Annapurna Poduri
Annapurna Poduri
Neurology, Boston Children's Hospital, Harvard Medical School
childrens.harvard.edu üzerinde doğrulanmış e-posta adresine sahip
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
De novo mutations in epileptic encephalopathies
AS Allen, SF Berkovic, P Cossette, N Delanty, D Dlugos, EE Eichler, ...
Nature 501 (7466), 217-221, 2013
7732013
De novo mutations in epileptic encephalopathies
KC Epi, PE Phenome, AS Allen, SF Berkovic, P Cossette, N Delanty, ...
Nature 501 (7466), 217-221, 2013
4452013
Somatic mutation, genomic variation, and neurological disease
A Poduri, GD Evrony, X Cai, CA Walsh
Science 341 (6141), 2013
4392013
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
4352012
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
3912013
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
3522012
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
3322009
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
2502014
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
2172014
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
1962014
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
1792015
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
1562013
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
1482015
Epilepsy genetics—past, present, and future
A Poduri, D Lowenstein
Current opinion in genetics & development 21 (3), 325-332, 2011
1432011
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
1412014
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
1212016
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures
X Zhang, J Ling, G Barcia, L Jing, J Wu, BJ Barry, GH Mochida, RS Hill, ...
The American Journal of Human Genetics 94 (4), 547-558, 2014
1102014
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 Med 9 (1), e1001158, 2012
1102012
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
1042018
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures
T Stödberg, A McTague, AJ Ruiz, H Hirata, J Zhen, P Long, I Farabella, ...
Nature communications 6 (1), 1-9, 2015
1022015
Sistem, işlemi şu anda gerçekleştiremiyor. Daha sonra yeniden deneyin.
Makaleler 1–20