Sudmant, Peter H.

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

The complete genome sequence of a Neanderthal from the Altai Mountains

Prüfer, K., Racimo, F., Patterson, N., Jay, F., Sankararaman, S., Sawyer, S., Heinze, A., Renaud, G., Sudmant, P. H., de Filippo, C., et al. (2014) · Nature

Pleistocene-Era Hominins and ArchaeologyForensic and Genetic Research

Cited by 2,254

A high-coverage genome sequence from an archaic denisovan individual

Meyer, M., Kircher, M., Gansauge, M.-T., Li, H., Racimo, F., Mallick, S., Schraiber, J. G., Jay, F., Prüfer, K., de Filippo, C., et al. (2012) · Science

Pleistocene-Era Hominins and ArchaeologyForensic and Genetic Research

Cited by 1,967

Ancient human genomes suggest three ancestral populations for present-day Europeans

Lazaridis, I., Patterson, N., Mittnik, A., Renaud, G., Mallick, S., Kirsanow, K., Sudmant, P. H., Schraiber, J. G., Castellano, S., Lipson, M., et al. (2014) · Nature

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 1,357

Diversity of Human Copy Number Variation and Multicopy Genes

Sudmant, P. H., Kitzman, J. O., Antonacci, F., Alkan, C., Malig, M., Tsalenko, A., Sampas, N., Bruhn, L., Shendure, J., 1000 Genomes Project, et al. (2010) · Science

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 667

Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding

Xue, Y., Prado-Martinez, J., Sudmant, P. H., Narasimhan, V., Ayub, Q., Szpak, M., Frandsen, P., Chen, Y., Yngvadottir, B., Cooper, D. N., et al. (2015) · Science

Genetic diversity and population structurePrimate Behavior and Ecology

Cited by 473

Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication

Dennis, M. Y., Nuttle, X., Sudmant, P. H., Antonacci, F., Graves, T. A., Nefedov, M., Rosenfeld, J. A., Sajjadian, S., Malig, M., Kotkiewicz, H., et al. (2012) · Cell

Genomic variations and chromosomal abnormalitiesChromosomal and Genetic Variations

Cited by 407

Global diversity, population stratification, and selection of human copy-number variation

Sudmant, P. H., Mallick, S., Nelson, B. J., Hormozdiari, F., Krumm, N., Huddleston, J., Coe, B. P., Baker, C., Nordenfelt, S., Bamshad, M., et al. (2015) · Science

Genomic variations and chromosomal abnormalitiesForensic and Genetic Research

Cited by 345

Building pangenome graphs

Garrison, E., Guarracino, A., Heumos, S., Villani, F., Bao, Z., Tattini, L., Hagmann, J., Vorbrugg, S., Marco-Sola, S., Kubica, C., et al. (2024) · Nature Methods

Genomics and Phylogenetic StudiesGenome Rearrangement Algorithms

Cited by 277

Blood-brain barrier dysfunction in aging induces hyperactivation of TGFβ signaling and chronic yet reversible neural dysfunction

Senatorov, V. V., Friedman, A. R., Milikovsky, D. Z., Ofer, J., Saar-Ashkenazy, R., Charbash, A., Jahan, N., Chin, G., Mihaly, E., Lin, J. M., et al. (2019) · Science Translational Medicine

Barrier Structure and Function StudiesNeuroinflammation and Neurodegeneration Mechanisms

Cited by 257

Low copy number of the salivary amylase gene predisposes to obesity

Falchi, M., El-Sayed Moustafa, J. S., Takousis, P., Pesce, F., Bonnefond, A., Andersson-Assarsson, J. C., Sudmant, P. H., Dorajoo, R., Al-Shafai, M. N., Bottolo, L., et al. (2014) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 254

Reduced proteasome activity in the aging brain results in ribosome stoichiometry loss and aggregation

Kelmer Sacramento, E., Kirkpatrick, J. M., Mazzetto, M., Baumgart, M., Bartolome, A., Di Sanzo, S., Caterino, C., Sanguanini, M., Papaevgeniou, N., Lefaki, M., et al. (2020) · Molecular Systems Biology

Genetics, Aging, and Longevity in Model OrganismsUbiquitin and proteasome pathways

Cited by 236

Reduced proteasome activity in the aging brain results in ribosome stoichiometry loss and aggregation

Sacramento, E. K., Kirkpatrick, J. M., Mazzetto, M., Baumgart, M., Bartolome, A., Di Sanzo, S., Caterino, C., Sanguanini, M., Papaevgeniou, N., Lefaki, M., et al. (2019) · Molecular Systems Biology

Genetics, Aging, and Longevity in Model OrganismsUbiquitin and proteasome pathways

Cited by 236

Estimating the human mutation rate using autozygosity in a founder population.

Campbell, C. D., Chong, J. X., Malig, M., Ko, A., Dumont, B. L., Han, L., Vives, L., O'Roak, B. J., Sudmant, P. H., Shendure, J., et al. (2012) · Nature Genetics

Genomics and Rare DiseasesEvolution and Genetic Dynamics

Cited by 215

Profiling senescent cells in human brains reveals neurons with CDKN2D/p19 and tau neuropathology

Dehkordi, S. K., Walker, J., Sah, E., Bennett, E., Atrian, F., Frost, B., Woost, B., Bennett, R. E., Orr, T. C., Zhou, Y., et al. (2021) · Nature Aging

Telomeres, Telomerase, and SenescenceAlzheimer's disease research and treatments

Cited by 169

The landscape of human tissue and cell type specific expression and co-regulation of senescence genes

Xu, P., Wang, M., Song, W.-M., Wang, Q., Yuan, G.-C., Sudmant, P. H., Zare, H., Tu, Z., Orr, M. E., & Zhang, B. (2022) · Molecular Neurodegeneration

Telomeres, Telomerase, and SenescenceGenetics, Aging, and Longevity in Model Organisms

Cited by 114

The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2

Ventura, M., Catacchio, C. R., Sajjadian, S., Vives, L., Sudmant, P. H., Marques-Bonet, T., Graves, T. A., Wilson, R. K., & Eichler, E. E. (2012) · Genome Research

Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities

Cited by 42