Author Correction
Alessio Marcozzi, Myrthe Jager, Martin Elferink, Roy Straver, Joost H van Ginkel, Boris Peltenburg, Li-Ting Chen, Ivo Renkens, Joyce van Kuik, Chris Terhaard, Remco de Bree, Lot A Devriese, Stefan M Willems, Wigard P Kloosterman, Jeroen de Ridder
npj Genomic Medicine, 2023, vol. 8
Biallelic TMEM72 variants in patients with nephronophthisis-like phenotype
Rozemarijn Snoek, Laura R. Claus, Edith D. J. Peters, Sanne M. C. Savelberg, Karen Duran, Suzanne W. van der Veen, Walter J. Brummelhuis, Maarten Rookmaaker, Bert van der Zwaag, Tri Q. Nguyen, Roel Broekhuizen, Laurent Mesnard, Alexandre Karras, Omid Sadeghi-Alavijeh, Daniel P. Gale, Martin Elferink, Machteld M. Oud, Siebren Faber, Ronald Roepman, Friedhelm Hildebrandt, Verena Klambt, Nine V. A. M. Knoers, Federico Tessadori, Gijs W. van Haaften, Albertien M. van Eerde
European Journal of Human Genetics, 2022, vol. 30, p.78-78
Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome
Andres Ramirez-Martinez, Yichi Zhang, Marie-Jose van den Boogaard, John R McAnally, Cristina Rodriguez-Caycedo, Andreas C Chai, Francesco Chemello, Maarten Pg Massink, Inge Cuppen, Martin G Elferink, Robert Jj van Es, Nard G Janssen, Linda Pam Walraven-van Oijen, Ning Liu, Rhonda Bassel-Duby, Richard H van Jaarsveld, Eric N Olson
Journal of Clinical Investigation, 2022, vol. 132, p.1-11
Accurate detection of circulating tumor DNA using nanopore consensus sequencing
Alessio Marcozzi, Myrthe Jager, Martin Elferink, Roy Straver, Joost H van Ginkel, Boris Peltenburg, Li-Ting Chen, Ivo Renkens, Joyce van Kuik, Chris Terhaard, Remco de Bree, Lot A Devriese, Stefan M Willems, Wigard P Kloosterman, Jeroen de Ridder
npj Genomic Medicine, 2021, vol. 6, p.1-11
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
