R Frank Kooy (Frank Kooy, Frank R Kooy)

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2014-2023
Publications (10 Years): 33

Top Venues

European journal of human genetics : EJHG

Disease models & mechanisms

Clinical epigenetics

Journal of medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Rob Willemsen, R Frank Kooy
Mouse models of fragile X-related disorders. Disease models & mechanisms 16 (2) (2023)
Claudio Peter D'Incal, Kirsten Esther Van Rossem, Kevin De Man, Anthony Konings, Anke Van Dijck, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Illana Gozes, Wim Vanden Berghe, R Frank Kooy
Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism. Clinical epigenetics 15 (1) (2023)
Rob Willemsen, R Frank Kooy
Mouse models of fragile X-related disorders. Disease models & mechanisms 16 (2) (2023)
Rob Willemsen, R Frank Kooy
Mouse models of fragile X-related disorders. Disease models & mechanisms 16 (2) (2023)
Claudio Peter D'Incal, Kirsten Esther Van Rossem, Kevin De Man, Anthony Konings, Anke Van Dijck, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Illana Gozes, Wim Vanden Berghe, R Frank Kooy
Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism. Clinical epigenetics 15 (1) (2023)
Rob Willemsen, R Frank Kooy
Mouse models of fragile X-related disorders. Disease models & mechanisms 16 (2) (2023)
Claudio Peter D'Incal, Kirsten Esther Van Rossem, Kevin De Man, Anthony Konings, Anke Van Dijck, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Illana Gozes, Wim Vanden Berghe, R Frank Kooy
Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism. Clinical epigenetics 15 (1) (2023)
Alexander J M Dingemans, Max Hinne, Kim M G Truijen, Lia C M J Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J Diets, Joery den Hoed, Elke de Boer, Jet Coenen-van der Spek, Sandra Jansen, Bregje W van Bon, Noraly Jonis, Charlotte W Ockeloen, Anneke T Vulto-van Silfhout, Tjitske Kleefstra, David A Koolen, Philippe M Campeau, Emma Elizabeth Palmer, Hilde Van Esch, Gholson J Lyon, Fowzan Sami Alkuraya, Anita Rauch, Ronit Marom, Diana Baralle, Pleuntje J van der Sluijs, Gijs W E Santen, R Frank Kooy, Marcel A J van Gerven, Lisenka E L M Vissers, Bert B A de Vries
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework. Nature genetics (2023)
Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee, Laura Rohan, Emily Huber, Laila El Khattabi, Paolo Prontera, Jean-Hubert Caberg, Anke Van Dijck, Charles Schwartz, Laurence Faivre, Patrick Callier, Anne-Laure Mosca-Boidron, Mathilde Lefebvre, Kate Pope, Penny Snell, Paul J Lockhart, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Giuseppa Maria Luana Mandarà, Maria Grazia Bruccheri, Olivier Pichon, Cedric Le Caignec, Radka Stoeva, Silvestre Cuinat, Sandra Mercier, Claire Beneteau, Sophie Blesson, Ashley Nordsletten, Dominique Martin-Coignard, Erik A Sistermans, R Frank Kooy, David J Amor, Corrado Romano, Bertrand Isidor, Jane Juusola, Santhosh Girirajan
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants. medRxiv : the preprint server for health sciences (2023)
Rob Willemsen, R Frank Kooy
Mouse models of fragile X-related disorders. Disease models & mechanisms 16 (2) (2023)
Flora Tassone, Dragana D Protic, Emily Graves Allen, Alison Dalton Archibald, Anna Baud, Ted W Brown, Dejan B Budimirovic, Jonathan Cohen, Brett Dufour, Rachel Eiges, Nicola Elvassore, Lidia V Gabis, Samantha J Grudzien, Deborah A Hall, David R Hessl, Abigail Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, Jessica Klusek, R Frank Kooy, Claudine M Kraan, Cecilia Laterza, Andrea Lee, Karen Lipworth, Molly Losh, Danuta Z Loesch, Reymundo Lozano, Marsha R Mailick, Apostolos Manolopoulos, Veronica Martinez-Cerdeno, Yingratana McLennan, Robert M Miller, Federica Alice Maria Montanaro, Matthew W Mosconi, Sarah Nelson Potter, Melissa Raspa, Susan M Rivera, Katharine Shelly, Peter K Todd, Katarzyna Tutak, Jun Yi Wang, Anne Wheeler, Tri Indah Winarni, Marwa Zafarullah, Randi J Hagerman
