I. Andrews

发表

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

J. Rosenfeld, I. Scheffer, H. Mefford, 2016, American journal of human genetics.

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

I. Scheffer, H. Mefford, G. Cioni, 2021, Brain : a journal of neurology.

Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects in UNC13D

J. Trapani, I. Voskoboinik, I. Andrews, 2017, Front. Immunol..

Incidence and Natural History of Pediatric Large Vessel Occlusion Stroke: A Population Study.

R. Goetti, P. Muthusami, R. Webster, 2022, JAMA neurology.

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

I. Scheffer, S. Berkovic, M. Kinali, 2012, Neurology.

Neurogenic pulmonary edema in enterovirus 71 encephalitis is not uniformly fatal but causes severe morbidity in survivors.

M. Nolan, I. Andrews, P. Prager, 2003, Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.

Rare copy number variants are an important cause of epileptic encephalopathies

I. Scheffer, H. Mefford, E. Eichler, 2011, Annals of neurology.

Mutations in KCNT1 cause a spectrum of focal epilepsies

G. Carvill, I. Scheffer, H. Mefford, 2015, Epilepsia.

D‐2‐hydroxyglutaric aciduria: A case with an intermediate phenotype and prenatal diagnosis of two affected fetuses

N. Clarke, M. S. van der Knaap, C. Jakobs, 2003, American journal of medical genetics. Part A.

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

Marcel E Dinger, Tony Roscioli, Ying Zhu, 2018, Molecular genetics & genomic medicine.

A locus for generalized tonic‐clonic seizure susceptibility maps to chromosome 10q25‐q26

R. Elston, J. McNamara, H. Tiwari, 2005, Annals of neurology.

Australian Clinical Consensus Guideline: The diagnosis and acute management of childhood stroke

M. Mackay, M. Fahey, T. Medley, 2018, International journal of stroke : official journal of the International Stroke Society.

Neuronal ceroid lipofuscinosis type 2: an Australian case series

I. Scheffer, S. Mandelstam, M. Ryan, 2020, Journal of paediatrics and child health.

Medically resistant juvenile myasthenia gravis following thymectomy: Role for FDG PET/CT

I. Andrews, M. Cardamone, E. Wegner, 2020 .

Severity scoring in intensive care.

I. Andrews, S. Scott, M. Mchugh, 1986, British medical journal.

Australian Clinical Consensus Guideline: The diagnosis and acute management of childhood stroke

M. Mackay, M. Fahey, T. Medley, 2018, International journal of stroke : official journal of the International Stroke Society.

Association Between Thrombectomy and Functional Outcomes in Pediatric Patients With Acute Ischemic Stroke From Large Vessel Occlusion.

R. Goetti, P. Muthusami, N. Dlamini, 2023, JAMA neurology.