1. Bain type of X‐linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2. Issue 1 (31st October 2019) Authors: Somashekar, Puneeth H.; Narayanan, Dhanya L.; Jagadeesh, Sujatha; Suresh, Beena; Vaishnavi, Reddy D.; Bielas, Stephanie; Girisha, Katta M.; Shukla, Anju Journal: American journal of medical genetics Issue: Volume 182:Issue 1(2020) Page Start: 183 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bi‐allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. Issue 4 (28th January 2021) Authors: Somashekar, Puneeth H.; Kaur, Parneet; Stephen, Joshi; Guleria, Vishal Singh; Kadavigere, Rajagopal; Girisha, Katta Mohan; Bielas, Stephanie; Upadhyai, Priyanka; Shukla, Anju Journal: Clinical genetics Issue: Volume 99:Issue 4(2021) Page Start: 594 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities. Issue 5 (30th July 2021) Authors: Kaur, Parneet; do Rosario, Michelle C; Hebbar, Malavika; Sharma, Suvasini; Kausthubham, Neethukrishna; Nair, Karthik; A, Shrikiran; Bhat Y, Ramesh; Lewis, Leslie Edward S; Nampoothiri, Sheela; Patil, Siddaramappa J; Suresh, Narayanaswami; Bijarnia Mahay, Sunita; Dua Puri, Ratna; Pai, Shivanand; K... Journal: Clinical genetics Issue: Volume 100:Issue 5(2021) Page Start: 542 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. (November 2018) Authors: Srivastava, Anshika; Srivastava, Kinshuk; Hebbar, Malavika; Galada, Chelna; Kadavigrere, Rajagopal; Su, Fengyun; Cao, Xuhong; Chinnaiyan, Arul; Girisha, Katta; Shukla, Anju; Bielas, Stephanie Journal: European journal of human genetics Issue: Volume 26:Number 11(2018) Page Start: 1582 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C. Issue 9 (8th June 2016) Authors: Hebbar, Malavika; Prasada L, Harsha; Bhowmik, Aneek Das; Trujillano, Daniel; Shukla, Anju; Chakraborti, Shrijeet; Kandaswamy, Krishna Kumar; Rolfs, Arndt; Kamath, Nutan; Dalal, Ashwin; Bielas, Stephanie; Girisha, Katta Mohan Journal: American journal of medical genetics Issue: Volume 170:Issue 9(2016) Page Start: 2486 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination. Issue 4 (19th April 2022) Authors: do Rosario, Michelle C.; Kaur, Parneet; Girisha, Katta Mohan; Bielas, Stephanie; Shukla, Anju Journal: Clinical dysmorphology Issue: Volume 31:Issue 4(2022) Page Start: 196 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature. (20th February 2018) Authors: Galada, Chelna; Hebbar, Malavika; Lewis, Leslie; Soans, Santosh; Kadavigere, Rajagopal; Srivastava, Anshika; Bielas, Stephanie; Girisha, Katta M.; Shukla, Anju Journal: Congenital anomalies Issue: Volume 58:Number 5(2018) Page Start: 181 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