Richard H van Jaarsveld - Dept Genet, Univ Med Ctr Utrecht

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论文共 49 篇作者统计合作学者相似作者

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MARK2 Variants Cause Autism Spectrum Disorder Via the Downregulation of WNT/β-catenin Signaling Pathway

Maolei Gong, Jiayi Li,Zailong Qin,Matheus Vernet Machado Bressan Wilke, Yijun Liu,Qian Li,Haoran Liu, Chen Liang, Joel A. Morales-Rosado,Ana S. A. Cohen,Susan S. Hughes,Bonnie R. Sullivan, Valerie Waddell,Marie-Jose H. van den Boogaard,Richard H. van Jaarsveld,Ellen van Binsbergen,Koen L. van Gassen,Tianyun Wang,Susan M. Hiatt,Michelle D. Amaral,Whitley Kelley,Jianbo Zhao,Weixing Feng,Changhong Ren,Yazhen Yu,Nicole J. Boczek,Matthew J. Ferber,Carrie Lahner,Sherr Elliott,Yiyan Ruan,Cyril Mignot,Boris Keren,Hua Xie,Xiaoyan Wang,Bernt Popp,Christiane Zweier,Juliette Piard,Christine Coubes,Frederic Tran Mau-Them,Hana Safraou,A. Micheil Innes,Julie Gauthier,Jacques L. Michaud,Daniel C. Koboldt,Odent Sylvie,Marjolaine Willems,Wen-Hann Tan,Benjamin Cogne,Claudine Rieubland,Dominique Braun,Scott Douglas Mclean,Konrad Platzer,Pia Zacher,Henry Oppermann,Lucie Evenepoel,Pierre Blanc,Laila El Khattabi,Neshatul Haque,Nikita R. Dsouza,Michael T. Zimmermann,Raul Urrutia,Eric W. Klee,Yiping Shen,Hongzhen Du,Leonard Rappaport,Chang-Mei Liu,Xiaoli Chen

AMERICAN JOURNAL OF HUMAN GENETICS（2024）

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Etiological Involvement of KCND1 Variants in an X-linked Neurodevelopmental Disorder with Variable Expressivity

Tassja Kalm,Claudia Schob, Hanna Voeller,Thatjana Gardeitchik,Christian Gilissen,Rolph Pfundt,Chiara Kloeckner,Konrad Platzer,Annick Klabunde-Cherwon,Markus Ries,Steffen Syrbe,Francesca Beccaria,Francesca Madia,Marcello Scala,Federico Zara,Floris Hofstede,Marleen E. H. Simon,Richard H. van Jaarsveld,Renske Oegema,Koen L. I. van Gassen,Sjoerd J. B. Holwerda,Tahsin Stefan Barakat,Arjan Bouman,Marjon van Slegtenhorst,Sara Alvarez,Alberto Fernandez-Jaen, Javier Porta,Andrea Accogli,Margherita Maria Mancardi,Pasquale Striano,Michele Iacomino,Jong-Hee Chae,SeSong Jang,Soo Y. Kim,David Chitayat,Saadet Mercimek-Andrews,Christel Depienne,Antje Kampmeier,Alma Kuechler,Harald Surowy,Enrico Silvio Bertini,Francesca Clementina Radio,Cecilia Mancini,Simone Pizzi,Marco Tartaglia, Lucas Gauthier,David Genevieve,Mylene Tharreau,Noy Azoulay, Gal Zaks-Hoffer, Nesia K. Gilad,Naama Orenstein,Genevieve Bernard,Isabelle Thiffault,Jonas Denecke,Theresia Herget,Fanny Kortum,Christian Kubisch,Robert Bahring,Stefan Kindler

The American Journal of Human Geneticsno. 6 (2024): 1206-1221

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MARK2 Variants Cause Autism Spectrum Disorder Via the Downregulation of WNT/β-catenin Signaling Pathway

Maolei Gong, Jiayi Li,Yijun Liu,Matheus Vernet Machado Bressan Wilke,Qian Li,Haoran Liu,Chen Liang,Joel A Morales-Rosado,Ana S.A. Cohen,Susan S. Hughes,Bonnie R. Sullivan, Valerie Waddell,Marie-José H. van den Boogaard,Richard H. van Jaarsveld,Ellen van Binsbergen,Koen L van Gassen,Tianyun Wang,Susan M. Hiatt,Michelle D. Amaral,Whitley V. Kelley,Jianbo Zhao,Weixing Feng,Changhong Ren,Yazhen Yu,Nicole J Boczek,Matthew J. Ferber,Carrie Lahner,Sherr Elliott,Yiyan Ruan,Mignot Cyril,Boris Keren,Hua Xie, Xiaoyan Wang,Bernt Popp,Christiane Zweier,Juliette Piard,Christine Coubes,Frederic Tran Mau-Them,Hana Safraou,Micheil Innes,Julie Gauthier,Jacques Michaud,Daniel C. Koboldt,Odent Sylvie,Marjolaine Willems,Wen-Hann Tan,Benjamin Cogne,Claudine Rieubland,Dominique Braun,Scott Douglas McLean,Konrad Platzer,Pia Zacher,Henry Oppermann,Lucie Evenepoel,Pierre Blanc,Laïla El Khattabi,Neshatul Haque,Nikita R. Dsouza,Michael T. Zimmermann,Raul Urrutia,Eric W Klee,Yiping Shen,Hongzhen Du,Zailong Qin,Chang-Mei Liu,Xiaoli Chen

