R. Frank Kooy

ORCID: 0000-0003-2024-0485
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About
Contact & Profiles
Research Areas
  • Genetics and Neurodevelopmental Disorders
  • Genomic variations and chromosomal abnormalities
  • Autism Spectrum Disorder Research
  • Genomics and Rare Diseases
  • Congenital heart defects research
  • RNA modifications and cancer
  • Epigenetics and DNA Methylation
  • Ubiquitin and proteasome pathways
  • Chromosomal and Genetic Variations
  • Genomics and Chromatin Dynamics
  • Prenatal Screening and Diagnostics
  • RNA regulation and disease
  • RNA Research and Splicing
  • Peptidase Inhibition and Analysis
  • Cancer Genomics and Diagnostics
  • Chromatin Remodeling and Cancer
  • Genetic Neurodegenerative Diseases
  • Nuclear Receptors and Signaling
  • Mitochondrial Function and Pathology
  • Metabolism and Genetic Disorders
  • Trypanosoma species research and implications
  • Neuroscience and Neuropharmacology Research
  • Neurogenetic and Muscular Disorders Research
  • RNA and protein synthesis mechanisms
  • Endoplasmic Reticulum Stress and Disease

University of Antwerp
2016-2025

Antwerp University Hospital
2016-2025

deCODE Genetics (Iceland)
2024

University of Sfax
2024

University of Pavia
2024

Baylor College of Medicine
2024

Baylor Genetics
2024

VIB-UAntwerp Center for Molecular Neurology
2024

Erasmus MC
2023

Singer (United States)
2007

Gary A. Churchill David Airey Hooman Allayee Joe M. Angel Alan Attie and 95 more J. Thomas Beatty William D. Beavis John K. Belknap Beth Bennett Wade H. Berrettini André Bleich Molly A. Bogue Karl W. Broman Kari J. Buck Edward S. Buckler Margit Burmeister Elissa J. Chesler James M. Cheverud Steven J. Clapcote Melloni N. Cook Roger Cox John C. Crabbe Wim E. Crusio Ariel Darvasi Christian F. Deschepper R. W. Doerge Charles R. Farber Jiřı́ Forejt Daniel P. Gaile Steven J. Garlow Hartmut Geiger Howard K. Gershenfeld Terry Gordon Jing Gu Weikuan Gu Gerald de Haan Nancy L. Hayes Craig Heller Heinz Himmelbauer Robert Hitzemann Kent W. Hunter Hui-Chen Hsu Fuad A. Iraqi Boris Ivandic Howard J. Jacob Ritsert C. Jansen Karl J. Jepsen Dabney K. Johnson Thomas E. Johnson Gerd Kempermann Christina Kendziorski Malak Kotb R. Frank Kooy Bastien Llamas Frank Lammert Jean‐Michel Lassalle Pedro R. Löwenstein Lu Lu Aldons J. Lusis Kenneth F. Manly Ralph Marcucio Doug Matthews Juan F. Medrano Darla R. Miller Guy Mittleman Beverly A. Mock Jeffrey S. Mogil Xavier Montagutelli Grant Morahan D.G. Morris Richard Mott Joseph H. Nadeau Hiroki Nagase Richard S. Nowakowski Bruce F. O’Hara А. В. Осадчук Grier P. Page Beverly Paigen Kenneth Paigen Abraham A. Palmer Huei-Ju Pan Leena Peltonen-Palotie Jeremy L. Peirce Daniel Pomp Michal Pravenec Daniel R. Prows Zhonghua Qi Roger H. Reeves John Roder Glenn D. Rosen Eric E. Schadt Leonard C. Schalkwyk Ze’ev Seltzer Kazuhiro Shimomura Siming Shou Mikko J. Sillanpää Linda D. Siracusa Hans-Willem Snoeck Jimmy L. Spearow Karen L. Svenson

10.1038/ng1104-1133 article EN Nature Genetics 2004-10-28

Fragile-X syndrome is a common form of mental retardation resulting from the inability to produce fragile-X protein. Qualitative examination human brain autopsy material has shown that patients exhibit abnormal dendritic spine lengths and shapes on parieto-occipital neocortical pyramidal cells. Similar quantitative results have been obtained in knockout mice, engineered lack Dendritic spines layer V cells temporal visual cortices stained using Golgi-Kopsch method were investigated....

