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The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. Science (2010) 9.61

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A novel technique for stenting pulmonary artery and conduit bifurcation stenosis. Catheter Cardiovasc Interv (2011) 1.15

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Gene sequencing in neonates and infants with the long QT syndrome. Genet Test (2005) 0.97

Staphylococcus epidermidis in the human skin microbiome mediates fermentation to inhibit the growth of Propionibacterium acnes: implications of probiotics in acne vulgaris. Appl Microbiol Biotechnol (2013) 0.96

Technical validation of a TM Biosciences Luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel. J Mol Diagn (2006) 0.95

Consumptive hypothyroidism resulting from hepatic vascular tumors in an athyreotic adult. J Clin Endocrinol Metab (2011) 0.95

Fluorescence in situ hybridization and K-ras analyses improve diagnostic yield of endoscopic ultrasound-guided fine-needle aspiration of solid pancreatic masses. Pancreas (2011) 0.95

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A large deletion in the CFTR gene in CBAVD. Genet Med (2006) 0.93

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Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent. J Mol Diagn (2009) 0.89

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Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent. Genet Med (2005) 0.87

Development of genomic reference materials for Huntington disease genetic testing. Genet Med (2007) 0.86

Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet (2004) 0.85

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Molecular characterization of the TCP11 gene which is the human homologue of the mouse gene encoding the receptor of fertilization promoting peptide. Mol Hum Reprod (2002) 0.83

Direct visualization of cystic fibrosis transmembrane regulator mutations in the clinical laboratory setting. Clin Chem (2004) 0.83

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Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens. Hum Reprod (2002) 0.82

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Development of a web-based query tool for quality assurance of clinical molecular genetic test results. J Mol Diagn (2007) 0.82

Chromosomal anomalies among the offspring of women with gestational diabetes. Am J Epidemiol (2002) 0.82

A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations. Eur J Med Genet (2007) 0.82

Controlled loading of building blocks into temporary self-assembled scaffolds for directed assembly of organic nanostructures. Langmuir (2008) 0.82

Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing. J Mol Diagn (2009) 0.81

Abnormal distribution and hyperplasia of thyroid C-cells in PTEN-associated tumor syndromes. Endocr Pathol (2004) 0.81

Correlation of abnormal rapid FISH and chromosome results from amniocytes for prenatal diagnosis. Fetal Diagn Ther (2006) 0.81

Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene. J Mol Diagn (2007) 0.80

Preimplantation diagnosis for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Reprod Biomed Online (2001) 0.80

Stratifying risk for celiac disease in a large at-risk United States population by using HLA alleles. Clin Gastroenterol Hepatol (2009) 0.80

Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. Pediatrics (2010) 0.80

Identification of HRAS mutations and absence of GNAQ or GNA11 mutations in deep penetrating nevi. Mod Pathol (2013) 0.80

Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns (2013) 0.79

Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication. Genet Test Mol Biomarkers (2010) 0.79

A de novo complex chromosome rearrangement involving chromosomes 2, 3, 5, 9 and 11 detected prenatally and studied postnatally by conventional cytogenetics and molecular cytogenetic analyses. Fetal Diagn Ther (2007) 0.79

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"Host tissue damage" signal ATP impairs IL-12 and IFNgamma secretion in LPS stimulated whole human blood. Intensive Care Med (2008) 0.77

Paternal mosaic inv(20) resulting in a recombinant chromosome 20 in two siblings. Pediatr Int (2010) 0.77

Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning. Am J Med Genet A (2010) 0.76

Multiple property tolerance analysis for the evaluation of missense mutations. Evol Bioinform Online (2007) 0.76

Hypoxic spinal cord injury and/or abnormality in utero. Pediatr Neurol (2007) 0.75

Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population. J Mol Diagn (2006) 0.75

A 14-year follow-up of a case detected prenatally of partial trisomy 13q21.32-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving chromosomes 6, 13, and 18. Genet Test Mol Biomarkers (2009) 0.75

Impact of Viral Respiratory Pathogens on Outcomes After Pediatric Cardiac Surgery. Pediatr Crit Care Med (2017) 0.75

Genetic counseling, the ophthalmologist and the law. Metab Ophthalmol (1977) 0.75