Concepedia

Changrui Xiao

CX

8

Publications

297

Citations

8

H-Index

2016

Active since

Affiliations

National Human Genome Research Institute(Current)

Baylor College of Medicine

Boston Children's Hospital

Brigham and Women's Hospital

The University of Melbourne

Changrui Xiao is an author at National Human Genome Research Institute specializing in medicine, neurodegenerative diseases, and neuroscience.

ORCID

Top concepts

Publications per year

2016–2024

8

Publications

8

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 93 citations · Full text

Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia

Joseph E. Rittiner, Zachary F. Caffall, Ricardo Hernández et al. · Neuron · 2016 · 88 citations · Full text

, , +8

A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an <i>ELOVL4</i> mutation

Changrui Xiao, Elaine M. Binkley, Jessica E. Rexach et al. · Neurology Genetics · 2019 · 34 citations · Full text

Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1

Neena Agrawal, Nicole Y. Farhat, Ninet Sinaii et al. · Genetics in Medicine · 2022 · 32 citations · Full text

, , +10

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Suma P. Shankar, Kristin Grimsrud, Louise Lanoue et al. · Genetics in Medicine · 2022 · 16 citations · Full text

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