Swaroop Aradhya

Medical Genetics

3375 Hillview Ave
Molecular Genetics Laboratory
Palo Alto, CA 94304

Last Updated: 09/26/2026

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Found 72 publications

Ensuring equity in reproductive carrier screening of CFTR with increasing population diversity.

Ensuring equity in reproductive carrier screening of CFTR with increasing population diversity.

Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society

Published: December 22, 2025

Genetic findings and health care utilization among individuals undergoing population genomic screening for actionable hereditary disorders.

Genetic findings and health care utilization among individuals undergoing population genomic screening for actionable hereditary disorders.

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

Published: July 10, 2025

Correspondence on "Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries" by Hotakainen et al.

Correspondence on "Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries" by Hotakainen et al.

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

Published: April 04, 2025

From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.

From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.

Journal: The Journal of molecular diagnostics : JMD

Published: March 05, 2025

A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screening.

A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screening.

Journal: Data in brief

Published: February 20, 2025

Analysis of TTN Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene Regions.

Analysis of TTN Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene Regions.

Journal: Circulation. Genomic and precision medicine

Published: February 19, 2025

Clinical Variant Reclassification in Hereditary Disease Genetic Testing.

Clinical Variant Reclassification in Hereditary Disease Genetic Testing.

Journal: JAMA network open

Published: November 06, 2024

Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories.

Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories.

Journal: American journal of human genetics

Published: October 04, 2024

Optimizing gene panels for equitable reproductive carrier screening: The Goldilocks approach.

Optimizing gene panels for equitable reproductive carrier screening: The Goldilocks approach.

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

Published: August 27, 2024

Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy.

Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy.

Journal: Journal of the peripheral nervous system : JPNS

Published: June 26, 2024

Derivative and non-derivative aneuploidy rates in PGT tested blastocysts from carriers of structural rearrangements.

Derivative and non-derivative aneuploidy rates in PGT tested blastocysts from carriers of structural rearrangements.

Journal: Reproductive biomedicine online

Published: May 03, 2024

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Journal: Human genetics

Published: April 22, 2024

Showing 1-12 of 72

Last Updated: 09/26/2026