(top 60%)
Impact Factor
(top 60%)
extended IF
43(top 9%)
H-Index
384
authors
689
papers
10.7K
citations
2.1K
citing journals
7.2K
citing authors

Most Cited Articles of Genetic Testing and Molecular Biomarkers

TitleYearCitations
Geography of HFE C282Y and H63D mutations2000217
Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology2000150
Racial and ethnic variations in knowledge and attitudes about genetic testing2004132
The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients1997124
Gaucher disease: gene frequencies and genotype/phenotype correlations1997115
Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations2008107
Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system1997106
Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing200584
Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders199782
Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method200477
Universal newborn screening for Hb H disease in California200176
Neural tube defect prevalence in California (1990-1994): eliciting patterns by type of defect and maternal race/ethnicity199967
Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients200363
Genetic testing for women previously diagnosed with breast/ovarian cancer: examining the impact of BRCA1 and BRCA2 mutation searching200260
Uncommon mutations and polymorphisms in the hemochromatosis gene200060
Public attitudes toward genetic testing: perceived benefits and objections200659
Cystic fibrosis in Jews: frequency and mutation distribution199758
Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in whites and blacks in the Hemochromatosis and Iron Overload Screening Study200557
Clinical interpretation and recommendations for patients with a variant of uncertain significance in BRCA1 or BRCA2: a survey of genetic counseling practice200257
Evaluating online direct-to-consumer marketing of genetic tests: informed choices or buyers beware?200856
The influence of experiential knowledge on prenatal screening and testing decisions200855
Predictive testing for hereditary nonpolyposis colorectal cancer: subjective perception regarding colorectal and endometrial cancer, distress, and health-related behavior at one year post-test200555
Pre-counseling education materials for BRCA testing: does tailoring make a difference?200255
Characterization of common BRCA1 and BRCA2 variants200255
The BsmI vitamin D receptor gene polymorphism is associated with ulcerative colitis in Jewish Ashkenazi patients200453