Publications
Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet. 2018 ;26(3):330-339.
. A comparative study of structural variant calling in WGS from Alzheimer's disease families. Life Sci Alliance. 2024 ;7(5).
. An Introduction to the Callithrix Genus and Overview of Recent Advances in Marmoset Research. ILAR J. 2020 ;61(2-3):110-138.
. Isochlorogenic acid A promotes melanin synthesis in B16 cell through the β-catenin signal pathway. Acta Biochim Biophys Sin (Shanghai). 2017 ;49(9):800-807.
. Elevated expression of DNA polymerase II increases spontaneous mutagenesis in Escherichia coli. Mutat Res. 2007 ;625(1-2):29-39.
. Identity and function of a large gene network underlying mutagenic repair of DNA breaks. Science. 2012 ;338(6112):1344-8.
. Spontaneous mutagenesis is elevated in protease-defective cells. Mol Microbiol. 2009 ;71(3):629-39.
. Hypermutagenesis in mutA cells is mediated by mistranslational corruption of polymerase, and is accompanied by replication fork collapse. Mol Microbiol. 2006 ;62(6):1752-63.
. Escherichia coli DNA polymerase II can efficiently bypass 3,N(4)-ethenocytosine lesions in vitro and in vivo. Mutat Res. 2006 ;593(1-2):164-76.
. The Escherichia coli UVM response is accompanied by an SOS-independent error-prone DNA replication activity demonstrable in vitro. Mol Microbiol. 2000 ;38(2):368-80.
. Detection and characterization of the flagellar master operon in the four Shigella subgroups. J Bacteriol. 1996 ;178(13):3722-6.
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Escherichia coli cells bearing mutA, a mutant glyV tRNA gene, express a recA-dependent error-prone DNA replication activity. Mol Microbiol. 1999 ;33(4):732-40.
. DNA polymerase III from Escherichia coli cells expressing mutA mistranslator tRNA is error-prone. J Biol Chem. 2002 ;277(48):46319-27.
. A Mendelian randomization of γ' and total fibrinogen levels in relation to venous thromboembolism and ischemic stroke. Blood. 2020 ;136(26):3062-3069.
. Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study. Pediatr Hematol Oncol. 2023 ;40(8):719-738.
. Durable Response to Larotrectinib in a Child With Histologic Diagnosis of Recurrent Disseminated Ependymoma Discovered to Harbor an Fusion: The Impact of Integrated Genomic Profiling. JCO Precis Oncol. 2021 ;5.
. Novel Anaplastic Thyroid Cancer PDXs and Cell Lines: Expanding Preclinical Models of Genetic Diversity. J Clin Endocrinol Metab. 2021 ;106(11):e4652-e4665.
. Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient. Brain. 2022 ;145(5):e36-e40.
. Editorial: Neurogenetic disorders: from the tests to the clinic. Front Neurol. 2023 ;14:1236350.
. FOXI3 pathogenic variants cause one form of craniofacial microsomia. Nat Commun. 2023 ;14(1):2026.
. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain. 2022 ;145(3):909-924.
. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. Am J Hum Genet. 2022 ;109(9):1713-1723.
. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol. 2020 ;7(5):610-627.
. Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res. 2007 ;17(6):760-74.
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