Poduri, Annapurna

Somatic mutation, genomic variation, and neurological disease

Poduri, A., Evrony, G. D., Cai, X., & Walsh, C. A. (2013) · Science

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 584

Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain

Evrony, G. D., Cai, X., Lee, E., Hills, L. B., Elhosary, P. C., Lehmann, H. S., Parker, J. J., Atabay, K. D., Gilmore, E. C., Poduri, A., et al. (2012) · Cell

Genomic variations and chromosomal abnormalitiesChromosomal and Genetic Variations

Cited by 548

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

The International League Against Epilepsy Consortium on Complex Epilepsies, Abou-Khalil, B., Auce, P., Avbersek, A., Bahlo, M., Balding, D. J., Bast, T., Baum, L., Becker, A. J., Becker, F., et al. (2018) · Nature Communications

Epilepsy research and treatmentGenetic Associations and Epidemiology

Cited by 482

Somatic activation of AKT3 causes hemispheric developmental brain malformations

Poduri, A., Evrony, G. D., Cai, X., Elhosary, P. C., Beroukhim, R., Lehtinen, M. K., Hills, L. B., Heinzen, E. L., Hill, A., Hill, R. S., et al. (2012) · Neuron

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 478

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Yu, T. W., Chahrour, M. H., Coulter, M. E., Jiralerspong, S., Okamura-Ikeda, K., Ataman, B., Schmitz-Abe, K., Harmin, D. A., Adli, M., Malik, A. N., et al. (2013) · Neuron

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 442

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Miller, D. T., Shen, Y., Weiss, L. A., Korn, J., Anselm, I., Bridgemohan, C., Cox, G. F., Dickinson, H., Gentile, J., Harris, D. J., et al. (2009) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 427

Somatic mutations in cerebral cortical malformations

Jamuar, S. S., Lam, A.-T. N., Kircher, M., D’Gama, A. M., Wang, J., Barry, B. J., Zhang, X., Hill, R. S., Partlow, J. N., Rozzo, A., et al. (2014) · New England Journal of Medicine

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

Cited by 392

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain

Cai, X., Evrony, G. D., Lehmann, H. S., Elhosary, P. C., Mehta, B. K., Poduri, A., & Walsh, C. A. (2014) · Cell Reports

Genomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics

Cited by 318

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Myers, C. T., McMahon, J. M., Schneider, A. L., Petrovski, S., Allen, A. S., Carvill, G. L., Zemel, M., Saykally, J. E., LaCroix, A. J., Heinzen, E. L., et al. (2016) · The American Journal of Human Genetics

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 287

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

Howell, K. B., McMahon, J. M., Carvill, G. L., Tambunan, D., Mackay, M. T., Rodriguez-Casero, V., Webster, R., Clark, D., Freeman, J. L., Calvert, S., et al. (2015) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 255

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Stödberg, T., McTague, A., Ruiz, A. J., Hirata, H., Zhen, J., Long, P., Farabella, I., Meyer, E., Kawahara, A., Vassallo, G., et al. (2015) · Nature Communications

Epilepsy research and treatmentIon channel regulation and function

Cited by 184

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

McTague, A., Appleton, R., Avula, S., Cross, J. H., King, M. D., Jacques, T. S., Bhate, S., Cronin, A., Curran, A., Desurkar, A., et al. (2013) · Brain

Epilepsy research and treatmentFetal and Pediatric Neurological Disorders

Cited by 170

Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

Smith, R. S., Kenny, C. J., Ganesh, V., Jang, A., Borges-Monroy, R., Partlow, J. N., Hill, R. S., Shin, T., Chen, A. Y., Doan, R. N., et al. (2018) · Neuron

Ion channel regulation and functionEpilepsy research and treatment

Cited by 160

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., et al. (2022) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 147

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Burgess, R., Wang, S., McTague, A., Boysen, K. E., Yang, X., Zeng, Q., Myers, K. A., Rochtus, A., Trivisano, M., Gill, D., et al. (2019) · Annals of Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 141

Assessing the landscape of STXBP1 -related disorders in 534 individuals

Xian, J., Parthasarathy, S., Ruggiero, S. M., Balagura, G., Fitch, E., Helbig, K., Gan, J., Ganesan, S., Kaufman, M. C., Ellis, C. A., et al. (2022) · Brain

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 130

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

D'Gama, A. M., Mulhern, S., Sheidley, B. R., Boodhoo, F., Buts, S., Chandler, N. J., Cobb, J., Curtis, M., Higginbotham, E. J., Holland, J., et al. (2023) · The Lancet Neurology

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 80

Quantifying the effects of 16p11.2 copy number variants on brain structure: a multisite genetic-first study

Martin-Brevet, S., Rodríguez-Herreros, B., Nielsen, J. A., Moreau, C., Modenato, C., Maillard, A. M., Pain, A., Richetin, S., Jønch, A. E., Qureshi, A. Y., et al. (2018) · Biological Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 75

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain

Cai, X., Evrony, G. D., Lehmann, H. S., Elhosary, P. C., Mehta, B. K., Poduri, A., & Walsh, C. A. (2015) · Cell Reports

Genomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics

Cited by 42

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

Akula, S. K., Chen, A. Y., Neil, J. E., Shao, D. D., Mo, A., Hylton, N. K., DiTroia, S., Ganesh, V. S., Smith, R. S., O’Kane, K., et al. (2023) · JAMA Neurology

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

Cited by 37