Scope of genetic testing for inherited cardiovascular diseases in the clinical practice by Advithi Rangaraju, Ashwin Dalal

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Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea by Usha R. Dutta, Vijaya Kumar Pidugu, Ashwin Dalal

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A case of fatal familial edema by Sriram Easwaran, Milind Phadke, Nitin Burkule, Ashwin Dalal, Pratap Nathani

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Recurrent Mutation in Mosaic Form with Nocturnal Paroxysmal Dyskinesias and Video Electroencephalography Documentation of Dramatic Response to Caffeine Treatment by Kuldeep Shetty, Asodu Sandeep Sarma, Meera Devan, Ashwin Dalal, Gopal Krishna Dash, Apuroopa Jannabhatla, Siddaramappa Jagadish Patil

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A Novel Homozygous Variant in the Aspartoacylase Gene Causes Canavan Disease-Case Report by Archana Vaddinahalli Kariyappa, Shilpa Krishnapura Lakshminarayana, Dhanalakshmi Kumble, Kavitha Siddappa, Kalpana Ramesh Yelsangikar, Mallesh Kariyappa, Thotakura Pranga Lakshmi, Ashwin Dalal

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Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting by Nalaka Wijekoon, Lakmal Gonawala, Pyara Ratnayake, Roshan Liyanage, Dhammika Amaratunga, Yetrib Hathout, Harry W. M. Steinbusch, Ashwin Dalal, Eric P. Hoffman, K. Ranil D. de Silva

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Gene therapy for selected neuromuscular and trinucleotide repeat disorders – An insight to subsume South Asia for multicenter clinical trials by Nalaka Wijekoon, Lakmal Gonawala, Pyara Ratnayake, Darshana Sirisena, Harsha Gunasekara, Athula Dissanayake, Sunethra Senanayake, Ajantha Keshavaraj, Yetrib Hathout, Harry W.M. Steinbusch, Chandra Mohan, Ashwin Dalal, Eric Hoffman, K.Ranil D de Silva

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Serum metabolomic signatures of patients with rare neurogenetic diseases: an insight into potential biomarkers and treatment targets by Nalaka Wijekoon, Nalaka Wijekoon, Lakmal Gonawala, Lakmal Gonawala, Pyara Ratnayake, Darshana Sirisena, Harsha Gunasekara, Athula Dissanayake, Dhammika Amaratunga, Harry W. M. Steinbusch, Yetrib Hathout, Eric P. Hoffman, Ashwin Dalal, Chandra Mohan, K. Ranil D. de Silva, K. Ranil D. de Silva

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Integrated genomic, proteomic and cognitive assessment in Duchenne Muscular Dystrophy suggest astrocyte centric pathology by Nalaka Wijekoon, Lakmal Gonawala, Pyara Ratnayake, Pulasthi Dissanayaka, Isuru Gunarathne, Dhammika Amaratunga, Roshan Liyanage, Sunethra Senanayaka, Saraji Wijesekara, Hemal H. Gunasekara, Kamala Vanarsa, Jessica Castillo, Yetrib Hathout, Ashwin Dalal, Harry W.M. Steinbusch, Eric Hoffman, Chandra Mohan, K. Ranil D. de Silva

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Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13 by Prince Jacob, Hillevi Lindelöf, Cecilie F. Rustad, Vernon Reid Sutton, Shahida Moosa, Prajna Udupa, Anna Hammarsjö, Gandham SriLakshmi Bhavani, Dominyka Batkovskyte, Kristian Tveten, Ashwin Dalal, Eva Horemuzova, Ann Nordgren, Emma Tham, Hitesh Shah, Else Merckoll, Laura Orellana, Gen Nishimura, Katta M. Girisha, Giedre Grigelioniene

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Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in In... by Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K. Gowda, Ashish Bavdekar, Sandeep Kadam, Sheela Nampoothiri, Inusha Panigrahi, Anupriya Kaur, Siddharth Shah, Sanjeev Mehta, Sujatha Jagadeesan, Indrani Suresh, Seema Kapoor, Shruti Bajaj, Radha Rama Devi, Ashka Prajapati, Koumudi Godbole, Harsh Patel, Zulfiqar Luhar, Raju C. Shah, Anand Iyer, Sunita Bijarnia, Ratna Puri, Mamta Muranjan, Ami Shah, Suvarna Magar, Neerja Gupta, Naresh Tayade, Ajit Gandhi, Ajit Sowani, Shrutikaa Kale, Anil Jalan, Dhaval Solanki, Ashwin Dalal, Shrikant Mane, C. Ratna Prabha, Frenny Sheth, Chaitanya G. Joshi, Madhvi Joshi, Jayesh Sheth

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