The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population‐Scale Data
This study offers crucial insights into WD's genetic variations and prevalence in India, addressing its underdiagnosis. It highlights the novel genetic variants in the ATP7B gene, the involvement of other genes, a scalable, cost-effective multiplex sequencing panel for WD diagnosis and management and promising advancements in WD care.
Authors
- Anushree Mishra (ORCID: https://orcid.org/0000-0003-3858-9095)
- Vikram Kumar (ORCID: https://orcid.org/0000-0001-9038-8456)
- Aditi Mhaske
- Kuldeep Singh (ORCID: https://orcid.org/0000-0001-5239-6586)
- Utkarsh Gaharwar
- Vinod Scaria (ORCID: https://orcid.org/0000-0001-7644-7181)
- Divya Madathiparambil Radhakrishnan (ORCID: https://orcid.org/0000-0002-0641-7398)
- Srijaya Sreesh (ORCID: https://orcid.org/0000-0002-7112-0144)
- Rahul C. Bhoyar (ORCID: https://orcid.org/0000-0003-3070-1038)
- Reena Gulati (ORCID: https://orcid.org/0000-0002-6158-077X)
- Jagadeesh Menon (ORCID: https://orcid.org/0000-0002-2649-0058)
- Roopa Rajan (ORCID: https://orcid.org/0000-0003-4987-7252)
- Naresh Tayade
- Mahesh Kamate
- Bhavna Dhingra (ORCID: https://orcid.org/0000-0002-9606-5217)
- Geetha Mammayil
- Abhinav Jain (ORCID: https://orcid.org/0000-0001-6017-5492)
- Bani Jolly (ORCID: https://orcid.org/0000-0001-7969-1606)
- Radha Mahadevan (ORCID: https://orcid.org/0000-0002-6221-4907)
- Sanjay Pandey (ORCID: https://orcid.org/0000-0003-1771-9137)
- Srishti Sharma (ORCID: https://orcid.org/0000-0003-3568-9648)
- Aslam Pala Kuzhiyil
- Arun Valsan (ORCID: https://orcid.org/0000-0002-8410-9665)
- Riyaz Arakkal
- Aminu Aliyar
- Shine Sadasivan
- Sandeep Kumar Mathur (ORCID: https://orcid.org/0000-0001-7494-4061)
- S. Shalimar (ORCID: https://orcid.org/0000-0003-1247-437X)
- Anna Rangan (ORCID: https://orcid.org/0000-0003-1815-844X)
- John Menachery
- Vishu Gupta
- Sunil K. Geevarghese (ORCID: https://orcid.org/0000-0001-6356-0310)
- Binukumar BK (ORCID: https://orcid.org/0000-0003-0933-4691)
- Vigneshwar Senthivel (ORCID: https://orcid.org/0000-0003-0378-7593)
- Arti Saini (ORCID: https://orcid.org/0000-0001-5223-9206)
- Sridhar Sivasubbu (ORCID: https://orcid.org/0000-0003-2411-4240)
- Mukesh Kumar (ORCID: https://orcid.org/0000-0002-1705-8853)
- Deepak Amalnath
- R. Rajan
- Trisha Moitra
Institutions
- Tirunelveli Medical College (IN)
- Amrita Institute of Medical Sciences and Research Centre (IN)
- All India Institute of Medical Sciences Raipur (IN)
- Holy Family Hospital (IN)
- SMS Medical College (IN)
- Institute of Genomics and Integrative Biology (IN)
- All India Institute of Medical Sciences Jodhpur (IN)
- Government Medical College (IN)
- All India Institute of Medical Sciences Bhopal (IN)
- Subbaiah Medical College (IN)
- Rajagiri Hospital (IN)
- Kannur Medical College (IN)
- Aster Medcity (IN)
- Govind Ballabh Pant Hospital (IN)
- Government Medical College (IN)
- Post Graduate Institute of Medical Education and Research (IN)
- Jawaharlal Institute of Post Graduate Medical Education and Research (IN)
- All India Institute of Medical Sciences (IN)
- Academy of Scientific and Innovative Research (IN)
Publication Details
- Journal
- Movement Disorders Clinical Practice
- Published
- 2024-11-13
- DOI
- https://doi.org/10.1002/mdc3.14266
- Citations
- 4
- Primary Topic
- Trace Elements in Health
- Type
- article
- Field-Weighted Citation Impact
- 1.24
Funders
- University Grants Commission