Author

Eva H. Baker

National Institutes of HealthORCID 0000-0001-7347-2170Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1

Frequent Co-Authors

Maria T. AcostaiD· 4 shared Precilla D’SouzaiD· 4 shared David R. AdamsiD· 3 shared Alan H. BeggsiD· 2 shared Anita E. BeckiD· 2 shared Anna Bican· 2 shared Anna Crowell· 2 shared Ashley AndrewsiD· 2 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Maria T. AcostaORCID

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Author profile →

4 papers

Recent·Most cited

AAV9 Gene Therapy in GM1 Gangliosidosis Type II: A Phase 1/2 Trial

Connor J. Lewis, Precilla D’Souza, Jean M. Johnston, Maria T. Acosta, Cristan Farmer, Eva H. Baker, Anna Crowell, Yoliann Mojica Algarin, Sumaiya Ashraf, Lisa A. Joseph, Gilbert Vézina, Zenaide Quezado, Muhammad H. Yousef, Zeynep Vardar, Mohammed Salman Shazeeb, , Cynthia J. Tifft

This phase 1/2 trial evaluates AAV9 gene therapy for GM1 gangliosidosis Type II, showing safety and some biochemical and neuroimaging improvements.

New England Journal of Medicine · Feb 6, 2026Peer-reviewedGenetic & Genomic Medicine

GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study

Precilla D’Souza, Cristan Farmer, Jean M. Johnston, Sangwoo T. Han, David R. Adams, Adam L. Hartman, Wadih M. Zein, Laryssa A. Huryn, Beth I. Solomon, Kelly A. King, Christopher Phillips Jordan, Jennifer G. Myles, Elena‐Raluca Nicoli, Caroline E Rothermel, Yoliann Mojica Algarin, , Cynthia J. Tifft

This study presents a 10-year prospective analysis of type II GM1 gangliosidosis, detailing disease progression and phenotypic features in 41 patients.

Genetics in Medicine · Apr 16, 2024Peer-reviewedGenetic & Genomic Medicine

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