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A. Poduri · SciRah

Researcher profile · Semantic Scholar

A. Poduri

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A. Poduri — researcher profile on SciRah

h-index: 64
Works: 287
Citations: 16K

Most-cited papers

Genetic testing for the epilepsies: A systematic review
B. Sheidley, Jennifer R. Malinowski, A. Bergner, Louise Bier +5 more
2021Epilepsia157 citations
Semantic Scholar
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
K. Johannesen, Yuan-Yuan Liu, M. Koko, C. E. Gjerulfsen +124 more
2021medRxiv132 citations Open access
Semantic Scholar
Current practice in diagnostic genetic testing of the epilepsies
Ilona Krey, K. Platzer, A. Esterhuizen, S. Berkovic +12 more
2022Epileptic disorders101 citations Open access
Semantic Scholar
Neocortical development and epilepsy: insights from focal cortical dysplasia and brain tumours.
I. Blümcke, S. Budday, A. Poduri, Dennis Lal +2 more
2021Lancet Neurology81 citations
Semantic Scholar
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis.
Siddharth Srivastava, Sara A. Lewis, J. Cohen, Bo Zhang +5 more
2022JAMA Neurology78 citations Open access
Semantic Scholar
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy
S. Khoshkhoo, Yilan Wang, Y. Chahine, E. Erson-Omay +37 more
2023JAMA Neurology68 citations Open access
Semantic Scholar
Mendelian etiologies identified with whole exome sequencing in cerebral palsy
M. Chopra, D. Gable, Jamie A. Love-Nichols, Alexa Tsao +35 more
2022Annals of Clinical and Translational Neurology65 citations Open access
Semantic Scholar
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study
A. D'Gama, Sarah Mulhern, B. Sheidley, F. Boodhoo +34 more
2023Lancet Neurology64 citations Open access
Semantic Scholar
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
Joshua E. Motelow, G. Povysil, R. Dhindsa, Kate E. Stanley +251 more
2021American Journal of Human Genetics53 citations Open access
Semantic Scholar
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Caroline Nava, B. Cogné, A. Santini, E. Leitão +260 more
2024Nature Genetics49 citations Open access
Semantic Scholar
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
Heather E. Olson, Carolyn Daniels, Isa Haviland, L. Swanson +15 more
2021Journal of Neurodevelopmental Disorders46 citations Open access
Semantic Scholar
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Si-Wei Chen, B. Abou-Khalil, Z. Afawi, Q. Z. Ali +332 more
2023medRxiv44 citations Open access
Semantic Scholar
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy
H. Koh, Lacey Smith, K. Wiltrout, Archana Podury +20 more
2023JAMA Network Open41 citations Open access
Semantic Scholar
Assessing the landscape of STXBP1-related disorders in 534 individuals
J. Xian, S. Parthasarathy, S. Ruggiero, G. Balagura +50 more
2021Brain : a journal of neurology40 citations Open access
Semantic Scholar
KCNQ2‐DEE: developmental or epileptic encephalopathy?
A. Berg, S. Mahida, A. Poduri
2021Annals of Clinical and Translational Neurology40 citations Open access
Semantic Scholar
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene
C. Barba, I. Blümcke, M. Winawer, T. Hartlieb +31 more
2022Neurology39 citations Open access
Semantic Scholar
Precision Therapy for Epilepsy Related to Brain Malformations
A. D'Gama, A. Poduri
2021Neurotherapeutics38 citations Open access
Semantic Scholar
Brain somatic mosaicism in epilepsy: Bringing results Back to the clinic.
A. D'Gama, A. Poduri
2023Neurobiology of Disease35 citations Open access
Semantic Scholar
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy
Min Ni, B. Afroze, Chao Xing, Chunxiao Pan +14 more
2021Genetics in Medicine35 citations Open access
Semantic Scholar
Infantile spasms: Assessing the diagnostic yield of an institutional guideline and the impact of etiology on long‐term treatment response
N. Chourasia, Christopher J. Yuskaitis, M. Libenson, A. Bergin +4 more
2022Epilepsia33 citations
Semantic Scholar
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
Shyam K. Akula, Allen Y. Chen, J. E. Neil, Diane D. Shao +31 more
2023JAMA Neurology31 citations Open access
Semantic Scholar
CSNK2B: a broad spectrum of neurodevelopmental disability and epilepsy severity
M. Ernst, E. Baugh, Amanda L Thomas, Louise Bier +53 more
2021Epilepsia30 citations Open access
Semantic Scholar
Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies
Isa Haviland, Carolyn Daniels, C. Greene, J. Drew +9 more
2022Pediatric Neurology29 citations Open access
Semantic Scholar
Diverse genetic causes of polymicrogyria with epilepsy
A. Allen, V. Aggarwal, S. Berkovic, P. Cossette +75 more
2021Epilepsia26 citations Open access
Semantic Scholar
Epigenetics explained: a topic "primer" for the epilepsy community by the ILAE Genetics/Epigenetics Task Force.
K. Kobow, C. Reid, E. V. van Vliet, A. Becker +8 more
2020Epileptic disorders26 citations Open access
Semantic Scholar
Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism
