Anu Venkat

发表

De novo mutations in the classic epileptic encephalopathies

Michael R. Johnson, I. Scheffer, H. Mefford, 2013, Nature.

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

Michael R. Johnson, I. Scheffer, H. Mefford, 2014, American journal of human genetics.

The Epilepsy Phenome/Genome Project

I. Scheffer, N. Risch, R. Kuzniecky, 2013, Clinical trials.

Phenotypic analysis of 303 multiplex families with common epilepsies

I. Scheffer, H. Mefford, D. Goldstein, 2017, Brain : a journal of neurology.

Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

Michael R. Johnson, B. Coe, Niklas Krumm, 2015, Annals of neurology.

Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

Michael R. Johnson, I. Scheffer, H. Mefford, 2017 .

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

Michael R. Johnson, I. Scheffer, H. Mefford, 2017, The Lancet Neurology.

KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine

I. Scheffer, D. Goldstein, C. Reid, 2014, Annals of neurology.

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

Marni J. Falk, J. Rosenfeld, L. Shaffer, 2013, neurogenetics.

Diverse genetic causes of polymicrogyria with epilepsy

I. Scheffer, H. Mefford, E. Eichler, 2021, Epilepsia.

Internship report and study concerning the threats and opportunities posed by additive manufacturing to moulding industry

Anurag Ayyagari Venkat, Anu Venkat, 2016 .

Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies

I. Scheffer, H. Mefford, D. Goldstein, 2019, Epilepsia.

Ultra-rare genetic variation in the common epilepsies: a case- 1 control sequencing study

Anu Venkat, Judith L. Z. Weisenberg, M. Winawer, 2017 .

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.

H. Mefford, P. May, R. Krause, 2017, American journal of human genetics.

De novo mutations in the classic epileptic encephalopathies

Michael R. Johnson, I. Scheffer, H. Mefford, 2013, Nature.