Publications
Epigenetic and integrative cross-omics analyses of cerebral white matter hyperintensities on MRI. Brain. 2023 ;146(2):492-506.
. De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila. Hum Mol Genet. 2022 ;31(19):3231-3244.
. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 ;185(1):119-133.
. Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family. J Neurointerv Surg. 2020 ;12(2):221-226.
. Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors. Proc Natl Acad Sci U S A. 2019 ;116(43):21715-21726.
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Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet. 2017 ;49(4):527-536.
. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 ;100(2):343-351.
. REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet. 2017 ;101(1):149-156.
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BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children. Mod Pathol. 2015 ;28(4):575-86.
. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 ;125(2):636-51.
. Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney. Nat Commun. 2015 ;6:8891.
. Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia. Nat Commun. 2015 ;6:6604.
. Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes. PLoS One. 2014 ;9(8):e104452.
. Genomic and proteomic analysis of transcription factor TFII-I reveals insight into the response to cellular stress. Nucleic Acids Res. 2014 ;42(12):7625-41.
. . . Mutations in KCTD1 cause scalp-ear-nipple syndrome. Am J Hum Genet. 2013 ;92(4):621-6.
. Loss of Rho GDIα and resistance to tamoxifen via effects on estrogen receptor α. J Natl Cancer Inst. 2011 ;103(7):538-52.
. Zebrafish dax1 is required for development of the interrenal organ, the adrenal cortex equivalent. Mol Endocrinol. 2006 ;20(11):2630-40.
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