Changrui Xiao

Also affiliated with University of California, Irvine Medical Center, UC Irvine Health

Biochemistry, Genetics and Molecular BiologyNeuroscience

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 11 papers. Top paper: “Genome sequencing reveals the impact of pseudoexons in rare genetic disease”.

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

Genetics in Medicine(2025)10.1016/j.gim.2025.101574

N/A

0.269DataRank · unranked

5 citations

Megan Hawley, Light Auriga, Ivan De Dios, Arthur Ko, Sofia Marmolejos +20 more

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

Genetics in Medicine(2022)10.1016/j.gim.2022.11.017

N/A

0DataRank · unranked

34 citations

Nicole Y. Farhat, Ninet Sinaii, An Dang, Changrui Xiao, Elizabeth Berry‐Kravis +6 more

Genomic Diagnoses for Ectopic Intracerebral Calcifications

Neurology Genetics(2023)10.1212/nxg.0000000000200083

N/A

0DataRank · unranked

1 citations

Thomas Cassini, Daniel Benavides, Anusha Ebrahim, David R. Adams, Camilo Toro +1 more

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

Genetics in Medicine(2024)10.1016/j.gim.2024.101199

N/A

0DataRank · unranked

14 citations

Seth Berger, Samantha Baxter, Erica D. Smith, Changrui Xiao, Daniel G. Calame +89 more

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.02.05.579012

N/A

0DataRank · unranked

3 citations

Seth Berger, Samantha Baxter, Erica D. Smith, Changrui Xiao, Daniel G. Calame +6 more

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

medRxiv(2024)10.1101/2024.12.21.24318325

N/A

0DataRank · unranked

3 citations

Megan Hawley, Light Auriga, Ivan De Dios, Arthur Ko, Sofia Marmolejos +20 more

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Genome Medicine(2025)10.1186/s13073-025-01546-1

N/A

0DataRank · unranked

8 citations

Shruti Marwaha, Alistair Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network +94 more

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy

Genetics in Medicine(2025)10.1016/j.gim.2025.101506

N/A

0DataRank · unranked

3 citations

Chu-Ting Chang, A. Declève, Gloria Brunori, W.H. Ludlam, Alden Huang +93 more

PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1

Neurology Genetics(2021)10.1212/nxg.0000000000000606

N/A

0DataRank · unranked

3 citations

Thomas C. Markello, Wadih M. Zein, Rachel Bishop, Catherine Groden, William A. Gahl +2 more

Identification of de novo variants from parent-proband duos via long-read sequencing

medRxiv(2025)10.1101/2025.02.24.25322424

N/A

0DataRank · unranked

0 citations

Emmanuèle C. Délot, Georgia Pitsava, Christine Lambert, Cairbre Fanslow, Primo Baybayan +12 more