1. "Twig-like" cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report. Issue 4 (August 2018) Authors: Nagarajan, Krishnan; Swamiappan, Elango; Anbazhagan, Sathiaprabhu; Dalal, Ashwin; Adithan, Subathra; Krings, Timo Journal: Interventional neuroradiology Issue: Volume 24:Issue 4(2018:Aug.) Page Start: 463 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A comprehensive profile of genomic variations in the SARS-CoV-2 isolates from the state of Telangana, India. (15th March 2021) Authors: Gupta, Asmita; Sabarinathan, Radhakrishnan; Bala, Pratyusha; Donipadi, Vinay; Vashisht, Divya; Katika, Madhumohan Rao; Kandakatla, Manohar; Mitra, Debashis; Dalal, Ashwin; Bashyam, Murali Dharan Journal: Journal of general virology Issue: Volume 102:Number 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians. Issue 4 (1st March 2021) Authors: Kausthubham, Neethukrishna; Shukla, Anju; Gupta, Neerja; Bhavani, Gandham S.; Kulshrestha, Samarth; Das Bhowmik, Aneek; Moirangthem, Amita; Bijarnia‐Mahay, Sunita; Kabra, Madhulika; Puri, Ratna D.; Mandal, Kausik; Verma, Ishwar C.; Bielas, Stephanie L.; Phadke, Shubha R.; Dalal, Ashwin; Girisha, ... Journal: Human mutation Issue: Volume 42:Issue 4(2021) Page Start: e15 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series. (2nd January 2018) Authors: Aggarwal, Shagun; Tandon, Ashwani; Das Bhowmik, Aneek; Safarulla, Jamal Mohamed Nurul Jain; Dalal, Ashwin Journal: Fetal and pediatric pathology Issue: Volume 37:Number 1(2018) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum. Issue 7 (25th April 2016) Authors: Aggarwal, Shagun; Bhowmik, Aneek Das; Ramprasad, Vedam L.; Murugan, Sakthivel; Dalal, Ashwin Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: 1868 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Autopsy findings in EPG5‐related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus. Issue 2 (11th December 2017) Authors: Aggarwal, Shagun; Tandon, Ashwani; Bhowmik, Aneek Das; Dalal, Ashwin Journal: American journal of medical genetics Issue: Volume 176:Issue 2(2018) Page Start: 499 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene. Issue 5 (21st April 2018) Authors: Patil, Siddaramappa Jagdish; Das Bhowmik, Aneek; Bhat, Venkatraman; Satidevi Vineeth, Venugopal; Vasudevamurthy, Rashmi; Dalal, Ashwin Journal: American journal of medical genetics Issue: Volume 176:Issue 5(2018) Page Start: 1200 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy. Issue 2 (24th November 2015) Authors: Bhavani, Gandham SriLakshmi; Shah, Hitesh; Shukla, Anju; Gupta, Neerja; Gowrishankar, Kalpana; Rao, Anand P.; Kabra, Madhulika; Agarwal, Meenal; Ranganath, Prajnya; Ekbote, Alka V.; Phadke, Shubha R.; Kamath, Asha; Dalal, Ashwin; Girisha, Katta Mohan Journal: American journal of medical genetics Issue: Volume 170:Issue 2(2016) Page Start: 410 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations. Issue 6 (27th March 2014) Authors: Kantaputra, Piranit Nik; Kayserili, Hulya; Guven, Yeliz; Kantaputra, Warissara; Balci, Mehmet C.; Tanpaiboon, Pranoot; Tananuvat, Napaporn; Uttarilli, Anusha; Dalal, Ashwin Journal: American journal of medical genetics Issue: Volume 164:Issue 6(2014.) Page Start: 1443 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders. Issue 6 (4th April 2016) Authors: Phadke, Shubha R.; Kar, Anjana; Bhowmik, Aneek Das; Dalal, Ashwin Journal: American journal of medical genetics Issue: Volume 170:Issue 6(2016) Page Start: 1622 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