Klaudia Walter

The paper imputes fluid intelligence scores in a large cohort, reducing ascertainment bias and increasing power to detect genetic associations with common and rare variants.

The paper performs whole exome sequencing on 44,028 British South Asians to identify gene-phenotype associations and knockout genes, finding novel links and implications for drug development.

The paper combines natural and engineered genetic variation to identify 22 non-coding variants affecting haematological traits and shows how a CUX1 variant impacts megakaryopoiesis.

This pilot study identifies British South Asians at high risk of cholestatic liver disease through genetic and phenotypic recall, finding 66.7% of participants had undetected liver disease.

This study examines the proteomic and clinical impact of human knockouts in British South Asians, identifying significant protein under- and over-expression and developing a machine learning model to predict variant benignity.

The paper identifies ancestry-specific T2D risk variants in South Asian populations through exome-wide association study and functional validation.

The paper identifies 185 genome-wide significant loci associated with common diseases in a cohort of British Pakistanis and Bangladeshis with high autozygosity, focusing on recessive genetic effects.

This study estimates that ~6% of insulin-treated diabetic individuals with ambiguous features in British Pakistanis and Bangladeshis have T1D, highlighting the need for autoantibody and C-peptide testing.

The paper identifies misexpression of inactive genes in whole blood and links it to nearby rare structural variants using RNA and genome sequencing data.

The paper quantifies the contribution of recessive coding variants to developmental disorders in diverse populations, identifying novel genes and highlighting challenges in interpreting missense variants.

This study identifies 5,106 new genetic variants associated with blood cell traits using large-scale GWAS, highlighting the polygenic and monogenic basis of hematopoiesis.

The paper identifies novel gene-trait associations and pathways involving rare variants in metabolic biomarkers linked to cardiovascular disease risk.

This study performs GWAS on blood cell flow-cytometry phenotypes, identifies variant-trait associations, and links them to cellular structures and disease mechanisms.

This study uses regulatory QTLs from immune cells to fine-map causal variants for twelve immune-mediated diseases, finding smaller credible sets and higher posterior probabilities compared to traditional methods.

This paper calls copy number variants from whole-genome sequencing data of 6,898 individuals using a regression tree-based method, identifying 1,320 CNVs and their potential clinical impact.

The paper identifies how variation in PU.1 binding and chromatin looping at neutrophil enhancers influences autoimmune disease susceptibility and cell count differences.

The paper identifies 9 novel genetic loci, including low-frequency variants in TP53, associated with head circumference and intracranial volume in up to 46,000 individuals.

The paper performs deep whole genome sequencing on 1,457 individuals to investigate rare variant contributions to cardiometabolic traits, identifying new regulatory variants and gene-trait associations.

The paper introduces a method to assess enrichment of GWAS loci in regulatory regions, identifying novel biological insights across 27 traits.