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation. Cells 12 (18) (2023)
Claudio Peter D'Incal, R Frank Kooy
ADNP in reverse gear. European journal of human genetics : EJHG (2023)
Claudio Peter D'Incal, Jitse Broos, Thierry Torfs, R Frank Kooy, Wim Vanden Berghe
Towards Kinase Inhibitor Therapies for Fragile X Syndrome: Tweaking Twists in the Autism Spectrum Kinase Signaling Network. Cells 11 (8) (2022)
Dale John Annear, Geert Vandeweyer, Alba Sanchis-Juan, F Lucy Raymond, R Frank Kooy
Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism. Genome research (2022)
Erika D'haenens, Sarah Vergult, Björn Menten, Annelies Dheedene, R Frank Kooy, Bert Callewaert
Expanding the Phenotype of B3GALNT2-Related Disorders. Genes 13 (4) (2022)
R Frank Kooy
ZNF711 puts a spell on DNA. European journal of human genetics : EJHG 30 (4) (2022)
Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Zoe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombe, Chloé Angelini, Vincent Michaud, Julien Van-Gils, Nino Spataro, Anna Ruiz, Elizabeth Gabau, Elliot S Stolerman, Camerun Washington, Ray Louie, Brendan C Lanpher, Jennifer L Kemppainen, Micheil Innes, R Frank Kooy, Marije Meuwissen, Alice Goldenberg, Francois Lecoquierre, Gabriella Vera, Karin E M Diderich, Beth Sheidley, Christelle Moufawad El Achkar, Meredith Park, Fadi F Hamdan, Jacques L Michaud, Ann J Lewis, Christiane Zweier, André Reis, Matias Wagner, Heike Weigand, Hubert Journel, Boris Keren, Sandrine Passemard, Cyril Mignot, Koen van Gassen, Eva H Brilstra, Gina Itzikowitz, Emily O'Heir, Jake Allen, Kirsten A Donald, Bruce Richard Korf, Tammi Skelton, Michelle Thompson, Nathaniel H Robin, Natasha L Rudy, William B Dobyns, Kimberly Foss, Yuri Alexander Zarate, Katherine A Bosanko, Yves Alembik, Benjamin Durand, Frederic Tran Mau-Them, Emmanuelle Ranza, Xavier Blanc, Stylianos E Antonarakis, Kirsty McWalter, Erin Torti, Francisca Millan, Amy Dameron, Mari Tokita, Michael T Zimmermann, Eric W Klee, Amelie Piton, Benedicte Gerard
<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability. Journal of medical genetics 59 (10) (2021)
Ilse M van der Werf, Sandra Jansen, Petra F de Vries, Amber Gerstmans, Maartje van de Vorst, Anke Van Dijck, Bert B A de Vries, Christian Gilissen, Alexander Hoischen, Lisenka E L M Vissers, R Frank Kooy, Geert Vandeweyer
Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders. European journal of human genetics : EJHG 28 (12) (2020)
Carolina Alvarez, Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch, Bert Callewaert, Patrick Calvas, Berten Ceulemans, Nicolas Chassaing, Christel Depienne, Milda Endziniene, Carlos R Ferreira, Carolina Fischinger Moura de Souza, Cécile Freihuber, Shiva Ganesan, Svetlana Gataullina, Renzo Guerrini, Anne-Marie Guerrot, Lars Hansen, Aleksandra Jezela-Stanek, Caroline Karsenty, Anneke Kievit, R Frank Kooy, Christian M Korff, Johanne Kragh Hansen, Martin Larsen, Valérie Layet, Gaëtan Lesca, Kim L McBride, Marije Meuwissen, Cyril Mignot, Martino Montomoli, Hannah Moore, Sophie Naudion, Caroline Nava, Marie-Christine Nougues, Elena Parrini, Matthew Pastore, Jurgen H Schelhaas, Steven Skinner, Krzysztoł Szczałuba, Ashley Thomas, Mads Thomassen, Lisbeth Tranebjaerg, Marjon van Slegtenhorst, Lynne A Wolfe, Dennis Lal, Elena Gardella, Lilian Bomme Ousager, Tobias Brünger, Ingo Helbig, Peter Krawitz, Rikke Steensjerre Moller
Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia 61 (6) (2020)
Iris Grigg, Yanina Ivashko-Pachima, Tom Aharon Hait, Vlasta Korenková, Olga Touloumi, Roza Lagoudaki, Anke van Dijck, Zlatko Marusic, Mirna Anicic, Jurica Vukovic, R Frank Kooy, Nikolaos Grigoriadis, Illana Gozes
Tauopathy in the young autistic brain: novel biomarker and therapeutic target. Translational psychiatry 10 (1) (2020)
