关注
Timothy E Green
Timothy E Green
在 student.unimelb.edu.au 的电子邮件经过验证
标题
引用次数
引用次数
年份
Somatic mutation: the hidden genetics of brain malformations and focal epilepsies
Z Ye, L McQuillan, A Poduri, TE Green, N Matsumoto, HC Mefford, ...
Epilepsy research 155, 106161, 2019
642019
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions
TE Green, JE Motelow, MF Bennett, Z Ye, CA Bennett, NG Griffin, ...
Human molecular genetics 31 (14), 2307-2316, 2022
122022
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk
KL Oliver, M Trivisano, SA Mandelstam, A De Dominicis, DI Francis, ...
Epilepsia 64 (5), 1351-1367, 2023
92023
Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome
TE Green, D MacGregor, SM Carden, RV Harris, CA Hewitt, SF Berkovic, ...
Molecular Case Studies 7 (6), a006133, 2021
92021
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome
TE Green, M Schimmel, S Schubert, JR Lemke, MF Bennett, ...
European Journal of Human Genetics 30 (3), 384-388, 2022
82022
Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype
G de Valles‐Ibáñez, MS Hildebrand, M Bahlo, C King, M Coleman, ...
Epilepsia Open 7 (1), 170-180, 2022
62022
Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma
TE Green, A Fujita, N Ghaderi, EL Heinzen, N Matsumoto, KM Klein, ...
Neurobiology of Disease, 106261, 2023
42023
Rare. The importance of research, analysis, reporting and education in ‘solving’the genetic epilepsies: A perspective from the European patient advocacy group for EpiCARE
E Nott, KE Behl, I Brambilla, TE Green, M Lucente, R Vavassori, A Watson, ...
European Journal of Medical Genetics 66 (3), 104680, 2023
22023
UNC13B and focal epilepsy
TE Green, IE Scheffer, SF Berkovic, MS Hildebrand
Brain 145 (3), e10-e12, 2022
22022
Mosaic variants detectable in blood extend the clinicogenetic spectrum of GLI3-related hypothalamic hamartoma
TE Green, MF Bennett, I Immisch, JL Freeman, KM Klein, JF Kerrigan, ...
Genetics in Medicine Open 1 (1), 100810, 2023
12023
Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs
S Bizzotto, EA Stronge, M Talukdar, Q Hu, Z Zhou, AY Huang, BH Chhouk, ...
bioRxiv, 2024.10. 01.615793, 2024
2024
Improving Genetic Diagnostic Yield in Familial and Sporadic Cerebral Cavernous Malformations
N Sikta, S Gooley, TE Green, O Hoeper, T Witkowski, C Bennett, D Francis, ...
2024
Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or PIK3CA-related overgrowth spectrum
TE Green, D Garza, NJ Brown, MG de Silva, MF Bennett, C Tubb, ...
Genetics in Medicine Open 2, 100837, 2024
2024
Mosaic variants detectable in blood extend the clinico-genetic spectrum of GLI3-related hypothalamic hamartoma
MS Hildebrand, TE Green, MF Bennett, KM Klein, F Rosenow, I Immisch, ...
EPILEPSIA 64, 117-118, 2023
2023
Mosaic recurrent MTOR pathogenic variant in a patient with stable sleep related frontal
PW Carney, TE Green, MF Bennet, M Bahlo, IE Scheffer, SF Berkovic, ...
EPILEPSIA 64, 190-191, 2023
2023
WWOX developmental and epileptic encephalopathy (WWOX-DEE): understanding the epileptology and the mortality risk
M Trivisano, KL Oliver, SA Mandelstam, A de Dominicis, D Francis, ...
EPILEPSIA 64, 122-123, 2023
2023
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