WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson's Disease.

Autor: Kumar, Mukesh^1,2, Gaharwar, Utkarsh¹, Paul, Sangita^1,2, Poojary, Mukta^1,2, Pandhare, Kavita¹, Scaria, Vinod^1,2 vinods@igib.in, BK, Binukumar^1,2 binukumar@igib.in

Publikováno v: Scientific Reports. 6/3/2020, Vol. 10 Issue 1, p1-6. 6p.

The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.

Autor: Kumar M; CSIR Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India., Sharma S; CSIR Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India., Pandey S; Department of Neurology and Stroke Medicine, Amrita Hospital, Faridabad, India.; Department of Neurology, G B Pant Hospital, JLN Marg, New Delhi, India., Mammayil G; Aster DM Healthcare Limited, Cochin, India., Pala Kuzhiyil A; Department of Pediatrics, Govt Medical College, Kozhikode, India., Sreesh S; Department of Medical Gastroenterology and Hepatology, Government Medical College, Trivandrum, India., Arakkal R; Kannur Medical College, Anjarakandy Integrated Campus, Kannur, India., Radhakrishnan DM; Department of Neurology, AIIMS, New Delhi, India., Rajan R; Department of Neurology, AIIMS, New Delhi, India., Amalnath D; Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India., Gulati R; Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India., Tayade N; Life Care Hospital, Amravati, India., Sadasivan S; Department of Hepatology and Gastroenterology, Amrita Institute of Medical Sciences and Research (AIMS), Kochi, India., Valsan A; Department of Hepatology and Gastroenterology, Amrita Institute of Medical Sciences and Research (AIMS), Kochi, India., Menon J; Department of Pediatric Hepatology and Gastroenterology, Dr Rela Institute and Medical Centre, Chennai, India.; Department of Gastroenterology, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Kamate M; Child Neurology, Belgaum Medical College, Belgaum, India., Mathur SK; Department of Endocrinology, SMS Medical College and Hospital, Jaipur, India., Mahadevan R; Department of Neurology, Tirunelveli Medical College, Tirunelveli, India., Dhingra B; Department of Paediatrics, All India Institute of Medical Sciences (AIIMS), Bhopal, India., Rajan R; KIMS Trust Hospital, Kozhikode, India., Singh K; Department of Pediatrics, AIIMS Jodhpur, Jodhpur, India., Shalimar; Department of Gastroenterology and Human Nutrition, All India Institute of Medical Sciences, New Delhi, India., Geevarghese SK; Holy Family Hospital, Muthalakkodam, India., Kumar VS; Subbaiah Institute of Medical Sciences, Shivamogga, India., Menachery J; Department Gastroenterology, Rajagiri Hospital, Aluva, India., Aliyar A; Department of Neurology, AIIMS, New Delhi, India., Bhoyar RC; CSIR Institute of Genomics and Integrative Biology, New Delhi, India., Jolly B; CSIR Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India., Jain A; CSIR Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India., Vittal Rangan A; CSIR Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India., Moitra T; CSIR Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India., Mhaske A; CSIR Institute of Genomics and Integrative Biology, New Delhi, India., Gupta V; CSIR Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India., Senthivel V; CSIR Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India., Mishra A; CSIR Institute of Genomics and Integrative Biology, New Delhi, India., Saini A; Department of Neurology, AIIMS, New Delhi, India., Gaharwar U; CSIR Institute of Genomics and Integrative Biology, New Delhi, India., Sivasubbu S; CSIR Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India., Scaria V; CSIR Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India., B K B; CSIR Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India.

Publikováno v: Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Nov 13. Date of Electronic Publication: 2024 Nov 13.