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Peer-reviewedLicence not statedNew England Journal of Medicine

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics

  • Tessa J.J. de Bitter1
  • Bart P. G. H. van der Sanden1
  • Lydia Sagath1
  • Wolfram Höps1
  • Peer Arts2
  • Michelle de Groot1
  • Marjan M. Weiss1
  • Ronny C. Derks1
  • Amber den Ouden1
  • Simone van den Heuvel1
  • Raoul Timmermans1
  • Timon van Leeuwen1
25 more authors
  • Jordi Corominas1
  • Jos G.A. Smits1
  • Lot Snijders Blok1
  • Tom G. J. Hofste1
  • Marloes Steehouwer1
  • Nick Zomer1
  • Quentin Sabbagh1
  • Erik‐Jan Kamsteeg1
  • Dorien Lugtenberg1
  • Ermanno Bosgoed1
  • Richard J. Rodenburg1
  • Su Ming Sun2
  • Arjen R. Mensenkamp1
  • Marjolijn J. L. Ligtenberg1
  • Nicole de Leeuw1
  • Debby M.E.I. Hellebrekers2
  • Alexander P.A. Stegmann2
  • Aimee D. C. Paulussen2
  • Marinus J. Blok2
  • Wendy A.G. van Zelst–Stams1
  • Arthur van den Wijngaard2
  • Helger G. Yntema1
  • Christian Gilissen1
  • Alexander Hoischen1
  • Lisenka E.L.M. Vissers1
  1. 1Radboud University Medical Center, Nijmegen, the Netherlands
  2. 2Maastricht University Medical Center+, Maastricht, the Netherlands
Open at sourcePDFDOICite

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Cite

BibTeXRIS
BibTeX
@article{bitter2026clinical,
  title = {{Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics}},
  author = {Tessa J.J. de Bitter and Bart P. G. H. van der Sanden and Lydia Sagath and Wolfram Höps and Peer Arts and Michelle de Groot and Marjan M. Weiss and Ronny C. Derks and Amber den Ouden and Simone van den Heuvel and Raoul Timmermans and Timon van Leeuwen and Jordi Corominas and Jos G.A. Smits and Lot Snijders Blok and Tom G. J. Hofste and Marloes Steehouwer and Nick Zomer and Quentin Sabbagh and Erik‐Jan Kamsteeg and Dorien Lugtenberg and Ermanno Bosgoed and Richard J. Rodenburg and Su Ming Sun and Arjen R. Mensenkamp and Marjolijn J. L. Ligtenberg and Nicole de Leeuw and Debby M.E.I. Hellebrekers and Alexander P.A. Stegmann and Aimee D. C. Paulussen and Marinus J. Blok and Wendy A.G. van Zelst–Stams and Arthur van den Wijngaard and Helger G. Yntema and Christian Gilissen and Alexander Hoischen and Lisenka E.L.M. Vissers},
  journal = {New England Journal of Medicine},
  year = {2026},
  month = jun,
  doi = {10.1056/nejmc2602512},
  url = {https://doi.org/10.64898/2026.01.13.26343759},
}
RIS
TY  - JOUR
TI  - Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics
AU  - Tessa J.J. de Bitter
AU  - Bart P. G. H. van der Sanden
AU  - Lydia Sagath
AU  - Wolfram Höps
AU  - Peer Arts
AU  - Michelle de Groot
AU  - Marjan M. Weiss
AU  - Ronny C. Derks
AU  - Amber den Ouden
AU  - Simone van den Heuvel
AU  - Raoul Timmermans
AU  - Timon van Leeuwen
AU  - Jordi Corominas
AU  - Jos G.A. Smits
AU  - Lot Snijders Blok
AU  - Tom G. J. Hofste
AU  - Marloes Steehouwer
AU  - Nick Zomer
AU  - Quentin Sabbagh
AU  - Erik‐Jan Kamsteeg
AU  - Dorien Lugtenberg
AU  - Ermanno Bosgoed
AU  - Richard J. Rodenburg
AU  - Su Ming Sun
AU  - Arjen R. Mensenkamp
AU  - Marjolijn J. L. Ligtenberg
AU  - Nicole de Leeuw
AU  - Debby M.E.I. Hellebrekers
AU  - Alexander P.A. Stegmann
AU  - Aimee D. C. Paulussen
AU  - Marinus J. Blok
AU  - Wendy A.G. van Zelst–Stams
AU  - Arthur van den Wijngaard
AU  - Helger G. Yntema
AU  - Christian Gilissen
AU  - Alexander Hoischen
AU  - Lisenka E.L.M. Vissers
PY  - 2026
DA  - 2026/06/13
JO  - New England Journal of Medicine
DO  - 10.1056/nejmc2602512
UR  - https://doi.org/10.64898/2026.01.13.26343759
SN  - 0028-4793
SN  - 0096-6762
SN  - 1533-4406
SN  - 2331-4710
ER  -