Our site may be slower due to heavy traffic from automated "bots" and AI crawlers. We're working to fix this.

Changrui Xiao

Title(s)Assistant Clinical Professor, Neurology
SchoolSchool of Medicine
Address1001 Health Sciences Road
Irvine CA 92697-3950
Phone(714) 456-7002, (714) 456-6808
vCardDownload vCard

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Identification of de novo variants from parent-proband duos via long-read sequencing. Am J Hum Genet. 2026 Mar 05; 113(3):437-452. Boukas L, Délot EC, Pitsava G, Lambert C, Fanslow C, Baybayan P, Belhadj S, Losic B, Harting J, Bluske K, LoTempio J, Al-Kouatly HB, Karam R, Rowell WJ, Xiao C, Vilain E, Berger SI. PMID: 41795468; PMCID: PMC12987547.
      View in: PubMed   Mentions:
    2. Kauro, a graph-based chatbot for high-fidelity information transmission conversations. medRxiv. 2026 Feb 02. King CH, Barrick R, Almalvez M, Blanco K, De Dios I, Fusaro VA, Délot E, Donohue C, Berger S, Xiao C, UCI GREGoR Site, Vilain E, LoTempio J. PMID: 41674589; PMCID: PMC12889763.
      View in: PubMed   Mentions:
    3. Response to Spurdle et al. Genet Med. 2026 Jan; 28(1):101637. Berger SI, Pitsava G, Xiao C, Délot EC, Vilain E. PMID: 41511481.
      View in: PubMed   Mentions:    Fields:    
    4. A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases. Mol Genet Genomic Med. 2025 Dec; 13(12):e70172. Dutta R, Duong C, Kimonis V, Xiao C. PMID: 41431246; PMCID: PMC12723074.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    5. Genome sequencing reveals the impact of pseudoexons in rare genetic disease. Genet Med. 2025 Nov; 27(11):101574. Pitsava G, Hawley M, Auriga L, de Dios I, Ko A, Marmolejos S, Almalvez M, Chen I, Scozzaro K, Zhao J, Barrick R, Ah Mew N, Fusaro VA, LoTempio J, Taylor M, Mestroni L, Graw S, Milewicz D, Guo D, Murdock DR, Bujakowska KM, UCI-GREGoR Consortium, Xiao C, Délot EC, Berger SI, Vilain E. PMID: 40927908; PMCID: PMC12501780.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    6. Selumetinib in Adult Neurofibromatosis 1 with Plexiform Neurofibroma. Pharmaceuticals (Basel). 2025 Jul 13; 18(7). Yuen CA, Chu E, O'Connell R, Sun BK, Vyas R, Zheng M, Elliott E, Xiao C. PMID: 40732327; PMCID: PMC12298819.
      View in: PubMed   Mentions:
    7. Genome sequencing reveals the impact of pseudoexons in rare genetic disease. medRxiv. 2025 Jun 18. Pitsava G, Hawley M, Auriga L, de Dios I, Ko A, Marmolejos S, Almalvez M, Chen I, Scozzaro K, Zhao J, Barrick R, Mew NA, Fusaro VA, LoTempio J, Taylor M, Mestroni L, Graw S, Milewicz D, Guo D, Murdock DR, Bujakowska KM, UCI-GREGoR Consortium, Xiao C, Délot EC, Berger SI, Vilain E. PMID: 39763557; PMCID: PMC11703292.
      View in: PubMed   Mentions:
    8. The importance of residual newborn screening dried blood spots, 2025 revision: A position statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2025 Aug; 27(8):101433. Rose NC, Caggana M, Dinulos MB, Francis L, Lloyd-Puryear MA, Matthews A, McClure ML, Powell CM, Xiao C, ACMG Advocacy and Government Affairs Committee. Electronic address: documents@acmg.net. PMID: 40498434.
      View in: PubMed   Mentions:    Fields:    
    9. Identification of de novo variants from parent-proband duos via long-read sequencing. medRxiv. 2025 Feb 26. Boukas L, Délot EC, Pitsava G, Lambert C, Fanslow C, Baybayan P, Belhadj S, Losic B, Harting J, Bluske K, LoTempio J, Al-Kouatly H, Karam R, Rowell W, Xiao C, Vilain E, Berger SI. PMID: 40061346; PMCID: PMC11888490.
      View in: PubMed   Mentions:
    10. Cutaneous manifestations in D-2-hydroxyglutaric aciduria type 2 and response to enasidenib therapy. JAAD Case Rep. 2025 Feb; 56:11-13. Roux J, Brody G, Metz B, Gao J, Xiao C, Chang RC. PMID: 39839460; PMCID: PMC11750430.
      View in: PubMed   Mentions:
    11. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatr Neurol. 2024 Nov; 160:45-53. Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO, Undiagnosed Diseases Network, Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, Wünsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. PMID: 39181022.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    12. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov; 26(11):101218. Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H, Undiagnosed Diseases Network, Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. PMID: 39036895; PMCID: PMC11648989.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimals
    13. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature. 2024 Aug; 632(8026):832-840. Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JMM, Sanders SJ, O'Donnell-Luria A, Whiffin N. PMID: 38991538; PMCID: PMC11338827.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansCells
    14. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. Genet Med. 2024 Oct; 26(10):101199. Chong JX, Berger SI, Baxter S, Smith E, Xiao C, Calame DG, Hawley MH, Rivera-Munoz EA, DiTroia S, Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium, Bamshad MJ, Rehm HL. PMID: 38944749; PMCID: PMC11456385.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    15. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv. 2024 Jun 21. Chong JX, Berger SI, Baxter S, Smith E, Xiao C, Calame DG, Hawley MH, Rivera-Munoz EA, DiTroia S, Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium, Bamshad MJ, Rehm HL. PMID: 38370830; PMCID: PMC10871197.
      View in: PubMed   Mentions:
    16. Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder. Genet Med. 2024 Sep; 26(9):101166. Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM, Undiagnosed Diseases Network, Worthey EA, Ashley EA, Montgomery SB, Fisher PG, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. PMID: 38767059; PMCID: PMC11451386.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    17. De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv. 2024 Apr 09. Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N. PMID: 38645094; PMCID: PMC11030480.
      View in: PubMed   Mentions: 1  
    18. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis. Genet Med. 2024 06; 26(6):101115. Pucel J, Briere LC, Reuter C, Gochyyev P, Undiagnosed Diseases Network, LeBlanc K. PMID: 38436216; PMCID: PMC11161308.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    19. Genomic Diagnoses for Ectopic Intracerebral Calcifications. Neurol Genet. 2023 Oct; 9(5):e200083. Xiao C, Cassini T, Benavides D, Ebrahim A, Adams D, Toro C. PMID: 37547187; PMCID: PMC10399077.
      View in: PubMed   Mentions: 1  
    20. Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1. Genet Med. 2023 03; 25(3):100349. Agrawal N, Farhat NY, Sinaii N, Do AD, Xiao C, Berry-Kravis E, Bianconi S, Masvekar R, Bielekova B, Solomon B, Porter FD. PMID: 36470574; PMCID: PMC9992339.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    21. Adults with lysosomal storage diseases in the undiagnosed diseases network. Mol Genet Genomic Med. 2022 09; 10(9):e2013. Xiao C, Koziura M, Cope H, Spillman R, Tan K, Hisama FM, Tifft CJ, Toro C. PMID: 35848209; PMCID: PMC9482386.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    22. PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1. Neurol Genet. 2021 Aug; 7(4):e606. Xiao C, Markello T, Zein WM, Bishop R, Groden C, Gahl W, Toro C. PMID: 34277935; PMCID: PMC8284080.
      View in: PubMed   Mentions: 1  
    23. Inherited disorders of complex lipid metabolism: A clinical review. J Inherit Metab Dis. 2021 07; 44(4):809-825. Xiao C, Rossignol F, Vaz FM, Ferreira CR. PMID: 33594685.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    24. Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2. Am J Med Genet A. 2020 10; 182(10):2426-2431. Xiao C, Astiazaran-Symonds E, Basu S, Kisling M, Scaglia F, Chapman KA, Wang Y, Vockley J, Ferreira CR. PMID: 32804429; PMCID: PMC8543298.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    25. A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation. Neurol Genet. 2019 10; 5(5):e357. Xiao C, Binkley EM, Rexach J, Knight-Johnson A, Khemani P, Fogel BL, Das S, Stone EM, Gomez CM. PMID: 31750392; PMCID: PMC6812731.
      View in: PubMed   Mentions: 19  
    26. Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia. Neuron. 2016 Dec 21; 92(6):1238-1251. Rittiner JE, Caffall ZF, Hernández-Martinez R, Sanderson SM, Pearson JL, Tsukayama KK, Liu AY, Xiao C, Tracy S, Shipman MK, Hickey P, Johnson J, Scott B, Stacy M, Saunders-Pullman R, Bressman S, Simonyan K, Sharma N, Ozelius LJ, Cirulli ET, Calakos N. PMID: 27939583; PMCID: PMC5320521.
      View in: PubMed   Mentions: 48     Fields:    Translation:HumansAnimalsCells
    Changrui's Networks
    Concepts (93)
    Derived automatically from this person's publications.
    Explore
    _
    Co-Authors (20)
    People in Profiles who have published with this person.
    Explore
    _
    Similar People (60)
    People who share similar concepts with this person.
    Explore
    _
    Same Department
    Search Department
    _

    UCI Profiles is managed by the UCSF Clinical and Translational Science Institute (CTSI), part of the Clinical and Translational Science Award program funded by the National Center for Advancing Translational Sciences (Grant Number UL1 TR000004) at the National Institutes of Health (NIH).
    This site is running Profiles RNS version UCSF-v3.1.0-21-g9d46e6c4 on PROFILES-PWEB04. We use cookies to operate our website. We also use cookies to analyze our site’s performance and improve your experience on our site. For more information about how we use cookies, please see our Website Terms of Use.

    Copyright © The Regents of the University of California