10.1002/1096-8628(20010115)98:2<161::aid-ajmg1025>3.0.co;2-b article EN American Journal of Medical Genetics 2001-01-01
Robin Walters Sébastien Jacquemont Armand Valsesia Adam J. de Smith Danielle Martinet and 90 more Johanna C. Andersson‐Assarsson Mario Falchi Fei Chen Joris Andrieux Stéphane Lobbens B Delobel Fanny Stutzmann Julia S. El-Sayed Moustafa Jean-Claude Chèvre Cécile Lecœur Vincent Vatin Sonia Bouquillon Jessica L. Buxton Odile Boute Muriel Holder‐Espinasse Jean‐Marie Cuisset M. Lemaître Anne‐Emmanuelle Ambresin Andrea Brioschi Muriel Gaillard Vittorio Giusti Florence Fellmann Alessandra Ferrarini Nouchine Hadjikhani Dominique Campion Audrey Guilmatre Anna Goldenberg Nadège Calmels Jean‐Louis Mandel Cédric Le Caignec A. David Bertrand Isidor Marie‐Pierre Cordier Sophie Dupuis‐Girod Audrey Labalme Damien Sanlaville Mylène Béri‐Dexheimer Philippe Jonveaux Bruno Leheup Katrin Õunap Elena G. Bochukova Elana Henning Julia M. Keogh Richard J. Ellis K D MacDermot Mieke M. van Haelst C. Vincent‐Delorme Ghislaine Plessis Renaud Touraine Anne Philippe Valérie Malan M. Mathieu‐Dramard Jean Chiésa Bettina Blaumeiser R. Frank Kooy Robert Caïazzo Marie Pigeyre Beverley Balkau Robert Sladek Sven Bergmann Vincent Mooser Dawn Waterworth Alexandre Reymond Péter Vollenweider Gérard Waeber Ants Kurg Priit Palta Tõnu Esko Andres Metspalu Mari Nelis Paul Elliott Anna‐Liisa Hartikainen Mark I. McCarthy L. Peltonen Lena Carlsson Peter Jacobson Lars Sjöström Ni Huang Matthew E. Hurles Stephen O’Rahilly I. Sadaf Farooqi Katrin Männik Marjo‐Riitta Järvelin François Pattou Stephen Eyre Andrew J. Walley Lachlan Coin Alexandra I. F. Blakemore Philippe Froguel J. Beckmann

10.1038/nature08727 article EN Nature 2010-02-01
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin Walters and 95 more Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D. Beckmann Guðmar Þorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B.A. de Vries Tõnu Esko Bridget A. Fernandez Fernando Fernández‐Aranda José Manuel Fernández‐Real Mónica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo‐Riitta Järvelin R. Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S. Platt Damien Sanlaville Mieke M. van Haelst Sergi Villatoro Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie‐Claude Addor Yves Alembik Stylianos E. Antonarakis Benoı̂t Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Béri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G. Brunner Dorothée Cailley Patrick Callier Jean Chiésa Jacqueline Chrast Lachlan Coin Charles Coutton Jean‐Marie Cuisset J. Cuvellier Albert David Bénédicte de Fréminville Bruno Delobel Marie‐Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco‐Fenzy Séverine Drunat Bénédicte Duban‐Bedu Christèle Dubourg Julia S. El-Sayed Moustafa Paul Elliott Brigitte H. W. Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gérard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J. Grabe Agnès Guichet Olivier Guillin Anna‐Liisa Hartikainen Delphine Héron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez‐Múrcia Géraldine Joly Helas

