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46 stored papers · Search its papers → · Its authors →

Papers 46

Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing
2020 Leukemia article Medicine Acute Myeloid Leukemia Research Open access

106

citations
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study
2020 Genetics in Medicine article Medicine Tuberous Sclerosis Complex Research Open access

97

citations
Insights from the first genome assembly of Onion ( Allium cepa )
2021 G3 Genes Genomes Genetics article Agricultural and Biological Sciences Chromosomal and Genetic Variations Open access cited by 1 patent

93

citations
A Large‐Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands
2020 Movement Disorders article Medicine Lysosomal Storage Disorders Research Open access cited by 2 patents

75

citations
Development of a novel non-invasive biomarker panel for hepatic fibrosis in MASLD
2024 Nature Communications article Medicine Liver Disease Diagnosis and Treatment Open access

66

citations
Improved diagnosis of viral encephalitis in adult and pediatric hematological patients using viral metagenomics
2020 Journal of Clinical Virology article Medicine Infectious Encephalopathies and Encephalitis Open access

65

citations
A comprehensive mouse kidney atlas enables rare cell population characterization and robust marker discovery
2023 iScience article Biochemistry, Genetics and Molecular Biology Single-cell and spatial transcriptomics Open access

38

citations
A comparison of five Illumina, Ion Torrent, and nanopore sequencing technology-based approaches for whole genome sequencing of SARS-CoV-2
2023 European Journal of Clinical Microbiology & Infectious Diseases article Medicine SARS-CoV-2 detection and testing Open access

33

citations
Comparison of the performance of two targeted metagenomic virus capture probe-based methods using reference control materials and clinical samples
2024 Journal of Clinical Microbiology article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access

29

citations
Molecular Profile of MSH6-Associated Colorectal Carcinomas Shows Distinct Features From Other Lynch Syndrome–Associated Colorectal Carcinomas
2023 Gastroenterology article Medicine Genetic factors in colorectal cancer Open access

27

citations
Penicillium subrubescens adapts its enzyme production to the composition of plant biomass
2020 Bioresource Technology article Engineering Biofuel production and bioconversion Open access

24

citations
Novel Design of an α-Amylase with an N-Terminal CBM20 in Aspergillus niger Improves Binding and Processing of a Broad Range of Starches
2023 Molecules article Biochemistry, Genetics and Molecular Biology Enzyme Production and Characterization Open access

18

citations
Patient-Derived Xenografts and Organoids Recapitulate Castration-Resistant Prostate Cancer with Sustained Androgen Receptor Signaling
2022 Cells article Medicine Prostate Cancer Treatment and Research Open access

14

citations
Genome‐wide characterization of 5‐hydoxymethylcytosine in melanoma reveals major differences with nevus
2020 Genes Chromosomes and Cancer article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access

13

citations
A consensus molecular subtypes classification strategy for clinical colorectal cancer tissues
2024 Life Science Alliance article Medicine Colorectal Cancer Treatments and Studies Open access

13

citations
Fusion transcripts and their genomic breakpoints in polyadenylated and ribosomal RNA–minus RNA sequencing data
2021 GigaScience article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access

13

citations
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years
2023 Nature Communications article Medicine Tuberous Sclerosis Complex Research Open access

11

citations
Gene Regulation Network Analysis on Human Prostate Orthografts Highlights a Potential Role for the JMJD6 Regulon in Clinical Prostate Cancer
2021 Cancers article Medicine Prostate Cancer Treatment and Research Open access

10

citations
Highly variable domain architecture in carbohydrate-active enzymes highlights Streptomyces as promising resource for rice straw bioconversion
2024 Bioresource Technology Reports article Engineering Biofuel production and bioconversion Open access

9

citations
Increased Expression and Altered Cellular Localization of Fibroblast Growth Factor Receptor-Like 1 (FGFRL1) Are Associated with Prostate Cancer Progression
2022 Cancers article Biochemistry, Genetics and Molecular Biology Fibroblast Growth Factor Research Open access

9

citations

Most cited authors