JAMES LUPSKI to Kidney
This is a "connection" page, showing publications JAMES LUPSKI has written about Kidney.
Connection Strength
0.225
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Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet. 2000 Sep; 26(1):67-70.
Score: 0.109
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Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract. Kidney Int. 2022 05; 101(5):1039-1053.
Score: 0.030
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Identification of novel genes expressed during metanephric induction through single-cell library screening. Kidney Int. 2000 Jun; 57(6):2221-8.
Score: 0.027
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Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome. Kidney Int. 2020 10; 98(4):1020-1030.
Score: 0.027
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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: 0.017
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Generation of the Sotos syndrome deletion in mice. Mamm Genome. 2012 Dec; 23(11-12):749-57.
Score: 0.016