Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Judith M. Vlaar"'
Autor:
Judith M. Vlaar, Anouska Borgman, Eric Kalkhoven, Denise Westland, Nicolle Besselink, Charles Shale, Bishoy M. Faltas, Peter Priestley, Ewart Kuijk, Edwin Cuppen
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract Bladder cancer has a high recurrence rate and low survival of advanced stage patients. Few genetic drivers of bladder cancer have thus far been identified. We performed in-depth structural variant analysis on whole-genome sequencing data of
Externí odkaz:
https://doaj.org/article/888f55e99f70439995e314d90af004f1
Autor:
Sjors Middelkamp, Judith M. Vlaar, Jacques Giltay, Jerome Korzelius, Nicolle Besselink, Sander Boymans, Roel Janssen, Lisanne de la Fonteijne, Ellen van Binsbergen, Markus J. van Roosmalen, Ron Hochstenbach, Daniela Giachino, Michael E. Talkowski, Wigard P. Kloosterman, Edwin Cuppen
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
Abstract Background Genomic structural variants (SVs) can affect many genes and regulatory elements. Therefore, the molecular mechanisms driving the phenotypes of patients carrying de novo SVs are frequently unknown. Methods We applied a combination
Externí odkaz:
https://doaj.org/article/341d24bce7eb47ffb1b6902c15a0ce41
Autor:
Jacques C. Giltay, Michael E. Talkowski, Sjors Middelkamp, Ellen van Binsbergen, Wigard P. Kloosterman, Markus J. van Roosmalen, Roel Janssen, Sander Boymans, Lisanne de la Fonteijne, Daniela Giachino, Nicolle Besselink, Jerome Korzelius, Ron Hochstenbach, Judith M. Vlaar, Edwin Cuppen
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
Genome Medicine
Genome Medicine, 11(1). BioMed Central
Genome Medicine
Genome Medicine, 11(1). BioMed Central
Background Genomic structural variants (SVs) can affect many genes and regulatory elements. Therefore, the molecular mechanisms driving the phenotypes of patients carrying de novo SVs are frequently unknown. Methods We applied a combination of system
Autor:
Judith M. Vlaar, Anouska Borgman, Eric Kalkhoven, Denise Westland, Nicolle Besselink, Charles Shale, Bishoy M. Faltas, Peter Priestley, Ewart Kuijk, Edwin Cuppen
Bladder cancer has a high recurrence rate and low survival of advanced stage patients. Few genetic drivers of bladder cancer have thus far been identified. We performed in-depth structural variant analysis on whole-genome sequencing data of 206 metas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba4fd16735dd952ce0cd9161e1b1d76a
https://doi.org/10.1101/2021.11.09.468005
https://doi.org/10.1101/2021.11.09.468005
Autor:
Sjors Middelkamp, Peter G.J. Nikkels, Marijn Créton, Nine V A M Knoers, Judith M. Vlaar, Paulien A Terhal, Jamila Ross, Jeroen W. Bos, Elsbeth S M Voskuil-Kerkhof, Rutger A.J. Nievelstein, Edwin Cuppen, Koen L.I. van Gassen
Publikováno v:
European Journal of Human Genetics, 28(1), 31. Nature Publishing Group
Eur J Hum Genet
EJHG, 28(1):187, 31-39. Nature Publishing Group
Eur J Hum Genet
EJHG, 28(1):187, 31-39. Nature Publishing Group
RNA polymerase III (Pol III) is an essential 17-subunit complex responsible for the transcription of small housekeeping RNAs such as transfer RNAs and 5S ribosomal RNA. Biallelic variants in four genes (POLR3A, POLR3B, and POLR1C and POLR3K) encoding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::458934640a5950a7e0a6cf129de8af29
https://dspace.library.uu.nl/handle/1874/393978
https://dspace.library.uu.nl/handle/1874/393978