Clinical long-read genome sequencing for rare disease diagnostics
Tessa J.J. de Bitter(Radboud University Nijmegen), Lisenka E.L.M. Vissers(Radboud University Nijmegen), Dorien Lugtenberg(Radboud University Nijmegen), Su Ming Sun(Erasmus MC), Amber den Ouden(Radboud University Nijmegen), Arjen R. Mensenkamp(Radboud University Nijmegen), Marjan M. Weiss(Radboud University Nijmegen), Ermanno Bosgoed(Radboud University Nijmegen), Marinus J. Blok(Maastricht University), Ronny Derks(Radboud University Nijmegen), Aimée Paulussen(Maastricht University Medical Centre), Michelle de Groot(Radboud University Nijmegen), Debby M.E.I. Hellebrekers(Maastricht University Medical Centre), Richard J. Rodenburg(Radboud University Nijmegen), Lydia Sagath(Radboud University Nijmegen), Helger G. Yntema(Radboud University Nijmegen), Alexander P.A. Stegmann(Radboud University Nijmegen), Lot Snijders Blok(Radboud University Nijmegen), Simone van den Heuvel(Radboud University Nijmegen), Peer Arts(Maastricht University Medical Centre), Tom Hofste(Radboud University Nijmegen), Nick Zomer(Radboud University Nijmegen), Jordi Corominas Galbany(Radboud University Nijmegen), Marloes Steehouwer(Radboud University Nijmegen), A Hoischen(Radboud University Nijmegen), Wendy AG van Zelst-Stams(Radboud University Nijmegen), Wolfram Höps(Radboud University Nijmegen), Jos G.A. Smits(Radboud University Nijmegen), Arthur van den Wijngaard(Maastricht University Medical Centre), Timon van Leeuwen(Radboud University Nijmegen), Christian Gilissen(Radboud University Nijmegen), Marjolijn J.L. Ligtenberg(Radboud University Nijmegen), Raoul G.J. Timmermans(Radboud University Nijmegen), Erik-Jan Kamsteeg(Radboud University Nijmegen), Nicole de Leeuw(Radboud University Nijmegen), Quentin Sabbagh(Radboud University Nijmegen), Bart van der Sanden(Radboud University Nijmegen)
Cited by 1
Related Papers
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
|New England Journal of Medicine|2008|811
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
|Science|2021|802
Evidence for 28 genetic disorders discovered by combining healthcare and research data
|Nature|2020|672
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
|Nature Genetics|2017|565