Shetty, K. and Sarma, A.S. and Devan, Meera and Dalal, Ashwin and Dash, G.K. and Jannabhatla, A. and Patil, S.J. (2020) Recurrent <i>ADCY5</i> Mutation in Mosaic Form with Nocturnal Paroxysmal Dyskinesias and Video Electroencephalography Documentation of Dramatic Response to Caffeine Treatment. Journal of Movement Disorders, 13 (3). pp. 238-240. ISSN 2005-940X

Das Bhowmik, A. and Patil, S.J. and Deshpande, D.V. and Bhat, V. and Dalal, Ashwin (2018) Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79. Journal of Human Genetics, 63 (8). pp. 927-933. ISSN 1434-5161

Patil, S.J. and Das Bhowmik, A. and Bhat, V. and Venugopal, S.V. and Rashmi, V. and Dalal, Ashwin (2018) Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene. American Journal of Medical Genetics Part A, 176 (5). pp. 1200-1206. ISSN 1552-4825

Ranganath, P. and Matta, D. and Bhavani, G.S. and Wangnekar, S. and Jain, J.M.N. and Verma, I.C. and Kabra, M. and Puri, R.D. and Danda, S. and Gupta, N. and Girisha, K.M. and Sankar, V.H. and Patil, S.J. and Radha Rama Devi, A. and Bhat, M. and Gowrishankar, K. and Mandal, K. and Aggarwal, Shagun and Tamhankar, P.M. and Tilak, P. and Phadke, S.R. and Dalal, Ashwin (2016) Spectrum of SMPD1mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. American Journal of Medical Genetics Part A, 170 (10). pp. 2719-2730. ISSN 1552-4825

Dalal, Ashwin and Ranganath, P. and Phadke, S.R. and Kabra, M. and Danda, S. and Puri, R.D. and Sankar, V.H. and Gupta, N. and Patil, S.J. and Mandal, K. and Tamhankar, P.M. and Aggarwal, Shagun and Agarwal, Meenal (2015) Prenatal diagnosis in India is not limited to sex selection. Genetics in Medicine, 17 (1). p. 88. ISSN 1098-3600

Patil, S.J. and Rai, G.K. and Bhat, V. and Ramesh, V.A. and Nagarajaram, H.A. and Matalia, J. and Phadke, S.R. (2014) Distal Arthrogryposis Type 5D With a Novel ECEL1 Gene Mutation. American Journal of Medical Genetics Part A, 164A (11). pp. 2857-2862. ISSN 1552-4833

Bidchol, A.M. and Dalal, Ashwin and Shah, H. and Suryanarayana, S. and Nampoothiri, S. and Kabra, M. and Gupta, N. and Danda, S. and Gowrishankar, K. and Phadke, S.R. and Kapoor, S. and Kamate, M. and Verma, I.C. and Puri, R.D. and Sankar, V.H. and Radha Rama Devi, A. and Patil, S.J. and Ranganath, P. and Jain, S.J.M.N. and Agarwal, Meenal and Singh, Ankur and Mishra, P. and Tamhankar, P.M. and Gopinath, P.M. and Nagarajaram, H.A. and Satyamoorthy, K. and Girisha, K.M. (2014) GALNS Mutations in Indian Patients With Mucopolysaccharidosis IVA. American Journal of Medical Genetics Part A, 164A (11). pp. 2793-2801. ISSN 1552-4833

Patil, S.J. and Bhat, V. and Dalal, Ashwin and Santosh, J.S. (2012) Confirmation of the Zechi-Ceide syndrome. American Journal of Medical Genetics Part A, 158A (6). pp. 1467-1471. ISSN 15524825

Patil, S.J. and Rajitha, Ponnala and Shah, S. and Dalal, Ashwin (2012) Mosaic Trisomy 9 Presenting with Congenital Heart Disease, Facial Dysmorphism and Pigmentary Skin Lesions: Intricate Issues of Genetic Counseling. The Indian Journal of Pediatrics, 79 (6). pp. 806-809. ISSN 0019-5456