Genetic insights into male autism spectrum disorder in a small cohort of Indian simplex families: findings from whole exome sequencing

Autor: Gautham Arunachal Udupi, Srividhya Durbagula, Snijesh Valiya Parambath, Ashitha Siddappa Niranjana Murthy, Meghana Rameshraju K, Chetan Ghati Kasturirangan, Nallur B Ramachandra, Aparna Huligerepura Sosalegowda, Vijaya Raman, Aruna Korlimarla, Naveen Kumar Chandappa Gowda

Publikováno v: General Psychiatry, Vol 37, Iss 6 (2024)

Externí odkaz: https://doaj.org/article/2838d0eed9884cd7997c3757d10fe41f

Whole Exome Sequencing of a Multiplex Family of Indian Origin Identifies Variants in the RAI1and FLIIGenes within the 17p11.2 Region in Siblings with Autism and Smith Magenis Syndrome

Autor: Srividhya, Durbagula, Parambath, Snijesh Valiya, Sathyanarayanan, Ranganayaki, Huligerepura Sosalegowda, Aparna, Korlimarla, Aruna, Niranjana Murthy, Ashitha S., Prabhakaran, Nishant, Vijayanand, Meghana, Gowda, Naveen Kumar Chandappa

Publikováno v: Molecular Syndromology; 20240101, Issue: Preprints p1-8, 8p

Genetic insights into male autism spectrum disorder in a small cohort of Indian simplex families: findings from whole exome sequencing.

Autor: Durbagula S; Department of Studies in Biotechnology, University of Mysore, Mysore, Karnataka, India.; St John's National Academy of Health Sciences, Bangalore, Karnataka, India., Parambath SV; CAREADD, St John's Research Institute, Bangalore, Karnataka, India.; Department of Molecular Medicine, St John's National Academy of Health Sciences, Bangalore, Karnataka, India., Siddappa Niranjana Murthy A; St John's National Academy of Health Sciences, Bangalore, Karnataka, India.; CAREADD, St John's Research Institute, Bangalore, Karnataka, India., Rameshraju K M; Department of Studies in Genetics and Genomics, University of Mysore, Mysore, Karnataka, India., Ghati Kasturirangan C; Department of Human Genetics, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India., Udupi GA; Department of Human Genetics, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India., Ramachandra NB; Department of Studies in Genetics and Genomics, University of Mysore, Mysore, Karnataka, India., Huligerepura Sosalegowda A; Department of Studies in Biotechnology, University of Mysore, Mysore, Karnataka, India., Raman V; St John's National Academy of Health Sciences, Bangalore, Karnataka, India.; CAREADD, St John's Research Institute, Bangalore, Karnataka, India., Korlimarla A; CAREADD, St John's Research Institute, Bangalore, Karnataka, India.; Department of Research, Sri Shankara Cancer Hospital and Research Center, Bangalore, Karnataka, India., Gowda NKC; CAREADD, St John's Research Institute, Bangalore, Karnataka, India.; Department of Molecular Medicine, St John's National Academy of Health Sciences, Bangalore, Karnataka, India.

Publikováno v: General psychiatry [Gen Psychiatr] 2024 Nov 09; Vol. 37 (6), pp. e101606. Date of Electronic Publication: 2024 Nov 09 (Print Publication: 2024).