Frank Kooy emeritus met opdracht

Publicaties Frank Kooy

Unexpected high prevalence of focal facial dermal dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population

Bron
Clinical genetics - ISSN 0009-9163- (2025) p.
Auteur(s)
    Aude Beyens, Stefanie van de Voorde, Marta Guerreiro Santano Ramos Da Silva, Sofie De Meulemeester, Koen Devriendt, Marleen Goeteyn, Sandra Janssens, Frank Kooy, Toon Rosseel, Sofie Symoens, Frederik Jan Hes, Kathelijn Keymolen, Boyan Dimitrov, Bert Callewaert

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes

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European journal of human genetics - ISSN 1018-4813- (2024) p.
Auteur(s)
    Noor Smal, Fatma Majdoub, Katrien Janssens, Edwin Reyniers, Marije 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, Frank Kooy, Sarah Weckhuysen

Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals

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Nature medicine - ISSN 1078-8956-30 (2024) p. 1994-2003
Auteur(s)
    Alexander J.M. Dingemans, Sandra Jansen, Jeroen van Reeuwijk, Nicole de Leeuw, Rolph Pfundt, Janneke Schuurs-Hoeijmakers, Bregje W. van Bon, Carlo Marcelis, Charlotte W. Ockeloen, Marjolein Willemsen, Pleuntje J. van der Sluijs, Gijs W.E. Santen, Frank Kooy, Anneke T. Vulto-van Silfhout, Tjitske Kleefstra, David A. Koolen, Lisenka E.L.M. Vissers, Bert B.A. de Vries

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Bron
European journal of human genetics - ISSN 1018-4813-32 (2024) p. 928-937
Auteur(s)
    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-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I. Dagli, M.J.M. Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdeněk Sedláček, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K. Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, Andre Reis, Tugce Balci, Marleen Simon, Hester Y. Kroes, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, Frank Kooy, Marije Meuwissen, Laura M. Bryant