1. A novel variant in GABRB2 associated with intellectual disability and epilepsy. Issue 11 (13th August 2014) Authors: Srivastava, Siddharth; Cohen, Julie; Pevsner, Jonathan; Aradhya, Swaroop; McKnight, Dianalee; Butler, Elizabeth; Johnston, Michael; Fatemi, Ali Journal: American journal of medical genetics Issue: Volume 164:Issue 11(2014.) Page Start: 2914 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African‐American brothers. Issue 8 (4th July 2013) Authors: Balikcioglu, Pinar Gumus; Gómez, Ricardo; Vargas, Alfonso; Aradhya, Swaroop; Messiaen, Ludwine M.; Lacassie, Yves Journal: American journal of medical genetics Issue: Volume 161:Issue 8(2013:Aug.) Page Start: 2105 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical utility of multigene analysis in over 25, 000 patients with neuromuscular disorders. (April 2020) Authors: Winder, Thomas L.; Tan, Christopher A.; Klemm, Sarah; White, Hannah; Westbrook, Jody M.; Wang, James Z.; Entezam, Ali; Truty, Rebecca; Nussbaum, Robert L.; McNally, Elizabeth M.; Aradhya, Swaroop Journal: Neurology Issue: Volume 6:Number 2(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Democratizing genomics: Leveraging software to make genetics an integral part of routine care. Issue 1 (9th December 2020) Authors: Snir, Moran; Nazareth, Shivani; Simmons, Emilie; Hayward, Laura; Ashcraft, Kristine; Bristow, Sara L.; Esplin, Edward D.; Aradhya, Swaroop Other Names: Solomon Benjamin D. guestEditor. Journal: American journal of medical genetics Issue: Volume 187:Issue 1(2021) Page Start: 14 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR. Issue 9 (10th July 2021) Authors: Nykamp, Keith; Truty, Rebecca; Riethmaier, Darlene; Wilkinson, Julia; Bristow, Sara L.; Aguilar, Sienna; Neitzel, Dana; Faulkner, Nicole; Aradhya, Swaroop Journal: Human mutation Issue: Volume 42:Issue 9(2021) Page Start: 1165 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Experience analysing over 190, 000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay. Issue 2 (February 2022) Authors: Walters-Sen, Lauren; Neitzel, Dana; Bristow, Sara L.; Mitchell, Asia; Alouf, Charlene A.; Aradhya, Swaroop; Faulkner, Nicole Journal: Reproductive biomedicine online Issue: Volume 44:Issue 2(2022) Page Start: 228 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genetics in mainstream medicine: Finally within grasp to influence healthcare globally. Issue 4 (28th May 2018) Authors: Aradhya, Swaroop; Nussbaum, Robert L. Journal: Molecular genetics & genomic medicine Issue: Volume 6:Issue 4(2018) Page Start: 473 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Molecular Diagnoses of X‐Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program. (10th November 2021) Authors: Rush, Eric T.; Johnson, Britt; Aradhya, Swaroop; Beltran, Daniel; Bristow, Sara L.; Eisenbeis, Scott; Guerra, Norma E.; Krolczyk, Stan; Miller, Nicole; Morales, Ana; Ramesan, Prameela; Sarafrazi, Soodabeh; Truty, Rebecca; Dahir, Kathryn Journal: Journal of bone and mineral research Issue: Volume 37:Number 2(2022) Page Start: 202 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings. (16th February 2022) Authors: McKnight, Dianalee; Bristow, Sara L.; Truty, Rebecca M.; Morales, Ana; Stetler, Molly; Westbrook, M. Jody; Robinson, Kristina; Riethmaier, Darlene; Borlot, Felippe; Kellogg, Marissa; Hwang, Sean T.; Berg, Anne; Aradhya, Swaroop Journal: Neurology Issue: Volume 8:Number 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings. (16th February 2022) Authors: McKnight, Dianalee; Bristow, Sara L.; Truty, Rebecca M.; Morales, Ana; Stetler, Molly; Westbrook, M. Jody; Robinson, Kristina; Riethmaier, Darlene; Borlot, Felippe; Kellogg, Marissa; Hwang, Sean T.; Berg, Anne; Aradhya, Swaroop Journal: Neurology Issue: Volume 8:Number 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