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

Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities

进一步证据表明，双等位基因NAV3变异与隐性神经发育障碍相关，该障碍伴有畸形、发育迟缓、智力障碍和行为异常。

期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-024-02718-6
Kakar, Naseebullah; Mascarenhas, Selinda; Ali, Asmat; Azmatullah; Ijlal Haider, Syed M; Badiger, Vaishnavi Ashok; Ghofrani, Mobina Shadman; Kruse, Nathalie; Hashmi, Sohana Nadeem; Pozojevic, Jelena; Balachandran, Saranya; Toft, Mathias; Malik, Sajid; Händler, Kristian; Fatima, Ambrin; Iqbal, Zafar; Shukla, Anju; Spielmann, Malte; Radhakrishnan, Periyasamy
发育与干细胞
神经科学
发表日期：2025
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Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

LRRC45 的双等位基因变异会损害纤毛发生并导致严重的神经系统疾病

期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.14663
Radhakrishnan Periyasamy, Quadri Neha, Erger Florian, Fuhrmann Nico, Geist Otilia-Maria, Netzer Christian, Khyriem Ibakordor, Muranjan Mamta, Udani Vrajesh, Yeole Mayuri, Mascarenhas Selinda, Limaye Sanket, Siddiqui Shahyan, Upadhyai Priyanka, Shukla Anju
神经科学
发表日期：2025
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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

期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.63914
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
神经科学
发表日期：2025
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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

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-023-01513-7
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
发育与干细胞
神经科学
发表日期：2024
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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

期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.14495
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
癫痫
神经科学
发表日期：2024
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Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature

报告在三个互不相关的硫胺素代谢功能障碍综合征5型家族中发现一种新的复发性纯合变异c.620A>T，并进行文献综述

期刊:Clinical Dysmorphology
影响因子:0.5
doi:10.1097/MCD.0000000000000490
Mascarenhas, Selinda; Yeole, Mayuri; Rao, Lakshmi Priya; do Rosario, Michelle C; Majethia, Purvi; Nair, Karthik Vijay; Sharma, Suvasini; Barala, Praveen Kumar; Puri, Ratna Dua; Pal, Swasti; Siddiqui, Shahyan; Shukla, Anju
代谢
发表日期：2024
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Card9 and MyD88 differentially regulate Th17 immunity to the commensal yeast Malassezia in the murine skin

Card9 和 MyD88 差异调节小鼠皮肤中 Th17 对共生酵母马拉色菌的免疫力

期刊:
影响因子:
doi:10.1101/2024.07.12.603211
Meret Tuor, Mark H T Stappers, Fiorella Ruchti, Alice Desgardin, Florian Sparber, Selinda J Orr, Neil A R Gow, Salomé LeibundGut-Landmann
免疫
发表日期：2024
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Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy

进一步验证颅缝早闭作为BCL11B相关BAF病表型谱的一部分

期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.63330
Pande, Shruti; Mascarenhas, Selinda; Venkatraman, Aishwarya; Bhat, Vivekananda; Narayanan, Dhanya Lakshmi; Siddiqui, Shahyan; Bielas, Stephanie; Girisha, Katta Mohan; Shukla, Anju
BAF
发表日期：2023
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Defective antifungal immunity in patients with COVID-19

新冠肺炎患者抗真菌免疫缺陷

期刊:Frontiers in Immunology
影响因子:5.9
doi:10.3389/fimmu.2022.1080822
Morton, Charles Oliver; Griffiths, James S; Loeffler, Juergen; Orr, Selinda; White, P Lewis
肺炎
新冠
免疫/内分泌
微生物学
发表日期：2022
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The Use of Host Biomarkers for the Management of Invasive Fungal Disease

利用宿主生物标志物管理侵袭性真菌病

期刊:Journal of Fungi
影响因子:4
doi:10.3390/jof8121307
Griffiths, James S; Orr, Selinda J; Morton, Charles Oliver; Loeffler, Juergen; White, P Lewis
微生物学
发表日期：2022
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