Published in Anal Chem on November 18, 2010
Physiologically Based Pharmacokinetic Modeling of Tamoxifen and its Metabolites in Women of Different CYP2D6 Phenotypes Provides New Insight into the Tamoxifen Mass Balance. Front Pharmacol (2012) 0.87
The active tamoxifen metabolite endoxifen (4OHNDtam) strongly down-regulates cytokeratin 6 (CK6) in MCF-7 breast cancer cells. PLoS One (2015) 0.78
Importance of highly selective LC-MS/MS analysis for the accurate quantification of tamoxifen and its metabolites: focus on endoxifen and 4-hydroxytamoxifen. Breast Cancer Res Treat (2012) 0.78
Limited predictive value of achieving beneficial plasma (Z)-endoxifen threshold level by CYP2D6 genotyping in tamoxifen-treated Polish women with breast cancer. BMC Cancer (2015) 0.77
A pharmacogenetic versus a clinical algorithm for warfarin dosing. N Engl J Med (2013) 7.09
Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy. J Clin Invest (2002) 4.75
Prevalence of joint symptoms in postmenopausal women taking aromatase inhibitors for early-stage breast cancer. J Clin Oncol (2007) 3.92
Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia. Blood (2008) 3.89
High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet (2006) 3.78
Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. Blood (2007) 3.73
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med (2006) 3.38
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med (2004) 3.32
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. Lancet (2013) 3.21
Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med (2005) 2.95
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int (2003) 2.94
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol (2007) 2.73
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet (2004) 2.60
PolyScan: an automatic indel and SNP detection approach to the analysis of human resequencing data. Genome Res (2007) 2.58
Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma. Cancer Res (2008) 2.48
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet (2007) 2.35
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum Mutat (2010) 2.29
Mutational analysis of EGFR and related signaling pathway genes in lung adenocarcinomas identifies a novel somatic kinase domain mutation in FGFR4. PLoS One (2007) 2.25
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant (2009) 2.17
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int (2002) 2.15
Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations. Am J Hum Genet (2008) 1.99
Overexpression of uncoupling protein 3 in skeletal muscle protects against fat-induced insulin resistance. J Clin Invest (2007) 1.91
Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups. Pharmacogenomics (2010) 1.82
Conducting Molecular Epidemiological Research in the Age of HIPAA: A Multi-Institutional Case-Control Study of Breast Cancer in African-American and European-American Women. J Oncol (2009) 1.81
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat (2009) 1.78
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. Am J Hum Genet (2002) 1.74
Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol (2013) 1.60
Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias. Arch Neurol (2004) 1.58
Identification of somatic JAK1 mutations in patients with acute myeloid leukemia. Blood (2007) 1.55
AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice. Mol Ther (2004) 1.55
Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis. PLoS One (2009) 1.53
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. PLoS Genet (2012) 1.52
Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population. Genet Med (2004) 1.52
Correction of the biochemical and functional deficits in fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A. Mol Ther (2006) 1.46
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma. Mol Genet Metab (2003) 1.44
Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele. Hum Mutat (2003) 1.42
Effect of weight loss on insulin sensitivity and intramuscular long-chain fatty acyl-CoAs in morbidly obese subjects. Diabetes (2002) 1.40
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med (2003) 1.38
CYP2C9*8 is prevalent among African-Americans: implications for pharmacogenetic dosing. Pharmacogenomics (2009) 1.37
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum Genomics (2006) 1.35
The porphyrias: advances in diagnosis and treatment. Blood (2012) 1.34
Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am J Hum Genet (2002) 1.32
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. J Pediatr (2006) 1.30
Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization. Genet Med (2010) 1.27
Analytical validation of whole exome and whole genome sequencing for clinical applications. BMC Med Genomics (2014) 1.27
The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics (2004) 1.25
Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes. Arch Intern Med (2010) 1.25
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics (2008) 1.23
Lipid abnormalities in children with types A and B Niemann Pick disease. J Pediatr (2004) 1.22
Differential effects of rosiglitazone on skeletal muscle and liver insulin resistance in A-ZIP/F-1 fatless mice. Diabetes (2003) 1.19
Pilot study of acupuncture for the treatment of joint symptoms related to adjuvant aromatase inhibitor therapy in postmenopausal breast cancer patients. J Cancer Surviv (2007) 1.19
The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Mol Ther (2009) 1.18
Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. Am J Hum Genet (2004) 1.17
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome. Am J Hum Genet (2010) 1.15
Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome. J Pediatr Hematol Oncol (2006) 1.15
Diagnosing mucopolysaccharidosis IVA. J Inherit Metab Dis (2013) 1.14
Cystic fibrosis carrier screening: issues in implementation. Genet Med (2003) 1.14
Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke (2009) 1.12
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. Mol Genet Metab (2009) 1.11
Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study. BMC Med Genet (2011) 1.10
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. Hum Mutat (2005) 1.10
Amniotic fluid cells are more efficiently reprogrammed to pluripotency than adult cells. Cell Reprogram (2010) 1.08
Identification of mammaglobin as a novel serum marker for breast cancer. Clin Cancer Res (2005) 1.07
Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. Hepatology (2013) 1.06
Phenylbutyrate therapy for maple syrup urine disease. Hum Mol Genet (2010) 1.05
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype. Mol Genet Metab (2002) 1.04
Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease. PLoS One (2010) 1.04
Efficient adenovirus transduction of 3T3-L1 adipocytes stably expressing coxsackie-adenovirus receptor. Biochem Biophys Res Commun (2003) 1.01
Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene. Genet Med (2006) 1.01
Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome. Arch Neurol (2006) 1.01
Morbidity and mortality in type B Niemann-Pick disease. Genet Med (2013) 1.00
Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. Hum Mutat (2007) 1.00
Epimerase-deficiency galactosemia is not a binary condition. Am J Hum Genet (2005) 1.00
Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. Radiology (2005) 1.00
Blood phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods. Genet Med (2007) 1.00
Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews. Am J Med Genet (2002) 0.98
Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. Hum Mol Genet (2009) 0.98
Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients. Mol Genet Metab (2010) 0.98
Racial disparities in treatment and survival of male breast cancer. J Clin Oncol (2007) 0.98
Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. Am J Hum Genet (2002) 0.98
Correction of the nonlinear dose response improves the viability of adenoviral vectors for gene therapy of Fabry disease. Hum Gene Ther (2002) 0.98
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. Am J Med Genet A (2010) 0.97
AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease. Mol Ther (2005) 0.97
Ocular manifestations of Niemann-Pick disease type B. Ophthalmology (2004) 0.96
CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish population. Pharmacogenomics (2007) 0.95
Integrating molecular biology into clinical practice. J Clin Oncol (2013) 0.95
The effect of dystocia and previous cesarean uterine scar on the tensile properties of the lower uterine segment. Am J Obstet Gynecol (2006) 0.94
Profile of panobinostat and its potential for treatment in solid tumors: an update. Onco Targets Ther (2013) 0.92
Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes. Mol Med (2002) 0.91
Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification. J Med Genet (2011) 0.90
Cystic fibrosis carrier screening: validation of a novel method using BeadChip technology. Genet Med (2004) 0.89
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. Hum Mol Genet (2012) 0.89
Human uroporphyrinogen III synthase: NMR-based mapping of the active site. Proteins (2008) 0.88
AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function. Mol Ther (2009) 0.88
Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide. Mol Genet Metab (2011) 0.87
Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases. J Lipid Res (2002) 0.86
Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. Mol Med (2010) 0.86