T. E. Green

发表

Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome

I. Scheffer, S. Berkovic, A. Penington, 2021, Cold Spring Harbor molecular case studies.

Somatic mutation: The hidden genetics of brain malformations and focal epilepsies

I. Scheffer, H. Mefford, S. Berkovic, 2019, Epilepsy Research.

Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype

I. Scheffer, M. Bahlo, S. Mandelstam, 2021, Epilepsia open.

Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome

S. Berkovic, J. Lemke, M. Hildebrand, 2022, European Journal of Human Genetics.

Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome

S. Berkovic, J. Lemke, M. Hildebrand, 2022, European Journal of Human Genetics.

Rare. The importance of research, analysis, reporting and education in 'solving' the genetic epilepsies: A perspective from the European patient advocacy group for EpiCARE.

B. dalla Bernardina, R. Vavassori, M. Hildebrand, 2023, European journal of medical genetics.

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

I. Scheffer, H. Mefford, M. Bahlo, 2023, Epilepsia.

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.

P. Lockhart, I. Scheffer, J. Motelow, 2022, Human molecular genetics.

Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma

S. Berkovic, E. Heinzen, N. Matsumoto, 2023, Neurobiology of Disease.