Ashwin B Dalal (Ashwin Bhikaji Dalal, Ashwin Dalal)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 29

Top Topics

Duchenne Muscular Dystrophy

Dna Methylation

Top Venues

American journal of medical genetics. Part A

European journal of human genetics : EJHG

Clinical genetics

Journal of clinical medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Swati Singh, Hitesh Shah, Ashwin B Dalal, Anju Shukla, Gandham SriLakshmi Bhavani, Katta Mohan Girisha
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. American journal of medical genetics. Part A 194 (8) (2024)
Lakmal Gonawala, Nalaka Wijekoon, Darshika Attanayake, Pyara Ratnayake, Darshana Sirisena, Harsha Gunasekara, Athula Dissanayake, Ajantha Keshavaraj, Chandra Mohan, Harry W M Steinbusch, Eric P Hoffman, Ashwin B Dalal, K Ranil D De Silva
Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation. European journal of human genetics : EJHG (2024)
T Pragna Lakshmi, Neelam Saini, Mehul A Shah, Swarnalata Gowrishankar, Ashwin B Dalal, Prajnya Ranganath
Short stature and dysmorphic features in Asian Indian siblings with DAAM2-associated steroid-resistant nephrotic syndrome: Expansion of the phenotypic spectrum or a blended phenotype? Clinical genetics 106 (4) (2024)
Swati Singh, Hitesh Shah, Ashwin B Dalal, Anju Shukla, Gandham SriLakshmi Bhavani, Katta Mohan Girisha
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. American journal of medical genetics. Part A (2024)
Sivagamy Sithambaram, Prince Jacob, Kausthubham Neethukrishna, Gandham SriLakshmi Bhavani, Ashwin B Dalal, Hitesh Shah, Katta Mohan Girisha
PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient. American journal of medical genetics. Part A 194 (7) (2024)
Swati Singh, Hitesh Shah, Ashwin B Dalal, Anju Shukla, Gandham SriLakshmi Bhavani, Katta Mohan Girisha
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. American journal of medical genetics. Part A 194 (8) (2024)
Swati Singh, Hitesh Shah, Ashwin B Dalal, Anju Shukla, Gandham SriLakshmi Bhavani, Katta Mohan Girisha
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. American journal of medical genetics. Part A 194 (8) (2024)
Sivagamy Sithambaram, Prince Jacob, Kausthubham Neethukrishna, Gandham SriLakshmi Bhavani, Ashwin B Dalal, Hitesh Shah, Katta Mohan Girisha
PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient. American journal of medical genetics. Part A (2024)
Sivagamy Sithambaram, Prince Jacob, Kausthubham Neethukrishna, Gandham SriLakshmi Bhavani, Ashwin B Dalal, Hitesh Shah, Katta Mohan Girisha
PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient. American journal of medical genetics. Part A 194 (7) (2024)
Swati Singh, Hitesh Shah, Ashwin B Dalal, Anju Shukla, Gandham SriLakshmi Bhavani, Katta Mohan Girisha
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. American journal of medical genetics. Part A 194 (8) (2024)
Swati Singh, Hitesh Shah, Ashwin B Dalal, Anju Shukla, Gandham SriLakshmi Bhavani, Katta Mohan Girisha
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. American journal of medical genetics. Part A 194 (8) (2024)
Swati Singh, Hitesh Shah, Ashwin B Dalal, Anju Shukla, Gandham SriLakshmi Bhavani, Katta Mohan Girisha
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. American journal of medical genetics. Part A (2024)
Swati Singh, Hitesh Shah, Ashwin B Dalal, Anju Shukla, Gandham SriLakshmi Bhavani, Katta Mohan Girisha
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. American journal of medical genetics. Part A 194 (8) (2024)
Lakmal Gonawala, Nalaka Wijekoon, Darshika Attanayake, Pyara Ratnayake, Darshana Sirisena, Harsha Gunasekara, Athula Dissanayake, Ajantha Keshavaraj, Chandra Mohan, Harry W M Steinbusch, Eric P Hoffman, Ashwin B Dalal, K Ranil D De Silva
Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation. European journal of human genetics : EJHG (2024)
T Pragna Lakshmi, Neelam Saini, Mehul A Shah, Swarnalata Gowrishankar, Ashwin B Dalal, Prajnya Ranganath
Short stature and dysmorphic features in Asian Indian siblings with DAAM2-associated steroid-resistant nephrotic syndrome: Expansion of the phenotypic spectrum or a blended phenotype? Clinical genetics (2024)
Asodu Sandeep Sarma, Bathula Siddardha, T Pragna Lakshmi, Prajnya Ranganath, Ashwin B Dalal
A novel homozygous synonymous splicing variant in SELENOI gene causes Spastic Paraplegia 81. The journal of gene medicine (2023)
