1. Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion. Issue 1 (29th April 2019) Authors: Chakravorty, Samya; Berger, Kiera; Arafat, Dalia; Nallamilli, Babi Ramesh Reddy; Subramanian, Hari Prasanna; Joseph, Soumya; Anderson, Mary E.; Campbell, Kevin P.; Glass, Jonathan; Gibson, Greg; Hegde, Madhuri Journal: Muscle & nerve Issue: Volume 60:Issue 1(2019) Page Start: 98 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical Utility of Transcriptome Sequencing: Toward a Better Diagnosis for Mendelian Disorders. (1st June 2018) Authors: Chakravorty, Samya; Hegde, Madhuri Journal: Clinical chemistry Issue: Volume 64:Number 6(2018) Page Start: 882 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Flightin maintains myofilament lattice organization required for optimal flight power and courtship song quality in Drosophila. Issue 1854 (3rd May 2017) Authors: Chakravorty, Samya; Tanner, Bertrand C. W.; Foelber, Veronica Lee; Vu, Hien; Rosenthal, Matthew; Ruiz, Teresa; Vigoreaux, Jim O. Journal: Proceedings Issue: Volume 284:Issue 1854(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients. Issue 12 (1st December 2018) Authors: Nallamilli, Babi Ramesh Reddy; Chakravorty, Samya; Kesari, Akanchha; Tanner, Alice; Ankala, Arunkanth; Schneider, Thomas; da Silva, Cristina; Beadling, Randall; Alexander, John J.; Askree, Syed Hussain; Whitt, Zachary; Bean, Lora; Collins, Christin; Khadilkar, Satish; Gaitonde, Pradnya; Dastur, R... Journal: Annals of clinical and translational neurology Issue: Volume 5:Issue 12(2018) Page Start: 1574 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Inferring the effect of genomic variation in the new era of genomics. Issue 6 (22nd April 2018) Authors: Chakravorty, Samya; Hegde, Madhuri Journal: Human mutation Issue: Volume 39:Issue 6(2018) Page Start: 756 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy. Issue 12 (15th October 2020) Authors: Nallamilli, Babi Ramesh Reddy; Chakravorty, Samya; Kesari, Akanchha; Bean, Lora; Hegde, Madhuri Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 12(2020) Page Start: 2541 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