Martin A. Mensah
A5040369789- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- Congenital limb and hand anomalies
- Lysosomal Storage Disorders Research
- Chromosomal and Genetic Variations
- RNA Research and Splicing
- Cancer Genomics and Diagnostics
- Congenital heart defects research
- Connective tissue disorders research
- RNA regulation and disease
- dental development and anomalies
- Cellular transport and secretion
- Ubiquitin and proteasome pathways
- Systemic Lupus Erythematosus Research
- Nuclear Structure and Function
- Genomics and Chromatin Dynamics
- AI in cancer detection
- Medical and Biological Sciences
- Cancer-related gene regulation
- Cerebrovascular and genetic disorders
- Neurogenetic and Muscular Disorders Research
- RNA and protein synthesis mechanisms
Charité - Universitätsmedizin Berlin
2014-2025
Berlin Institute of Health at Charité - Universitätsmedizin Berlin
2018-2025
Humboldt-Universität zu Berlin
2018-2025
Freie Universität Berlin
2018-2025
Max Planck Institute for Molecular Genetics
2023-2025
KU Leuven
2014
Abstract Thousands of genetic variants in protein-coding genes have been linked to disease. However, the functional impact most is unknown as they occur within intrinsically disordered protein regions that poorly defined functions 1–3 . Intrinsically can mediate phase separation and formation biomolecular condensates, such nucleolus 4,5 This suggests mutations proteins may alter condensate properties function 6–8 Here we show a subset disease-associated separation, cause mispartitioning into...
PurposePhenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible bioinformatics workflows after encoding into clinical terms by expert dysmorphologists.MethodsHere, we introduce an approach driven artificial intelligence that uses portrait photographs exome data. We measured value added computer-assisted image analysis to diagnostic yield on a cohort consisting 679 individuals with 105 different monogenic disorders. For each case in...
Abstract Individuals with ultrarare disorders pose a structural challenge for healthcare systems since expert clinical knowledge is required to establish diagnoses. In TRANSLATE NAMSE, 3-year prospective study, we evaluated novel diagnostic concept based on multidisciplinary expertise in Germany. Here present the systematic investigation of phenotypic and molecular genetic data 1,577 patients who had undergone exome sequencing were partially analyzed next-generation phenotyping approaches....
Copy Number Variants (CNVs) are deletions, duplications or insertions larger than 50 base pairs. They account for a large percentage of the normal genome variation and play major roles in human pathology. While array-based approaches have long been used to detect them clinical practice, whole-genome sequencing (WGS) bears promise allow concomitant exploration CNVs smaller variants. However, accurately calling from WGS remains difficult computational task, which consensus is still lacking. In...
Background While characteristic facial features provide important clues for finding the correct diagnosis in genetic syndromes, valid assessment can be challenging. The next-generation phenotyping algorithm DeepGestalt analyzes patient images and provides syndrome suggestions. GestaltMatcher matches with similar features. new D-Score a score degree of dysmorphism. Objective We aimed to test state-of-the-art tools by benchmarking comparing them DeepGestalt. Methods Using retrospective sample...
Split-hand/foot malformation syndrome (SHFM) is a congenital limb that both clinically and genetically heterogeneous. Variants in WNT10B are known to cause an autosomal recessive form of SHFM. Here, we report patient born unrelated parents who was found be compound heterozygote for missense variants WNT10B: c.994C>T, p.(Arg332Trp) c.638T>G, p.(Phe213Cys). The were identified using long-read PacBio sequencing, which enabled phasing confirmed they located on different alleles. maternally...
Background Collectively, an estimated 5% of the population have a genetic disease. Many them feature characteristics that can be detected by facial phenotyping. Face2Gene CLINIC is online app for phenotyping patients with syndromes. DeepGestalt, neural network driving Face2Gene, automatically prioritizes syndrome suggestions based on ordinary patient photographs, potentially improving diagnostic process. Hitherto, studies DeepGestalt’s quality highlighted its sensitivity in syndromic...
Abstract Most individuals with rare diseases initially consult their primary care physician. For a subset of diseases, efficient diagnostic pathways are available. However, ultra-rare often require both expert clinical knowledge and comprehensive genetic diagnostics, which poses structural challenges for public healthcare systems. To address these within Germany, novel structured concept, based on multidisciplinary expertise at established university hospital centers (CRDs), was evaluated in...
The human sex chromosomes differ in sequence, except for the pseudoautosomal regions (PAR) at terminus of short and long arms, denoted as PAR1 PAR2. boundary between unique X Y sequences was established during divergence great apes. During a copy number variation screen, we noted paternally inherited chromosome duplication 15 independent families. Subsequent genomic analysis demonstrated that an insertional translocation chromosomal sequence into theMa generates extended PAR. insertion is...
Abstract The extensive clinical and genetic heterogeneity of congenital limb malformation calls for comprehensive genome-wide analysis variation. Genome sequencing (GS) has the potential to identify all variants. Here we aim determine diagnostic GS as a one-test-for-all strategy in cohort undiagnosed patients with malformations. We collected 69 cases (64 trios, 1 duo, 5 singletons) malformations no molecular diagnosis after standard testing performed genome sequencing. also developed...
ABSTRACT Background Variants in genes of the nucleotide excision repair (NER) pathway have been associated with heterogeneous clinical presentations ranging from xeroderma pigmentosum to Cockayne syndrome and trichothiodystrophy. NER deficiencies manifest photosensitivity skin cancer, but also developmental delay early‐onset neurological degeneration. Adult‐onset features reported only a few cases, all showing at least mild manifestations. Objective The aim this multicenter study was...
In the era of high throughput sequencing, special software is required for clinical evaluation genetic variants. We developed REEV (Review, Evaluate and Explain Variants), a user-friendly platform clinicians researchers in field rare disease genetics. Supporting data was aggregated from public sources. compared with seven other tools variant evaluation. (semi-)automatically fills individual ACMG criteria facilitating interpretation. can store phenotype related to case use these similarity...
During human organogenesis, lung development is a timely and tightly regulated developmental process under the control of large number signaling molecules. Understanding how genetic variants can disturb normal causing different malformations major goal for dissecting molecular mechanisms during embryogenesis. Here, through exome sequencing (ES), array CGH, genome (GS) Hi-C, we aimed at elucidating basis bilateral isolated agenesis in three fetuses born to non-consanguineous family. We...
Clinical exome and genome sequencing have revolutionized the understanding of human disease genetics. Yet many genes remain functionally uncharacterized, complicating establishment causal links for genetic variants. While several scoring methods been devised to prioritize these candidate genes, fall short capturing expression heterogeneity across cell subpopulations within tissues. Here, we introduce single-cell tissue-specific gene prioritization using machine learning (STIGMA), an approach...
Loss of function variants GLI3 are associated with a variety forms polysyndactyly: Pallister-Hall syndrome (PHS), Greig-Cephalopolysyndactyly (GCPS), and isolated polysyndactyly (IPD). Variants affecting the N-terminal C-terminal thirds protein have been GCPS, those within central third PHS. Cases IPD attributed to protein. In this study, we further investigate these genotype-phenotype correlations. Sequencing was performed in patients clinical findings suggestive GLI3-associated syndrome....