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

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

Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

基因组测序发现SNX10基因存在大片段非编码区缺失,导致常染色体隐性骨硬化症。

Udupa, Prajna; Ghosh, Debasish Kumar; Kausthubham, Neethukrishna; Shah, Hitesh; Bartakke, Sandip; Dalal, Ashwin; Girisha, Katta M; Bhavani, Gandham SriLakshmi

A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia

纯合的次等位基因 BNIP1 变体导致自噬体增加、自噬通量减少,并导致脊椎骨骺发育不良

Tess Holling, Gandham S Bhavani, Leonie von Elsner, Hitesh Shah, Neethukrishna Kausthubham, Shaila S Bhattacharyya, Anju Shukla, Geert R Mortier, Thorsten Schinke, Tatyana Danyukova, Sandra Pohl, Kerstin Kutsche, Katta M Girisha

Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3

EXOC6B 中的双等位基因功能丧失变异与原发性纤毛发生受损有关,并导致 3 型关节松弛症的脊椎-上皮-干骺端发育不良

Pelin Ozlem Simsek-Kiper, Prince Jacob, Priyanka Upadhyai, Zihni Ekim Taşkıran, Vishal S Guleria, Beren Karaosmanoglu, Gozde Imren, Rahsan Gocmen, Gandham S Bhavani, Neethukrishna Kausthubham, Hitesh Shah, Gulen Eda Utine, Koray Boduroglu, Katta M Girisha

Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling

孟德尔遗传病的多位点致病基因组变异:系统表型分析的作用及其对遗传咨询的意义

Narayanan, Dhanya Lakshmi; Udyawar, Divya; Kaur, Parneet; Sharma, Suvasini; Suresh, Narayanaswamy; Nampoothiri, Sheela; do Rosario, Michelle C; Somashekar, Puneeth H; Rao, Lakshmi Priya; Kausthubham, Neethukrishna; Majethia, Purvi; Pande, Shruti; Ramesh Bhat, Y; Shrikiran, Aroor; Bielas, Stephanie; Girisha, Katta Mohan; Shukla, Anju

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians

一个包含来自1455个临床和研究外显子组的变异数据集,能够有效地对印度人早发性单基因疾病的变异进行优先级排序。

Kausthubham, Neethukrishna; Shukla, Anju; Gupta, Neerja; Bhavani, Gandham S; Kulshrestha, Samarth; Das Bhowmik, Aneek; Moirangthem, Amita; Bijarnia-Mahay, Sunita; Kabra, Madhulika; Puri, Ratna D; Mandal, Kausik; Verma, Ishwar C; Bielas, Stephanie L; Phadke, Shubha R; Dalal, Ashwin; Girisha, Katta M

Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A

TRIP11 中的双等位基因深内含子变异 c.5457+81T>A 导致功能丧失并导致软骨形成 1A

Priyanka Upadhyai, Periyasamy Radhakrishnan, Vishal S Guleria, Neethukrishna Kausthubham, Shalini S Nayak, Andrea Superti-Furga, Katta M Girisha

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

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

TONSL 的亚等位基因突变导致 SPONASTRIME 发育不良

Hae Ryung Chang, Sung Yoon Cho, Jae Hoon Lee, Eunkyung Lee, Jieun Seo, Hye Ran Lee, Denise P Cavalcanti, Outi Mäkitie, Helena Valta, Katta M Girisha, Chung Lee, Kausthubham Neethukrishna, Gandham S Bhavani, Anju Shukla, Sheela Nampoothiri, Shubha R Phadke, Mi Jung Park, Shiro Ikegawa, Zheng Wang, Ma

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

PISD 中的纯合变异 c.797G>A/p.(Cys266Tyr) 与脊椎骨骺端发育不良有关,骨骺较大,线粒体功能紊乱

Katta M Girisha, Leonie von Elsner, Kausthubham Neethukrishna, Mamta Muranjan, Anju Shukla, Gandham SriLakshmi Bhavani, Gen Nishimura, Kerstin Kutsche, Geert Mortier