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T. Geetha · SciRah

Researcher profile · Semantic Scholar

T. Geetha

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T. Geetha — researcher profile on SciRah

h-index: 10
Works: 37
Citations: 286

Most-cited papers

Targeted Deep Resequencing Identifies MID2 Mutation for X‐Linked Intellectual Disability with Varied Disease Severity in a Large Kindred from India
T. Geetha, Kulandaimanuvel Antony Michealraj, M. Kabra, Gurjit Kaur +2 more
2014Human Mutation38 citations
Semantic Scholar
Infantile spasms: Etiology, lead time and treatment response in a resource limited setting
Priyanka Surana, J. Symonds, Prabhar Srivastava, T. Geetha +8 more
2020Epilepsy & Behavior Reports32 citations Open access
Semantic Scholar
A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy
T. Geetha, L. Lingappa, Abhishek Ravindra Jain, H. Govindan +4 more
2017Molecular Genetics & Genomic Medicine32 citations Open access
Semantic Scholar
Phenotypic variability in distal acidification defects associated with WDR72 mutations
P. Khandelwal, M. V, V. Mathur, S. Raut +5 more
2020Pediatric nephrology (Berlin, West)27 citations
Semantic Scholar
The Genetic Drivers of Juvenile, Young, and Early‐Onset Parkinson's Disease in India
Shan V. Andrews, P. Kukkle, R. Menon, T. Geetha +32 more
2023medRxiv26 citations Open access
Semantic Scholar
Genome‐Wide Polygenic Score Predicts Large Number of High Risk Individuals in Monogenic Undiagnosed Young Onset Parkinson's Disease Patients from India
P. Kukkle, T. Geetha, R. Chaudhary, J. Sathirapongsasuti +25 more
2022Advances in Biology15 citations
Semantic Scholar
Early-infantile developmental and epileptic encephalopathy: the aetiologies, phenotypic differences and outcomes—a prospective observational study
Pooja Agarwala, Bhuvandeep Narang, T. Geetha, N. Kurwale +8 more
2023Brain Communications14 citations Open access
Semantic Scholar
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis
G. Joshi, Nancy Arthur, T. Geetha, P. Datari +13 more
2023Journal of Medical Genetics13 citations Open access
Semantic Scholar
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C
M. Bardhan, R. Anjanappa, K. Polavarapu, V. Preethish-Kumar +13 more
2022Neurogenetics12 citations
Semantic Scholar
Novel GNAL mutation in an Indian patient with generalized dystonia and response to deep brain stimulation.
S. Pandey, C. Sankhla, V. Ramprasad, T. Geetha
2019Parkinsonism & Related Disorders11 citations
Semantic Scholar
Filaggrin gene polymorphisms in Indian children with atopic dermatitis: A cross-sectional multicentre study.
S. Srinivas, S. Dhar, Aruna Gowdra, A. Saha +6 more
2023Indian Journal of Dermatology, Venereology and Leprology9 citations Open access
Semantic Scholar
Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India
S. Nashi, K. Polavarapu, M. Bardhan, R. Anjanappa +20 more
2022Neurogenetics7 citations
Semantic Scholar
Initial experience and results of a cardiogenetic clinic in a tertiary cardiac care center in India
S. Rajan, P. Chockalingam, N. Koneti, T. Geetha +2 more
2021Annals of Pediatric Cardiology7 citations Open access
Semantic Scholar
Metabolic and Genetic Evaluation in Children with Nephrolithiasis
A. Mandal, P. Khandelwal, T. Geetha, S. Murugan +7 more
2022Indian Journal of Pediatrics6 citations
Semantic Scholar
Oculogyric Crisis Phenotype of Levodopa‐Induced Ocular Dyskinesia
D. Olszewska, R. Shetty, T. Geetha, V. Ramprasad +2 more
2022Movement Disorders Clinical Practice5 citations Open access
Semantic Scholar
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India
Kruti Varshney, Sanjeeva Ghanti Narayanachar, K. Girisha, G. Bhavani +8 more
2022Journal of Medical Genetics5 citations
Semantic Scholar
A Case of Autosomal Dominant Ataxia with Vocal Cord Palsy Attributed to a Mutation in the PRNP Gene
P. Kukkle, T. Geetha, A. Mahadevan, V. Ramprasad
2020Movement Disorders Clinical Practice5 citations Open access
Semantic Scholar
Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia
S. Thakare, A. Lila, V. Keskar, T. Geetha +19 more
2025Nephrology, Dialysis and Transplantation3 citations Open access
