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Author Details

Xi Luo
Baylor College of Medicine
2014
12
9
PMIDPaper TitleJournal TitlePublished Year
36757497Identification of genetic susceptibility in preterm newborns with bronchopulmonary dysplasia by whole-exome sequencing: BIVM gene may play a role.Eur J Pediatr2023
36600593Optimising clinical care through <i>CDH1</i>-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.J Med Genet2023
34694049Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification.Hum Mutat2022
35764482Revision of RUNX1 variant curation rules.Blood Adv2022
33864376Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.Hum Mol Genet2021
32165484How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for <i>RUNX1</i> variant curation for germline predisposition to myeloid malignancies.Haematologica2020
31648317ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.Blood Adv2019
29726930Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.Hum Mol Genet2018
30304647Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.N Engl J Med2018
28742085Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.PLoS Genet2017
26067986Structure of the Legionella Virulence Factor, SidC Reveals a Unique PI(4)P-Specific Binding Domain Essential for Its Targeting to the Bacterial Phagosome.PLoS Pathog2015
25006264The Legionella effector SidC defines a unique family of ubiquitin ligases important for bacterial phagosomal remodeling.Proc Natl Acad Sci U S A2014
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John J Mulvihill
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Michael Chicka
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Release 1.2