daphne;
    • Hoogeboom, Jeannette;
    • Schot, Rachel;
    • Stroink, Hans;
    • Willemsen, Michèl;
    • Verheijen, Frans;
    • Spek, Peter;
    • Kremer, Andreas;
    • Mancini, Grazia
    Publication type:
    Article

  • When brain size matters: novel insights into brain volume control.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3112, doi. 10.1093/brain/awad230
    By:
    • Oegema, Renske
    Publication type:
    Article

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

    Published in:
    2022
    By:
    • 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
    Publication type:
    journal article

  • Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

    Published in:
    2019
    By:
    • Vandervore, Laura V;
    • Schot, Rachel;
    • Kasteleijn, Esmee;
    • Oegema, Renske;
    • Stouffs, Katrien;
    • Gheldof, Alexander;
    • Grochowska, Martyna M;
    • Sterre, Marianne L T van der;
    • Unen, Leontine M A van;
    • Wilke, Martina;
    • Elfferich, Peter;
    • Spek, Peter J van der;
    • Heijsman, Daphne;
    • Grandone, Anna;
    • Demmers, Jeroen A A;
    • Dekkers, Dick H W;
    • Slotman, Johan A;
    • Kremers, Gert-Jan;
    • Schaaf, Gerben J;
    • Masius, Roy G
    Publication type:
    journal article

  • HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

    Published in:
    2018
    By:
    • Marini, Carla;
    • Porro, Alessandro;
    • Rastetter, Agnès;
    • Dalle, Carine;
    • Rivolta, Ilaria;
    • Bauer, Daniel;
    • Oegema, Renske;
    • Nava, Caroline;
    • Parrini, Elena;
    • Mei, Davide;
    • Mercer, Catherine;
    • Dhamija, Radhika;
    • Chambers, Chelsea;
    • Coubes, Christine;
    • Thévenon, Julien;
    • Kuentz, Paul;
    • Julia, Sophie;
    • Pasquier, Laurent;
    • Dubourg, Christèle;
    • Carré, Wilfrid
    Publication type:
    journal article

  • Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

    Published in:
    2017
    By:
    • Niturad, Cristina Elena;
    • Lev, Dorit;
    • Kalscheuer, Vera M.;
    • Charzewska, Agnieszka;
    • Schubert, Julian;
    • Lerman-Sagie, Tally;
    • Kroes, Hester Y.;
    • Oegema, Renske;
    • Traverso, Monica;
    • Specchio, Nicola;
    • Lassota, Maria;
    • Chelly, Jamel;
    • Bennett-Back, Odeya;
    • Carmi, Nirit;
    • Koffler-Brill, Tal;
    • Iacomino, Michele;
    • Trivisano, Marina;
    • Capovilla, Giuseppe;
    • Striano, Pasquale;
    • Nawara, Magdalena
    Publication type:
    journal article

  • COL4A2 mutation associated with familial porencephaly and small-vessel disease.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 8, p. 844, doi. 10.1038/ejhg.2012.20
    By:
    • Verbeek, Elly;
    • Meuwissen, Marije EC;
    • Verheijen, Frans W;
    • Govaert, Paul P;
    • Licht, Daniel J;
    • Kuo, Debbie S;
    • Poulton, Cathryn J;
    • Schot, Rachel;
    • Lequin, Maarten H;
    • Dudink, Jeroen;
    • Halley, Dicky J;
    • de Coo, René IF;
    • den Hollander, Jan C;
    • Oegema, Renske;
    • Gould, Douglas B;
    • Mancini, Grazia MS
    Publication type:
    Article

  • EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 627, doi. 10.1002/ajmg.c.31751
    By:
    • Oegema, Renske;
    • McGillivray, George;
    • Leventer, Richard;
    • Le Moing, Anne‐Gaëlle;
    • Bahi‐Buisson, Nadia;
    • Barnicoat, Angela;
    • Mandelstam, Simone;
    • Francis, David;
    • Francis, Fiona;
    • Mancini, Grazia M. S.;
    • Savelberg, Sanne;
    • Haaften, Gijs;
    • Mankad, Kshitij;
    • Lequin, Maarten H.
    Publication type:
    Article

  • Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.

    Published in:
    Clinical Genetics, 2021, v. 99, n. 2, p. 259, doi. 10.1111/cge.13874
    By:
    • Jacobs, Eva Z.;
    • Brown, Kathleen;
    • Byler, Melissa C.;
    • D'haenens, Erika;
    • Dheedene, Annelies;
    • Henderson, Lindsay B.;
    • Humberson, Jennifer B.;
    • Jaarsveld, Richard H.;
    • Kanani, Farah;
    • Lebel, Robert Roger;
    • Millan, Francisca;
    • Oegema, Renske;
    • Oostra, Ann;
    • Parker, Michael J.;
    • Rhodes, Lindsay;
    • Saenz, Margarita;
    • Seaver, Laurie H.;
    • Si, Yue;
    • Vanlander, Arnaud;
    • Vergult, Sarah
    Publication type:
    Article

  • Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.