10.1038/nature10406 article EN Nature 2011-08-30

<h3>Background:</h3> Recurrent 15q13.3 microdeletions were recently identified with identical proximal (BP4) and distal (BP5) breakpoints associated mild to moderate mental retardation epilepsy. <h3>Methods:</h3> To assess further the clinical implications of this novel microdeletion syndrome, 18 new probands a deletion molecularly clinically characterised. In addition, we evaluated characteristics family more between BP3 BP4. Finally, four patients duplication in BP3–BP4–BP5 region included...

10.1136/jmg.2008.063412 article EN Journal of Medical Genetics 2009-04-15

10.1016/j.ajhg.2015.07.004 article EN publisher-specific-oa The American Journal of Human Genetics 2015-07-30
Tianyun Wang Kendra Hoekzema Davide Vecchio Huidan Wu Arvis Sulovari and 95 more Bradley P. Coe Madelyn A. Gillentine Amy B. Wilfert Luis A. Pérez‐Jurado Malin Kvarnung Yoeri Sleyp Rachel K. Earl Jill A. Rosenfeld Madeleine R. Geisheker Lin Han Bing Du Chris Barnett E. A. Thompson Marie Shaw Renée Carroll Kathryn Friend Rachael Catford Elizabeth E. Palmer Xiaobing Zou Jianjun Ou Honghui Li Hui Guo Jennifer Gerdts Emanuela Avola Giuseppe Calabrese Maurizio Elia Donatella Greco Anna Lindstrand Ann Nordgren Britt‐Marie Anderlid Geert Vandeweyer Anke Van Dijck Nathalie Van der Aa Brooke G. McKenna Miroslava Hančárová Šárka Bendová Markéta Havlovicová Giovanni Malerba Bernardo Dalla Bernardina Pierandrea Muglia Arie van Haeringen Mariëtte J.V. Hoffer Barbara Franke Gerarda Cappuccio Martin B. Delatycki Paul J. Lockhart Melanie A. Manning Pengfei Liu Ingrid E. Scheffer Nicola Brunetti‐Pierri Nanda Rommelse David G. Amaral Gijs W.E. Santen Elisabetta Trabetti Zdeněk Sedláček Jacob J. Michaelson Karen Pierce Eric Courchesne R. Frank Kooy John Acampado J. Andrea Alpha Amatya Irina Astrovskaya Asif Bashar Elizabeth Brooks Martin E. Butler Lindsey A. Cartner Wubin Chin Wendy K. Chung Amy M. Daniels Pamela Feliciano Chris Fleisch Swami Ganesan William B. Jensen Alex E. Lash Richard P. Marini Vincent J. Myers Eirene O’Connor Chris Rigby B. E. Robertson Neelay Shah Swapnil Shah Emily Singer LeeAnne Green Snyder Alexandra N. Stephens Jennifer Tjernagel Brianna M. Vernoia Natalia Volfovsky L. Casey White Alexander Hsieh Yufeng Shen Xueya Zhou Tychele N. Turner Ethan Bahl Taylor R. Thomas

Most genes associated with neurodevelopmental disorders (NDDs) were identified an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 16,294 NDD cases and additional 62 6,211 cases. By combining these published data, assess a total 125 over 16,000 compare to nonpsychiatric controls from ExAC. We identify 48 (25 newly reported) showing significant ultra-rare (MAF < 0.01%) gene-disruptive (FDR 5%), six which...

10.1038/s41467-020-18723-y article EN cc-by Nature Communications 2020-10-01

PurposeTo assess the contribution of rare variants in genetic background toward variability neurodevelopmental phenotypes individuals with copy-number (CNVs) and gene-disruptive variants.MethodsWe analyzed quantitative clinical information, exome sequencing, microarray data from 757 probands 233 parents siblings who carry disease-associated variants.ResultsThe number likely deleterious functionally intolerant genes (“other hits”) correlated expression 16p12.1 deletion (n=23, p=0.004) autism...

