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Year | Number of Results |
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2021 | 1 |
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Page 1
Liquid biopsy: state of reproductive medicine and beyond.
Hum Reprod. 2021 Oct 18;36(11):2824-2839. doi: 10.1093/humrep/deab206.
Hum Reprod. 2021.
PMID: 34562078
Free PMC article.
Review.
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.
van der Sanden BPGH, Schobers G, Corominas Galbany J, Koolen DA, Sinnema M, van Reeuwijk J, Stumpel CTRM, Kleefstra T, de Vries BBA, Ruiterkamp-Versteeg M, Leijsten N, Kwint M, Derks R, Swinkels H, den Ouden A, Pfundt R, Rinne T, de Leeuw N, Stegmann AP, Stevens SJ, van den Wijngaard A, Brunner HG, Yntema HG, Gilissen C, Nelen MR, Vissers LELM.
van der Sanden BPGH, et al. Among authors: schobers g.
Eur J Hum Genet. 2023 Jan;31(1):81-88. doi: 10.1038/s41431-022-01185-9. Epub 2022 Sep 16.
Eur J Hum Genet. 2023.
PMID: 36114283
Free PMC article.
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Genome sequencing as a generic diagnostic strategy for rare disease.
Schobers G, Derks R, den Ouden A, Swinkels H, van Reeuwijk J, Bosgoed E, Lugtenberg D, Sun SM, Corominas Galbany J, Weiss M, Blok MJ, Olde Keizer RACM, Hofste T, Hellebrekers D, de Leeuw N, Stegmann A, Kamsteeg EJ, Paulussen ADC, Ligtenberg MJL, Bradley XZ, Peden J, Gutierrez A, Pullen A, Payne T, Gilissen C, van den Wijngaard A, Brunner HG, Nelen M, Yntema HG, Vissers LELM.
Schobers G, et al.
Genome Med. 2024 Feb 14;16(1):32. doi: 10.1186/s13073-024-01301-y.
Genome Med. 2024.
PMID: 38355605
Free PMC article.
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Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Schobers G, Schieving JH, Yntema HG, Pennings M, Pfundt R, Derks R, Hofste T, de Wijs I, Wieskamp N, van den Heuvel S, Galbany JC, Gilissen C, Nelen M, Brunner HG, Kleefstra T, Kamsteeg EJ, Willemsen MAAP, Vissers LELM.
Schobers G, et al.
Genome Med. 2022 Jun 17;14(1):66. doi: 10.1186/s13073-022-01069-z.
Genome Med. 2022.
PMID: 35710456
Free PMC article.
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Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature.
Kleefstra T, de Leeuw N, Wolf R, Nillesen WM, Schobers G, Mieloo H, Willemsen M, Perrotta CS, Poddighe PJ, Feenstra I, Draaisma J, van Ravenswaaij-Arts CM.
Kleefstra T, et al. Among authors: schobers g.
Am J Med Genet A. 2010 Sep;152A(9):2221-9. doi: 10.1002/ajmg.a.33529.
Am J Med Genet A. 2010.
PMID: 20683990
Review.
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