B. Popovich

发表

GeneTests‐GeneClinics: Genetic testing information for a growing audience

Patricia K. Baskin, T. Bird, P. Tarczy-Hornoch, 2002, Human mutation.

Toward clinical genomics in everyday medicine: perspectives and recommendations

D. Ledbetter, R. Green, R. Nussbaum, 2016, Expert review of molecular diagnostics.

Real-time polymerase chain reaction with fluorescent hybridization probes for the detection of prevalent mutations causing common thrombophilic and iron overload phenotypes.

B. Popovich, R. Press, S. Parks, 2001, American journal of clinical pathology.

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

W. Grody, M. Watson, C. Richards, 2005, Genetics in Medicine.

Erratum: Standards and guidelines for CFTR mutation testing (Genetics in Medicine (2002) 4 (379-391))

W. Grody, M. Watson, C. Richards, 2002 .

Cystic fibrosis carrier screening: Issues in implementation

W. Grody, M. Watson, C. Richards, 2002, Genetics in Medicine.

A Small 55-Repeat MJD1 CAG Allele in a Patient with Machado-Joseph Disease and Abnormal Eye Movements

R. Egan, R. Camicioli, B. Popovich, 2000, European Neurology.

Fragile X.

B. Popovich, M. Vekemans, D. Rosenblatt, 1982, The New England journal of medicine.

The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunction.

B. Popovich, S. Olson, R. Magenis, 1996, American journal of human genetics.

Monozygotic twins discordant for the Russell-Silver syndrome.

K. Jones, B. Popovich, W. Bailey, 1995, American journal of medical genetics.

Molecular characterization of an atypical beta-thalassemia caused by a large deletion in the 5' beta-globin gene region.

B. Popovich, D. Rosenblatt, A. Kendall, 1986, American journal of human genetics.

Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.

B. Popovich, M. Grompe, P. Jakobs, 1994, Human molecular genetics.

Chromosomal breakage in normal and fragile X subjects using low folate culture conditions.

B. Popovich, M. Vekemans, D. Rosenblatt, 1983, Journal of medical genetics.

Seasonal changes in organic carbon and C:N ratio in the major storage organs of Cepaea nemoralis (Mollusca: Pulmonata)

B. Popovich, R. Hunter, 1977 .

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

E. Eichler, A. Reiss, S. Thibodeau, 1994, Nature Genetics.

Molecular Characterization of an Atypical j0-Thalassemia Caused by a Large Deletion in the 5' P-Globin Gene Region

Kendall, B. Popovich, D. Rosenblatt, 2006 .

Deletional beta-thalassemia with high Hb A2.

B. Popovich, D. Rosenblatt, A. Kendall, 1988, Hemoglobin.

Problems encountered in detecting a targeted gene by the polymerase chain reaction.

H. S. Kim, B. Popovich, O. Smithies, 1991, Gene.

Intracellular folate distribution in cultured fibroblasts from patients with the fragile X syndrome.

B. Popovich, M. Vekemans, D. Rosenblatt, 1983, American journal of human genetics.

Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.

B. Popovich, S. Toth-Fejel, J. Wolford, 1997, American journal of human genetics.

Fully expanded FMR1 CGG repeats exhibit a length- and differentiation-dependent instability in cell hybrids that is independent of DNA methylation.

B. Popovich, M. Turker, R. Burman, 1999, Human molecular genetics.

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

Victoria M. Pratt, Michael S. Watson, Wayne W. Grody, 2004, Genetics in Medicine.

Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.

B. Popovich, M. Turker, P. Yates, 1999, American journal of human genetics.

Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy.

E. Hoffman, B. Popovich, W. Seltzer, 1992, American journal of human genetics.

Standards and Guidelines for CFTR Mutation Testing

W. Grody, M. Watson, C. Richards, 2002, Genetics in Medicine.

Correction of a human beta S-globin gene by gene targeting.

H. S. Kim, B. Popovich, W. Shehee, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Methylation analysis of the fragile X syndrome by PCR.

D. Ledbetter, B. Popovich, T. Arinami, 1997, Genetic testing.

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

M. Watson, C. Richards, B. Popovich, 2001, Genetics in medicine : official journal of the American College of Medical Genetics.

An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene.

B. Popovich, J. Zonana, R. Magenis, 1995, American journal of human genetics.

Naming and Counting Disorders (Conditions) Included in Newborn Screening Panels

W Harry Hannon, Michael S Watson, M. Watson, 2006, Pediatrics.

A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1.

B. Popovich, F. Quan, J. Janas, 1995, Human molecular genetics.

Duchenne muscular dystrophy

William M. Fowler, Craig M. McDonald, Richard T. Abresch, 1995 .