10.1038/s41436-018-0266-3 article EN cc-by-nc-nd Genetics in Medicine 2018-09-05

AnkyrinG, encoded by the ANK3 gene, is involved in neuronal development and signaling. It has previously been implicated bipolar disorder schizophrenia association studies. Most recently, de novo missense mutations this gene were identified autistic patients. However, causative nature of these remained controversial. Here, we report inactivating Ankyrin 3 (ANK3) patients with severe cognitive deficits. In a patient borderline intelligence, attention deficit hyperactivity (ADHD), autism...

10.1093/hmg/ddt043 article EN Human Molecular Genetics 2013-02-05

<h3>Background</h3> Chromosome 17p13.3 contains extensive repetitive sequences and is a recognised region of genomic instability. Haploinsufficiency <i>PAFAH1B1</i> (encoding LIS1) causes either isolated lissencephaly sequence or Miller–Dieker syndrome, depending on the size deletion. More recently, both microdeletions microduplications mapping to syndrome telomeric critical have been identified associated with distinct but overlapping phenotypes. <h3>Methods</h3> Genome-wide microarray...

10.1136/jmg.2009.069906 article EN Journal of Medical Genetics 2010-05-01
Anke Van Dijck Anneke T. Vulto‐van Silfhout Elisa Cappuyns Ilse M. van der Werf Grazia M.S. Mancini and 95 more Andreas Tzschach Raphael Bernier Illana Gozes Evan E. Eichler Corrado Romano Anna Lindstrand Ann Nordgren Malin Kvarnung Tjitske Kleefstra Bert B.A. de Vries Sébastien Küry Jill A. Rosenfeld Marije Meuwissen Geert Vandeweyer R. Frank Kooy Madhura Bakshi Meredith Wilson Yemina Berman Rebecca Dickson Erik Fransén Céline Helsmoortel Jenneke van den Ende Nathalie Van der Aa Marina J. van de Wijdeven Jessica Rosenblum Fabíola Paoli Monteiro Fernando Kok Nada Quercia Sarah Bowdin David A. Dyment David Chitayat Ebba Alkhunaizi Susanne E. Boonen Boris Keren Aurélia Jacquette Laurence Faivre Stéphane Bézieau Bertrand Isidor Angelika Rieß Ute Moog Sally Ann Lynch Terri McVeigh Orly Elpeleg Marie Falkenberg Smeland Madeleine Fannemel Arie van Haeringen Saskia M. Maas Hermine E. Veenstra‐Knol Meyke Schouten Marjolein H. Willemsen Carlo Marcelis Charlotte W. Ockeloen Ineke van der Burgt Ilse Feenstra Jasper van der Smagt Aleksandra Jezela‐Stanek Małgorzata Krajewska‐Walasek Domingo González‐Lamuño Britt‐Marie Anderlid Helena Malmgren Magnus Nordenskjöld Emma Clement Jane A. Hurst Kay Metcalfe Sahar Mansour Katherine Lachlan Jill Clayton‐Smith Laura G. Hendon Omar Abdul‐Rahman Eric M. Morrow Clare McMillan Jennifer Gerdts Joseph Peeden Samantha A. Schrier Vergano Caitlin Valentino Wendy K. Chung Jillian R. Ozmore Sandra Bedrosian‐Sermone Anna Dennis Kayla Treat Susan Hughes Nicole P. Safina Jean‐Baptiste Le Pichon Marianne McGuire Elena Infante Suneeta Madan‐Khetarpal Sonal Desai Paul J. Benke Alyson Krokosky Ingrid Cristian Laura Baker Karen W. Gripp Holly A.F. Stessman Jacob A. Eichenberger Parul Jayakar

10.1016/j.biopsych.2018.02.1173 article EN Biological Psychiatry 2018-03-15
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