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James T. Mascarello | Researchclopedia

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James T. Mascarello

Centro Universitário Fundação Assis Gurgacz

74

Works

2,166

Citations

23

h-index

42

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics Chromosomal and Genetic Variations

Affiliations

University of North Carolina at Chapel Hill1995–1995

Texas Tech University1970–1974

Lawrence Livermore National Laboratory1977–1977

Boston Children's Hospital1983–1993

New Mexico Department of Health2003–2003

Top Works

Deletions and microdeletions of 22q11.2 in velo‐cardio‐facial syndrome

Deborah A. Driscoll,Nancy B. Spinner,et al.

1992387 citations

Genomics and Rare Diseases

Genetic Mapping and Diversity in Plants and Animals

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.

David H. Ledbetter,James T. Mascarello,et al.

1982243 citations

Endosialin Protein Expression and Therapeutic Target Potential in Human Solid Tumors: Sarcoma versus Carcinoma

Cécile Rouleau,Maritza Curiel,et al.

2008116 citations

Monodactylous Limbs and Abnormal Genitalia Are Associated with Hemizygosity for the Human 2q31 Region That Includes the HOXD Cluster

Miguel Del Campo,Marilyn C. Jones,et al.

1999101 citations

Second report of a translocation involving 19q13.4 in a mesenchymal hamartoma of the liver

James T. Mascarello,Henry F. Krous

199296 citations

Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization

James T. Mascarello,Betsy Hirsch,et al.

201188 citations

Microarray analysis for constitutional cytogenetic abnormalities

Lisa G. Shaffer,Arthur L. Beaudet,et al.

200783 citations

Clinical laboratory assays for HER-2/neu amplification and overexpression: Quality assurance, standardization, and proficiency testing

Raymond B. Nagle,Raymund R. Tubbs,et al.

200278 citations

Cytogenetic Heteromorphisms: Survey Results and Reporting Practices of Giemsa-Band Regions That We Have Pondered for Years

Arthur R. Brothman,Nancy R. Schneider,et al.

200668 citations