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

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

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

Bashyam, M.D. and Chaudhary, A.K. and Bhat, V. (2012) The IVS-II-837 (T>G) Appears to be a Relatively Common 'Rare' β-Globin Gene Mutation in β-Thalassemia Patients in Karnataka State, South India. Hemoglobin, 36 (5). pp. 497-503. ISSN 0363-0269