K. Wiltrout, Elise Brimble, A. Poduri
2024Epilepsia24 citations Open access
Semantic Scholar
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Dulcie Lai, Meethila Gade, E. Yang, H. Koh +21 more
2022Brain : a journal of neurology23 citations Open access
Semantic Scholar
Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathy
Devon Knight, S. Mahida, Mckenna Kelly, A. Poduri +1 more
2023Epilepsia21 citations
Semantic Scholar
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2
Abbe Lai, Aubrie Soucy, C. E. El Achkar, A. Barkovich +19 more
2022Genetics in Medicine21 citations Open access
Semantic Scholar
Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure
Heather E. Olson, Julia G Costantini, L. Swanson, W. Kaufmann +5 more
2021Developmental Medicine & Child Neurology21 citations Open access
Semantic Scholar
Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
M. Scala, Saskia B. Wortmann, N. Kaya, M. Stellingwerff +71 more
2022Human Mutation20 citations Open access
Semantic Scholar
Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafish
B. Robens, Xin-Zhu Yang, C. McGraw, Laura H. Turner +4 more
2022Neurobiology of Disease20 citations Open access
Semantic Scholar
Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy
Katherine E. Miller, Adithe Rivaldi, Noriyuki Shinagawa, Sahibjot Sran +30 more
2023Nature Genetics19 citations Open access
Semantic Scholar
Genetic Factors Underlying Sudden Infant Death Syndrome
Christine Keywan, A. Poduri, Richard D. Goldstein, I. Holm
2021The Application of Clinical Genetics19 citations Open access
Semantic Scholar
Epilepsy Benchmarks Area IV: Limit or Prevent Adverse Consequence of Seizures and Their Treatment Across the Life Span
Jana E. Jones, Miya R. Asato, Mesha-Gay Brown, J. Doss +6 more
2020Epilepsy Currents17 citations Open access
Semantic Scholar
Clinical, biochemical and genetic characteristics of MOGS-CDG, a rare congenital disorder of glycosylation
S. Shimada, B. Ng, Amy L. White, K. Nickander +32 more
2022Journal of Medical Genetics16 citations Open access
Semantic Scholar
Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability
C. M. LaCoursiere, Jeremy F. P. Ullmann, H. Y. Koh, Laura Turner +6 more
2024iScience15 citations Open access
Semantic Scholar
N‐of‐1 trials in epilepsy: A systematic review and lessons paving the way forward
V. Defelippe, E. Brilstra, W. Otte, Helen J Cross +8 more
2024Epilepsia15 citations Open access
Semantic Scholar
Child Neurology: Initial Presentation of PCDH19-Related Epilepsy With New-Onset Refractory Status Epilepticus and Treatment With Anakinra
Robin T. Varughese, Shefali N. Karkare, A. Poduri, S. Kothare
2022Neurology15 citations Open access
Semantic Scholar
Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings
C. McGraw, S. Mahida, P. Jayakar, H. Koh +8 more
2021Annals of Clinical and Translational Neurology15 citations Open access
Semantic Scholar
Toward representative genomic research: the children’s rare disease cohorts experience
Zoë Frazier, Eurnestine Brown, S. Rockowitz, Ted Lee +7 more
2023Therapeutic Advances in Rare Disease14 citations Open access
Semantic Scholar
Epilepsy Benchmarks Area II: Prevent Epilepsy and Its Progression
D. Binder, D. Boison, T. Eid, Wayne Frankel +5 more
2020Epilepsy Currents14 citations Open access
Semantic Scholar
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease
K. Howell, S. White, A. Mctague, A. D'Gama +19 more
2025npj Genomic Medicine13 citations Open access
Semantic Scholar
CDKL5 deficiency disorder and other infantile-onset genetic epilepsies
Carolyn Daniels, C. Greene, Lacey Smith, Elia Pestana-Knight +5 more
2023Developmental Medicine & Child Neurology11 citations Open access
Semantic Scholar
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes
Courtney E. French, Nancy C. Andrews, A. Beggs, Philip M. Boone +33 more
2024npj Genomic Medicine10 citations Open access
Semantic Scholar
Epileptic Spasms in CDKL5 Deficiency Disorder: Delayed Treatment and Poor Response to First-line Therapies
Heather E. Olson, S. Demarest, Elia Pestana-Knight, A. Moosa +18 more
2023Epilepsia10 citations
Semantic Scholar
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology
H. W. Phillips, A. D'Gama, Yilan Wang, Y. Chahine +13 more
2023Neurology: Genetics10 citations Open access
Semantic Scholar
PIGN encephalopathy: Characterizing the epileptology
A. Bayat, Guillem Valles-Ibáñez, M. Pendziwiat, A. Knaus +65 more
2022Epilepsia10 citations Open access
Semantic Scholar
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration
M. Dentici, V. Alesi, M. Quinodoz, B. Robens +12 more
2021Journal of Medical Genetics10 citations
Semantic Scholar
Early diagnosis and experimental treatment with fenfluramine via the Investigational New Drug mechanism in a boy with Dravet Syndrome and recurrent status epilepticus
Sara K. Trowbridge, A. Poduri, Heather E. Olson
2021Epileptic disorders10 citations Open access
Semantic Scholar

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