Lindsay A Wilson, William L Macken, Luke D Perry, Christopher J Record, Katherine R Schon, Rodrigo Siqueira Soares Frezatti, Sharika V Raga, Kireshnee Naidu, Özlem Yayıcı Köken, Ipek Polat, Musambo M Kapapa, Natalia Dominik, Stephanie Efthymiou, Heba Morsy, Melissa Nel, Mahmoud R Fassad, Fei Gao, Krutik Patel, Maryke Schoonen, Michelle Bisschoff, Armand Vorster, Hallgeir Jonvik, Ronel Human, Elsa Lubbe, Malebo Nonyane, Seena Vengalil, Saraswati Nashi, Kosha Srivastava, Richard J L F Lemmers, Alisha Reyaz, Rinkle Mishra, Ana Töpf, Christina I Trainor, Elizabeth C Steyn, Amokelani C Mahungu, Patrick J van der Vliet, Ahmet Cevdet Ceylan, A Semra Hiz, Büşranur Çavdarlı, C Nur Semerci Gündüz, Gülay Güleç Ceylan, Madhu Nagappa, Karthik B Tallapaka, Periyasamy Govindaraj, Silvère M van der Maarel, Gayathri Narayanappa, Bevinahalli N Nandeesh, Somwe Wa Somwe, David R Bearden, Michelle P Kvalsund, Gita M Ramdharry, Yavuz Oktay, Uluç Yiş, Haluk Topaloğlu, Anna Sarkozy, Enrico Bugiardini, Franclo Henning, Jo M Wilmshurst, Jeannine M Heckmann, Robert McFarland, Robert W Taylor, Izelle Smuts, Francois Hendrikus van der Westhuizen, Claudia Ferreira Da Rosa Sobreira, Pedro José Tomaselli, Wilson Marques, Rohit Bhatia, Ashwin B Dalal, M V Padma Srivastava, Sireesha Yareeda, Atchayaram Nalini, Venugopalan Yamuna Vishnu, Kumarasamy Thangaraj, Volker Straub, Rita Horvath, Patrick F Chinnery, Robert D S Pitceathly, Francesco Muntoni, Henry Houlden, Jana Vandrovcova, Mary M Reilly, Michael G Hanna
Neuromuscular disease genetics in underrepresented populations: increasing data diversity. Brain : a journal of neurology (2023)
Nalaka Wijekoon, Lakmal Gonawala, Pyara Ratnayake, Dhammika Amaratunga, Yetrib Hathout, Chandra Mohan, Harry W M Steinbusch, Ashwin B Dalal, Eric P Hoffman, K Ranil D De Silva
Duchenne Muscular Dystrophy from Brain to Muscle: The Role of Brain Dystrophin Isoforms in Motor Functions. Journal of clinical medicine 12 (17) (2023)
Prajna Udupa, Debasish Kumar Ghosh, Neethukrishna Kausthubham, Hitesh Shah, Sandip Bartakke, Ashwin B Dalal, Katta M Girisha, Gandham Sri Lakshmi Bhavani
Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis. Journal of human genetics (2022)
Priya Ranganath, Vineeth Vs, Ikromi Rungsung, Ashwin B Dalal, Shagun Aggarwal
Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey! Fetal and pediatric pathology (2022)
Vijaya Sree Venkatapuram, Shagun Aggarwal, Aditya Deepak Kulkarni, Venugopal Satidevi Vineeth, Ashwin B Dalal, Venkatraman Bhat, Lavanya Kiran, Siddaramappa Jagdish Patil
Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants. American journal of medical genetics. Part A 188 (4) (2022)
Neelam Saini, Aneek Das Bhowmik, Sireesha Yareeda, Vijayasree Venkatapuram, Shaik Afshan Jabeen, Karthik Tallapaka, Ashwin B Dalal, Shagun Aggarwal
Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome. American journal of medical genetics. Part A (2022)
Dipti Deshpande, Shailesh Kumar Gupta, Asodu Sandeep Sarma, Prajnya Ranganath, Jamal Md Nurul Jain S, Jayesh Sheth, Mehul Mistri, Neerja Gupta, Madhulika Kabra, Shubha R Phadke, Katta M Girisha, Ratna Dua Puri, Shagun Aggarwal, Chaitanya Datar, Kausik Mandal, Preetha Tilak, Mamta Muranjan, Sunita Bijarnia-Mahay, Radharamadevi Akella, Naresh B Tayade, Akash Ranjan, Ashwin B Dalal
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency. Human mutation 42 (10) (2021)
Katta Mohan Girisha, Shruti Pande, Ashwin B Dalal, Shubha Rao Phadke
Untapped opportunities for rare disease gene discovery in India. American journal of medical genetics. Part A 182 (12) (2020)
Siddaramappa Jagdish Patil, Aneek Das Bhowmik, Venkatraman Bhat, Venugopal Satidevi Vineeth, Rashmi Vasudevamurthy, Ashwin B Dalal
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene. American journal of medical genetics. Part A 176 (5) (2019)
Karthik Tallapaka, Vineeth Venugopal, Ashwin B Dalal, Shagun Aggarwal
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype. American journal of medical genetics. Part A 176 (4) (2019)
Anjana Kar, Shubha Rao Phadke, Aneek Das Bhowmik, Ashwin B Dalal
Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly. American journal of medical genetics. Part A 176 (1) (2017)
Dhanya Lakshmi Narayanan, Dipti Deshpande, Aneek Das Bhowmik, Dandu R Varma, Ashwin B Dalal
Familial choreoathetosis due to novel heterozygous mutation in PDE10A. American journal of medical genetics. Part A 176 (1) (2017)
Aneek Das Bhowmik, Vijayalakshmi Salem Ramakumaran, Ashwin B Dalal
Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation. American journal of medical genetics. Part A 176 (1) (2017)