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Annapurna Poduri
Annapurna Poduri
Neurology, Boston Children's Hospital, Harvard Medical School
Verified email at childrens.harvard.edu - Homepage
Title
Cited by
Cited by
Year
De novo mutations in epileptic encephalopathies
Nature 501 (7466), 217-221, 2013
9672013
De novo mutations in epileptic encephalopathies
KC Epi, PE Phenome, AS Allen, SF Berkovic, P Cossette, N Delanty, ...
Nature 501 (7466), 217-221, 2013
5582013
Somatic mutation, genomic variation, and neurological disease
A Poduri, GD Evrony, X Cai, CA Walsh
Science 341 (6141), 1237758, 2013
5452013
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
5382012
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
4572013
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
4402012
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
3712009
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
3222019
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
3212014
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
2862014
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
2812014
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
2392015
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
2142015
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
2112016
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
2042013
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
2002018
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
2002017
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
1832014
Epilepsy genetics—past, present, and future
A Poduri, D Lowenstein
Current opinion in genetics & development 21 (3), 325-332, 2011
1692011
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
1582012
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