Frank Kooy

基本信息

Career Trajectory

Bio

Fields of Scholarship
Fragile X syndrome
Mouse genetics
Human genetics
Medical genetics
Intellectual disability
Autism
Dynamic mutations

Honours and Awards
2020 Secected as promotor of the GENOMED center of excellence with Methusalem finance
2019 Coordinator of the EC-Funded ERA-NET Neuron network “ADNPinMED” (2019 - 2022)
2016 Selected Editorial board member of Autism Research, the leading autism journal
2016 Coordinator of the EC-Funded ERA-NET Neuron network “AUTISYN” (2016 - 2018)
2015 Secected as promotor of the GENOMED center of excellene 2015

Research Interests

Papers共 309 篇Author StatisticsCo-AuthorSimilar Experts

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ADNP Dysregulates Methylation and Mitochondrial Gene Expression in the Cerebellum of a Helsmoortel–Van Der Aa Syndrome Autopsy Case

Claudio D’Incal,Anke Van Dijck,Joe Ibrahim,Kevin De Man, Lina Bastini,Anthony Konings,Ellen Elinck, Claudia Theys, Illana Gozes,Zlatko Marusic,Mirna Anicic,Jurica Vukovic,Nathalie Van der Aa,Ligia Mateiu,Wim Vanden Berghe,R. Frank Kooy

Acta Neuropathologica Communicationsno. 1 (2024): 1-2

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Identification of a DLG3 Stop Mutation in the MRX20 Family

Jolien Huyghebaert,Ligia Mateiu,Ellen Elinck,Kirsten Esther Van Rossem, Bregje Christiaenssen,Claudio Peter D’Incal,Michael K. McCormack,Alice Lazzarini,Geert Vandeweyer,R. Frank Kooy

European Journal of Human Genetics（2024）

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Burden Re-Analysis of Neurodevelopmental Disorder Cohorts for Prioritization of Candidate Genes

Noor Smal,Fatma Majdoub,Katrien Janssens,Edwin Reyniers,Marije E. C. Meuwissen,Berten Ceulemans,Hope Northrup, Jeremy B. Hill, Lingying Liu,Edoardo Errichiello,Simone Gana,Alanna Strong,Luis Rohena,Rachel Franciskovich,Chaya N. Murali, An Huybrechs, Telma Sulem,Run Fridriksdottir,Patrick Sulem,Kari Stefansson, Yan Bai,Jill A. Rosenfeld,Seema R. Lalani,Haley Streff,R. Frank Kooy,Sarah Weckhuysen

EUROPEAN JOURNAL OF HUMAN GENETICS (2024)

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Genetic Modifiers and Ascertainment Drive Variable Expressivity of Complex Disorders

Matthew Jensen,Corrine Smolen,Anastasia Tyryshkina,Lucilla Pizzo,Deepro Banerjee, Matthew Oetjens,Hermela Shimelis,Cora M Taylor,Vijay Kumar Pounraja,Hyebin Song,Laura Rohan,Emily Huber,Laila El Khattabi,Ingrid van de Laar,Rafik Tadros,Connie Bezzina,Marjon van Slegtenhorst,Janneke Kammeraad,Paolo Prontera,Jean-Hubert Caberg, Harry Fraser, Siddhartha Banka,Anke Van Dijck,Charles Schwartz,Els Voorhoeve,Patrick Callier,Anne-Laure Mosca-Boidron,Nathalie Marle,Mathilde Lefebvre,Kate Pope,Penny Snell,Amber Boys,Paul J Lockhart,Myla Ashfaq,Elizabeth McCready, Margaret Nowacyzk,Lucia Castiglia,Ornella Galesi,Emanuela Avola,Teresa Mattina,Marco Fichera, Maria Grazia Bruccheri,Giuseppa Maria Luana Mandarà,Francesca Mari,Flavia Privitera,Ilaria Longo,Aurora Curró,Alessandra Renieri,Boris Keren,Perrine Charles,Silvestre Cuinat,Mathilde Nizon,Olivier Pichon,Claire Bénéteau,Radka Stoeva,Dominique Martin-Coignard, Sophia Blesson,Cedric Le Caignec,Sandra Mercier,Marie Vincent,Christa Martin,Katrin Mannik,Alexandre Reymond,Laurence Faivre,Erik Sistermans,R Frank Kooy,David J Amor,Corrado Romano,Joris Andrieux,Santhosh Girirajan

medRxiv the preprint server for health sciences (2024)

