DONNA MUZNY to Mice
This is a "connection" page, showing publications DONNA MUZNY has written about Mice.
Connection Strength
0.274
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Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. PLoS Genet. 2023 Nov; 19(11):e1011005.
Score: 0.016
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Initial sequencing and comparative analysis of the mouse genome. Nature. 2002 Dec 05; 420(6915):520-62.
Score: 0.015
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COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 09 02; 108(9):1710-1724.
Score: 0.013
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PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia. Nat Commun. 2020 11 19; 11(1):5903.
Score: 0.013
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Sequence analysis in Bos taurus reveals pervasiveness of X-Y arms races in mammalian lineages. Genome Res. 2020 12; 30(12):1716-1726.
Score: 0.013
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A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. J Exp Med. 2019 12 02; 216(12):2778-2799.
Score: 0.012
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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438.
Score: 0.011
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The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. Hum Mol Genet. 2018 06 15; 27(12):2064-2075.
Score: 0.011
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A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A. 2018 04; 176(4):1015-1022.
Score: 0.010
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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017 Apr; 49(4):613-617.
Score: 0.010
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Biallelic mutations in IRF8 impair human NK cell maturation and function. J Clin Invest. 2017 01 03; 127(1):306-320.
Score: 0.010
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Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med. 2016 11 01; 8(1):105.
Score: 0.010
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Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 06; 99(4):886-893.
Score: 0.010
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Novel patient-derived xenograft and cell line models for therapeutic testing of pediatric liver cancer. J Hepatol. 2016 08; 65(2):325-33.
Score: 0.009
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Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. Am J Hum Genet. 2015 Nov 05; 97(5):647-60.
Score: 0.009
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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet. 2014 Jun 05; 94(6):915-23.
Score: 0.008
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Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 Apr 24; 157(3):636-50.
Score: 0.008
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Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May 01; 94(5):745-54.
Score: 0.008
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Combined sequence-based and genetic mapping analysis of complex traits in outbred rats. Nat Genet. 2013 Jul; 45(7):767-75.
Score: 0.008
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Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature. 2012 Nov 15; 491(7424):399-405.
Score: 0.007
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Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nat Med. 2012 Sep; 18(9):1423-8.
Score: 0.007
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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 Mar; 43(3):189-96.
Score: 0.006
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The completion of the Mammalian Gene Collection (MGC). Genome Res. 2009 Dec; 19(12):2324-33.
Score: 0.006
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Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1. J Exp Med. 2008 Nov 24; 205(12):2711-6.
Score: 0.006
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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 Oct; 18(10):1571-81.
Score: 0.005
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Large scale variation in Enterococcus faecalis illustrated by the genome analysis of strain OG1RF. Genome Biol. 2008; 9(7):R110.
Score: 0.005
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The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct; 14(10B):2121-7.
Score: 0.004
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Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature. 2004 04 01; 428(6982):493-521.
Score: 0.004
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Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26):16899-903.
Score: 0.004
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Analysis of the quality and utility of random shotgun sequencing at low redundancies. Genome Res. 1998 Oct; 8(10):1074-84.
Score: 0.003
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Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6. Genome Res. 1998 Jan; 8(1):29-40.
Score: 0.003
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Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains. Genome Res. 1997 Apr; 7(4):315-29.
Score: 0.002
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Characterization of a murine gene expressed from the inactive X chromosome. Nature. 1991 May 23; 351(6324):325-9.
Score: 0.002
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Characterization of recombinant helper retroviruses from Moloney-based vectors in ecotropic and amphotropic packaging cell lines. Virology. 1991 Feb; 180(2):849-52.
Score: 0.002
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The Chinese hamster HPRT gene: restriction map, sequence analysis, and multiplex PCR deletion screen. Genomics. 1991 Feb; 9(2):247-56.
Score: 0.002
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Urate oxidase: primary structure and evolutionary implications. Proc Natl Acad Sci U S A. 1989 Dec; 86(23):9412-6.
Score: 0.001
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Expression of the murine Duchenne muscular dystrophy gene in muscle and brain. Science. 1988 Mar 18; 239(4846):1416-8.
Score: 0.001
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Generation of cDNA probes directed by amino acid sequence: cloning of urate oxidase. Science. 1988 Mar 11; 239(4845):1288-91.
Score: 0.001