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Author Details
Full Name
Bradley W Popovich
Affiliation
ORCID
Career Start Year
1982
Papers
29
H Index
21
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
26810587
Toward clinical genomics in everyday medicine: perspectives and recommendations.
Expert Rev Mol Diagn
2016
16735257
Naming and counting disorders (conditions) included in newborn screening panels.
Pediatrics
2006
16024978
Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories.
Genet Med
2005
15371902
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
Genet Med
2004
11968082
GeneTests-GeneClinics: genetic testing information for a growing audience.
Hum Mutat
2002
12394352
Standards and guidelines for CFTR mutation testing.
Genet Med
2002
12509709
Cystic fibrosis carrier screening: issues in implementation.
Genet Med
2002
11388762
Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee.
Genet Med
2001
11242801
Real-time polymerase chain reaction with fluorescent hybridization probes for the detection of prevalent mutations causing common thrombophilic and iron overload phenotypes.
Am J Clin Pathol
2001
11053973
A small 55-repeat MJD1 CAG allele in a patient with Machado-Joseph disease and abnormal eye movements.
Eur Neurol
2000
11252709
Fragile X full mutations are more similar in siblings than in unrelated patients: further evidence for a familial factor in CGG repeat dynamics.
Genet Med
2000
10521303
Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.
Am J Hum Genet
1999
10545610
Fully expanded FMR1 CGG repeats exhibit a length- and differentiation-dependent instability in cell hybrids that is independent of DNA methylation.
Hum Mol Genet
1999
8981959
Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.
Am J Hum Genet
1997
10464640
Methylation analysis of the fragile X syndrome by PCR.
Genet Test
1997
8651261
The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunction.
Am J Hum Genet
1996
7726157
An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene.
Am J Hum Genet
1995
8634720
A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1.
Hum Mol Genet
1995
8541863
Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.
Hum Mol Genet
1995
8533797
Monozygotic twins discordant for the Russell-Silver syndrome.
Am J Med Genet
1995
7987398
Length of uninterrupted CGG repeats determines instability in the FMR1 gene.
Nat Genet
1994
1415217
Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy.
Am J Hum Genet
1992
1889748
Problems encountered in detecting a targeted gene by the polymerase chain reaction.
Gene
1991
2034673
Correction of a human beta S-globin gene by gene targeting.
Proc Natl Acad Sci U S A
1991
3209408
Deletional beta-thalassemia with high Hb A2.
Hemoglobin
1988
3799598
Molecular characterization of an atypical beta-thalassemia caused by a large deletion in the 5' beta-globin gene region.
Am J Hum Genet
1986
6614003
Intracellular folate distribution in cultured fibroblasts from patients with the fragile X syndrome.
Am J Hum Genet
1983
6655666
Chromosomal breakage in normal and fragile X subjects using low folate culture conditions.
J Med Genet
1983
7078614
Fragile X.
N Engl J Med
1982
1 - 29 of 29
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row(s) 1 - 30 of 30
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University of California
Co-authored papers
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Co-authored papers
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Steven Tucker
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Brigham and Women's Hospital, Broad Institute Ariadne Labs and Harvard Medical School
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Thomas S Hays
University of Minnesota
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