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Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet. 2012 ;44(8):922-7.
. Mapping the -regulatory architecture of the human retina reveals noncoding genetic variation in disease. Proc Natl Acad Sci U S A. 2020 ;117(16):9001-9012.
. Metagenomic analyses of alcohol induced pathogenic alterations in the intestinal microbiome and the effect of Lactobacillus rhamnosus GG treatment. PLoS One. 2013 ;8(1):e53028.
. Microarray analysis of somatostatin receptor 5-regulated gene expression profiles in murine pancreas. World J Surg. 2009 ;33(4):630-7.
. The molecular basis of the sparse fur mouse mutation. Science. 1987 ;237(4813):415-7.
. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet. 2014 ;94(6):915-23.
. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023 ;110(8):1394-1413.
. Mouse let-7 miRNA populations exhibit RNA editing that is constrained in the 5'-seed/ cleavage/anchor regions and stabilize predicted mmu-let-7a:mRNA duplexes. Genome Res. 2008 ;18(10):1571-81.
. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet. 2018 ;14(8):e1007504.
. Mutations in ASH1L confer susceptibility to Tourette syndrome. Mol Psychiatry. 2020 ;25(2):476-490.
. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet. 2012 ;90(2):282-9.
. Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. Nat Commun. 2015 ;6:5614.
. Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Hum Mol Genet. 2016 ;25(8):1479-88.
. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet. 2016 ;99(6):1305-1315.
. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet. 2009 ;84(3):380-7.
. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. Am J Hum Genet. 2017 ;100(4):592-604.
. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet. 2012 ;44(11):1249-54.
. 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.
. NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nat Commun. 2020 ;11(1):4625.
. Neuropeptide S receptor 1 is a nonhormonal treatment target in endometriosis. Sci Transl Med. 2021 ;13(608).
. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Hum Mol Genet. 2021 ;29(21):3516-3531.
. NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Exp Eye Res. 2018 ;173:32-43.
. Notch activation as a driver of osteogenic sarcoma. Cancer Cell. 2014 ;26(3):390-401.
. Novel Anaplastic Thyroid Cancer PDXs and Cell Lines: Expanding Preclinical Models of Genetic Diversity. J Clin Endocrinol Metab. 2021 ;106(11):e4652-e4665.
. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. J Exp Med. 2019 ;216(12):2778-2799.
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