Walter, Klaudia

Accurate whole human genome sequencing using reversible terminator chemistry

Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 3,684

An integrated map of structural variation in 2,504 human genomes

Sudmant, P. H., Rausch, T., Gardner, E. J., Handsaker, R. E., Abyzov, A., Huddleston, J., Zhang, Y., Ye, K., Jun, G., Hsi-Yang Fritz, M., et al. (2015) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 2,354

Origins and functional impact of copy number variation in the human genome

The Wellcome Trust Case Control Consortium, Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T. D., Barnes, C., et al. (2010) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 1,970

An atlas of genetic influences on human blood metabolites

The Multiple Tissue Human Expression Resource (MuTHER) Consortium, Shin, S.-Y., Fauman, E. B., Petersen, A.-K., Krumsiek, J., Santos, R., Huang, J., Arnold, M., Erte, I., Forgetta, V., et al. (2014) · Nature Genetics

Genetic Associations and EpidemiologyMetabolomics and Mass Spectrometry Studies

Cited by 1,515

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., Jostins, L., Habegger, L., Pickrell, J. K., Montgomery, S. B., et al. (2012) · Science

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,272

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

Astle, W. J., Elding, H., Jiang, T., Allen, D., Ruklisa, D., Mann, A. L., Mead, D., Bouman, H., Riveros-Mckay, F., Kostadima, M. A., et al. (2016) · Cell

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,224

Mapping copy number variation by population-scale genome sequencing

1000 Genomes Project, Mills, R. E., Walter, K., Stewart, C., Handsaker, R. E., Chen, K., Alkan, C., Abyzov, A., Yoon, S. C., Ye, K., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 1,140

Highly Conserved Non-Coding Sequences Are Associated with Vertebrate Development

Woolfe, A., Goodson, M., Goode, D. K., Snell, P., McEwen, G. K., Vavouri, T., Smith, S. F., North, P., Callaway, H., Kelly, K., et al. (2004) · PLoS Biology

Genomics and Chromatin DynamicsDevelopmental Biology and Gene Regulation

Cited by 970

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

Chen, L., Ge, B., Casale, F. P., Vasquez, L., Kwan, T., Garrido-Martín, D., Watt, S., Yan, Y., Kundu, K., Ecker, S., et al. (2016) · Cell

Genetic Associations and EpidemiologyEpigenetics and DNA Methylation

Cited by 679

The Polygenic and Monogenic Basis of Blood Traits and Diseases

Vuckovic, D., Bao, E. L., Akbari, P., Lareau, C. A., Mousas, A., Jiang, T., Chen, M.-H., Raffield, L. M., Tardaguila, M., Huffman, J. E., et al. (2020) · Cell

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 671

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Boldt, K., van Reeuwijk, J., Lu, Q., Koutroumpas, K., Nguyen, T.-M. T., Texier, Y., van Beersum, S. E. C., Horn, N., Willer, J. R., Mans, D. A., et al. (2016) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 240

Whole-genome sequence-based analysis of thyroid function

Taylor, P. N., Porcu, E., Chew, S., Campbell, P. J., Traglia, M., Brown, S. J., Mullin, B. H., Shihab, H. A., Min, J., Walter, K., et al. (2015) · Nature Communications

Genetic Associations and EpidemiologyThyroid Disorders and Treatments

Cited by 104

Estimating genome-wide significance for whole-genome sequencing studies

Xu, C., Tachmazidou, I., Walter, K., Ciampi, A., Zeggini, E., Greenwood, C. M. T., & the UK10K Consortium (2014) · Genetic Epidemiology

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 93

Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases

Cai, N., Gomez-Duran, A., Yonova-Doing, E., Kundu, K., Burgess, A. I., Golder, Z. J., Calabrese, C., Bonder, M. J., Camacho, M., Lawson, R. A., et al. (2021) · Nature Medicine

Mitochondrial Function and PathologyGenetic Associations and Epidemiology

Cited by 73

Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease

Watt, S., Vasquez, L., Walter, K., Mann, A. L., Kundu, K., Chen, L., Sims, Y., Ecker, S., Burden, F., Farrow, S., et al. (2021) · Nature Communications

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

Cited by 63

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

Polfus, L. M., Khajuria, R. K., Schick, U. M., Pankratz, N., Pazoki, R., Brody, J. A., Chen, M.-H., Auer, P. L., Floyd, J. S., Huang, J., et al. (2016) · The American Journal of Human Genetics

Platelet Disorders and TreatmentsGenetic Associations and Epidemiology

Cited by 54

Population‐wide copy number variation calling using variant call format files from 6,898 individuals

Png, G., Suveges, D., Park, Y., Walter, K., Kundu, K., Ntalla, I., Tsafantakis, E., Karaleftheri, M., Dedoussis, G., Zeggini, E., et al. (2020) · Genetic Epidemiology

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 2