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S

Saraswati Nashi

department of neurology
H指数:17
被引数:849

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Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene

对101个神经肌肉疾病家系下一代测序数据的系统性再分析提高了诊断率，揭示了内含子变异，并鉴定出一个新的疾病基因

Journal of Neurology
IF4.6
2026-07-200
PRE
Sivasankar Malaichamy; Kiran Polavarapu; Rachel Thompson; Romane Idoux; Sally Spendiff; Veronika Karcagi; Agnes Herczegfalvi; Momen Almomen; Rosana Herminia Scola; Paulo José Lorenzoni; Edmar Zanoteli; Antonio Alberto Zambon; Clara Gontijo Camelo; Eduardo de Paula Estephan; Thenral S. Geetha; Vedam L. Ramprasad; Seena Vengalil; Saraswati Nashi; Muddassu Keerthipriya; Dipti Baskar; Veeramani Preethish-Kumar; Ananthapadmanabha Kotambail; David Muhmann; Ulrike Schara-Schmidt; Steven Laurie; Leslie Matalonga; Sergi Beltran; Andreas Roos; Ivo Barić; Atchayaram Nalini; Hanns Lochmüller
Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases
JOURNAL OF THE NEUROLOGICAL SCIENCES
IF3.2
2025-01-010
PRE
Ananthasubramanian, Sangeeth Thuppanattumadam; Padmanabha, Hansashree; Ravindranadh, C. M.; Kenchiah, Raghavendra; Bhatia, Saloni; Santhoshkumar, Rashmi; Kumar, Tumulu Seetam; Sukrutha, Ramya; Arunachal, Gautham; Karthik, K.; Nagappa, Madhu; Nashi, Saraswati; Mahale, Rohan; Viswananthan, L. G.; Pooja, M.; Nagaraj, A. R.; Shekar, J. Ravi; Yasha, T. C.; Mahadevan, Anita; Sinha, Sanjib
Unique genotypic pattern in Indian DPAGT1 congenital myasthenic syndrome patients with two likely founder mutations
JOURNAL OF THE NEUROLOGICAL SCIENCES
IF3.2
2023-12-010
PRE
Polavarapu, Kiran; Sunitha, Balaraju; Topf, Ana; Vengalil, Seena; Nashi, Saraswati; Kumar, Veeramani Preethish; Thompson, Rachel; Sanka, Sai Bhargava; Baskar, Dipti; Unnikrishnan, Gopikrishan; Huddar, Akshata; Porter, Anna; Azuma, Yoshiteru; Bardhan, Mainak; Arunachal, Gautham; Horvath, Rita; Nalini, Atchayaram; Lochmueller, Hanns
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort
BRAIN
IF11.7
2023-09-182
OA
Polavarapu, Kiran; Sunitha, Balaraju; Topf, Ana; Preethish-Kumar, Veeramani; Thompson, Rachel; Vengalil, Seena; Nashi, Saraswati; Bardhan, Mainak; Sanka, Sai Bhargava; Huddar, Akshata; Unnikrishnan, Gopikrishnan; Arunachal, Gautham; Girija, Manu Santhappan; Porter, Anna; Azuma, Yoshiteru; Lorenzoni, Paulo Jose; Baskar, Dipti; Anjanappa, Ram Murthy; Keertipriya, Madassu; Padmanabh, Hansashree; Harikrishna, Ganaraja Valakunja; Laurie, Steve; Matalonga, Leslie; Horvath, Rita; Nalini, Atchayaram; Lochmuller, Hanns
Neuromuscular disease genetics in under-represented populations: increasing data diversity
BRAIN
IF11.7
2023-07-308
OAAI
Wilson, Lindsay A.; Macken, William L.; Perry, Luke D.; Record, Christopher J.; Schon, Katherine; Frezatti, Rodrigo S. S.; Raga, Sharika; Naidu, Kireshnee; Koken, Ozlem Yayici; Polat, Ipek; Kapapa, Musambo M.; Dominik, Natalia; Efthymiou, Stephanie; Morsy, Heba; Nel, Melissa; Fassad, Mahmoud R.; Gao, Fei; Patel, Krutik; Schoonen, Maryke; Bisschoff, Michelle; Vorster, Armand; Jonvik, Hallgeir; Human, Ronel; Lubbe, Elsa; Nonyane, Malebo; Vengalil, Seena; Nashi, Saraswati; Srivastava, Kosha; Lemmers, Richard J. L. F.; Reyaz, Alisha; Mishra, Rinkle; Topf, Ana; Trainor, Christina I.; Steyn, Elizabeth C.; Mahungu, Amokelani C.; van der Vliet, Patrick J.; Ceylan, Ahmet Cevdet; Hiz, A. Semra; Cavdarli, Busranur; Gunduz, C. Nur Semerci; Ceylan, Gulay Gulec; Nagappa, Madhu; Tallapaka, Karthik B.; Govindaraj, Periyasamy; van der Maarel, Silvere M.; Narayanappa, Gayathri; Nandeesh, Bevinahalli N.; Somwe, Somwe Wa; Bearden, David R.; Kvalsund, Michelle P.; Ramdharry, Gita M.; Oktay, Yavuz; Yis, Uluc; Topaloglu, Haluk; Sarkozy, Anna; Bugiardini, Enrico; Henning, Franclo; Wilmshurst, Jo M.; Heckmann, Jeannine M.; McFarland, Robert; Taylor, Robert W.; Smuts, Izelle; van der Westhuizen, Francois H.; da Rosa Sobreira, Claudia Ferreira; Tomaselli, Pedro J.; Marques, Wilson, Jr.; Bhatia, Rohit; Dalal, Ashwin; Srivastava, M. V. Padma; Yareeda, Sireesha; Nalini, Atchayaram; Vishnu, Venugopalan Y.; Thangaraj, Kumarasamy; Straub, Volker; Horvath, Rita; Chinnery, Patrick F.; Pitceathly, Robert D. S.; Muntoni, Francesco; Houlden, Henry; Vandrovcova, Jana; Reilly, Mary M.; Hanna, Michael G.

研究方向

暂未获取到该数据
A
Atchayaram Nalini
H 指数:35论文数:419被引数:4,797
S
Seena Vengalil
H 指数:20论文数:205被引数:1,436
K
Kiran Polavarapu
H 指数:22论文数:183被引数:1,449
M
Mainak Bardhan
H 指数:38论文数:198被引数:2.8万
G
Gautham Arunachal
H 指数:10论文数:113被引数:406
V
Veeramani Preethish‐Kumar
H 指数:21论文数:112被引数:1,185
D
Dipti Baskar
H 指数:6论文数:75被引数:146
A
Akshata Huddar
H 指数:7论文数:46被引数:160
V
Veeramani Preethish Kumar
H 指数:3论文数:30被引数:58
G
Gopikrishnan Unnikrishnan
H 指数:8论文数:47被引数:205