PubRank

Henrik Simonsen

Author PubWeight™ 15.61‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome. Am J Cardiol 2005 2.20
2 Newborn screening for lysosomal storage disorders. Mol Genet Metab 2006 1.27
3 Measurement of CO3-610, a potential liver biomarker derived from matrix metalloproteinase-9 degradation of collagen type iii, in a rat model of reversible carbon-tetrachloride-induced fibrosis. Biomark Insights 2011 1.09
4 Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy. Pediatrics 2004 0.98
5 Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening. Mol Genet Metab 2012 0.96
6 Measurement of matrix metalloproteinase 9-mediated collagen type III degradation fragment as a marker of skin fibrosis. BMC Dermatol 2011 0.94
7 Human FSH beta subunit gene is highly conserved. Mol Hum Reprod 2005 0.93
8 MCAD deficiency in Denmark. Mol Genet Metab 2012 0.91
9 Immunological detection of the type V collagen propeptide fragment, PVCP-1230, in connective tissue remodeling associated with liver fibrosis. Biomarkers 2011 0.89
10 Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res 2006 0.88
11 Expression of short-chain acyl-CoA dehydrogenase (SCAD) proteins in the liver of SCAD deficient mice after hydrodynamic gene transfer. Mol Genet Metab 2003 0.80
12 Functional study of a recombinant form of human LHbeta-subunit variant carrying the Gly(102)Ser mutation found in Asian populations. Mol Hum Reprod 2002 0.80
13 Absence of the genetic variant Val79Met in human chorionic gonadotropin-beta gene 5 in five European populations. Mol Hum Reprod 2004 0.78
14 [Carnitine transporter deficiency in two Faeroese children]. Ugeskr Laeger 2004 0.78
15 High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene. J Inherit Metab Dis 2010 0.77
16 DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency. Prenat Diagn 2005 0.77