Awadalla, Philip

A global reference for human genetic variation

The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 18,247

The repertoire of mutational signatures in human cancer

Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Tian Ng, A. W., Wu, Y., Boot, A., Covington, K. R., Gordenin, D. A., Bergstrom, E. N., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 3,496

Pan-cancer analysis of whole genomes

The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S.-M., Aikata, H., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 3,064

Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis

Võsa, U., Claringbould, A., Westra, H.-J., Bonder, M. J., Deelen, P., Zeng, B., Kirsten, H., Saha, A., Kreuzhuber, R., Kasela, S., et al. (2018) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 2,607

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

Võsa, U., Claringbould, A., Westra, H.-J., Bonder, M. J., Deelen, P., Zeng, B., Kirsten, H., Saha, A., Kreuzhuber, R., Yazar, S., et al. (2021) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 2,607

The evolutionary history of 2,658 cancers

Gerstung, M., Jolly, C., Leshchiner, I., Dentro, S. C., Gonzalez, S., Rosebrock, D., Mitchell, T. J., Rubanova, Y., Anur, P., Yu, K., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 1,057

Patterns of somatic structural variation in human cancer genomes

Li, Y., Roberts, N. D., Wala, J. A., Shapira, O., Schumacher, S. E., Kumar, K., Khurana, E., Waszak, S., Korbel, J. O., Haber, J. E., et al. (2020) · Nature

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 867

Prediction of acute myeloid leukaemia risk in healthy individuals

Abelson, S., Collord, G., Ng, S. W. K., Weissbrod, O., Mendelson Cohen, N., Niemeyer, E., Barda, N., Zuzarte, P. C., Heisler, L., Sundaravadanam, Y., et al. (2018) · Nature

Acute Myeloid Leukemia ResearchCancer Genomics and Diagnostics

Cited by 850

Lung adenocarcinoma promotion by air pollutants

Hill, W., Lim, E. L., Weeden, C. E., Lee, C., Augustine, M., Chen, K., Kuan, F.-C., Marongiu, F., Evans, E. J., Moore, D. A., et al. (2023) · Nature

Air Quality and Health ImpactsCarcinogens and Genotoxicity Assessment

Cited by 808

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Cortés-Ciriano, I., Lee, J. J.-K., Xi, R., Jain, D., Jung, Y. L., Yang, L., Gordenin, D., Klimczak, L. J., Zhang, C.-Z., Pellman, D. S., et al. (2020) · Nature Genetics

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 712

A Coalescent-Based Method for Detecting and Estimating Recombination From Gene Sequences

McVean, G., Awadalla, P., & Fearnhead, P. (2002) · Genetics

Evolution and Genetic DynamicsGenetic diversity and population structure

Cited by 708

Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

Rodriguez-Martin, B., Alvarez, E. G., Baez-Ortega, A., Zamora, J., Supek, F., Demeulemeester, J., Santamarina, M., Ju, Y. S., Temes, J., Garcia-Souto, D., et al. (2020) · Nature Genetics

Genomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics

Cited by 451

Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood

Qi, T., Wu, Y., Zeng, J., Zhang, F., Xue, A., Jiang, L., Zhu, Z., Kemper, K., Yengo, L., Zheng, Z., et al. (2018) · Nature Communications

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 427

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

Gauthier, J., Champagne, N., Lafrenière, R. G., Xiong, L., Spiegelman, D., Brustein, E., Lapointe, M., Peng, H., Côté, M., Noreau, A., et al. (2010) · Proceedings of the National Academy of Sciences

Genetics and Neurodevelopmental DisordersSchizophrenia research and treatment

Cited by 369

Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits.

Porcu, E., Rüeger, S., Lepik, K., eQTLGen Consortium, Agbessi, M., Ahsan, H., Alves, I., Andiappan, A., Arindrarto, W., Awadalla, P., et al. (2019) · Nature Communications

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 322

Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

Akdemir, K. C., Le, V. T., Chandran, S., Li, Y., Verhaak, R. G., Beroukhim, R., Campbell, P. J., Chin, L., Dixon, J. R., Futreal, P. A., et al. (2020) · Nature Genetics

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 283

Global genetic diversity and evolution of var genes associated with placental and severe childhood malaria

Trimnell, A. R., Kraemer, S. M., Mukherjee, S., Phippard, D. J., Janes, J. H., Flamoe, E., Su, X.-Z., Awadalla, P., & Smith, J. D. (2006) · Molecular and Biochemical Parasitology

Malaria Research and ControlBlood groups and transfusion

Cited by 165

Structural polymorphism and diversifying selection on the pregnancy malaria vaccine candidate VAR2CSA

Bockhorst, J., Lu, F., Janes, J. H., Keebler, J., Gamain, B., Awadalla, P., Su, X.-Z., Samudrala, R., Jojic, N., & Smith, J. D. (2007) · Molecular and Biochemical Parasitology

Malaria Research and ControlBlood groups and transfusion

Cited by 117

A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing

Myers, R. A., Casals, F., Gauthier, J., Hamdan, F. F., Keebler, J., Boyko, A. R., Bustamante, C. D., Piton, A. M., Spiegelman, D., Henrion, E., et al. (2011) · PLoS Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 97

Building knowledge, optimising physical and mental health and setting up healthier life trajectories in South African women (Bukhali): a preconception randomised control trial part of the Healthy Life Trajectories Initiative (HeLTI)

Norris, S. A., Draper, C. E., Prioreschi, A., Smuts, C., Ware, L. J., Dennis, C., Awadalla, P., Bassani, D., Bhutta, Z., Briollais, L., et al. (2022) · BMJ Open

Birth, Development, and HealthMaternal and Neonatal Healthcare

Cited by 56

Human haematopoietic stem cells remember inflammatory stress

Zeng, A. G. X., Nagree, M. S., Jakobsen, N. A., Shah, S., Varesi, A., Kang, J. R. W., Murison, A., Cheong, J.-G., Turkalj, S., Zhang, X., et al. (2026) · Nature

Hematopoietic Stem Cell TransplantationAcute Myeloid Leukemia Research

Cited by 10