Publications
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. J Clin Invest. 2016 ;126(8):2881-92.
. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 ;108(9):1710-1724.
. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. J Inherit Metab Dis. 2023 ;46(6):1195-1205.
. Fidelity of targeted recombination in human fibroblasts and murine embryonic stem cells. Proc Natl Acad Sci U S A. 1991 ;88(18):8067-71.
. The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. Cell Metab. 2015 ;21(3):417-27.
. Loss of growth factor dependence and conversion of transforming growth factor-beta 1 inhibition to stimulation in metastatic H-ras-transformed murine fibroblasts. Cancer Res. 1988 ;48(24 Pt 1):6999-7003.
. Natural killer cell regulation of implantation and early lung growth of H-ras-transformed 10T1/2 fibroblasts in mice. Cancer Res. 1987 ;47(18):4801-5.
. Leptin mediates tumor-stromal interactions that promote the invasive growth of breast cancer cells. Cancer Res. 2012 ;72(6):1416-27.
. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 ;157(3):636-50.
. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet. 2012 ;44(11):1249-54.
. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet. 2013 ;93(3):471-81.
. Loss of growth factor dependence and conversion of transforming growth factor-beta 1 inhibition to stimulation in metastatic H-ras-transformed murine fibroblasts. Cancer Res. 1988 ;48(24 Pt 1):6999-7003.
. Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis. Genet Epidemiol. 2016 ;40(6):486-91.
. Orphan nuclear receptor GCNF is required for the repression of pluripotency genes during retinoic acid-induced embryonic stem cell differentiation. Mol Cell Biol. 2005 ;25(19):8507-19.
. Growth factor-induced transcription of GluR1 increases functional AMPA receptor density in glial progenitor cells. J Neurosci. 1997 ;17(1):227-40.
. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet. 2019 ;104(2):213-228.
. A Mendelian randomization of γ' and total fibrinogen levels in relation to venous thromboembolism and ischemic stroke. Blood. 2020 ;136(26):3062-3069.
. Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology. Nat Genet. 2017 ;49(11):1560-1563.
. Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF. Blood. 2015 ;126(11):e19-29.
. Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies. Am J Hum Genet. 2019 ;104(2):260-274.
. Mendelian randomization evaluation of causal effects of fibrinogen on incident coronary heart disease. PLoS One. 2019 ;14(5):e0216222.
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Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors. Hum Mol Genet. 2022 ;31(18):3120-3132.
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