11. Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India. Issue 11 (9th September 2020) Authors: Narang, Ankita; Uppilli, Bharathram; Vivekanand, Asokachandran; Naushin, Salwa; Yadav, Arti; Singhal, Khushboo; Shamim, Uzma; Sharma, Pooja; Zahra, Sana; Mathur, Aradhana; Seth, Malika; Parveen, Shaista; Vats, Archana; Hillman, Sara; Dolma, Padma; Varma, Binuja; Jain, Vandana; Prasher, Bhavana; S... Journal: Human mutation Issue: Volume 41:Issue 11(2020) Page Start: 1833 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. Genetic alterations related to BRAF‐FGFR genes and dysregulated MAPK/ERK/mTOR signaling in adult pilocytic astrocytoma. (6th January 2017) Authors: Pathak, Pankaj; Kumar, Anupam; Jha, Prerana; Purkait, Suvendu; Faruq, Mohammed; Suri, Ashish; Suri, Vaishali; Sharma, Mehar C.; Sarkar, Chitra Journal: Brain pathology Issue: Volume 27:Number 5(2017) Page Start: 580 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool. Issue 2 (10th March 2022) Authors: Sharma, Pooja; Sonakar, Akhilesh Kumar; Tyagi, Nishu; Suroliya, Varun; Kumar, Manish; Kutum, Rintu; Asokchandran, Vivekananda; Ambawat, Sakshi; Shamim, Uzma; Anand, Avni; Ahmad, Ishtaq; Shakya, Sunil; Uppili, Bharathram; Mathur, Aradhana; Parveen, Shaista; Jain, Shweta; Singh, Jyotsna; Seth, Mali... Journal: Advanced genetics Issue: Volume 3:Issue 2(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the SAMD12 gene. Issue 1 (19th December 2020) Authors: Mahadevan, Radha; Bhoyar, Rahul C; Viswanathan, Natarajan; Rajagopal, Raskin Erusan; Essaki, Bobby; Suroliya, Varun; Chelladurai, Rachel; Sankaralingam, Saravanan; Shanmugam, Ganesan; Vayanakkan, Sriramakrishnan; Shamim, Uzma; Mathur, Aradhana; Jain, Abhinav; Imran, Mohamed; Faruq, Mohammed; Scar... Journal: Brain communications Issue: Volume 3:Issue 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Impact of SARS‐CoV‐2 Infection in Spinocerebellar Ataxia 12 Patients. Issue 11 (7th October 2021) Authors: Singh, Inder; Swarup, Vishnu; Shakya, Sunil; Kumar, Vikash; Gupta, Deepika; Rajan, Roopa; Radhakrishnan, Divya M.; Faruq, Mohammed; Srivastava, Achal Kumar Journal: Movement disorders Issue: Volume 36:Issue 11(2021) Page Start: 2459 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. Infantile Onset Spinocerebellar Ataxia 2 (SCA2): A Clinical Report With Review of Previous Cases. (January 2014) Authors: Singh, Ankur; Faruq, Mohammed; Mukerji, Mitali; Dwivedi, Manish Kumar; Pruthi, Sumit; Kapoor, Seema Journal: Journal of child neurology Issue: Volume 29:Number 1(2014:Jan.) Page Start: 139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. Intrafamilial variable spastic paraplegia/ataxia/ALS phenotype linked to a novel KIF5A mutation. Issue 3 (8th July 2019) Authors: Faruq, Mohammed; Kumar, Deepak; Wadhwa, Saruchi; Shamim, Uzma; Mathur, Aradhana; Parveen, Shaista; Garg, Ajay; Srivastava, Achal K. Journal: Clinical genetics Issue: Volume 96:Issue 3(2019) Page Start: 271 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. Iron related hemochromatosis (HFE) gene mutations in Friedreich Ataxia patients. (January 2017) Authors: Singh, Inder; Shakya, Sunil; Singh, Rakesh Kumar; Ahmad, Istaq; Goyal, Vinay; Shukla, Garima; Srivastava, Madakasira Vasantha Padma; Faruq, Mohammed; Srivastava, Achal Kumar Journal: Parkinsonism & related disorders Issue: Volume 34(2017) Page Start: 71 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation. (November 2022) Authors: Sood, Anubhuti; Shamim, Uzma; Kharbanda, Om P.; Kabra, Madhulika; Gupta, Neerja; Mathur, Aradhana; Joshi, Aditi; Parveen, Shaista; Zahra, Sana; Sharma, Pooja; Seth, Malika; Khan, Afreen; Faruq, Mohammed; Mishra, Deepika Journal: Cleft palate-craniofacial journal Issue: Volume 59:Number 11(2022) Page Start: 1329 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. Pharmacogenetic landscape of DPYD variants in south Asian populations by integration of genome-scale data. (February 2018) Authors: Hariprakash, Judith M; Vellarikkal, Shamsudheen K; Keechilat, Pavithran; Verma, Ankit; Jayarajan, Rijith; Dixit, Vishal; Ravi, Rowmika; Senthivel, Vigneshwar; Kumar, Anoop; Sehgal, Paras; , Aradhana; Sonakar, Akhilesh K; Ambawat, Sakshi; Giri, Anil K; Philip, Arun; Sivadas, Akhila; Faruq, Mohamme... Journal: Pharmacogenomics Issue: Volume 19:Number 3(2018) Page Start: 227 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