JAMES LUPSKI to Gene Dosage
This is a "connection" page, showing publications JAMES LUPSKI has written about Gene Dosage.
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0.502
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TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. Genet Med. 2019 07; 21(7):1548-1558.
Score: 0.148
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Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. PLoS Genet. 2015 Dec; 11(12):e1005686.
Score: 0.119
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Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. Am J Hum Genet. 2014 Mar 06; 94(3):462-9.
Score: 0.105
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Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. Am J Hum Genet. 2011 Oct 07; 89(4):580-8.
Score: 0.089
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Identification of the first recurrent PAR1 deletion in L?ri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. J Med Genet. 2012 Jul; 49(7):442-50.
Score: 0.023
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20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet. 2009 Mar; 46(3):168-75.
Score: 0.018