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Expanded Phenotypic Spectrum of Neurodevelopmental and Neurodegenerative Disorder Bryant-Li-Bhoj Syndrome with 38 Additional Individuals

Dana E. Layo-Carris,Emily E. Lubin,Annabel K. Sangree,Kelly J. Clark,Emily L. Durham,Elizabeth M. Gonzalez, Sarina Smith,Rajesh Angireddy, Xiao Min Wang, Erin Weiss,Roberto Mendoza-Londono,Lucie Dupuis,Nadirah Damseh,Danita Velasco,Irene Valenzuela,Marta Codina-Sola,Catherine Ziats, Jaclyn Have,Katie Clarkson,Dora Steel,Manju Kurian,Katy Barwick, Diana Carrasco,Aditi I. Dagli,M. J. M. Nowaczyk,Miroslava Hancarova,Sarka Bendova,Darina Prchalova,Zdenek Sedlacek, Alica Baxova,Catherine Bearce Nowak,Jessica Douglas,Wendy K. Chung,Nicola Longo,Konrad Platzer,Chiara Kloeckner,Luisa Averdunk,Dagmar Wieczorek,Ilona Krey,Christiane Zweier,Andre Reis,Tugce Balci,Marleen Simon,Hester Y. Kroes,Antje Wiesener,Georgia Vasileiou,Nikolaos M. Marinakis,Danai Veltra,Christalena Sofocleous,Konstantina Kosma,Joanne Traeger Synodinos, Konstantinos A. Voudris,Marie-Laure Vuillaume,Paul Gueguen,Nicolas Derive,Estelle Colin, Clarisse Battault,Billie Au,Martin Delatycki,Mathew Wallis,Lyndon Gallacher,Fatma Majdoub,Noor Smal,Sarah Weckhuysen,An-Sofie Schoonjans,R. Frank Kooy,Marije Meuwissen,Benjamin T. Cocanougher,Kathryn Taylor,Carolyn E. Pizoli,Marie T. McDonald, Philip James,Elizabeth R. Roeder,Rebecca Littlejohn,Nicholas A. Borja,Willa Thorson, Kristine King,Radka Stoeva,Manon Suerink,Esther Nibbeling, Stephanie Baskin, Gwenael L. E. Guyader,Julie Kaplan,Candace Muss,Deanna Alexis Carere,Elizabeth J. K. Bhoj,Laura M. Bryant

EUROPEAN JOURNAL OF HUMAN GENETICS (2024)

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Loss-of-function of Activity-Dependent Neuroprotective Protein (ADNP) by a Splice-Acceptor Site Mutation Causes Helsmoortel–Van Der Aa Syndrome

Claudio Peter D’Incal, Dale John Annear,Ellen Elinck,Jasper J. van der Smagt,Mariëlle Alders,Alexander J. M. Dingemans,Ligia Mateiu,Bert B. A. de Vries,Wim Vanden Berghe,R. Frank Kooy

EUROPEAN JOURNAL OF HUMAN GENETICSno. 6 (2024): 630-638

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Tracing the Invisible Mutant ADNP Protein in Helsmoortel- Van Der Aa Syndrome Patients

Claudio Peter D'Incal,Elisa Cappuyns, Kaoutar Choukri,Kevin De Man, Kristy Szrama,Anthony Konings, Lina Bastini, Kim Van Meel, Amber Buys,Michele Gabriele,Ludovico Rizzuti,Alessandro Vitriolo,Giuseppe Testa,Fabio Mohn,Marc Buhler,Nathalie van der Aa,Anke Van Dijck,R. Frank Kooy,Wim Vanden Berghe

SCIENTIFIC REPORTSno. 1 (2024)

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A paracentric inversion that disrupts the SHANK2 gene resolved using cytogenomics

Jenneke van den Ende,Jolien Huyghebaert,Ligia Monica Mateiu,Geert Vandeweyer,Frank Kooy

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 276-277

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Papers共 309 篇Author StatisticsCo-AuthorSimilar Experts