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S

Seena Vengalil

national institute of mental health & neurosciences - india
H指数:20
被引数:1,452

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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
Finnish Variant of Gelsolin Amyloidosis in a South Indian Family: Clinical, Genetic, Ophthalmological, and Histopathological Findings

芬兰型凝溶胶蛋白淀粉样变性在一个南印度家庭中的临床表现、遗传学、眼科学及组织病理学发现

Annals of Indian Academy of Neurology
IF1.8
2026-01-010
PRE
Keerthipriya, Muddasu S.; Kotambail, Ananthapadmanabha; Rao, Shilpa; John, Roshny; Deekshitha, Madhusudhan; Naik, Chaitra; Baskar, Dipti; Murthy, Vinay; Matada, Roopashree; Chillal, Geethanjali; Janardhan, Dadimudike C.; Vengalil, Seena; Nalini, Atchayaram
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India
JOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
2024-06-292
OAAI
Harikrishna, Ganaraja Valakunja; Padmanabha, Hansashree; Polavarapu, Kiran; Anjanappa, Ram Murthy; Preethish-Kumar, Veeramani; Nandeesh, Bevinahalli Nanjegowda; Vengalil, Seena; Nashi, Saraswati; Baskar, Dipti; Thomas, Aneesha; Bardhan, Mainak; Arunachal, Gautham; Menon, Deepak; Sanka, Sai Bhargava; Manjunath, Nisha; Nalini, Atchayaram
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

研究方向

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A
Atchayaram Nalini
H 指数:35论文数:419被引数:4,820
S
Saraswati Nashi
H 指数:17论文数:164被引数:856
K
Kiran Polavarapu
H 指数:22论文数:183被引数:1,467
M
Mainak Bardhan
H 指数:38论文数:198被引数:2.8万
V
Veeramani Preethish‐Kumar
H 指数:21论文数:112被引数:1,193
D
Dipti Baskar
H 指数:6论文数:75被引数:153
G
Gautham Arunachal
H 指数:10论文数:113被引数:413
A
Akshata Huddar
H 指数:7论文数:46被引数:164
V
Veeramani Preethish Kumar
H 指数:3论文数:30被引数:59
R
Ram Murthy Anjanappa
H 指数:7论文数:28被引数:164