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Differences in SMN1 allele frequencies among ethnic groups within North America. J Med Genet (2009) 1.38

Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy. Sci Transl Med (2009) 1.30

Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa. Ann Neurol (2014) 0.82

Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project. BMC Med Genet (2015) 0.80

Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophy. Hum Mol Genet (2016) 0.78

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Antioxidant and oncogene rescue of metabolic defects caused by loss of matrix attachment. Nature (2009) 5.32

AAV-mediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B. Blood (2002) 4.60

Effects of patents and licenses on the provision of clinical genetic testing services. J Mol Diagn (2003) 3.94

Ex vivo expansion of polyclonal and antigen-specific cytotoxic T lymphocytes by artificial APCs expressing ligands for the T-cell receptor, CD28 and 4-1BB. Nat Biotechnol (2002) 3.43

Induction of autophagy during extracellular matrix detachment promotes cell survival. Mol Biol Cell (2007) 3.37

Oncogenic kinase NPM/ALK induces through STAT3 expression of immunosuppressive protein CD274 (PD-L1, B7-H1). Proc Natl Acad Sci U S A (2008) 2.99

Vav family GEFs link activated Ephs to endocytosis and axon guidance. Neuron (2005) 2.72

Inhibition of PI3K/mTOR leads to adaptive resistance in matrix-attached cancer cells. Cancer Cell (2012) 2.71

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Requirements for Vav guanine nucleotide exchange factors and Rho GTPases in FcgammaR- and complement-mediated phagocytosis. Immunity (2006) 2.57

Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy. Arch Neurol (2002) 2.05

Occult macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis. J Rheumatol (2007) 1.93

College of American Pathologists' laboratory standards for next-generation sequencing clinical tests. Arch Pathol Lab Med (2014) 1.84

Repeated TLR9 stimulation results in macrophage activation syndrome-like disease in mice. J Clin Invest (2011) 1.75

Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet (2002) 1.68

Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology. J Mol Diagn (2012) 1.57

Quantification of PCR bias caused by a single nucleotide polymorphism in SMN gene dosage analysis. J Mol Diagn (2002) 1.54

Near infrared muscle spectroscopy in patients with Friedreich's ataxia. Muscle Nerve (2002) 1.53

Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn (2007) 1.50

Alpha-synuclein-induced aggregation of cytoplasmic vesicles in Saccharomyces cerevisiae. Mol Biol Cell (2008) 1.48

The practice of science at its best. Fertil Steril (2003) 1.38

Association of susceptibility alleles in ELAC2/HPC2, RNASEL/HPC1, and MSR1 with prostate cancer severity in European American and African American men. Cancer Epidemiol Biomarkers Prev (2005) 1.37

Breaking a vicious cycle. Sci Transl Med (2013) 1.36

Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design. Mov Disord (2010) 1.29

New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations. Eur J Hum Genet (2004) 1.28

Spinal muscular atrophy: molecular genetics and diagnostics. Expert Rev Mol Diagn (2004) 1.27

Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. Hum Mutat (2009) 1.20

Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet (2002) 1.15

Multiplex RT-PCR for the detection of leukemia-associated translocations: validation and application to routine molecular diagnostic practice. J Mol Diagn (2003) 1.10

Genotype and haplotype distributions of MTHFR677C>T and 1298A>C single nucleotide polymorphisms: a meta-analysis. J Hum Genet (2003) 1.07

Use of rituximab in conjunction with immunosuppressive chemotherapy as a novel therapy for Epstein Barr virus-associated hemophagocytic lymphohistiocytosis. J Pediatr Hematol Oncol (2007) 1.05

Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments. Mol Genet Metab (2007) 1.04

Spinal muscular atrophy genetic testing experience at an academic medical center. J Mol Diagn (2002) 1.03

DIAPH3 governs the cellular transition to the amoeboid tumour phenotype. EMBO Mol Med (2012) 1.01

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Interferon-γ mediates anemia but is dispensable for fulminant toll-like receptor 9-induced macrophage activation syndrome and hemophagocytosis in mice. Arthritis Rheum (2013) 0.97

Changes in food reward following smoking cessation: a pharmacogenetic investigation. Psychopharmacology (Berl) (2004) 0.97

Antioxidant use in Friedreich ataxia. J Neurol Sci (2007) 0.95

A0001 in Friedreich ataxia: biochemical characterization and effects in a clinical trial. Mov Disord (2012) 0.94

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Inadvertent germline transmission of AAV2 vector: findings in a rabbit model correlate with those in a human clinical trial. Mol Ther (2006) 0.94

Lack of TNFalpha expression protects anaplastic lymphoma kinase-positive T-cell lymphoma (ALK+ TCL) cells from apoptosis. Proc Natl Acad Sci U S A (2009) 0.88

