Annapurna Poduri
Annapurna Poduri
Neurology, Boston Children's Hospital, Harvard Medical School
Verified email at
Cited by
Cited by
De novo mutations in the classic epileptic encephalopathies
Epi4K and EPGP Investigators
Nature 501 (7466), 217, 2013
De novo mutations in epileptic encephalopathies
KC Epi, PE Phenome, AS Allen, SF Berkovic, P Cossette, N Delanty, ...
Nature 501 (7466), 217-221, 2013
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain
GD Evrony, X Cai, E Lee, LB Hills, PC Elhosary, HS Lehmann, JJ Parker, ...
Cell 151 (3), 483-496, 2012
Somatic mutation, genomic variation, and neurological disease
A Poduri, GD Evrony, X Cai, CA Walsh
Science 341 (6141), 2013
Using whole-exome sequencing to identify inherited causes of autism
WY Timothy, MH Chahrour, ME Coulter, S Jiralerspong, K Okamura-Ikeda, ...
Neuron 77 (2), 259-273, 2013
Somatic activation of AKT3 causes hemispheric developmental brain malformations
A Poduri, GD Evrony, X Cai, PC Elhosary, R Beroukhim, MK Lehtinen, ...
Neuron 74 (1), 41-48, 2012
Microdeletion/duplication at 15q13. 2q13. 3 among individuals with features of autism and other neuropsychiatric disorders
DT Miller, Y Shen, LA Weiss, J Korn, I Anselm, C Bridgemohan, GF Cox, ...
Journal of medical genetics 46 (4), 242-248, 2009
Somatic mutations in cerebral cortical malformations
SS Jamuar, ATN Lam, M Kircher, AM D’Gama, J Wang, BJ Barry, X Zhang, ...
New England Journal of Medicine 371 (8), 733-743, 2014
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ...
The American Journal of Human Genetics 95 (4), 360-370, 2014
Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain
X Cai, GD Evrony, HS Lehmann, PC Elhosary, BK Mehta, A Poduri, ...
Cell reports 8 (5), 1280-1289, 2014
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia
AM D'Gama, Y Geng, JA Couto, B Martin, EA Boyle, CM LaCoursiere, ...
Annals of neurology 77 (4), 720-725, 2015
Patient-customized oligonucleotide therapy for a rare genetic disease
J Kim, C Hu, C Moufawad El Achkar, LE Black, J Douville, A Larson, ...
New England Journal of Medicine 381 (17), 1644-1652, 2019
SCN2A encephalopathy: a major cause of epilepsy of infancy with migrating focal seizures
KB Howell, JM McMahon, GL Carvill, D Tambunan, MT Mackay, ...
Neurology 85 (11), 958-966, 2015
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients
S Weckhuysen, V Ivanovic, R Hendrickx, R Van Coster, H Hjalgrim, ...
Neurology 81 (19), 1697-1703, 2013
De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies
CT Myers, JM McMahon, AL Schneider, S Petrovski, AS Allen, GL Carvill, ...
The American Journal of Human Genetics 99 (2), 287-298, 2016
Copy number variation plays an important role in clinical epilepsy
H Olson, Y Shen, J Avallone, BR Sheidley, R Pinsky, AM Bergin, GT Berry, ...
Annals of neurology 75 (6), 943-958, 2014
Epilepsy genetics—past, present, and future
A Poduri, D Lowenstein
Current opinion in genetics & development 21 (3), 325-332, 2011
De novo variants in neurodevelopmental disorders with epilepsy
HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ...
Nature genetics 50 (7), 1048-1053, 2018
Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias
AM D’Gama, MB Woodworth, AA Hossain, S Bizzotto, NE Hatem, ...
Cell reports 21 (13), 3754-3766, 2017
Trends in resource utilization by children with neurological impairment in the United States inpatient health care system: a repeat cross-sectional study
JG Berry, A Poduri, JL Bonkowsky, J Zhou, DA Graham, C Welch, ...
PLoS medicine 9 (1), e1001158, 2012
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