Author

Beverly Berg-Rood

Seattle Children's Hospital

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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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1

Frequent Co-Authors

Alan H. BeggsiD· 2 shared Anita E. BeckiD· 2 shared Anna Bican· 2 shared Ashley AndrewsiD· 2 shared Ashok BalasubramanyamiD· 2 shared Carlos A. BacinoiD· 2 shared Carsten Bonnenmann· 2 shared Christine M. EngiD· 2 shared

Activity by Year

2020-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alan H. BeggsORCID

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2 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