Michael Bamshad

Genetics · 2004–2019

A researcher in the Science corpus: 14 papers; trusts 5 researchers and is trusted by 3 researchers here, as inferred from the citation graph.

Subfields

• Genetics — 128 citations into it; #3,801 of 6,854 by trust here, #258 by citations
• Molecular Biology — 85 citations into it; #11,317 of 17,773 by trust here, #2,484 by citations

Whom Michael Bamshad trusts overall

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

1. Bingshan Li
2. B. E. Madsen
3. G. Kryukov
4. Elizabeth T. Cirulli
5. Ivan A. Adzhubei
6. Suzanne M. Leal
7. Sharon R. Browning
8. David B. Goldstein
9. Brian J. O'Roak
10. Len A. Pennacchio

Who trusts Michael Bamshad overall

1. Lawrence Lin
2. Daniel C. Koboldt
3. Xiaoming Liu
4. C. Rellstab
5. Daniele Raimondi
6. Heng Li
7. Computational Pan-Genomics Consortium

Papers from Michael Bamshad's perspective

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

1. Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. (American Journal of Human Genetics)
2. Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol (Science)
3. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. (American Journal of Human Genetics)
4. Common and rare variants in multifactorial susceptibility to common diseases (Nature Genetics)
5. Uncovering the roles of rare variants in common disease through whole-genome sequencing
6. A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic (PLoS Genetics)
7. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma (Proceedings of the National Academy of Sciences of the United States of America)
8. Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect against Type 1 Diabetes (Science)
9. Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing (Journal of the American Medical Association (JAMA))
10. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Their papers

• Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes (2012) — 1,698 citations
• Analysis of 6,515 exomes reveals a recent origin of most human protein-coding variants (2012) — 970 citations
• Exome sequencing identifies the cause of a Mendelian disorder (2009) — 2,093 citations
• Single-nucleotide evolutionary constraint scores highlight disease-causing mutations (2010) — 208 citations
• Analysis of Genetic Inheritance in a Family Quartet by Whole Genome Sequencing (2010) — 666 citations
• Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B (2004) — 723 citations
• NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome (2004) — 623 citations
• Insights into genetics, human biology and disease gleaned from family based genomic studies (2019) — 179 citations
• Mendelian Gene Discovery: Fast and Furious with No End in Sight. (2019) — 210 citations
• The Simons Genome Diversity Project: 300 genomes from 142 diverse populations (2016) — 1,396 citations
• Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. (2012) — 1,064 citations
• Exome sequencing as a tool for Mendelian disease gene discovery (2011) — 1,755 citations
• Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome (2010) — 1,398 citations
• The Influence of CCL3L1 Gene-Containing Segmental Duplications on HIV-1/AIDS Susceptibility (2005) — 1,188 citations