Els K. Vanhoutte - Med Ctr, Radboud Univ Nijmegen

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论文共 26 篇作者统计合作学者相似作者

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Comprehensive EHMT1 Variants Analysis Broadens Genotype-Phenotype Associations and Molecular Mechanisms in Kleefstra Syndrome

Dmitrijs Rots,Arianne Bouman,Ayumi Yamada,Michael Levy,Alexander J. M. Dingemans,Bert B. A. de Vries,Martina Ruiterkamp-Versteeg,Nicole de Leeuw,Charlotte W. Ockeloen,Rolph Pfundt,Elke de Boer,Joost Kummeling,Bregje van Bon, Hans van Bokhoven,Nael Nadif Kasri,Hanka Venselaar,Marielle Alders,Jennifer Kerkhof,Haley McConkey,Alma Kuechler, Bart Elffers, Rixje van Beeck Calkoen, Susanna Hofman, Audrey Smith, Maria Irene Valenzuela, Siddharth Srivastava,Zoe Frazier,Isabelle Maystadt,Carmelo Piscopo, Giuseppe Merla, Meena Balasubramanian,Gijs W. E. Santen,Kay Metcalfe,Soo-Mi Park, Laurent Pasquier, Siddharth Banka, Dian Donnai,Daniel Weisberg, Gertrud Strobl-Wildemann,Annemieke Wagemans,Maaike Vreeburg, Diana Baralle,Nicola Foulds,Ingrid Scurr, Nicola Brunetti-Pierri,Johanna M. van Hagen, Emilia K. Bijlsma, Anna H. Hakonen,Carolina Courage, David Genevieve,Lucile Pinson, Francesca Forzano,Charu Deshpande, Maria L. Kluskens, Lindsey Welling,Astrid S. Plomp,Els K. Vanhoutte,Louisa Kalsner, Janna A. Hol,Audrey Putoux, Johanna Lazier,Pradeep Vasudevan, Elizabeth Ames, Jessica O'Shea,Damien Lederer,Julie Fleischer, Mary O'Connor, Melissa Pauly,Georgia Vasileiou, Andre Reis, Catherine Kiraly-Borri,Arjan Bouman, Chris Barnett,Marjan Nezarati, Lauren Borch,Gea Beunders, Kubra Ozcan, Stephanie Miot,Catharina M. L. Volker-Touw,Koen L. I. van Gassen, Gerarda Cappuccio, Katrien Janssens,Nofar Mor, Inna Shomer,Dan Dominissini,Matthew L. Tedder,Alison M. Muir, Bekim Sadikovic, Han G. Brunner, Lisenka E. L. M. Vissers, Yoichi Shinkai, Tjitske Kleefstra

AMERICAN JOURNAL OF HUMAN GENETICSno. 8 (2024): 1605-1625

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Clinical Exome Sequencing Data from Patients with Inborn Errors of Immunity: Cohort Level Diagnostic Yield and the Benefit of Systematic Reanalysis

Emil E. Vorsteveld,Caspar I. Van der Made,Sanne P. Smeekens,Janneke H. Schuurs-Hoeijmakers,Galuh Astuti, Heleen Diepstra,Christian Gilissen, Evelien Hoenselaar, Alice Janssen, Kees van Roozendaal,Jettie Sikkema-van Engelen,Wouter Steyaert,Marjan M. Weiss,Helger G. Yntema,Tuomo Mantere,Mofareh S. Alzahrani,Koen van Aerde,Beata Derfalvi,Eissa Ali Faqeih,Stefanie S. V. Henriet, Elise van Hoof, Eman Idressi,Thomas B. Issekutz,Marjolijn C. J. Jongmans,Riikka Keski-Filppula,Ingrid Krapels,Maroeska te Loo,Catharina M. Mulders-Manders,Jaap ten Oever,Judith Potjewijd, Nora Tarig Sarhan, Marjan C. Slot,Paulien A. Terhal, Herman Thijs,Anthony Vandersteen,Els K. Vanhoutte,Frank van de Veerdonk,Gijs van Well,Mihai G. Netea,Annet Simons,Alexander Hoischen

CLINICAL IMMUNOLOGY (2024)

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Diagnostic and Prognostic Relevance of Using Large Gene Panels in the Genetic Testing of Patients with Dilated Cardiomyopathy

Sophie L. V. M. Stroeks,Debby Hellebrekers,Godelieve R. F. Claes,Ingrid P. C. Krapels,Michiel H. T. M. Henkens,Maurits Sikking,Els K. Vanhoutte,Apollonia Helderman-van den Enden,Han G. Brunner,Arthur van den Wijngaard,Job A. J. Verdonschot

EUROPEAN JOURNAL OF HUMAN GENETICS（2023）

引用2浏览0WOSNATURE引用

Prevalence of Intronic Repeat Expansions in RFC1 in Dutch Patients with CANVAS and Adult-Onset Ataxia

Ghorbani Fatemeh,de Boer-Bergsma Jelkje,Verschuuren-Bemelmans Corien C.,Pennings Maartje,de Boer Eddy N.,Kremer Berry,Vanhoutte Els K.,de Vries Jeroen J.,van de Berg Raymond,Kamsteeg Erik-Jan,van Diemen Cleo C.,Westers Helga,van de Warrenburg Bart P.,Verbeek Dineke S.

Journal of neurology（2022）

引用8浏览0WOS引用

Clinical Impact of Re-Evaluating Genes and Variants Implicated in Dilated Cardiomyopathy

Sophie L. V. M. Stroeks,Debby M. E. I. Hellebrekers,Godelieve R. F. Claes,Upasana Tayal,Ingrid P. C. Krapels,Els K. Vanhoutte,Arthur van den Wijngaard,Michiel T. H. M. Henkens,James S. Ware,Stephane R. B. Heymans,Han G. Brunner,Job A. J. Verdonschot

Genetics in Medicine（2021）

引用18浏览0WOS引用

Implications of Genetic Testing in Dilated Cardiomyopathy

Job A. J. Verdonschot,Mark R. Hazebroek,Ingrid P. C. Krapels,Michiel T. H. M. Henkens,Anne Raafs,Ping Wang,Jort J. Merken,Godelieve R. F. Claes,Els K. Vanhoutte,Arthur van den Wijngaard,Stephane R. B. Heymans,Han G. Brunner

Circulation Genomic and Precision Medicine（2020）

引用57浏览0WOS引用

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