Lupski, James R.

The complete genome of an individual by massively parallel DNA sequencing

Wheeler, D. A., Srinivasan, M., Egholm, M., Shen, Y., Chen, L., McGuire, A., He, W., Chen, Y.-J., Makhijani, V., Roth, G. T., et al. (2008) · Nature

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 1,838

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy

Allikmets, R., Singh, N., Sun, H., Shroyer, N. F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Stauffer, D., Peiffer, A., et al. (1997) · Nature Genetics

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 1,435

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yang, Y., Muzny, D. M., Xia, F., Niu, Z., Person, R., Ding, Y., Ward, P., Braxton, A., Wang, M., Buhay, C., et al. (2014) · JAMA

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 1,360

Mechanisms of change in gene copy number

Hastings, P. J., Lupski, J. R., Rosenberg, S. M., & Ira, G. (2009) · Nature Reviews Genetics

Genomic variations and chromosomal abnormalitiesDNA Repair Mechanisms

Cited by 1,316

Copy number variation in human health, disease, and evolution

Zhang, F., Gu, W., Hurles, M. E., & Lupski, J. R. (2009) · Annual Review of Genomics and Human Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 1,207

Structural Variation in the Human Genome and its Role in Disease

Stankiewicz, P., & Lupski, J. R. (2010) · Annual Review of Medicine

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 1,201

A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders

Lee, J. A., Carvalho, C. M. B., & Lupski, J. R. (2007) · Cell

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 914

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

Lupski, J. R. (1998) · Trends in Genetics

Genome Rearrangement AlgorithmsGenomic variations and chromosomal abnormalities

Cited by 908

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

Hastings, P. J., Ira, G., & Lupski, J. R. (2009) · PLoS Genetics

Genomic variations and chromosomal abnormalitiesDNA Repair Mechanisms

Cited by 818

Mechanisms underlying structural variant formation in genomic disorders

Carvalho, C. M. B., & Lupski, J. R. (2016) · Nature Reviews Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 774

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

Lupski, J. R., Reid, J. G., Gonzaga-Jauregui, C., Rio Deiros, D., Chen, D. C. Y., Nazareth, L., Bainbridge, M., Dinh, H., Jing, C., Wheeler, D. A., et al. (2010) · New England Journal of Medicine

Hereditary Neurological DisordersGenomics and Rare Diseases

Cited by 759

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., et al. (2015) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 643

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., et al. (2008) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 625

TLR7 gain-of-function genetic variation causes human lupus

Brown, G. J., Cañete, P. F., Wang, H., Medhavy, A., Bones, J., Roco, J. A., He, Y., Qin, Y., Cappello, J., Ellyard, J. I., et al. (2022) · Nature

Systemic Lupus Erythematosus ResearchImmune Response and Inflammation

Cited by 596

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Shinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., et al. (2010) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 580

Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Takashima, H., Boerkoel, C. F., John, J., Saifi, G. M., Salih, M. A. M., Armstrong, D., Mao, Y., Quiocho, F. A., Roa, B. B., Nakagawa, M., et al. (2002) · Nature Genetics

Genetic Neurodegenerative DiseasesDNA Repair Mechanisms

Cited by 522

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

Gomez-Ospina, N., Potter, C. J., Xiao, R., Manickam, K., Kim, M.-S., Kim, K. H., Shneider, B. L., Picarsic, J. L., Jacobson, T. A., Zhang, J., et al. (2016) · Nature Communications

Drug Transport and Resistance MechanismsPediatric Hepatobiliary Diseases and Treatments

Cited by 300

Somatic mosaicism: implications for disease and transmission genetics

Campbell, I. M., Shaw, C. A., Stankiewicz, P., & Lupski, J. R. (2015) · Trends in Genetics

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 296

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

Ben-Shachar, S., Lanpher, B., German, J. R., Qasaymeh, M., Potocki, L., Nagamani, S. C. S., Franco, L. M., Malphrus, A., Bottenfield, G. W., Spence, J. E., et al. (2009) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 261

Lessons learned from additional research analyses of unsolved clinical exome cases

Eldomery, M. K., Coban-Akdemir, Z., Harel, T., Rosenfeld, J. A., Gambin, T., Stray-Pedersen, A., Küry, S., Mercier, S., Lessel, D., Denecke, J., et al. (2017) · Genome Medicine

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 230

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Coban-Akdemir, Z., White, J. J., Song, X., Jhangiani, S. N., Fatih, J. M., Gambin, T., Bayram, Y., Chinn, I. K., Karaca, E., Punetha, J., et al. (2018) · The American Journal of Human Genetics

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 219

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

Berg, J. S., Brunetti-Pierri, N., Peters, S. U., Kang, S.-H. L., Fong, C.-T., Salamone, J., Freedenberg, D., Hannig, V. L., Prock, L. A., Miller, D. T., et al. (2007) · Genetics in Medicine

Williams Syndrome ResearchGenomic variations and chromosomal abnormalities

Cited by 193

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., et al. (2016) · The American Journal of Human Genetics

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 143

Altered neuronal network and rescue in a human MECP2 duplication model

Nageshappa, S., Carromeu, C., Trujillo, C. A., Mesci, P., Espuny-Camacho, I., Pasciuto, E., Vanderhaeghen, P., Verfaillie, C. M., Raitano, S., Kumar, A., et al. (2016) · Molecular Psychiatry

Genetics and Neurodevelopmental DisordersEpigenetics and DNA Methylation

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