Published in N Engl J Med on December 02, 2010
Microtubules underlie dysfunction in duchenne muscular dystrophy. Sci Signal (2012) 1.54
The prevalence and cost of unapproved uses of top-selling orphan drugs. PLoS One (2012) 1.14
Reductions in Use of Colchicine after FDA Enforcement of Market Exclusivity in a Commercially Insured Population. J Gen Intern Med (2015) 0.91
Unintended effects of orphan product designation for rare neurological diseases. Ann Neurol (2012) 0.87
Incentives for drug development--the curious case of colchicine. N Engl J Med (2010) 3.06
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med (2013) 22.73
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med (2008) 9.13
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med (2011) 4.98
Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med (2012) 4.04
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med (2004) 3.32
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med (2012) 3.18
Keeping up with the next generation: massively parallel sequencing in clinical diagnostics. J Mol Diagn (2008) 2.24
Standards and guidelines for CFTR mutation testing. Genet Med (2002) 1.94
Mouse model for human arginase deficiency. Mol Cell Biol (2002) 1.88
College of American Pathologists' laboratory standards for next-generation sequencing clinical tests. Arch Pathol Lab Med (2014) 1.84
Arginases I and II: do their functions overlap? Mol Genet Metab (2004) 1.67
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology. J Mol Diagn (2012) 1.57
Genetic testing as part of the early hearing detection and intervention (EHDI) process. Genet Med (2004) 1.48
Stuck between a scalpel and a rock, or molecular pathology and legal-ethical issues in use of tissues for clinical care and research: what must a pathologist know? Am J Clin Pathol (2012) 1.47
Reliability and validity of the University of California, Los Angeles Scleroderma Clinical Trial Consortium Gastrointestinal Tract Instrument. Arthritis Rheum (2009) 1.37
Developing a sustainable process to provide quality control materials for genetic testing. Genet Med (2005) 1.23
Estimated analytic validity of HFE C282Y mutation testing in population screening: the potential value of confirmatory testing. Genet Med (2003) 1.21
Widespread expression of arginase I in mouse tissues. Biochemical and physiological implications. J Histochem Cytochem (2003) 1.18
Arginine metabolism by macrophages promotes cardiac and muscle fibrosis in mdx muscular dystrophy. PLoS One (2010) 1.16
Cystic fibrosis carrier screening: issues in implementation. Genet Med (2003) 1.14
Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and Ireland. Genet Test (2006) 1.12
Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia. Mol Genet Metab (2007) 1.11
An electrochemical detection scheme for identification of single nucleotide polymorphisms using hairpin-forming probes. Nucleic Acids Res (2002) 1.10
Short-term correction of arginase deficiency in a neonatal murine model with a helper-dependent adenoviral vector. Mol Ther (2009) 1.10
Ornithine deficiency in the arginase double knockout mouse. Mol Genet Metab (2006) 1.08
Testing and reporting ACMG cystic fibrosis mutation panel results. Genet Test (2007) 1.05
Contrasting features of urea cycle disorders in human patients and knockout mouse models. Mol Genet Metab (2007) 1.04
Alternative approaches to proficiency testing in molecular genetics. Clin Chem (2003) 1.02
Long-term survival of the juvenile lethal arginase-deficient mouse with AAV gene therapy. Mol Ther (2012) 1.02
Expression of the liver form of arginase in erythrocytes. Mol Genet Metab (2002) 0.98
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. BMC Med Genet (2014) 0.98
Personalized medicine and pharmacogenetic biomarkers: progress in molecular oncology testing. Expert Rev Mol Diagn (2012) 0.97
Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse. Mol Genet Metab (2013) 0.94
Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics. Arch Pathol Lab Med (2013) 0.94
Deaf adults' reasons for genetic testing depend on cultural affiliation: results from a prospective, longitudinal genetic counseling and testing study. J Deaf Stud Deaf Educ (2010) 0.93
Should we be applying warfarin pharmacogenetics to clinical practice? No, not now. Ann Intern Med (2009) 0.93
Diagnosis and management of familial Mediterranean fever: integrating medical genetics in a dedicated interdisciplinary clinic. Genet Med (2011) 0.92
Infant hearing loss and connexin testing in a diverse population. Genet Med (2008) 0.91
Expression of arginase II in prostate cancer. Int J Oncol (2008) 0.90
Cloning and characterization of human agmatinase. Mol Genet Metab (2002) 0.90
Ethnic differences in parental perceptions of genetic testing for deaf infants. J Genet Couns (2007) 0.89
Polyamine homeostasis in arginase knockout mice. Am J Physiol Cell Physiol (2007) 0.88
Prenatal screening for cystic fibrosis: past, present and future. Expert Rev Mol Diagn (2004) 0.86
The fate of newborn screening blood spots. Pediatr Res (2010) 0.85
A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants. Am J Med Genet A (2009) 0.85
Minimally important differences of the UCLA Scleroderma Clinical Trial Consortium Gastrointestinal Tract Instrument. J Rheumatol (2011) 0.84
Microelectronic array system for molecular diagnostic genotyping: Nanogen NanoChip 400 and molecular biology workstation. Expert Rev Mol Diagn (2006) 0.84
Clinical utility of pharmacogenetic biomarkers in cardiovascular therapeutics: a challenge for clinical implementation. Pharmacogenomics (2012) 0.83
Sharing GJB2/GJB6 genetic test information with family members. J Genet Couns (2007) 0.82
Disruption of arginase II alters prostate tumor formation in TRAMP mice. Prostate (2008) 0.81
Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing. J Mol Diagn (2009) 0.81
The clinical significance of circulating tumor cells in the peripheral blood. Diagn Mol Pathol (2006) 0.81
Bayesian analysis for cystic fibrosis risks in prenatal and carrier screening. Genet Med (2004) 0.80
Variable penetrance and expressivity of the splice altering 5T sequence in the cystic fibrosis gene. Genet Test (2007) 0.80
Discordant pursuit asymmetry and esotropia in monozygous twins. Am J Ophthalmol (2002) 0.78
Privacy and data management in the era of massively parallel next-generation sequencing. Expert Rev Mol Diagn (2011) 0.78
Arginase expression in mouse embryonic development. Mech Dev (2002) 0.78
A novel method for creating artificial mutant samples for performance evaluation and quality control in clinical molecular genetics. J Mol Diagn (2005) 0.78
Systemic mastocytosis associated with t(8;21)(q22;q22) acute myeloid leukemia. J Hematop (2009) 0.78
Cystic fibrosis mutation analysis: how many is enough? Genet Med (2004) 0.77
Cystic fibrosis mutations in Costa Rica. Hum Biol (2003) 0.77
An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency. Mol Genet Metab (2010) 0.75
Ordering genetic tests and interpreting the results. Adv Otorhinolaryngol (2011) 0.75
Risk calculations for cystic fibrosis in neonatal screening by immunoreactive trypsinogen and CFTR mutation tests. Genet Med (2005) 0.75
Prelingual siblings of children with GJB2 hearing loss: issues to consider. Arch Otolaryngol Head Neck Surg (2005) 0.75
Direct-to-consumer genotyping: are we ready for a brave new world? Clin Chem (2010) 0.75