Increased IRP1 activity in Friedreich ataxia. Gene (2005) 0.88

Central nervous system juvenile xanthogranuloma with malignant transformation. Pediatr Blood Cancer (2008) 0.88

Health related quality of life measures in Friedreich Ataxia. J Neurol Sci (2008) 0.87

Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology. J Mol Diagn (2010) 0.87

Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia. Mov Disord (2008) 0.86

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Detection of clonal IGH gene rearrangements: summary of molecular oncology surveys of the College of American Pathologists. Arch Pathol Lab Med (2007) 0.85

Urinary isoprostanes in Friedreich ataxia: lack of correlation with disease features. Mov Disord (2008) 0.84

Bayesian analysis and risk assessment in genetic counseling and testing. J Mol Diagn (2004) 0.83

A random shRNA-encoding library for phenotypic selection and hit-optimization. PLoS One (2008) 0.82

The Cancer Genomics Resource List 2014. Arch Pathol Lab Med (2014) 0.82

Severe combined immunodeficiency resulting from mutations in MTHFD1. Pediatrics (2013) 0.82

Avoiding pitfalls in bone marrow engraftment analysis: a case study highlighting the weakness of using buccal cells for determining a patient's constitutional genotype after hematopoietic stem cell transplantation. Cytotherapy (2012) 0.82

Importance of standard nomenclature for SMN1 small intragenic ("subtle") mutations. Hum Mutat (2004) 0.82

Bayesian risk assessment in genetic testing for autosomal dominant disorders with age-dependent penetrance. J Genet Couns (2007) 0.81

Successful haploidentical bone marrow transplantation in a patient with reticular dysgenesis: three-year follow-up. J Allergy Clin Immunol (2007) 0.81

Durable molecular remissions with a single cycle of timed sequential consolidation chemotherapy in acute promyelocytic leukemia. Am J Hematol (2005) 0.81

Primary and secondary drug screening assays for Friedreich ataxia. J Biomol Screen (2011) 0.80

Unanswered questions in Friedreich ataxia. J Child Neurol (2012) 0.80

Bayesian analysis for cystic fibrosis risks in prenatal and carrier screening. Genet Med (2004) 0.80

Dehydrated hereditary stomatocytosis masquerading as MDS. Blood (2015) 0.79

SMN dosage analysis and risk assessment for spinal muscular atrophy. Am J Hum Genet (2002) 0.78

Picture of the month: anaplastic large cell lymphoma with hemophagocytic lymphohistiocytosis. Arch Pediatr Adolesc Med (2006) 0.78

FDA oversight of laboratory-developed tests: is it necessary, and how would it impact clinical laboratories? Clin Chem (2013) 0.78

Mortality in Friedreich's Ataxia. Tex Heart Inst J (2007) 0.77

Prenatal diagnosis of spinal muscular atrophy: Indian scenario. Prenat Diagn (2005) 0.77

A case of ischemic colitis associated with factor V Leiden mutation: successful treatment with anticoagulation. Gastrointest Endosc (2007) 0.76

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Industry opposes genomic legislation. Nat Biotechnol (2002) 0.75

SMN1 dosage analysis in spinal muscular atrophy from India. BMC Med Genet (2005) 0.75

Comment on SMN2 deletion in childhood-onset spinal muscular atrophy. Am J Med Genet (2002) 0.75

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Risk calculations for cystic fibrosis in neonatal screening by immunoreactive trypsinogen and CFTR mutation tests. Genet Med (2005) 0.75

Relapsed nodular sclerosis Hodgkin lymphoma and therapy-related myeloid sarcoma in a mediastinal mass. Blood (2014) 0.75

Helicobacter pylori eradication: a novel therapeutic option in chronic immune thrombocytopenic purpura. Med J Aust (2008) 0.75

The Pathologist Workforce in the United States: II. An Interactive Modeling Tool for Analyzing Future Qualitative and Quantitative Staffing Demands for Services. Arch Pathol Lab Med (2015) 0.75

Burkitt lymphoma involving the clivus. J Pediatr Hematol Oncol (2008) 0.75

CLL/SLL diagnosed in an adolescent. Pediatr Blood Cancer (2013) 0.75

Donor T-cell-mediated pancytopenia after haploidentical hematopoietic stem cell transplant for severe combined immunodeficiency. J Pediatr Hematol Oncol (2009) 0.75

Transferrin receptor hyperexpression in primary erythroblasts is lost on transformation by avian erythroblastosis virus. Blood (2002) 0.75

2003 International Friedreich's Ataxia Research Conference, 14-16 February 2003, Bethesda, MD, USA. Neuromuscul Disord (2004) 0.75