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P Coe, Madelyn A Gillentine, Amy B Wilfert, Luis A Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K Earl, Jill Anne Rosenfeld, Madeleine R Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee 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 McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J V Hoffer, Barbara Franke, Gerarda Cappuccio, Martin 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, null null, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A Bernier, Jozef Gecz, Kun Xia, Evan E Eichler
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature communications 11 (1) (2020)
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P Coe, Madelyn A Gillentine, Amy B Wilfert, Luis A Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K Earl, Jill Anne Rosenfeld, Madeleine R Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee 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 McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J V Hoffer, Barbara Franke, Gerarda Cappuccio, Martin 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, null null, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A Bernier, Jozef Gecz, Kun Xia, Evan E Eichler
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature communications 11 (1) (2020)
David G Amaral, George M Anderson, Anthony Bailey, Raphe Bernier, Somer Bishop, Gene Blatt, Ricardo Canal-Bedia, Tony Charman, Geraldine Dawson, Petrus J de Vries, Emanuel Dicicco-Bloom, Cheryl Dissanayake, Yoko Kamio, Rajesh K Kana, Naila Z Khan, Allison Knoll, R Frank Kooy, Janet Lainhart, Pat Levitt, Katherine Loveland, Nancy Minshew, Ralph-Axel Müller, Declan Murphy, Peter Mundy, Sara Palencia, Jennifer Pinto-Martin, Alexia Rattazzi, Sally Rogers, Wendy L Stone, Sara Jane Webb, Andrew Whitehouse
Gaps in Current Autism Research: The Thoughts of the Autism Research Editorial Board and Associate Editors. Autism research : official journal of the International Society for Autism Research 12 (5) (2019)
Aia Elise Jønch, Elise Douard, Clara Moreau, Anke Van Dijck, Marzia Passeggeri, R Frank Kooy, Jacques Puechberty, Carolyn Campbell, Damien Sanlaville, Henrietta Lefroy, Sonia Richetin, Aurelie Pain, David Geneviève, Usha Kini, Cédric Le Caignec, James Lespinasse, Anne-Bine Skytte, Bertrand Isidor, Christiane Zweier, Jean-Hubert Caberg, Marie-Ange Delrue, Rikke Steensbjerre Møller, Anders Bojesen, Helle Hjalgrim, Charlotte Brasch-Andersen, Emmanuelle Lemyre, Lilian Bomme Ousager, Sebastien Jacquemont, null null
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice. Journal of medical genetics 56 (10) (2019)
Sandra Jansen, Ilse M van der Werf, A Micheil Innes, Alexandra Afenjar, Pankaj B Agrawal, Ilse J Anderson, Paldeep S Atwal, Ellen van Binsbergen, Marie-José van den Boogaard, Lucia Castiglia, Zeynep H Coban-Akdemir, Anke van Dijck, Diane Doummar, Albertien M van Eerde, Anthonie J van Essen, Koen L van Gassen, Maria J Guillen Sacoto, Mieke M van Haelst, Ivan Iossifov, Jessica L Jackson, Elizabeth Judd, Charu Kaiwar, Boris Keren, Eric W Klee, Jolien S Klein Wassink-Ruiter, Marije E Meuwissen, Kristin G Monaghan, Sonja A de Munnik, Caroline Nava, Charlotte W Ockeloen, Rosa Pettinato, Hilary Racher, Tuula Rinne, Corrado Romano, Victoria R Sanders, Rhonda E Schnur, Eric J Smeets, Alexander P A Stegmann, Asbjørg Stray-Pedersen, David A Sweetser, Paulien A Terhal, Kristian Tveten, Grace E VanNoy, Petra F de Vries, Jessica L Waxler, Marcia Willing, Rolph Pfundt, Joris A Veltman, R Frank Kooy, Lisenka E L M Vissers, Bert B A de Vries
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. European journal of human genetics : EJHG 27 (5) (2019)
Yanina Ivashko-Pachima, Adva Hadar, Iris Grigg, Vlasta Korenková, Oxana Kapitansky, Gidon Karmon, Michael Gershovits, C Laura Sayas, R Frank Kooy, Johannes Attems, David Gurwitz, Illana Gozes
Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study. Molecular psychiatry 26 (5) (2019)
