Changrui Xiao

9PUBLICATIONS
64CO-AUTHORS
Psychology of ageingFairness, accountability, transparency, trust and ethics of computer systemsEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseases
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Publications (9)

|May 05, 2026
Defining Features of Gabriele-de Vries Syndrome in Adults: A Case Report and Literature Review.

|Feb 12, 2026
Kauro, a graph-based chatbot for high-fidelity information transmission conversations.

Charles Hadley King, Rebekah Barrick, Miguel Almalvez

|Dec 23, 2025
A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases.

Rajeev Dutta, Cathy Duong, Virginia Kimonis

|Jan 07, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic disease.

Georgia Pitsava, Megan Hawley, Light Auriga

|Apr 22, 2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim

|Feb 19, 2024
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.

Jessica X Chong, Seth I Berger, Samantha Baxter

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Frequent Collaborators

4 joint publications

Seth I Berger

3 joint publications

Eric Vilain

2 joint publications

Heidi L Rehm

1 joint publications

Carlos R Ferreira