Cooper, Gregory M.

A general framework for estimating the relative pathogenicity of human genetic variants

Kircher, M., Witten, D. M., Jain, P., O'Roak, B. J., Cooper, G. M., & Shendure, J. (2014) · Nature Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 6,183

CADD: predicting the deleteriousness of variants throughout the human genome

Rentzsch, P., Witten, D., Cooper, G. M., Shendure, J., & Kircher, M. (2019) · Nucleic Acids Research

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 3,534

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

Davydov, E. V., Goode, D. L., Sirota, M., Cooper, G. M., Sidow, A., & Batzoglou, S. (2010) · PLoS Computational Biology

Genomics and Phylogenetic StudiesGenomics and Chromatin Dynamics

Cited by 1,757

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

Kathiresan, S., Melander, O., Guiducci, C., Surti, A., Burtt, N. P., Rieder, M. J., Cooper, G. M., Roos, C., Voight, B. F., Havulinna, A. S., et al. (2008) · Nature Genetics

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 1,386

Distribution and intensity of constraint in mammalian genomic sequence

Cooper, G. M., Stone, E. A., Asimenos, G., Green, E. D., Batzoglou, S., & Sidow, A. (2005) · Genome Research

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 1,359

A copy number variation morbidity map of developmental delay

Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., et al. (2011) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 1,351

Guidelines for investigating causality of sequence variants in human disease

MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., et al. (2014) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,224

Mapping and sequencing of structural variation from eight human genomes

Kidd, J. M., Cooper, G. M., Donahue, W. F., Hayden, H. S., Sampas, N., Graves, T., Hansen, N., Teague, B., Alkan, C., Antonacci, F., et al. (2008) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 1,119

LAGAN and Multi-LAGAN: Efficient tools for large-scale multiple alignment of genomic DNA

Brudno, M., Do, C. B., Cooper, G. M., Kim, M. F., Davydov, E., Program, N. C. S., Green, E. D., Sidow, A., & Batzoglou, S. (2003) · Genome Research

Genomics and Phylogenetic StudiesFractal and DNA sequence analysis

Cited by 1,115

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Cirulli, E. T., Lasseigne, B. N., Petrovski, S., Sapp, P. C., Dion, P. A., Leblond, C. S., Couthouis, J., Lu, Y.-F., Wang, Q., Krueger, B. J., et al. (2015) · Science

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 966

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., et al. (2010) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 667

Population analysis of large copy number variants and hotspots of human genetic disease

Itsara, A., Cooper, G. M., Baker, C., Girirajan, S., Li, J., Absher, D., Krauss, R. M., Myers, R. M., Ridker, P. M., Chasman, D. I., et al. (2009) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 591

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

Sharp, A. J., Mefford, H. C., Li, K., Baker, C., Skinner, C., Stevenson, R. E., Schroer, R. J., Novara, F., De Gregori, M., Ciccone, R., et al. (2008) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 582

Massively parallel functional dissection of mammalian enhancers in vivo

Patwardhan, R. P., Hiatt, J. B., Witten, D. M., Kim, M. J., Smith, R. P., May, D., Lee, C., Andrie, J. M., Lee, S.-I., Cooper, G. M., et al. (2012) · Nature Biotechnology

Genomics and Chromatin DynamicsCRISPR and Genetic Engineering

Cited by 536

A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose

Cooper, G. M., Johnson, J. A., Langaee, T. Y., Feng, H., Stanaway, I. B., Schwarz, U. I., Ritchie, M. D., Stein, C. M., Roden, D. M., Smith, J. D., et al. (2008) · Blood

Pharmacogenetics and Drug MetabolismGenetic Associations and Epidemiology

Cited by 481

A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity

Inoue, F., Kircher, M., Martin, B., Cooper, G. M., Witten, D. M., McManus, M. T., Ahituv, N., & Shendure, J. (2017) · Genome Research

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 331

Characterization of Evolutionary Rates and Constraints in Three Mammalian Genomes

Cooper, G. M., Brudno, M., Stone, E. A., Dubchak, I., Batzoglou, S., & Sidow, A. (2004) · Genome Research

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 134

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

Mefford, H. C., Cooper, G. M., Zerr, T., Smith, J. D., Baker, C., Shafer, N., Thorland, E. C., Skinner, C., Schwartz, C. E., Nickerson, D. A., et al. (2009) · Genome Research

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 132

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

Study, D. D. D. (., Zweier, M., Begemann, A., McWalter, K., Cho, M. T., Abela, L., Banka, S., Behring, B., Berger, A., Brown, C. W., et al. (2019) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 71

Mapping genome-wide transcription factor binding sites in frozen tissues

Savic, D., Gertz, J., Jain, P., Cooper, G. M., & Myers, R. M. (2013) · Epigenetics & Chromatin

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 31

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder

Hiatt, S. M., Thompson, M. L., Prokop, J. W., Lawlor, J. M. J., Gray, D. E., Bebin, E. M., Rinne, T., Kempers, M., Pfundt, R., van Bon, B. W., et al. (2019) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 29

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Hiatt, S. M., Trajkova, S., Sebastiano, M. R., Partridge, E. C., Abidi, F. E., Anderson, A., Ansar, M., Antonarakis, S. E., Azadi, A., Bachmann-Gagescu, R., et al. (2023) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 21