Narasimhan Nagan

Medical Genetics

3400 Computer Dr
Genzyme Genetics Molecular Diagnostics Laboratory
Westborough, MA 01581

Last Updated: 09/26/2026

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Found 11 publications

Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level.

Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level.

Journal: medRxiv : the preprint server for health sciences

Published: November 28, 2024

Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level.

Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level.

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

Published: November 13, 2024

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.

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

Published: April 24, 2023

Clinical characterization of the mutational landscape of 24,639 real-world samples from patients with myeloid malignancies.

Clinical characterization of the mutational landscape of 24,639 real-world samples from patients with myeloid malignancies.

Journal: Cancer genetics

Published: March 15, 2023

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

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

Published: December 09, 2018

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.

Journal: Human mutation

Published: May 02, 2018

Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.

Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.

Journal: Hereditary cancer in clinical practice

Published: August 14, 2017

BRCA Share: A Collection of Clinical BRCA Gene Variants.

BRCA Share: A Collection of Clinical BRCA Gene Variants.

Journal: Human mutation

Published: July 07, 2016

Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches.

Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches.

Journal: Current protocols in human genetics

Published: January 03, 2016

Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing.

Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing.

Journal: Clinical chemistry

Published: December 22, 2015

Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification.

Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification.

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

Published: September 09, 2015

Showing 1-11 of 11

Last Updated: 09/26/2026