Xi Luo, Ph.D.

Assistant Professor / Associate Clinical Director

Email

xi.luo@bcm.edu

Positions

Assistant Professor / Associate Clinical Director: Molecular and Human Genetics
Baylor Genetics
Baylor College of Medicine
Houston, TX, USA

Staff Scientist/ClinGen: Pediatrics-Oncology
Dr. Sharon E. Plon Group
Baylor College of Medicine
Houston, TX, US
2018-2021

Addresses

2450 Holcombe Blvd. (Office): Houston, 77021
United States

Education

Fellowship at ACGME Laboratory Genetics and Genomics (LGG) Fellow at Baylor College of Medicine: 06/2023 - Houston

Postdoctoral Fellowship at Hugo Bellen lab, Baylor College of Medicine, Undiagnosed Disease Network (UDN): 01/2018 - Houston, TX

PhD from Cornell University: 08/2015 - Ithaca, NY

MS from University of Rochester: 08/2011 - Rochester, NY

BS from Nankai University: 05/2007 - Tianjin, China

Websites

ClinGen

Baylor Genetics

Selected Publications

Xi Luo*, Jamie L. Maciaszek*, ..., Sharon E. Plon, Kasmintan A. Schrader, Rachid Karam. (*equal contribution). " Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines. " Journal of Medical Genetics. 2022 Dec 7; jmg (2022) : 108807.
Luo X*, Feurstein S*, Shah M, Walker T, Mehta N, Wu D, Godley LA. (*equal contribution). " Revision of RUNX1 variant curation rules. " Blood Advances. 2022 Aug 23; 6 (16) : 4726-4730.
Pubmed PMID: 35764482.
Marcogliese PC, ..., Luo X, Liu N, ..., Rosenfeld JA, Marom R, Wangler MF, Yamamoto S.. " Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. " Cell Report. 2022 Mar 15; 38 (11) : 110517.
Pubmed PMID: 35294868.
Preston CG, Wright MW... Luo X, ... Berg JS, Rehm HL, Plon SE, Cherry JM, Bustamante CD, Costa HA.. " ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines. " Genome Medicine. 2022 Jan 18; 14 (1) : 6.
Pubmed PMID: 35039090.
Thaxton C, Good ME, DiStefano MT, Luo X, Andersen EF, Thorland E, Berg J, Martin CL, Rehm HL, Riggs ER; ClinGen Gene Curation Working Group; ClinGen Dosage Sensitivity Working Group.. " Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification. " Human Mutation. 2021 Oct 25; 43 (8) : 1031-1040.
Pubmed PMID: 34694049.
Luo X, Schoch K, Jangam SV, Bhavana VH, Graves HK, Kansagra S, Jasien J, Stong N, Keren B, Mignot C, Ravelli C; Undiagnosed Diseases Network (UDN), Bellen HJ, Wangler MF, Shashi V, Yamamoto S.. " Rare deleterious de novo missense variants in RNF2/RING2 are associated with a neurodevelopmental disorder with unique clinical features " Human Molecular Genetics. 2021 Jun 26; 30 (14) : 1283-1292.
Pubmed PMID: 33864376.
Xi Luo*, David Wu*, Simone Feurstein, Chimene Kesserwan, Shruthi Mohan, and Lucy A. Godley on behalf of ASH-ClinGen Myeloid Malignancy Variant Curation Expert Panel. " How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies " Haematologica. 2020 Mar 12; 105 (4) : 870–887.
Pubmed PMID: 32165484.
Sarah Brnich ... Xi Luo ... Steven Harrison, Leslie Biesecker, Jonathan Berg; the Clinical Genome Resource Sequence Variant Interpretation Working Group. " Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework " Genome Medicine. 2019 Dec 31; 12 (1) : 3.
Pubmed PMID: 31892348.
Xi Luo*, Simone Feurstein*, Shruthi Mohan ... Sharon E. Plon, David Wu, and Lucy A. Godley. " ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants " Blood Advances. 2019 Oct 22; 3 (20) : 2962-2979.
Pubmed PMID: 31648317.
Kimberly Splinter, David R. Adams, Carlos A. Bacino, Hugo J. Bellen ... Christine M. Eng ... Brendan H. Lee ... Xi Luo ... Michael F. Wangler ... Shinya Yamamoto, and Euan A. Ashley for the Undiagnosed Diseases Network. " Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. " The New England Journal of Medicine. 2018 Oct 10; 10 (1056) : NEJMoa1714458.
Pubmed PMID: 30304647.
Xi Luo*, Ning Liu*, Kelly Schoch* ... Shashi Vandana, Shinya Yamamoto. " Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder " Human Molecular Genetics. 2018 May 2; ddy146.
Pubmed PMID: 29726930.
Xi Luo*, Jill A Rosenfeld* ... Hugo J Bellen, Michael F Wangler. " Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially " PLoS genetics. 2017 Jul 24; 13 (7) : e1006905.
Pubmed PMID: 28742085.
Xi Luo, David J Wasilko, Yao Liu, Jiayi Sun, Xiaochun Wu, Zhao-Qing Luo, Yuxin Mao. " Structure of the Legionella virulence factor, SidC reveals a unique PI (4) P-specific binding domain essential for its targeting to the bacterial phagosome " PLoS pathogens. 2015 Jun 12; 11 (6) : e1004965.
Pubmed PMID: 26067986.
Xi Luo*, FoSheng Hsu*, Jiazhang Qiu, Yan-Bin Teng, Jianping Jin, Marcus B Smolka, Zhao-Qing Luo, Yuxin Mao. " The Legionella effector SidC defines a unique family of ubiquitin ligases important for bacterial phagosomal remodeling " Proceedings of the National Academy of Sciences. 2014 Jul 22; 111 (29) : 10538-10543.
Pubmed PMID: 25006264.
Weiman Xing, Yan Zou, Qun Liu, Jianing Liu, Xi Luo, Qingqiu Huang, She Chen, Lihuang Zhu, Ruchang Bi, Quan Hao, Wu Jia-Wei, Jian-Min Zhou, Jijie Chai. " The structural basis for activation of plant immunity by bacterial effector protein AvrPto " Nature. 2007 Sep 13; 449 (7159) : 243.
Pubmed PMID: 17694048.
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder " American Journal of Human Genetics. 2025 Jan 5;
Pubmed PMID: 40367947.
Effective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADD " Mol Genet Metab. 2025 Aug ;
Pubmed PMID: 40660651.
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function " Elife. 2025 Aug 27;
Pubmed PMID: 40862571.
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2 " Genetics in Medicine. 2025 Oct 14;
Pubmed PMID: 41104538.
TPI deficiency: A case report and review of the literature " Molecular Genetics and Metabolism. 2025 Oct ;
Pubmed PMID: 40897044.
Detecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs) " Molecular Genetics and Metabolism. 2025 Oct 8;
Pubmed PMID: 41086592.
Franz Müller, Sonja Neuser, ... Jill A Rosenfeld, Elizabeth Mizerik, Swati Srivastava, Xi Luo, ..., Dmitrij Ljaschenko. " Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila " Biochemistry and Biophysics Reports. 2025 Nov 28; 45 : 102375.
Pubmed PMID: 41399760.