Author

David Mittelman

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2 Evolutionary Biology· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Assay:whole-genome sequencing· 4 Approach:statistical model· 3 Research Focus:variant calling· 3 Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Research Focus:database / resource· 1 Approach:experimental assay· 1

Frequent Co-Authors

Gareth Highnam· 4 shared Han FangiD· 2 shared Yiyang Wu· 2 shared - The 1000 Genomes Project· 1 shared Alan Rope· 1 shared Andreas Wagner· 1 shared Andrew Sharp· 1 shared David Comas· 1 shared

Activity by Year

2014-2015 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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4 shared papersGenetics

Gareth Highnam

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4 papers

Recent·Most cited

A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features

Jason O'Rawe, Yiyang Wu, Alan Rope, Laura T. Jimenez Barrón, Jeffrey Swensen, Han Fang, David Mittelman, Gareth Highnam, Reid Robison, Edward Yang, Kai Wang, Gholson Lyon

The paper identifies a maternally inherited TAF1 variant in two brothers with severe intellectual disability and distinctive facial features, linking it to a new syndrome.

The American Journal of Human Genetics · Dec 1, 2015Peer-reviewedGenetics

Whole genome analysis of an extended pedigree with Prader–Willi Syndrome, hereditary hemochromatosis, and dysautonomia-like symptoms

Han Fang, Yiyang Wu, Margaret Yoon, Laura T. Jiménez-Barrón, Jason A. O’Rawe, Gareth Highnam, David Mittelman, Gholson J. Lyon

This paper reports whole genome sequencing of a family with PWS, HH, and dysautonomia-like symptoms, identifying genetic variants and highlighting the importance of standardized phenotypic and genomic data.

bioRxiv · May 11, 2015 · PreprintGenetics

Tandem repeat variation in human and great ape populations and its impact on gene expression divergence

Tugce Bilgin Sonay, Tiago Carvalho, Mark Robinson, Maja Greminger, Michael Krützen, David Comas, Gareth Highnam, David Mittelman, Andrew Sharp, Tomas Marques-Bonet, Andreas Wagner

This study analyzes tandem repeat variation across human and great ape genomes and its effect on gene expression divergence.

bioRxiv · Feb 27, 2015Evolutionary Biology

The Landscape of Human STR Variation

Thomas F. Willems, Melissa Gymrek, Gareth Highnam, - The 1000 Genomes Project, David Mittelman, Yaniv Erlich

The paper analyzes human STR variation across 1,000 genomes, identifies common loss-of-function alleles, and estimates linkage disequilibrium with SNPs.

Genome Research · Aug 18, 2014Peer-reviewedGenomics