Publications by authors named "M Rohlfs"
Article Synopsis
- * A 3-year study, TRANSLATE NAMSE, analyzed data from 1,577 patients, revealing that 32% received molecular diagnoses involving 370 distinct causes, primarily uncommon.
- * The research showed that combining next-generation sequencing with advanced phenotyping methods improved diagnostic efficiency and helped identify new genotype-phenotype associations, particularly in neurodevelopmental disorders.
Article Synopsis
- - Hypogammaglobulinemia without B-cells is a type of inborn error of immunity marked by low serum immunoglobulins and a lack of B-cells, with most cases linked to mutations in the BTK gene.
- - In a study of 27 patients from 13 families, researchers discovered several novel mutations in the BTK gene along with other genetic variants in different genes, which contribute to the condition's complexity.
- - The findings expand the understanding of this immunological disorder, especially within the Iranian community, highlighting that affected siblings may exhibit better disease management compared to other family members.
Mass bleaching events and local anthropogenic influences have changed the benthic communities of many coral reefs with pronounced spatial differences that are linked to resilience patterns. The Gulf of Thailand is an under-investigated region with only few existing datasets containing long-term developments of coral reef communities using the same method at fixed sites. We thus analyzed benthic community data from seven reefs surrounding the island of Koh Phangan collected between 2014 and 2022.
View Article and Find Full Text PDFPurpose: RNF213, encoding a giant E3 ubiquitin ligase, has been recognized for its role as a key susceptibility gene for moyamoya disease. Case reports have also implicated specific variants in RNF213 with an early-onset form of moyamoya disease with full penetrance. We aimed to expand the phenotypic spectrum of monogenic RNF213-related disease and to evaluate genotype-phenotype correlations.
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