Paul G. Rothberg

Medical Genetics

601 Elmwood Ave
University Of Rochester Medical Center
Rochester, NY 14642

Last Updated: 09/26/2026

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Found 27 publications

Common clonal origin of three distinct hematopoietic neoplasms in a single patient: B-cell lymphoma, T-cell lymphoma, and polycythemia vera.

Common clonal origin of three distinct hematopoietic neoplasms in a single patient: B-cell lymphoma, T-cell lymphoma, and polycythemia vera.

Journal: Cold Spring Harbor molecular case studies

Published: September 12, 2023

Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).

Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 05, 2022

Clonal cytopenia of undetermined significance (CCUS)-associated reversion of donor-derived, transient αβ T-cell large granular clonal lymphocytosis, emerging post-transplant in a patient with a history of γδ T-cell large granular lymphocytic leukemia.

Clonal cytopenia of undetermined significance (CCUS)-associated reversion of donor-derived, transient αβ T-cell large granular clonal lymphocytosis, emerging post-transplant in a patient with a history of γδ T-cell large granular lymphocytic leukemia.

Journal: Cold Spring Harbor molecular case studies

Published: August 12, 2022

Next-Generation Sequencing-Based Antigen-Receptor Gene Clonality Assays: Will They Become the Clinical Standard?

Next-Generation Sequencing-Based Antigen-Receptor Gene Clonality Assays: Will They Become the Clinical Standard?

Journal: The Journal of molecular diagnostics : JMD

Published: July 06, 2021

A Case of Acute Eosinophilic Leukemia with a Novel PHF6 Mutation.

A Case of Acute Eosinophilic Leukemia with a Novel PHF6 Mutation.

Journal: Case reports in hematology

Published: January 27, 2021

Proficiency Testing of Standardized Samples Shows High Interlaboratory Agreement for Clinical Next Generation Sequencing-Based Hematologic Malignancy Assays With Survey Material-Specific Differences in Variant Frequencies.

Proficiency Testing of Standardized Samples Shows High Interlaboratory Agreement for Clinical Next Generation Sequencing-Based Hematologic Malignancy Assays With Survey Material-Specific Differences in Variant Frequencies.

Journal: Archives of pathology & laboratory medicine

Published: January 28, 2020

Performance Comparison of Different Analytic Methods in Proficiency Testing for Mutations in the BRAF, EGFR, and KRAS Genes: A Study of the College of American Pathologists Molecular Oncology Committee.

Performance Comparison of Different Analytic Methods in Proficiency Testing for Mutations in the BRAF, EGFR, and KRAS Genes: A Study of the College of American Pathologists Molecular Oncology Committee.

Journal: Archives of pathology & laboratory medicine

Published: April 11, 2019

Incidental splenic findings in pancreatosplenectomy specimens resected for primary pancreatic lesions.

Incidental splenic findings in pancreatosplenectomy specimens resected for primary pancreatic lesions.

Journal: Histopathology

Published: April 02, 2019

Comparison of Laboratory-Developed Tests and FDA-Approved Assays for BRAF, EGFR, and KRAS Testing.

Comparison of Laboratory-Developed Tests and FDA-Approved Assays for BRAF, EGFR, and KRAS Testing.

Journal: JAMA oncology

Published: December 16, 2017

Is Tubulocystic Renal Cell Carcinoma Real?: Genomic Analysis Confirms the World Health Organization Classification.

Is Tubulocystic Renal Cell Carcinoma Real?: Genomic Analysis Confirms the World Health Organization Classification.

Journal: The Journal of molecular diagnostics : JMD

Published: October 23, 2017

Ibrutinib therapy for lymphoplasmacytic lymphoma.

Ibrutinib therapy for lymphoplasmacytic lymphoma.

Journal: American journal of hematology

Published: April 07, 2017

p53 alteration in morphologically normal/benign breast luminal cells in BRCA carriers with or without history of breast cancer.

p53 alteration in morphologically normal/benign breast luminal cells in BRCA carriers with or without history of breast cancer.

Journal: Human pathology

Published: January 20, 2017

Showing 1-12 of 27

Last Updated: 09/26/2026