Grace Yoon

ORCID

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 7

Top Venues

Nature communications

Annals of neurology

Journal of medical genetics

Acta neuropathologica communications

This page only lists publications with an associated author ORCID identifier.

Publications

Debjit Khan, Iyappan Ramachandiran, Kommireddy Vasu, Arnab China, Krishnendu Khan, Fabio Cumbo, Dalia Halawani, Fulvia Terenzi, Isaac Zin, Briana Long, Gregory Costain, Susan Blaser, Amanda Carnevale, Valentin Gogonea, Ranjan Dutta, Daniel Blankenberg, Grace Yoon, Paul L Fox
Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m 6 A site accessibility. Nature communications 15 (1) (2024)
Debjit Khan, Iyappan Ramachandiran, Kommireddy Vasu, Arnab China, Krishnendu Khan, Fabio Cumbo, Dalia Halawani, Fulvia Terenzi, Isaac Zin, Briana Long, Gregory Costain, Susan Blaser, Amanda Carnevale, Valentin Gogonea, Ranjan Dutta, Daniel Blankenberg, Grace Yoon, Paul L Fox
Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m 6 A site accessibility. Nature communications 15 (1) (2024)
Debjit Khan, Iyappan Ramachandiran, Kommireddy Vasu, Arnab China, Krishnendu Khan, Fabio Cumbo, Dalia Halawani, Fulvia Terenzi, Isaac Zin, Briana Long, Gregory Costain, Susan Blaser, Amanda Carnevale, Valentin Gogonea, Ranjan Dutta, Daniel Blankenberg, Grace Yoon, Paul L Fox
Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m 6 A site accessibility. Nature communications 15 (1) (2024)
Debjit Khan, Iyappan Ramachandiran, Kommireddy Vasu, Arnab China, Krishnendu Khan, Fabio Cumbo, Dalia Halawani, Fulvia Terenzi, Isaac Zin, Briana Long, Gregory Costain, Susan Blaser, Amanda Carnevale, Valentin Gogonea, Ranjan Dutta, Daniel Blankenberg, Grace Yoon, Paul L Fox
Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m 6 A site accessibility. Nature communications 15 (1) (2024)
Magdalena Mroczek, Cheryl Longman, Maria Elena Farrugia, Solange Kapetanovic Garcia, Didem Ardicli, Haluk Topaloglu, Aurelio Hernández-Laín, Diclehan Orhan, Mehmet Alikasifoglu, Jennifer Duff, Sabine Specht, Kristen Nowak, Gianina Ravenscroft, Katherine Chao, Zaheer Valivullah, Sandra Donkervoort, Dimah Saade, Carsten Bönnemann, Volker Straub, Grace Yoon
FXR1 -related congenital myopathy: expansion of the clinical and genetic spectrum. Journal of medical genetics 59 (11) (2022)
Mehrdad A Estiar, Noor Lail, David A Dyment, Parizad Varghaei, Taila Hartley, Meredith K Gillespie, Grace Yoon, Kym M Boycott, Guy A Rouleau, Ziv Gan Or
Heterozygous de novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia. Annals of neurology (2021)
Aristides Hadjinicolaou, Kathie J Ngo, Daniel Y Conway, John P Provias, Steven K Baker, Lauren I Brady, Craig L Bennett, Albert R La Spada, Brent L Fogel, Grace Yoon
De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy. Acta neuropathologica communications 9 (1) (2021)

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Publication Activity (10 Years)

Top Topics

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Grace Yoon