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American Journal of Medical Genetics. Part A|November 22, 2013
Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalitiesSaskia N van der Crabben, Magdalena Harakalova, Eva H Brilstra, et al.
Genome Research|May 6, 2014
Natural variation of histone modification and its impact on gene expression in the rat genomeCarola Rintisch, Matthias Heinig, Anja Bauerfeind, et al.
Genome Medicine|December 6, 2019
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variantsSjors Middelkamp, Judith M Vlaar, Jacques Giltay, et al.
Cancers|March 25, 2022
Distinct Genomic Profiles Are Associated with Treatment Response and Survival in Ovarian CancerChris J de Witte, Joachim Kutzera, Arne van Hoeck, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
Discovery of variants unmasked by hemizygous deletionsRon Hochstenbach, Martin Poot, Isaac J Nijman, et al.
Nature Communications|July 30, 2021
The genomic landscape of 85 advanced neuroendocrine neoplasms reveals subtype-heterogeneity and potential therapeutic targetsJob van Riet, Harmen J G van de Werken, Edwin Cuppen, et al.
Plos One|August 29, 2012
A functional screen identifies specific microRNAs capable of inhibiting human melanoma cell viabilityJos B Poell, Rick J van Haastert, Thijs de Gunst, et al.
Cell Genomics|September 18, 2023
Comprehensive single-cell genome analysis at nucleotide resolution using the PTA Analysis ToolboxSjors Middelkamp, Freek Manders, Flavia Peci, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 4, 2021
Defects in 8-oxo-guanine repair pathway cause high frequency of C > A substitutions in neuroblastomaMarlinde L van den Boogaard, Rurika Oka, Anne Hakkert, et al.
Cancer Discovery|June 9, 2022
Elevated Mutational Age in Blood of Children Treated for Cancer Contributes to Therapy-Related Myeloid NeoplasmsEline J M Bertrums, Axel K M Rosendahl Huber, Jurrian K de Kanter, et al.
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