    Published in:
    Frontiers in Molecular Neuroscience, 2016, p. 1, doi. 10.3389/fnmol.2015.00085
    By:
    • Kalscheuer, Vera M.;
    • James, Victoria M.;
    • Himelright, Miranda L.;
    • Long, Philip;
    • Oegema, Renske;
    • Jensen, Corinna;
    • Bienek, Melanie;
    • Hao Hu;
    • Haas, Stefan A.;
    • Topf, Maya;
    • Hoogeboom, A. Jeannette M.;
    • Harvey, Kirsten;
    • Walikonis, Randall;
    • Harvey, Robert J.;
    • Hiroyuki Sakagami;
    • Shoubridge, Cheryl
    Publication type:
    Article

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

    Published in:
    2020
    By:
    • Lin Li;
    • Ghorbani, Mohammad;
    • Weisz-Hubshman, Monika;
    • Rousseau, Justine;
    • Thiffault, Isabelle;
    • Schnur, Rhonda E.;
    • Breen, Catherine;
    • Oegema, Renske;
    • Weiss, Marjan M. M.;
    • Waisfisz, Quinten;
    • Welner, Sara;
    • Kingston, Helen;
    • Hills, Jordan A.;
    • Boon, Elles M. J.;
    • Basel-Salmon, Lina;
    • Konen, Osnat;
    • Goldberg-Stern, Hadassa;
    • Bazak, Lily;
    • Tzur, Shay;
    • Jin, Jianliang
    Publication type:
    journal article

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

    Published in:
    2021
    By:
    • 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.
    Publication type:
    Correction Notice

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

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00256-y
    By:
    • 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.
    Publication type:
    Article

  • A single strand that links multiple neuropathologies in human disease.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. e266, doi. 10.1093/brain/awt197
    By:
    • Oegema, Renske;
    • Poulton, Cathryn J.;
    • Mancini, Grazia M. S.
    Publication type:
    Article

  • Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.

    Published in:
    2017
    By:
    • Oegema, Renske;
    • Baillat, David;
    • Schot, Rachel;
    • van Unen, Leontine M.;
    • Brooks, Alice;
    • Kia, Sima Kheradmand;
    • Hoogeboom, A. Jeannette M.;
    • Xia, Zheng;
    • Li, Wei;
    • Cesaroni, Matteo;
    • Lequin, Maarten H.;
    • van Slegtenhorst, Marjon;
    • Dobyns, William B.;
    • de Coo, Irenaeus F. M.;
    • van den Berg, Debbie;
    • Verheijen, Frans W.;
    • Kremer, Andreas;
    • van der Spek, Peter J.;
    • Heijsman, Daphne;
    • Wagner, Eric J.
    Publication type:
    Correction Notice

  • Human mutations in integrator complex subunits link transcriptome integrity to brain development.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 5, p. 1, doi. 10.1371/journal.pgen.1006809
    By:
    • Oegema, Renske;
    • Baillat, David;
    • Schot, Rachel;
    • van Unen, Leontine M.;
    • Brooks, Alice;
    • Kia, Sima Kheradmand;
    • Hoogeboom, A. Jeannette M.;
    • Xia, Zheng;
    • Li, Wei;
    • Cesaroni, Matteo;
    • Lequin, Maarten H.;
    • van Slegtenhorst, Marjon;
    • Dobyns, William B.;
    • de Coo, Irenaeus F. M.;
    • Verheijen, Frans W.;
    • Kremer, Andreas;
    • van der Spek, Peter J.;
    • Heijsman, Daphne;
    • Wagner, Eric J.;
    • Fornerod, Maarten
    Publication type:
    Article

  • Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.

    Published in:
    Nature Neuroscience, 2014, v. 17, n. 7, p. 923, doi. 10.1038/nn.3729
    By:
    • Kielar, Michel;
    • Tuy, Françoise Phan Dinh;
    • Bizzotto, Sara;
    • Lebrand, Cécile;
    • de Juan Romero, Camino;
    • Poirier, Karine;
    • Oegema, Renske;
    • Mancini, Grazia Maria;
    • Bahi-Buisson, Nadia;
    • Olaso, Robert;
    • Le Moing, Anne-Gaëlle;
    • Boutourlinsky, Katia;
    • Boucher, Dominique;
    • Carpentier, Wassila;
    • Berquin, Patrick;
    • Deleuze, Jean-François;
    • Belvindrah, Richard;
    • Borrell, Victor;
    • Welker, Egbert;
    • Chelly, Jamel
    Publication type:
    Article

  • Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 18, p. 5313, doi. 10.1093/hmg/ddv250
    By:
    • Oegema, Renske;
    • Cushion, Thomas D.;
    • Phelps, Ian G.;
    • Seo-Kyung Chung;
    • Dempsey, Jennifer C.;
    • Collins, Sarah;
    • Mullins, Jonathan G. L.;
    • Dudding, Tracy;
    • Gill, Harinder;
    • Green, Andrew J.;
    • Dobyns, William B.;
    • Ishak, Gisele E.;
    • Rees, Mark I.;
    • Doherty, Dan
    Publication type:
    Article

  • The spectrum of brain malformations and disruptions in twins.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2690, doi. 10.1002/ajmg.a.61972
    By:
    • 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.
    Publication type:
    Article

  • Novel no-stop FLNA mutation causes multi-organ involvement in males.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2376, doi. 10.1002/ajmg.a.36109
    By:
    • Oegema, RENske;
    • Hulst, Jessie M.;
    • Theuns ‐ Valks, Sabine D.M.;
    • van UnEN, Leontine M.A.;
    • Schot, Rachel;
    • Mancini, Grazia M.S.;
    • Schipper, Marguerite E.I.;
    • de Wit, Marie C.Y.;
    • Sibbles, Barbara J.;
    • de Coo, IrENaeus F.M.;
    • Nanninga, Veerle;
    • Hofstra, Robert M.W.;
    • Halley, Dicky J.J.;
    • Brooks, Alice S.
    Publication type:
    Article

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

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1472, doi. 10.1002/ajmg.a.35365
    By:
    • Oegema, Renske;
    • Maat-Kievit, Anneke;
    • Lequin, Maarten H.;
    • Schot, Rachel;
    • Nanninga- van den Neste, Veerle M.H.;
    • Doornbos, Marianne E.;
    • de Wit, Marie C.Y.;
    • Halley, Dicky J.;
    • Mancini, Grazia M.S.
    Publication type:
    Article