Changrui Xiao

Title(s)	Assistant Clinical Professor, Neurology
School	School of Medicine
Address	1001 Health Sciences Road Irvine CA 92697-3950
Phone	(714) 456-7002, (714) 456-6808
vCard	Download vCard

Bibliographic

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.

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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:
Genome sequencing reveals the impact of non-canonical exon inclusions in rare genetic disease. medRxiv. 2024 Dec 26. 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.

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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.

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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: 19 Fields:
Sci Science
Translation:Humans Cells
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: 2 Fields:
Gen Genetics
Translation:Humans
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.

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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
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
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: 13 Fields:
Gen Genetics
Translation:Humans Cells
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: 1 Fields:
Gen Genetics Mol Molecular Biology
Translation:Humans
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
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:
Met Metabolism
Translation:Humans Cells
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: 5 Fields:
Gen Genetics
Translation:Humans Cells
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