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The human phenotype ontology.
Robinson PN, Mundlos S. Robinson PN, et al. Clin Genet. 2010 Jun;77(6):525-34. doi: 10.1111/j.1399-0004.2010.01436.x. Epub 2010 Feb 11. Clin Genet. 2010. PMID: 20412080 Review.
TCR repertoire analysis by next generation sequencing allows complex differential diagnosis of T cell-related pathology.
Dziubianau M, Hecht J, Kuchenbecker L, Sattler A, Stervbo U, Rödelsperger C, Nickel P, Neumann AU, Robinson PN, Mundlos S, Volk HD, Thiel A, Reinke P, Babel N. Dziubianau M, et al. Among authors: robinson pn. Am J Transplant. 2013 Nov;13(11):2842-54. doi: 10.1111/ajt.12431. Epub 2013 Sep 10. Am J Transplant. 2013. PMID: 24020931 Free article.
A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.
Klopocki E, Fiebig B, Robinson P, Tönnies H, Erdogan F, Ropers HH, Mundlos S, Ullmann R. Klopocki E, et al. Am J Med Genet A. 2006 Apr 15;140(8):873-7. doi: 10.1002/ajmg.a.31163. Am J Med Genet A. 2006. PMID: 16528753
Fetal imaging, phenotyping, and genomic testing in modern prenatal diagnosis.
Shear MA, Robinson PN, Sparks TN. Shear MA, et al. Among authors: robinson pn. Best Pract Res Clin Obstet Gynaecol. 2024 Dec 15;98:102575. doi: 10.1016/j.bpobgyn.2024.102575. Online ahead of print. Best Pract Res Clin Obstet Gynaecol. 2024. PMID: 39740319 Free article. Review.
Using paired-end read orientations to assess technical biases in capture Hi-C.
Hansen P, Blau H, Hecht J, Karlebach G, Krannich A, Steinhaus R, Truss M, Robinson PN. Hansen P, et al. Among authors: robinson pn. NAR Genom Bioinform. 2024 Dec 4;6(4):lqae156. doi: 10.1093/nargab/lqae156. eCollection 2024 Dec. NAR Genom Bioinform. 2024. PMID: 39660253 Free PMC article.
413 results