Antonietta Coppola, Elena Cellini, Hannah Stamberger, Elmo Saarentaus, Valentina Cetica, Dennis Lal, Tania Djémié, Magdalena Bartnik-Glaska, Berten Ceulemans, J Helen Cross, Tine Deconinck, Salvatore De Masi, Thomas Dorn, Renzo Guerrini, Dorotha Hoffman-Zacharska, R Frank Kooy, Lieven Lagae, Nicholas Lench, Johannes R Lemke, Ersilia Lucenteforte, Francesca Madia, Heather C Mefford, Deborah Morrogh, Peter Nuernberg, Aarno Palotie, An-Sofie Schoonjans, Pasquale Striano, Elzbieta Szczepanik, Anna Tostevin, Joris R Vermeesch, Hilde Van Esch, Wim Van Paesschen, Jonathan J Waters, Sarah Weckhuysen, Federico Zara, Peter De Jonghe, Sanjay M Sisodiya, Carla Marini, null null, null null
Diagnostic implications of genetic copy number variation in epilepsy plus. Epilepsia 60 (4) (2019)
Julie Voet, Berten Ceulemans, R Frank Kooy, Marije E C Meuwissen
PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. American journal of medical genetics. Part A 182 (3) (2019)
Elisa Cappuyns, Jolien Huyghebaert, Geert Vandeweyer, R Frank Kooy
Mutations in ADNP affect expression and subcellular localization of the protein. Cell cycle (Georgetown, Tex.) 17 (9) (2018)
Madeleine R Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P Coe, Tychele N Turner, Holly A F Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend, Jan Liebelt, Christopher Barnett, Elizabeth M Thompson, Eric A Haan, Hui Guo, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Geert Vandeweyer, Antonino Alberti, Emanuela Avola, Mirella Vinci, Stefania Giusto, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, Jacob J Michaelson, Zdenek Sedlacek, Gijs W E Santen, Hilde Peeters, Hakon Hakonarson, Eric Courchesne, Corrado Romano, R Frank Kooy, Raphael A Bernier, Magnus Nordenskjöld, Jozef Gecz, Kun Xia, Larry S Zweifel, Evan E Eichler
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nature neuroscience 20 (8) (2017)
Holly A F Stessman, Bo Xiong, Bradley P Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fenckova, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N Turner, Gijs Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, Christopher Barnett, Eric Haan, Marie Shaw, Jozef Gecz, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Charles Schwartz, R Frank Kooy, Geert Vandeweyer, Celine Helsmoortel, Corrado Romano, Antonino Alberti, Mirella Vinci, Emanuela Avola, Stefania Giusto, Eric Courchesne, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, David G Amaral, Ingrid E Scheffer, Martin B Delatycki, Paul J Lockhart, Fereydoun Hormozdiari, Benjamin Harich, Anna Castells-Nobau, Kun Xia, Hilde Peeters, Magnus Nordenskjöld, Annette Schenck, Raphael A Bernier, Evan E Eichler
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nature genetics 49 (4) (2017)
Salima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean-Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot-Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, R Frank Kooy, Miroslava Hančárová, Marketa Havlovicová, Darina Prchalová, Zdenek Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S Klein Wassink-Ruiter, Laurence Faivre
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. European journal of human genetics : EJHG 25 (1) (2016)
Gea Beunders, Jiddeke van de Kamp, Pradeep Vasudevan, Jenny Morton, Katrien Smets, Tjitske Kleefstra, Sonja A de Munnik, Janneke Schuurs-Hoeijmakers, Berten Ceulemans, Marcella Zollino, Sabine Hoffjan, Stefan Wieczorek, Joyce So, Leanne Mercer, Tanya Walker, Lea Velsher, null null, Michael J Parker, Alex C Magee, Bart Elffers, R Frank Kooy, Helger G Yntema, Elizabeth J Meijers-Heijboer, Erik A Sistermans
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. Journal of medical genetics 53 (8) (2016)
Gea Beunders, Sonja A de Munnik, Nathalie Van der Aa, Berten Ceulemans, Els Voorhoeve, Alexander J Groffen, Willy M Nillesen, Elizabeth J Meijers-Heijboer, R Frank Kooy, Helger G Yntema, Erik A Sistermans
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome. European journal of human genetics : EJHG 23 (6) (2014)

R Frank Kooy.css-eqlu8i{font-size:small;padding-left:4px;} (Frank Kooy, Frank R Kooy)

Publication Activity (10 Years)

Top Topics

Top Venues

R Frank Kooy (Frank Kooy, Frank R Kooy)