日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Enhanced resolution of optical genome mapping utilizing telomere-to-telomere reference in genetic disorders

利用端粒到端粒参考序列提高光学基因组图谱的分辨率,用于遗传疾病研究

Banu, Sofia; Mk, Kanakavalli; George, Joel Kiran; Siby, Elizabeth; Bhagat, Rakeshpal; Ms, Sreelekshmi; Patil, Siddaramappa J; Phadke, Shubha R; Sowpati, Divya Tej; Tallapaka, Karthik Bharadwaj

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population

从神经影像学到基因分型:描绘印度人群髓鞘形成缺陷疾病谱

Kaur, Namanpreet; do Rosario, Michelle C; Majethia, Purvi; Mascarenhas, Selinda; Rao, Lakshmi Priya; Nair, Karthik Vijay; Hunakunti, Bhagesh; Prasannakumar, Adarsh Pooradan; Naik, Rohit; Narayanan, Dhanya Lakshmi; Nayak, Shalini S; Bhat, Vivekananda; Sharma, Suvasini; Ramesh Bhat, Y; Yatheesha, B L; Kulkarni, Rajesh; Patil, Siddaramappa J; Nampoothiri, Sheela; Siddiqui, Shahyan; Girisha, Katta Mohan; Bielas, Stephanie; Shukla, Anju

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

双等位基因 EPB41L3 变异会导致一种发育障碍,伴有癫痫发作和髓鞘形成缺陷

Werren Elizabeth A, Rodriguez Bey Guillermo, Majethia Purvi, Kaur Parneet, Patil Siddaramappa J, Kekatpure Minal V, Afenjar Alexandra, Qebibo Leila, Burglen Lydie, Tomoum Hoda, Demurger Florence, Duborg Christele, Siddiqui Shahyan, Tsan Yao-Chang, Abdullah Uzma, Ali Zafar, Saadi Saadia Maryam, Baig Shahid Mahmood, Houlden Henry, Maroofian Reza, Padiath Quasar Saleem, Bielas Stephanie L, Shukla Anju

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India

印度神经发育队列中导致智力障碍的单基因综合征的新生变异

Pande, Shruti; Majethia, Purvi; Nair, Karthik; Rao, Lakshmi Priya; Mascarenhas, Selinda; Kaur, Namanpreet; do Rosario, Michelle C; Neethukrishna, Kausthubham; Chaurasia, Ankur; Hunakunti, Bhagesh; Jadhav, Nalesh; Xavier, Sruthy; Kumar, Jeevan; Bhat, Vivekananda; Bhavani, Gandham SriLakshmi; Narayanan, Dhanya Lakshmi; Yatheesha, B L; Patil, Siddaramappa J; Nampoothiri, Sheela; Kamath, Nutan; Aroor, Shrikiran; Bhat Y, Ramesh; Lewis, Leslie E; Sharma, Suvasini; Bajaj, Shruti; Sankhyan, Naveen; Siddiqui, Shahyan; Nayak, Shalini S; Bielas, Stephanie; Girisha, Katta Mohan; Shukla, Anju

Molecular and Biochemical Therapeutic Strategies for Duchenne Muscular Dystrophy

杜氏肌营养不良症的分子和生化治疗策略

Krishna, Lakshmi; Prashant, Akila; Kumar, Yogish H; Paneyala, Shasthara; Patil, Siddaramappa J; Ramachandra, Shobha Chikkavaddaragudi; Vishwanath, Prashant

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications

印度142个家庭儿童期癫痫的遗传和表型特征:咨询和治疗意义

Majethia, Purvi; Kaur, Namanpreet; Mascarenhas, Selinda; Rao, Lakshmi Priya; Pande, Shruti; Narayanan, Dhanya Lakshmi; Bhat, Vivekananda; Nayak, Shalini S; Nair, Karthik Vijay; Prasannakumar, Adarsh Pooradan; Chaurasia, Ankur; Hunakunti, Bhagesh; Jadhav, Nalesh; Farooqui, Sheeba; Yeole, Mayuri; Kothiwale, Vishaka; Naik, Rohit; Bhat, Veena; Aroor, Shrikiran; Lewis, Leslie; Purkayastha, Jayashree; Bhat, Y Ramesh; Praveen, B K; Yatheesha, B L; Patil, Siddaramappa J; Nampoothiri, Sheela; Kamath, Nutan; Siddiqui, Shahyan; Bielas, Stephanie; Girisha, Katta Mohan; Sharma, Suvasini; Shukla, Anju

Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review

由双等位基因COL18A1突变引起的伴有后颅窝畸形和小脑中线裂异常的兄弟姐妹中的诺布洛赫综合征:病例回顾

Patil, Siddaramappa J; Pande, Shruti; Matalia, Jyoti; Bhat, Venkatraman; Kekatpure, Minal; Girisha, Katta Mohan

Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene

由BTD基因中一种新的纯合变异c.466-3T>G引起的迟发性亚急性重度生物素酶缺乏症

Mohite, Kaustubh; Nair, Karthik Vijay; Sapare, Anilkumar; Bhat, Venkatraman; Shukla, Anju; Kekatpure, Minal; Patil, Siddaramappa J

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities

104个印度中枢神经系统白质异常家族的临床和遗传谱

Kaur, Parneet; do Rosario, Michelle C; Hebbar, Malavika; Sharma, Suvasini; Kausthubham, Neethukrishna; Nair, Karthik; A, Shrikiran; Bhat Y, Ramesh; Lewis, Leslie Edward S; Nampoothiri, Sheela; Patil, Siddaramappa J; Suresh, Narayanaswami; Bijarnia Mahay, Sunita; Dua Puri, Ratna; Pai, Shivanand; Kaur, Anupriya; Kc, Rakshith; Kamath, Nutan; Bajaj, Shruti; Kumble, Ali; Shetty, Rajesh; Shenoy, Rathika; Kamate, Mahesh; Shah, Hitesh; Muranjan, Mamta N; Bl, Yatheesha; Avabratha, K Shreedhara; Subramaniam, Girish; Kadavigere, Rajagopal; Bielas, Stephanie; Girisha, Katta Mohan; Shukla, Anju

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

双等位基因TMEM94截断变异与神经发育迟缓、先天性心脏缺陷和独特的面部畸形有关

Stephen, Joshi; Maddirevula, Sateesh; Nampoothiri, Sheela; Burke, John D; Herzog, Matthew; Shukla, Anju; Steindl, Katharina; Eskin, Ascia; Patil, Siddaramappa J; Joset, Pascal; Lee, Hane; Garrett, Lisa J; Yokoyama, Tadafumi; Balanda, Nicholas; Bodine, Steven P; Tolman, Nathanial J; Zerfas, Patricia M; Zheng, Allison; Ramantani, Georgia; Girisha, Katta M; Rivas, Cecilia; Suresh, Pujar V; Elkahloun, Abdel; Alsaif, Hessa S; Wakil, Salma M; Mahmoud, Laila; Ali, Rehab; Prochazkova, Michaela; Kulkarni, Ashok B; Ben-Omran, Tawfeg; Colak, Dilek; Morris, H Douglas; Rauch, Anita; Martinez-Agosto, Julian A; Nelson, Stanley F; Alkuraya, Fowzan S; Gahl, William A; Malicdan, May Christine V