Author

David D. Draper

National Institutes of Health

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 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:statistical model· 2 Organism:Drosophila· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alan H. BeggsiD· 3 shared Anna Bican· 3 shared Ashok BalasubramanyamiD· 3 shared Carlos A. BacinoiD· 3 shared Christine M. EngiD· 3 shared Cynthia M. CooperiD· 3 shared David J. EcksteiniD· 3 shared David R. AdamsiD· 3 shared

Activity by Year

2018-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Alan H. BeggsORCID

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3 papers

Recent·Most cited

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach, Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London, Jill Anne Rosenfeld, Erin E. Torti, Chad R. Haldeman‐Englert, Evgenia Sklirou, Elena Kessler, Sophia Ceulemans, Stanley F. Nelson, Julián A. Martínez-Agosto, Christina G.S. Palmer, , Elizabeth L. Fieg

The paper identifies de novo PRKAR1B variants in six individuals with neurodevelopmental disorder, autism, apraxia, and reduced pain sensitivity.

Genetics in Medicine · Apr 8, 2021Peer-reviewedGenetic & Genomic Medicine

De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation

Dongxue Mao, Chloe M. Reuter, Maura R. Z. Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick, Jill Anne Rosenfeld, Katherine M. Mackenzie, Laurie A. Robak, Matthew Thomas Wheeler, Lindsay Catherine Burrage, Mahim Jain, Pengfei Liu, Daniel G. Calame, Sébastien Küry, , Christine M. Eng

The paper identifies de novo variants in EIF2AK1 and EIF2AK2 associated with neurodevelopmental disorders and leukoencephalopathy, showing similar pathogenic mechanisms to CACH/VWM.

The American Journal of Human Genetics · Mar 19, 2020Peer-reviewedGenetics

Loss-of-function in IRF2BPL is associated with neurological phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill Anne Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, Matthew R. Herzog, Agnes H. Chen, Patricia Dickson, Henry J. Lin, Moin U. Vera, Noriko Salamon, John M. Graham, Damara N. Ortiz, , Noah D. Friedman

This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.

The American Journal of Human Genetics · Jul 26, 2018Peer-reviewedGenetics