1. Additional three patients with Smith‐McCort dysplasia due to novel RAB33B mutations. Issue 3 (27th January 2017) Authors: Salian, Smrithi; Cho, Tae‐Joon; Phadke, Shubha R.; Gowrishankar, Kalpana; Bhavani, Gandham SriLakshmi; Shukla, Anju; Jagadeesh, Sujatha; Kim, Ok‐Hwa; Nishimura, Gen; Girisha, Katta M. Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 588 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cover Image, Volume 173A, Number 3, March 2017. Issue 3 (17th February 2017) Authors: Salian, Smrithi; Cho, Tae‐Joon; Phadke, Shubha R.; Gowrishankar, Kalpana; Bhavani, Gandham SriLakshmi; Shukla, Anju; Jagadeesh, Sujatha; Kim, Ok‐Hwa; Nishimura, Gen; Girisha, Katta M. Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cover Image, Volume 173A, Number 3, March 2017. Issue 3 (March 2017) Authors: Salian, Smrithi; Cho, Tae‐Joon; Phadke, Shubha R.; Gowrishankar, Kalpana; Bhavani, Gandham SriLakshmi; Shukla, Anju; Jagadeesh, Sujatha; Kim, Ok‐Hwa; Nishimura, Gen; Girisha, Katta M. Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins. Issue 5 (29th July 2021) Authors: Salian, Smrithi; Scala, Marcello; Nguyen, Thi Tuyet Mai; Severino, Mariasavina; Accogli, Andrea; Amadori, Elisabetta; Torella, Annalaura; Pinelli, Michele; Hudson, Beth; Boothe, Megan; Hurst, Anna; Ben‐Omran, Tawfeg; Larsen, Martin J.; Fagerberg, Christina R.; Sperling, Lene; Miceikaite, Ieva; He... Journal: Clinical genetics Issue: Volume 100:Issue 5(2021) Page Start: 607 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1. (21st December 2021) Authors: Castle, Alison M.R.; Salian, Smrithi; Bassan, Haim; Sofrin-Drucker, Efrat; Cusmai, Raffaella; Herman, Kristin C.; Heron, Delphine; Keren, Boris; Johnstone, Devon L.; Mears, Wendy; Morlot, Susanne; Nguyen, Thi Tuyet Mai; Rock, Rachel; Stolerman, Elliot; Russo, Julia; Burns, William Boyce; Jones, J... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1. (December 2021) Authors: Castle, Alison M.R.; Salian, Smrithi; Bassan, Haim; Sofrin-Drucker, Efrat; Cusmai, Raffaella; Herman, Kristin C.; Heron, Delphine; Keren, Boris; Johnstone, Devon L.; Mears, Wendy; Morlot, Susanne; Nguyen, Thi Tuyet Mai; Rock, Rachel; Stolerman, Elliot; Russo, Julia; Burns, William Boyce; Jones, J... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Familial 7q11.23 duplication with variable phenotype. (24th June 2015) Authors: Patil, Siddaramappa J.; Salian, Smrithi; Bhat, Venkaraman; Girisha, Katta Mohan; Shrivastava, Yash; VS, Kiran; Sapare, Anilkumar Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2727 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype. (16th May 2018) Authors: Salian, Smrithi; Nampoothiri, Sheela; Shukla, Anju; Girisha, Katta M. Journal: Congenital anomalies Issue: Volume 59:Number 1(2019) Page Start: 26 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia. Issue 10 (25th July 2022) Authors: Reid, Kimberley M.; Spaull, Robert; Salian, Smrithi; Barwick, Katy; Meyer, Esther; Zhen, Juan; Hirata, Hiromi; Sheipouri, Diba; Benkerroum, Hind; Gorman, Kathleen M.; Papandreou, Apostolos; Simpson, Michael A.; Hirano, Yoshinobu; Farabella, Irene; Topf, Maya; Grozeva, Detelina; Carss, Keren; Smit... Journal: Movement disorders Issue: Volume 37:Issue 10(2022) Page Start: 2139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1. (May 2017) Authors: Nayak, Shalini S.; Salian, Smrithi; Shukla, Anju; Mathew, Mary; Girisha, Katta M. Journal: Congenital anomalies Issue: Volume 57:Number 3(2017) Page Start: 83 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