Robert Ernst

Research Analyst

Contact

r.f.ernst-3@umcutrecht.nl

Pure profile

Recent publications

All publications

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias Frederike L. Harms, Alexander J.M. Dingemans, Maja Hempel, Rolph Pfundt, Tatjana Bierhals, Christian Casar, Christian Müller, Jikke Mien F. Niermeijer, Jan Fischer, Arne Jahn, Christoph Hübner, Silvia Majore, Emanuele Agolini, Antonio Novelli, Jasper van der Smagt, Robert Ernst, Ellen van Binsbergen, Grazia M.S. Mancini, Marjon van Slegtenhorst, Tahsin S. Barakat, Emma L. Wakeling, Arveen Kamath, Lilian Downie, Lynn Pais, Susan M. White, Bert B.A. de Vries, Kerstin Kutsche
Genetics in Medicine, 2023, vol. 25

Recombinant Interleukin-1 Receptor antagonist is an effective first-line treatment strategy in new-onset systemic Juvenile Idiopathic Arthritis, irrespective of HLA-DRB1 background and IL1RN variants Remco G A Erkens, Jorg J A Calis, Anouk Verwoerd, Sytze De Roock, Nienke M Ter Haar, Gerda Den Engelsman, Lars T Van der Veken, Robert F Ernst, Hanneke W M Van Deutekom, Alex Pickering, Rianne C Scholman, Marc H A Jansen, Joost F Swart, Rashmi Sinha, Johannes Roth, Grant S Schulert, Alexei A Grom, Jorg Van Loosdregt, Sebastiaan J Vastert
Arthritis & Rheumatology, 2023, vol. 76, p.119-129

Identification of novel genetic risk factors of dilated cardiomyopathy Julia E Niskanen, Åsa Ohlsson, Ingrid Ljungvall, Michaela Drögemüller, Robert F Ernst, Dennis Dooijes, Hanneke W M van Deutekom, J Peter van Tintelen, Christian J B Snijders Blok, Marion van Vugt, Jessica van Setten, Folkert W Asselbergs, Aleksandra Domanjko Petrič, Milla Salonen, Sruthi Hundi, Matthias Hörtenhuber, Juha Kere, W Glen Pyle, Jonas Donner, Alex V Postma, Tosso Leeb, Göran Andersson, Marjo K Hytönen, Jens Häggström, Maria Wiberg, Jana Friederich, Jenny Eberhard, Magdalena Harakalova, Frank G van Steenbeek, Gerhard Wess, Hannes Lohi,
Genome Medicine, 2023, vol. 15

Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies Stephanie M van der Voorn, Esmée van Drie, Virginnio Proost, Kristina Dimitrova, Netherlands Acm/Pln Registry, Robert F Ernst, Cynthia A James, Crystal Tichnell, Brittney Murray, Hugh Calkins, Ardan M Saguner, Firat Duru, Patrick T Ellinor, Connie R Bezzina, Sean J Jurgens, J Peter van Tintelen, Toon A B van Veen
International Journal of Molecular Sciences, 2023, vol. 24

Genetics-first approach improves diagnostics of ESKD patients <50 years old Rozemarijn Snoek, Richard H van Jaarsveld, Tri Q Nguyen, Edith D J Peters, Martin G Elferink, Robert F Ernst, Maarten B Rookmaaker, Marc R Lilien, Eric Spierings, Roel Goldschmeding, Nine V A M Knoers, Bert van der Zwaag, Arjan D van Zuilen, Albertien M van Eerde
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2020, vol. 37, p.349-357

National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies Kim Elsink, Manon M H Huibers, Iris H I M Hollink, Lars T van der Veken, Robert F Ernst, Annet Simons, Evelien Zonneveld-Huijssoon, Annemieke H van der Hout, Kristin M Abbott, Alexander Hoischen, Marc Pieterse, Taco W Kuijpers, Joris M van Montfrans, Mariëlle E van Gijn
European Journal of Human Genetics, 2020, vol. 29, p.20-28