1. Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India. Issue 2 (27th April 2022) Authors: Varshney, Kruti; Narayanachar, Sanjeeva Ghanti; Girisha, Katta M; Bhavani, Gandham SriLakshmi; Narayanan, Dhanyalakshmi; Phadke, Shubha; Nampoothiri, Sheela; Udupi, Gautham Arunachal; Raghupathy, Palany; Nair, Mohandas; Geetha, Thenral S; Bhat, Meenakshi Journal: Journal of medical genetics Issue: Volume 60:Issue 2(2023) Page Start: 204 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients. Issue 1 (15th August 2020) Authors: Nampoothiri, Sheela; Yesodharan, Dhanya; Bhattacherjee, Amrita; Ahamed, Hisham; Puri, Ratna Dua; Gupta, Neerja; Kabra, Madhulika; Ranganath, Prajnya; Bhat, Meenakshi; Phadke, Shubha; Radha Rama Devi, Akella; Jagadeesh, Sujatha; Danda, Sumita; Sylaja, Padmavathy Narayana; Mandal, Kausik; Bijarnia‐... Journal: JIMD reports Issue: Volume 56:Issue 1(2020) Page Start: 82 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families. Issue 4 (October 2015) Authors: Dwarakanathan, Abhilash; Bhat, Meenakshi; GN, Sanjeeva; Shetty, Swathi Journal: Clinical dysmorphology Issue: Volume 24:Issue 4(2015:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families. Issue 4 (October 2015) Authors: Dwarakanathan, Abhilash; Bhat, Meenakshi; GN, Sanjeeva; Shetty, Swathi Journal: Clinical dysmorphology Issue: Volume 24:Issue 4(2015:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Novel and recurrent mutations in WISP3 and an atypical phenotype. (18th May 2015) Authors: Bhavani, Gandham SriLakshmi; Shah, Hitesh; Dalal, Ashwin B.; Shukla, Anju; Danda, Sumita; Aggarwal, Shagun; Phadke, Shubha R.; Gupta, Neerja; Kabra, Madhulika; Gowrishankar, Kalpana; Gupta, Anju; Bhat, Meenakshi; Puri, Ratna D.; Bijarnia‐Mahay, Sunita; Nampoothiri, Sheela; Mohanasundaram, Kavitha... Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2481 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Novel and recurrent mutations in WISP3 and an atypical phenotype. (18th May 2015) Authors: Bhavani, Gandham SriLakshmi; Shah, Hitesh; Dalal, Ashwin B.; Shukla, Anju; Danda, Sumita; Aggarwal, Shagun; Phadke, Shubha R.; Gupta, Neerja; Kabra, Madhulika; Gowrishankar, Kalpana; Gupta, Anju; Bhat, Meenakshi; Puri, Ratna D.; Bijarnia‐Mahay, Sunita; Nampoothiri, Sheela; Mohanasundaram, Kavitha... Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2481 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Papillon–Lefèvre Syndrome with Homozygous Nonsense Mutation of Cathepsin C Gene Presenting with Late‐Onset Periodontitis. Issue 2 (3rd June 2014) Authors: Ragunatha, Shivanna; Ramesh, Mudalagirigowda; Anupama, Panagar; Kapoor, Meenakshi; Bhat, Meenakshi Journal: Pediatric dermatology Issue: Volume 32:Issue 2(2015) Page Start: 292 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Spectrum of mutations in the SMPD1 gene in Asian Indian patients with acid sphingomyelinase deficient Niemann–Pick disease. Issue 3 (9th February 2017) Authors: Ranganath, Prajnya; Matta, Divya; Bhavani, Gandham SriLakshmi; Wangnekar, Savita; Jain, Jamal Mohammed Nurul; Verma, Ishwar C.; Kabra, Madhulika; Puri, Ratna D.; Danda, Sumita; Gupta, Neerja; Girisha, Katta M.; Sankar, Vaikom H.; Patil, Siddaramappa J.; Devi, Akella Radha Rama; Bhat, Meenakshi; G... Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 829 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Spectrum of SMPD1 mutations in Asian‐Indian patients with acid sphingomyelinase (ASM)‐deficient Niemann–Pick disease. Issue 10 (24th June 2016) Authors: Ranganath, Prajnya; Matta, Divya; Bhavani, Gandham SriLakshmi; Wangnekar, Savita; Jain, Jamal Mohammed Nurul; Verma, Ishwar C.; Kabra, Madhulika; Puri, Ratna Dua; Danda, Sumita; Gupta, Neerja; Girisha, Katta M.; Sankar, Vaikom H.; Patil, Siddaramappa J.; Ramadevi, Akella Radha; Bhat, Meenakshi; G... Other Names: Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor. Journal: American journal of medical genetics Issue: Volume 170:Issue 10(2016) Page Start: 2719 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Telegenetics: The experience of an Indian center (Centre for Human Genetics) during the COVID‐19 pandemic. Issue 5 (1st October 2021) Authors: Rao, Nivedita; Kanago, Dhanashree; Morris, Monisha; Narayan, Vinu; Varshney, Kruti; GN, Sanjeeva; Bhat, Meenakshi Journal: Journal of genetic counseling Issue: Volume 30:Issue 5(2021) Page Start: 1224 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