Author

Daniel Doherty

University of Washington

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 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Approach:statistical model· 2 Assay:long-read sequencing· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Elizabeth BlueiD· 3 shared Katrina M. DippleiD· 3 shared Michael J. BamshadiD· 3 shared Peter H. ByersiD· 3 shared Sirisak Chanprasert· 3 shared Alan H. BeggsiD· 2 shared Anita E. BeckiD· 2 shared Anna Bican· 2 shared

Activity by Year

2020-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Elizabeth BlueORCID

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Author profile →

4 papers

Recent·Most cited

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A

Andrew B. Stergachis, Elizabeth Blue, Madelyn A. Gillentine, Lee-kai Wang, Ulrike Schwarze, Adriana Estela Sedeño-Cortés, Jane Ranchalis, Aimee Allworth, Austin E. Bland, Sirisak Chanprasert, Jingheng Chen, Daniel Doherty, Andrew B. Folta, Ian A. Glass, Martha J. Horike-Pyne, , Fuki Marie Hisama

The paper uses full-length isoform sequencing to identify a splicing defect in MFN2 causing CMT2A in a patient with undiagnosed neuropathy.

Neurology Genetics · Aug 8, 2023Peer-reviewedGenetics

Cas12a-Capture: a novel, low-cost, and scalable method for targeted sequencing

Taylor L. Mighell, Andrew Nishida, Brendan L. O’Connell, Caitlin V. Miller, Sally B. Grindstaff, Casey A. Thornton, Andrew Adey, Daniel Doherty, Brian J. O’Roak

The paper introduces Cas12a-Capture, a low-cost, scalable targeted sequencing method that reduces GC bias and improves variant calling accuracy.

The CRISPR Journal · Jul 14, 2022Peer-reviewedGenomics

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