Publications by authors named "Swaroop Aradhya"

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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.
Mia J Gruzin, Swaroop Aradhya, Leslie Burnett

Genet Med· December 2025

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A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screening.
Mia J Gruzin, Matthew Hobbs, Sarah Poll, Swaroop Aradhya, Leslie Burnett

Data Brief· August 2025

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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.
Somak Roy, Martine W Tremblay, Edward Lockhart, Swaroop Aradhya, Pinar Bayrak-Toydemir

J Mol Diagn· August 2025

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Optimizing gene panels for equitable reproductive carrier screening: The Goldilocks approach.
Mia J Gruzin, Matthew Hobbs, Rachel E Ellsworth, Sarah Poll, Sienna Aguilar, Swaroop Aradhya

Genet Med· June 2025

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Analysis of Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene Regions.
Matteo Vatta, Ellen Regalado, Michael Parfenov, Dan Swartzlander, Andrea Nagl, Swaroop Aradhya

Circ Genom Precis Med· April 2025

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Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories.
Kathryn E Hatchell, Sarah R Poll, Emily M Russell, Trevor J Williams, Rachel E Ellsworth, Swaroop Aradhya

Am J Hum Genet· March 2025

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Derivative and non-derivative aneuploidy rates in PGT tested blastocysts from carriers of structural rearrangements.
Lauren Walters-Sen, Dana Neitzel, Rachel E Ellsworth, Sarah Poll, Nicole Faulkner, Swaroop Aradhya

Reprod Biomed Online· March 2025

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Clinical Variant Reclassification in Hereditary Disease Genetic Testing.
Yuya Kobayashi, Elaine Chen, Flavia M Facio, Hillery Metz, Sarah R Poll, Swaroop Aradhya

JAMA Netw Open· November 2024

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Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.
Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu, Abigail Hunt

Am J Med Genet A· September 2024

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Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy.
Jennifer Roggenbuck, Ana Morales, Colin A Ellis, Laynie Dratch, Molly Stetler, Swaroop Aradhya

J Peripher Nerv Syst· September 2024

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Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Samskruthi Reddy Padigepati, David A Stafford, Christopher A Tan, Melanie R Silvis, Kirsty Jamieson, Swaroop Aradhya

Hum Genet· August 2024

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Early genetic testing in pediatric epilepsy: Diagnostic and cost implications.
Shanna M Swartwood, Ana Morales, Kathryn E Hatchell, Chad Moretz, Dianalee McKnight, Swaroop Aradhya

Epilepsia Open· February 2024

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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, Pinar Bayrak-Toydemir, Hunter Best

Genet Med· December 2023

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High-Throughput Splicing Assays Identify Known and Novel Exon 9 Variants in Nephrotic Syndrome.
Cathy Smith, Bala Bharathi Burugula, Ian Dunn, Swaroop Aradhya, Jacob O Kitzman

Kidney Int Rep· October 2023

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Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.
Elaine Chen, Flavia M Facio, Kerry W Aradhya, Susan Rojahn, Kathryn E Hatchell, Swaroop Aradhya

JAMA Netw Open· October 2023

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Applications of artificial intelligence in clinical laboratory genomics.
Swaroop Aradhya, Flavia M Facio, Hillery Metz, Toby Manders, Alexandre Colavin

Am J Med Genet C Semin Med Genet· September 2023

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Response to Spurdle et al.
Erin R Riggs, Erica F Andersen, Sibel Kantarci, Hutton Kearney, Ankita Patel, Swaroop Aradhya

Genet Med· August 2023

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Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
Rebecca Truty, Susan Rojahn, Karen Ouyang, Curtis Kautzer, Michael Kennemer, Swaroop Aradhya

Am J Hum Genet· April 2023

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Scalable detection of technically challenging variants through modified next-generation sequencing.
Susan Rojahn, Tina Hambuch, Jessika Adrian, Erik Gafni, Alex Gileta, Swaroop Aradhya

Mol Genet Genomic Med· December 2022

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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
Dianalee McKnight, Ana Morales, Kathryn E Hatchell, Sara L Bristow, Joshua L Bonkowsky, Swaroop Aradhya

JAMA Neurol· December 2022

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Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance.
Britt Johnson, Karen Ouyang, Lauren Frank, Rebecca Truty, Susan Rojahn, Swaroop Aradhya

Am J Med Genet A· September 2022

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A cross-disorder dosage sensitivity map of the human genome.
Ryan L Collins, Joseph T Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Swaroop Aradhya

Cell· August 2022

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The genomic basis of sporadic and recurrent pregnancy loss: a comprehensive in-depth analysis of 24,900 miscarriages.
Jenna Finley, Sara Hay, Jeannine Oldzej, Matthew M Meredith, Natasa Dzidic, Swaroop Aradhya

Reprod Biomed Online· July 2022

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Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Jessica Quinn, Vicki Modell, Britt Johnson, Sarah Poll, Swaroop Aradhya

Front Immunol· June 2022

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The KIDNEYCODE Program: Diagnostic Yield and Clinical Features of Individuals with CKD.
Kenneth V Lieberman, Alexander R Chang, Geoffrey A Block, Kristina Robinson, Sara L Bristow, Swaroop Aradhya

Kidney360· May 2022

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