| Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework SE Brnich, AN Abou Tayoun, FJ Couch, GR Cutting, MS Greenblatt, ... Genome Medicine 12 (1), 1-12, 2020 | 408 | 2020 |
| Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease K Splinter, DR Adams, CA Bacino, HJ Bellen, JA Bernstein, ... New England Journal of Medicine, 2018 | 332 | 2018 |
| The structural basis for activation of plant immunity by bacterial effector protein AvrPto W Xing, Y Zou, Q Liu, J Liu, X Luo, Q Huang, S Chen, L Zhu, R Bi, Q Hao, ... Nature 449 (7159), 243, 2007 | 231 | 2007 |
| The Legionella effector SidC defines a unique family of ubiquitin ligases important for bacterial phagosomal remodeling FS Hsu, X Luo, J Qiu, YB Teng, J Jin, MB Smolka, ZQ Luo, Y Mao Proceedings of the National Academy of Sciences 111 (29), 10538-10543, 2014 | 143 | 2014 |
| ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants X Luo, S Feurstein, S Mohan, CC Porter, SA Jackson, S Keel, M Chicka, ... Blood advances 3 (20), 2962-2979, 2019 | 133 | 2019 |
| Structure of the Legionella virulence factor, SidC reveals a unique PI (4) P-specific binding domain essential for its targeting to the bacterial phagosome X Luo, DJ Wasilko, Y Liu, J Sun, X Wu, ZQ Luo, Y Mao PLoS pathogens 11 (6), e1004965, 2015 | 104 | 2015 |
| Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially X Luo, JA Rosenfeld, S Yamamoto, T Harel, Z Zuo, M Hall, K Wierenga, ... PLoS genetics 13 (7), e1006905, 2017 | 67 | 2017 |
| Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder N Liu, K Schoch, X Luo, L Pena, VH Bhavana, MK Kukolich, S Stringer, ... Human Molecular Genetics, ddy146, 2018 | 66 | 2018 |
| ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP Guidelines CG Preston, MW Wright, R Madhavrao, S Harrison, JL Goldstein, X Luo, ... medRxiv, 2021 | 42 | 2021 |
| Clinical Genome Resource Sequence Variant Interpretation Working Group Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence … SE Brnich, AN Abou Tayoun, FJ Couch, GR Cutting, MS Greenblatt, ... Genome Med 12, 3, 2019 | 30 | 2019 |
| Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases PC Marcogliese, SL Deal, J Andrews, JM Harnish, VH Bhavana, ... Cell reports 38 (11), 110517, 2022 | 27 | 2022 |
| How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline … D Wu, X Luo, S Feurstein, C Kesserwan, S Mohan, DE Pineda-Alvarez, ... haematologica 105 (4), 870-887, 2020 | 25 | 2020 |
| Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification C Thaxton, ME Good, MT DiStefano, X Luo, EF Andersen, E Thorland, ... Human mutation 43 (8), 1031-1040, 2022 | 22 | 2022 |
| Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features X Luo, K Schoch, SV Jangam, VH Bhavana, HK Graves, S Kansagra, ... Human Molecular Genetics 30 (14), 1283-1292, 2021 | 20 | 2021 |
| Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines X Luo, JL Maciaszek, BA Thompson, H San Leong, K Dixon, S Sousa, ... Journal of Medical Genetics, 2022 | 10 | 2022 |
| Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework. Genome Med. 2019; 12 SE Brnich, AN Abou Tayoun, FJ Couch, GR Cutting, MS Greenblatt, ... Neuropediatrics 42, 78-81, 2011 | 10 | 2011 |
| Revision of RUNX1 variant curation rules S Feurstein, X Luo, M Shah, T Walker, N Mehta, D Wu, LA Godley Blood Advances 6 (16), 4726-4730, 2022 | 9 | 2022 |
| Undiagnosed Diseases Network (UDN) Wangler MF, Bellen HJ, Shashi V, Yamamoto S. Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal … N Liu, K Schoch, X Luo, LDM Pena, VH Bhavana, MK Kukolich, S Stringer, ... Hum Mol Genet 27 (14), 2454-2465, 2018 | 6 | 2018 |
| on behalf of the Clinical Genome Resource (ClinGen) CG Preston, MW Wright, R Madhavrao, SM Harrison, JL Goldstein, X Luo, ... ClinGen variant curation interface: a variant classification platform for …, 2022 | 5 | 2022 |
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