Concepedia

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

Aafke Engwerda, Erika Leenders, Barbara Frentz, Paulien A. Terhal, Katharina Löhner, Bert B.A. de Vries, Trijnie Dijkhuizen, Yvonne J. Vos, Tuula Rinne, Maarten P. van den Berg,

European Journal of Human Genetics · 2021 · 31 citations · 28 references

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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon et al. · New England Journal of Medicine · 2012 · 1.6K citations · Full text

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Clinical and molecular studies in a large Dutch family with Noonan syndrome

Ineke van der Burgt, E. M. Berends, Ed J. P. Lommen et al. · American Journal of Medical Genetics · 1994 · 284 citations

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Next-generation sequencing identifies rare variants associated with Noonan syndrome

Peng‐Chieh Chen, Jiani C. Yin, Hui-Wen Yu et al. · Proceedings of the National Academy of Sciences · 2014 · 187 citations · Full text

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Genetic Basis of Severe Childhood-Onset Cardiomyopathies

Catalina Vasilescu, Tiina Ojala, Virginia Brilhante et al. · Journal of the American College of Cardiology · 2018 · 161 citations

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The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button

Morris A. Swertz, Martijn Dijkstra, Tomasz Adamusiak et al. · BMC Bioinformatics · 2010 · 158 citations · Full text

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