JAMES LUPSKI to Sequence Alignment
This is a "connection" page, showing publications JAMES LUPSKI has written about Sequence Alignment.
Connection Strength
0.680
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Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation. Hum Mutat. 2016 Feb; 37(2):160-4.
Score: 0.108
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NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation. Genet Med. 2012 Mar; 14(3):313-22.
Score: 0.082
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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15; 20(10):1975-88.
Score: 0.077
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Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. J Med Genet. 2009 Sep; 46(9):626-34.
Score: 0.066
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Evolution of ABCA4 proteins in vertebrates. J Mol Evol. 2005 Jan; 60(1):72-80.
Score: 0.051
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Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. Genome Res. 2002 May; 12(5):729-38.
Score: 0.042
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Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet. 2001 Feb; 68(2):325-33.
Score: 0.038
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NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nat Commun. 2020 09 15; 11(1):4625.
Score: 0.038
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Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet. 2000 Feb 12; 9(3):367-74.
Score: 0.036
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Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179. Genomics. 1998 May 01; 49(3):394-400.
Score: 0.032
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De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 Dec 03; 97(6):904-13.
Score: 0.027
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Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet. 2015 Mar; 23(3):342-6.
Score: 0.024
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Conservation and evolution of the rpsU-dnaG-rpoD macromolecular synthesis operon in bacteria. Mol Microbiol. 1993 Apr; 8(2):343-55.
Score: 0.022
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The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 Apr 17; 452(7189):872-6.
Score: 0.016
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Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet. 2003 Mar; 72(3):650-8.
Score: 0.011
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Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus. Genome Res. 2001 Feb; 11(2):208-17.
Score: 0.010