medrxiv（2024）

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Identification of a Pathogenic Deep Intronic Variant in ATRX Ends a Diagnostic Odyssey

Jasper J. van der Smagt, Angeliki P. Lampri,Iris de Lange,Marielle Alders,Michiel L. Houben,Marco J. Koudijs,Richard H. van Jaarsveld

European Journal of Medical Genetics (2024): 104949-104949

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Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype

Babeth van Ommeren, Maud Hoekstra,Koen van Gassen,Richard van Jaarsveld,Gijs van Haaften,Irene Mathijssen, Ruben Dammers,Marie-Lise van Veelen, Rolanda Baars,Jacques C. Giltay

American journal of medical genetics Part Ano. 2 (2024): e63870-e63870

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The Clinical and Molecular Spectrum of the KDM6B-related Neurodevelopmental Disorder

Dmitrijs Rots,Taryn E. Jakub,Crystal Keung,Vissers E. L. M. Lisenka,Siddharth Banka,Rolph Pfundt,Bert B. A. de Vries,Richard H. van Jaarsveld,Saskia M. J. Hopman,Ellen van Binsbergen,Irene Valenzuela,Maja Hempel,Tatjana Bierhals,Fanny Kortuem,Francois Lecoquierre,Alice Goldenberg,Jens Michael Hertz,Charlotte Brasch Andersen,Maria Kibaek,Eloise J. Prijoles,Roger E. Stevenson,David B. Everman,Wesley G. Patterson,Linyan Meng,Charul Gijavanekar,Karl De Dios,Shenela Lakhani,Tess Levy,Matias Wagner,Dagmar Wieczorek,Paul J. Benke,Maria Soledad Lopez Garcia,Renee Perrier,Sergio B. Sousa,Pedro M. Almeida,Maria Jose Simoes,Bertrand Isidor,Wallid Deb,Andrew A. Schmanski,Omar Abdul-Rahman,Christophe Philippe,Ange-Line Bruel,Laurence Faivre,Antonio Vitobello,Christel Thauvin,Jeroen J. Smits,Livia Garavelli,Stefano G. Caraffi,Francesca Peluso,Laura Davis-Keppen, Dylan Platt,Erin Royer,Lisette Leeuwen,Margje Sinnema,Alexander P. A. Stegmann,Constance T. R. M. Stumpel,George E. Tiller,Danielle G. M. Bosch, Stephanus T. Potgieter,Shelagh Joss,Miranda Splitt,Simon Holden,Matina Prapa,Nicola Foulds,Sofia Douzgou,Kaija Puura,Regina Waltes,Andreas G. Chiocchetti,Christine M. Freitag,F. Kyle Satterstrom,Silvia De Rubeis,Joseph Buxbaum,Bruce D. Gelb,Aleksic Branko,Itaru Kushima,Jennifer Howe,Stephen W. Scherer,Alessia Arado,Chiara Baldo,Olivier Patat,Demeer Benedicte,Diego Lopergolo,Filippo M. Santorelli,Tobias B. Haack,Andreas Dufke,Miriam Bertrand,Ruth J. Falb,Angelika Riess,Peter Krieg,Stephanie Spranger,Maria Francesca Bedeschi,Maria Iascone,Sarah Josephi-Taylor,Tony Roscioli,Michael F. Buckley,Jan Liebelt,Aditi I. Dagli,Emmelien Aten,Anna C. E. Hurst, Alesha Hicks,Mohnish Suri,Ermal Aliu,Sunil Naik,Richard Sidlow,Juliette Coursimault,Gael Nicolas,Hanna Kuepper,Florence Petit, Veyan Ibrahim,Deniz Top,Francesca Di Cara,Raymond J. Louie,Elliot Stolerman,Han G. Brunner,Lisenka E. L. M. Vissers,Jamie M. Kramer,Tjitske Kleefstra

The American Journal of Human Geneticsno. 6 (2023): 963-978

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Old-fashioned dysmorphology, and the use of adjuvant techniques to reach a diagnosis in the whole exome sequencing era. An unusual ATRX case report

Jasper van der Smagt,Iris de lange, Michiel Houben, Marco Koudijs,Marielle Alders,Richard van Jaarsveld

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 224-225

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