Publications by authors named "J C Veltman"
Background: Significant progress has been made in elucidating the genetic underpinnings of Autism Spectrum Disorder (ASD). However, there are still significant gaps in our understanding of the link between genomics, neurobiology and clinical phenotype in scientific discovery. New models are therefore needed to address these gaps.
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- Biparametric MRI (bpMRI) may serve as a valid alternative to multiparametric MRI (mpMRI) for diagnosing clinically significant prostate cancer (csPCa), as assessed in a large international observer study.
- The study involved 400 mpMRI examinations from four different European centers, where readers evaluated both bpMRI and mpMRI for their ability to accurately diagnose csPCa, finding them to be similarly effective.
- Key findings indicated that bpMRI and mpMRI had comparable diagnostic accuracy (AUROC values) and sensitivity, with bpMRI showing a noninferior performance, though both methods had similar specificity when distinguishing csPCa.
Background: In non-small cell lung cancer (NSCLC), chemoradiotherapy (CRT) yields pathological complete response (pCR) rates of approximately 30%. We investigated using ipilimumab plus nivolumab (IPI-NIVO) with neoadjuvant CRT in resectable, and borderline resectable NSCLC.
Methods: This single-arm, phase-II trial enrolled operable T3-4N0-2 patients with NSCLC without oncogenic drivers.
piRNAs are crucial for transposon silencing, germ cell maturation, and fertility in male mice. Here, we report on the genetic landscape of piRNA dysfunction in humans and present 39 infertile men carrying biallelic variants in 14 different piRNA pathway genes, including PIWIL1, GTSF1, GPAT2, MAEL, TDRD1, and DDX4. In some affected men, the testicular phenotypes differ from those of the respective knockout mice and range from complete germ cell loss to the production of a few morphologically abnormal sperm.
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