J. R. Lupski

Genetics · 2001–2019

A researcher in the Science corpus: 20 papers; trusts 6 researchers and is trusted by 14 researchers here, as inferred from the citation graph.

Subfields

• Genetics — 210 citations into it; #963 of 6,854 by trust here, #263 by citations
• Molecular Biology — 152 citations into it; #9,981 of 17,773 by trust here, #3,066 by citations
• Plant Science — 77 citations into it; #1,122 of 8,232 by trust here, #636 by citations

Whom J. R. Lupski trusts overall

Their strongest outbound trust, strongest first, inferred from their citations.

1. Pawel Stankiewicz
2. D. Kleinjan
3. Jonathan Sebat
4. M. Lieber

Who trusts J. R. Lupski overall

1. W. Gu
2. Feng Zhang
3. Edwin H. Cook Jr.
4. Pawel Stankiewicz
5. P. Hastings
6. P. Hallast
7. C. Pareek
8. M. Lieber
9. C. Carvalho
10. Stephen W. Scherer

Papers from J. R. Lupski's perspective

Ordered by how strongly the researchers J. R. Lupski trusts endorse each paper. Same corpus, a different order for every researcher.

1. Large-Scale Copy Number Polymorphism in the Human Genome (Science)
2. The Influence of CCL3L1 Gene-Containing Segmental Duplications on HIV-1/AIDS Susceptibility (Science)
3. A common inversion under selection in Europeans (Nature Genetics)
4. The human genome browser at UCSC.
5. Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes (New England Journal of Medicine)
6. Segmental duplications and copy-number variation in the human genome. (American Journal of Human Genetics)
7. Long-range control of gene expression: emerging mechanisms and disruption in disease. (American Journal of Human Genetics)
8. α-Synuclein Locus Triplication Causes Parkinson's Disease (Science)
9. Mapping and sequencing of structural variation from eight human genomes (Nature)
10. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Their papers

• The complete genome of an individual by massively parallel DNA sequencing (2008) — 1,909 citations
• Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder (2001) — 675 citations
• A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. (2007) — 907 citations
• Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates (2005) — 623 citations
• A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation (2009) — 800 citations
• Insights into genetics, human biology and disease gleaned from family based genomic studies (2019) — 179 citations
• Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation (2016) — 676 citations
• Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. (2016) — 123 citations
• Mechanisms underlying structural variant formation in genomic disorders (2016) — 675 citations
• The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. (2015) — 611 citations
• Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing (2014) — 1,342 citations
• Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders (2013) — 1,887 citations
• Genome Medicine: past, present and future (2011) — 26 citations
• Structural variation in the human genome and its role in disease. (2010) — 1,226 citations
• Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy (2010) — 783 citations
• Copy Number Variation in Human Health, Disease, and Evolution (2009) — 1,196 citations
• Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities (2008) — 606 citations
• Mechanisms for human genomic rearrangements (2008) — 658 citations
• Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes (2005) — 601 citations
• Genome architecture, rearrangements and genomic disorders. (2002) — 961 citations