Collaborator: University of California, Los Angeles

• Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines

• ECHS1 disease in two unrelated families of Samoan descent: Common variant – rare disorder

• Targeting cellular heterogeneity with CXCR2 blockade for the treatment of therapy-resistant prostate cancer

• Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

• Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing

• Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

• Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes

  Abstract Primary mitochondrial complex I deficiency is the most common defect of the mitochondrial respiratory chain. It is caused by defects in structural components and assembly factors of this large protein complex. Mutations in the assembly factor NDUFAF5 are rare, with only five families reported to date. This study provides clinical, biochemical, molecular and functional data for four unrelated…

• The Escherichia coli NarL receiver domain regulates transcription through promoter specific functions

  Abstract BACKGROUND The Escherichia coli response regulator NarL controls transcription of genes involved in nitrate respiration during anaerobiosis. NarL consists of two domains joined by a linker that wraps around the interdomain interface. Phosphorylation of the NarL N-terminal receiver domain (RD) releases the, otherwise sequestered, C-terminal output domain (OD) that subsequently binds specific DNA promoter…