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Author Details

Bradley W Popovich
1982
29
21
PMIDPaper TitleJournal TitlePublished Year
26810587Toward clinical genomics in everyday medicine: perspectives and recommendations.Expert Rev Mol Diagn2016
16735257Naming and counting disorders (conditions) included in newborn screening panels.Pediatrics2006
16024978Technical 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 Med2005
15371902Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.Genet Med2004
11968082GeneTests-GeneClinics: genetic testing information for a growing audience.Hum Mutat2002
12394352Standards and guidelines for CFTR mutation testing.Genet Med2002
12509709Cystic fibrosis carrier screening: issues in implementation.Genet Med2002
11388762Technical 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 Med2001
11242801Real-time polymerase chain reaction with fluorescent hybridization probes for the detection of prevalent mutations causing common thrombophilic and iron overload phenotypes.Am J Clin Pathol2001
11053973A small 55-repeat MJD1 CAG allele in a patient with Machado-Joseph disease and abnormal eye movements.Eur Neurol2000
11252709Fragile X full mutations are more similar in siblings than in unrelated patients: further evidence for a familial factor in CGG repeat dynamics.Genet Med2000
10521303Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.Am J Hum Genet1999
10545610Fully expanded FMR1 CGG repeats exhibit a length- and differentiation-dependent instability in cell hybrids that is independent of DNA methylation.Hum Mol Genet1999
8981959Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.Am J Hum Genet1997
10464640Methylation analysis of the fragile X syndrome by PCR.Genet Test1997
8651261The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunction.Am J Hum Genet1996
7726157An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene.Am J Hum Genet1995
8634720A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1.Hum Mol Genet1995
8541863Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.Hum Mol Genet1995
8533797Monozygotic twins discordant for the Russell-Silver syndrome.Am J Med Genet1995
7987398Length of uninterrupted CGG repeats determines instability in the FMR1 gene.Nat Genet1994
1415217Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy.Am J Hum Genet1992
1889748Problems encountered in detecting a targeted gene by the polymerase chain reaction.Gene1991
2034673Correction of a human beta S-globin gene by gene targeting.Proc Natl Acad Sci U S A1991
3209408Deletional beta-thalassemia with high Hb A2.Hemoglobin1988
3799598Molecular characterization of an atypical beta-thalassemia caused by a large deletion in the 5' beta-globin gene region.Am J Hum Genet1986
6614003Intracellular folate distribution in cultured fibroblasts from patients with the fragile X syndrome.Am J Hum Genet1983
6655666Chromosomal breakage in normal and fragile X subjects using low folate culture conditions.J Med Genet1983
7078614Fragile X.N Engl J Med1982
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Collaborators

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Co-authored papers 4
University of Florida, College of Medicine-Jacksonville
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Coriell Institute for Medical Research
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Stanford University
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k Mission Massimo Foundation
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Baylor College of Medicine
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University of California
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Brigham and Women's Hospital, Broad Institute Ariadne Labs and Harvard Medical School
Co-authored papers 1
University of Minnesota
Co-authored papers 1
Viome Research Institute
Co-authored papers 1
Coriell Institute for Medical Research
Co-authored papers 1
v Elwood Family Clinic
Co-authored papers 1
Harvard T. H. Chan School of Public Health
Co-authored papers 1
University of California at San Francisco 94143-0750.
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University of Washington School of Medicine
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Icahn School of Medicine at Mount Sinai
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