Semantic Scholar
Results of comprehensive genetic testing in patients presenting to a multidisciplinary inherited heart disease clinic in India
Priya Chockalingam, T. Geetha, Sandhya Nair, Nivedita Rajakumar +8 more
2024Indian Heart Journal3 citations Open access
Semantic Scholar
A New Variant of an Old Itch: Novel Missense Variant in ABCB4 Presenting with Intractable Pruritus.
S. Shankar, A. Pande, T. Geetha, Karthik Raichurkar +3 more
2021Journal of Clinical and Experimental Hepatology3 citations Open access
Semantic Scholar
Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review
K. Polavarapu, M. Bardhan, R. Anjanappa, S. Vengalil +9 more
2021Journal of Clinical Neurology3 citations Open access
Semantic Scholar
A Rare Neurological Presentation of Familial Hemophagocytic Lymphohistiocytosis
V. Patel, A. Udwadia-Hegde, Omkar Hajirnis, Tarishi Nemani +5 more
2020Journal of Pediatric Neurology online3 citations
Semantic Scholar
Association of Bassoon (BSN) Gene Mutations With Gait and Motor Impairments in Parkinson's Disease
P. Kukkle, Ahamed Panikkaveettil Kaladiyil, T. Geetha, R. Menon +21 more
2025medRxiv2 citations Open access
Semantic Scholar
Our Experiences and Learnings in Diagnosing MODY from Non-Institutional-Based Diabetes Care Clinics
Arunkumar R. Pande, S. Chaubey, Dinesh Kumar, K. P. Chandra +2 more
2024Indian journal of endocrinology and metabolism2 citations Open access
Semantic Scholar
Progressive Supranuclear Palsy in India: Insights from a Large Multicenter Clinical Cohort (Project PAIR‐PSP)
P. Kukkle, Divyani Garg, Jacky Ganguly, Soaham Desai +27 more
2026medRxiv1 citations Open access
Semantic Scholar
Spectrum of Alport syndrome in an Indian cohort
Menka Yadav, Trishla Jadon, Geetika Singh, Kshetrimayum Ghanapriya Devi +8 more
2024Pediatric nephrology (Berlin, West)1 citations
Semantic Scholar
Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy
S. Sanga, Sudipta Chakraborty, M. Bardhan, K. Polavarapu +9 more
2023Scientific Reports1 citations Open access
Semantic Scholar
Reply to: Fatal Familial Insomnia: A Rare Disease with Unique Clinico‐Neurophysiological Features
P. Kukkle, T. Geetha, A. Mahadevan, V. Ramprasad
2020Movement Disorders Clinical Practice1 citations Open access
Semantic Scholar
Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene
Sivasankar Malaichamy, K. Polavarapu, Rachel Thompson, Romane Idoux +27 more
2026Journal of Neurology0 citations
Semantic Scholar
Pediatric Ciliopathy Linked to TULP3 Variant—A Case Report
Mrunmayi Prashant Marathe, Snehavardhan Pandey, Anusha Kulkarni, T. Geetha +1 more
2026Journal of Molecular Pathology0 citations Open access
Semantic Scholar
From genes to pathways: genetic convergence in early-onset Parkinsons disease in India
R. Menon, A. I. Khan, D. Elangovan, R. Kandadai +23 more
2026medRxiv0 citations Open access
Semantic Scholar
Developmental Epileptic Encephalopathy 25—Epilepsy with Amelogenesis Imperfecta: A Case Series with Novel Variants
Sarah Bailur, L. Lingappa, T. Geetha
2025Journal of Academy of Pediatric Neurology0 citations Open access
Semantic Scholar
Abstract 4368624: Genetic Testing Outcomes in Hypertrophic and Dilated Cardiomyopathy: A Five-Year Retrospective Review
Sudharshana Pai, T. Geetha, K. Jacob, Aditi Singhvi +8 more
2025Circulation0 citations
Semantic Scholar
Prospective study to analyze the yield and clinical impact of trio exome sequencing in 137 Indian children with autism spectrum disorder
S. Bajaj, S. Gandhi, T. Geetha, M. Venkata +21 more
2025Journal of Human Genetics0 citations
Semantic Scholar
Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia
Payal Kamdar, T. Geetha, T. Palocaren, M. Kandagaddala +4 more
2023Clinical Genetics0 citations Open access
Semantic Scholar
A novel leaky splice variant in centromere protein J (CENPJ)‐associated Seckel syndrome
Navneesh Yadav, Laxmi Kirola, T. Geetha, K. Mittal +9 more
2022Annals of Human Genetics0 citations
Semantic Scholar
ESTABLISHMENT AND CONDUCT OF CARDIOGENETIC CLINIC
S. Rajan, P. Chockalingam, N. Koneti, T. Geetha +2 more
0 citations
Semantic Scholar

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