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V

Veeramani Preethish-Kumar

department of neurology
H指数:21
被引数:1,185

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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
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
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
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
NATURE COMMUNICATIONS
IF15.7
2023-02-2310
OAAI
Van Haute, Lindsey; O'Connor, Emily; Diaz-Maldonado, Hector; Munro, Benjamin; Polavarapu, Kiran; Hock, Daniella H.; Arunachal, Gautham; Athanasiou-Fragkouli, Alkyoni; Bardhan, Mainak; Barth, Magalie; Bonneau, Dominique; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Caruana, Nikeisha J.; Dominik, Natalia; Goel, Himanshu; Helman, Guy; Houlden, Henry; Lenaers, Guy; Mention, Karine; Murphy, David; Nandeesh, Bevinahalli; Olimpio, Catarina; Powell, Christopher A.; Preethish-Kumar, Veeramani; Procaccio, Vincent; Rius, Rocio; Rebelo-Guiomar, Pedro; Simons, Cas; Vengalil, Seena; Zaki, Maha S.; Ziegler, Alban; Thorburn, David R.; Stroud, David A.; Maroofian, Reza; Christodoulou, John; Gustafsson, Claes; Nalini, Atchayaram; Lochmueller, Hanns; Minczuk, Michal; Horvath, Rita
PET-MRI in idiopathic inflammatory myositis: a comparative study of clinical and immunological markers with imaging findings
NEUROLOGICAL RESEARCH AND PRACTICE
IF3.2
2022-10-107
OAAI
Girija, Manu Santhappan; Tiwari, Ravindu; Vengalil, Seena; Nashi, Saraswati; Preethish-Kumar, Veeramani; Polavarapu, Kiran; Kulanthaivelu, Karthik; Arbind, Arpana; Bardhan, Mainak; Huddar, Akshata; Unnikrishnan, Gopikrishnan; Kiran, Valasani Ravi; Chawla, Tanushree; Nandeesh, Bevinahalli; Nagaraj, Chandana; Nalini, Atchayaram
Altered REM sleep architecture in patients with Myotonic dystrophy type 1: is related to sleep apnea?
SLEEP MEDICINE
IF3.4
2021-03-013
PREAI
Seshagiri, Doniparthi Venkata; Huddar, Akshata; Nashi, Saraswati; Ray, Somdattaa; Ramaswamy, Palanyswamy; Oommen, Abel Thomas; Chawla, Tanushree; Yadav, Srikanth; Annapureddy, Jagadish; Jankar, Rahul; Polavarapu, Kiran; Vengalil, Seena; Preethish-Kumar, Veeramani; Warrier, Manjusha; Thomas, Priya Treesa; Shingavi, Leena; Arunachal, Gautham; Yadav, Ravi; Nalini, Atchayaram

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
K
Kiran Polavarapu
H 指数:22论文数:183被引数:1,449
S
Seena Vengalil
H 指数:20论文数:205被引数:1,436
S
Saraswati Nashi
H 指数:17论文数:164被引数:849
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
D
Dipti Baskar
H 指数:6论文数:75被引数:146
B
Bevinahalli N. Nandeesh
H 指数:12论文数:56被引数:503
H
Hanns Lochmüller
H 指数:100论文数:1,567被引数:3.8万
R
Ram Murthy Anjanappa
H 指数:7论文数:28被引数:160