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Article
Open AccessModel matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)
In biomedical research, particularly for rare diseases (RDs), there is a critical need for model organisms to unravel the mechanistic basis of diseases, perform biomarker studies and develop potential therapeu...
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Article
Open AccessMultiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target
Amyotrophic lateral sclerosis (ALS) is a debilitating motor neuron disease and lacks effective disease-modifying treatments. This study utilizes a comprehensive multiomic approach to investigate the early and ...
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Article
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy
Despite linkage to chromosome 16q in 1996, the mutation causing spinocerebellar ataxia type 4 (SCA4), a late-onset sensory and cerebellar ataxia, remained unknown. Here, using long-read single-strand whole-gen...
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Article
Open AccessResequencing the complete SNCA locus in Indian patients with Parkinson’s disease
The genetic loci implicated in familial Parkinson’s disease (PD) have limited generalizability to the Indian PD population. We tested mutations and the frequency of known mutations in the SNCA gene in a PD cohort...
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Article
Open AccessGenomes in clinical care
In the era of precision medicine, genome sequencing (GS) has become more affordable and the importance of genomics and multi-omics in clinical care is increasingly being recognized. However, how to scale and e...
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Article
Open AccessShort-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia
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Article
Open AccessExome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants
Genetic variants are considered to have a crucial impact on the occurrence of ischemic stroke. In clinical routine, the diagnostic value of next-generation sequencing (NGS) in the medical clarification of acut...
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Article
Open AccessDe novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
We report truncating de novo variants in specific exons of FBRSL1 in three unrelated children with an overlap** syndromic phenotype with respiratory insufficiency, postnatal growth restriction, microcephaly, gl...
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Article
Open AccessInvestigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women
Inherited pathogenic variants in BRCA1 and BRCA2 are the most common causes of hereditary breast and ovarian cancer (HBOC). The risk of develo** breast cancer by age 80 in women carrying a BRCA1 pathogenic vari...
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Article
Open AccessMulti-omics discovery of exome-derived neoantigens in hepatocellular carcinoma
Although mutated HLA ligands are considered ideal cancer-specific immunotherapy targets, evidence for their presentation is lacking in hepatocellular carcinomas (HCCs). Employing a unique multi-omics approach ...
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Article
Open AccessHomozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?
Homozygous mutation of TBC1 domain-containing kinase (TBCK) is the cause of a very recently defined severe childhood disorder, which is characterized by severe hypotonia, global developmental delay, intellectual ...
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Article
Open AccessBreast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity
Breast cancer is the most prevalent tumor entity in Li-Fraumeni syndrome. Up to 80% of individuals with a Li-Fraumeni-like phenotype do not harbor detectable causative germline TP53 variants. Yet, no systematic p...
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Article
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies
Intellectual disability (ID) has an estimated prevalence of 1.5–2%. In most affected individuals, its genetic basis remains unclear. Whole exome sequencing (WES) studies have identified a multitude of novel ca...
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Article
Open AccessSeqPurge: highly-sensitive adapter trimming for paired-end NGS data
Trimming of adapter sequences from short read data is a common preprocessing step during NGS data analysis. When performing paired-end sequencing, the overlap between forward and reverse read can be used to id...
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Article
HBOC multi-gene panel testing: comparison of two sequencing centers
Multi-gene panels are used to identify genetic causes of hereditary breast and ovarian cancer (HBOC) in large patient cohorts. This study compares the diagnostic workflow in two centers and gives valuable insi...
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Chapter and Conference Paper
SILACAnalyzer - A Tool for Differential Quantitation of Stable Isotope Derived Data
Quantitative proteomics is a growing field where several experimental techniques such as those based around stable isotope labelling are reaching maturity. These advances require the parallel development of in...
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Article
Open AccessOpenMS – An open-source software framework for mass spectrometry
Mass spectrometry is an essential analytical technique for high-throughput analysis in proteomics and metabolomics. The development of new separation techniques, precise mass analyzers and experimental protoco...
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Chapter and Conference Paper
Algorithms for the Automated Absolute Quantification of Diagnostic Markers in Complex Proteomics Samples
HPLC-ESI-MS is rapidly becoming an established standard method for shotgun proteomics. Currently, its major drawbacks are two-fold: quantification is mostly limited to relative quantification and the large amo...
