Published in J Pediatr on July 19, 2013
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Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. Am J Hum Genet (2009) 1.15
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Patients' preoperative expectations predict the outcome of rotator cuff repair. J Bone Joint Surg Am (2007) 1.14
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Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. Am J Hum Genet (2012) 1.14
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum Mutat (2008) 1.13
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. Am J Hum Genet (2011) 1.13
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Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. Am J Hum Genet (2009) 1.09
Screening β-arrestin recruitment for the identification of natural ligands for orphan G-protein-coupled receptors. J Biomol Screen (2013) 1.08
Glucocorticoid resistance in two key models of acute lymphoblastic leukemia occurs at the level of the glucocorticoid receptor. FASEB J (2006) 1.08