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2017 | 1 |
2022 | 3 |
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Page 1
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Hum Mol Genet. 2022 Jul 21;31(14):2307-2316. doi: 10.1093/hmg/ddab366.
Hum Mol Genet. 2022.
PMID: 35137044
Free PMC article.
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Scheffer IE, Bennett CA, Gill D, de Silva MG, Boggs K, Marum J, Baker N; Australian Genomics DEE Flagship; Palmer EE, Howell KB.
Scheffer IE, et al. Among authors: bennett ca.
Dev Med Child Neurol. 2023 Jan;65(1):50-57. doi: 10.1111/dmcn.15308. Epub 2022 Jun 14.
Dev Med Child Neurol. 2023.
PMID: 35701389
Free PMC article.
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Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
Gozzelino L, Kochlamazashvili G, Baldassari S, Mackintosh AI, Licchetta L, Iovino E, Liu YC, Bennett CA, Bennett MF, Damiano JA, Zsurka G, Marconi C, Giangregorio T, Magini P, Kuijpers M, Maritzen T, Norata GD, Baulac S, Canafoglia L, Seri M, Tinuper P, Scheffer IE, Bahlo M, Berkovic SF, Hildebrand MS, Kunz WS, Giordano L, Bisulli F, Martini M, Haucke V, Hirsch E, Pippucci T.
Gozzelino L, et al. Among authors: bennett ca.
Brain. 2022 Jul 29;145(7):2313-2331. doi: 10.1093/brain/awac082.
Brain. 2022.
PMID: 35786744
Free PMC article.
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ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA, Petrovski S, Oliver KL, Berkovic SF.
Bennett CA, et al.
Neurol Genet. 2017 Jul 6;3(4):e163. doi: 10.1212/NXG.0000000000000163. eCollection 2017 Aug.
Neurol Genet. 2017.
PMID: 28717674
Free PMC article.
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