Author

Eugen Boltshauser

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

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Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anita Rauch· 1 shared Deborah A Nickerson· 1 shared Holly K Tabor· 1 shared Jessica Chong· 1 shared Joon-Ho Yu· 1 shared Karen Park· 1 shared Karynne E Patterson· 1 shared Margarita Sifuentes Saenz· 1 shared

Activity by Year

2015-2015 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Anita Rauch

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1 paper

Recent·Most cited

GeneticsbioRxivOct 3, 2015

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

Jessica Chong, Joon-Ho Yu, Peter Lorentzen…·Michael J Bamshad

This paper identifies de novo variants in KDM1A causing a new syndrome with developmental delay and distinctive facial features by leveraging social networking among families and researchers.

DOI 10.1038/gim.2015.161

humanwhole-exome sequencing

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