Andrew J. Kornberg

Royal Children's Hospital — Australia

Biochemistry, Genetics and Molecular Biology · Life Sciences

46h-index8.9kcitations174works2.32yr avg
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Research Topics

Muscle Physiology and Disorders(48), Peripheral Neuropathies and Disorders(34), Multiple Sclerosis Research Studies(25), Neurogenetic and Muscular Disorders Research(20), Hereditary Neurological Disorders(17)

Publications172 total

Sleep and Fatigue in Children and Adolescents With Multiple Sclerosis
Journal of Child Neurology·2025
Neuroblastic Tumor Causing Toe-Walking Without Mechanical Compression of the Spinal Cord or Nerve Roots
Pediatric Neurology·2025Open Access
Survival in Duchenne muscular dystrophy in Australia: a 50 year retrospective cohort study
The Lancet Regional Health - Western Pacific·2025· 2 citedOpen Access
Sleep and Fatigue in Children and Adolescents with Multiple Sclerosis
SSRN Electronic Journal·2025Open Access
A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study
The Lancet Regional Health - Western Pacific·2024· 1 citedOpen Access
Diffusion-Weighted Magnetic Resonance Imaging (dMRI) and Cochlear Implant Outcomes in Axonal Auditory Neuropathy: A Case Report
Journal of Clinical Medicine·2024· 1 citedOpen Access
Genome and <scp>RNA</scp> sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
Annals of Clinical and Translational Neurology·2024· 13 citedOpen Access
Pilot study of a virtual weight management program for Duchenne muscular dystrophy
Muscle & Nerve·2024· 1 citedOpen Access
Exploring caregivers' attitudes and beliefs about nutrition and weight management for young people with Duchenne muscular dystrophy
Muscle & Nerve·2024· 3 citedOpen Access
Multiple cranial neuropathies in an adolescent with myelin‐oligodendrocyte glycoprotein antibody‐associated disease
Journal of Paediatrics and Child Health·2023
Transcriptome and Genome Analysis Uncovers a <i>DMD</i> Structural Variant
Neurology Genetics·2023· 6 citedOpen Access
A cryptic pathogenic <scp><i>NDUFV1</i></scp> variant identified by <scp>RNA</scp>‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes
American Journal of Medical Genetics Part A·2023· 7 citedOpen Access
Geographic Expansion of Japanese Encephalitis Virus to Australia: Neuroinflammatory Sequelae and Consideration of Immunomodulation
The Pediatric Infectious Disease Journal·2023· 3 cited
Complications of Influenza A or B Virus Infection in Individuals With <i>SCN1A</i> -Positive Dravet Syndrome
Neurology·2022· 3 cited
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services
European Journal of Medical Genetics·2022· 4 citedOpen Access
Delivering multidisciplinary neuromuscular care for children via telehealth
Muscle & Nerve·2022· 14 citedOpen Access
MRI Patterns Distinguish AQP4 Antibody Positive Neuromyelitis Optica Spectrum Disorder From Multiple Sclerosis
Frontiers in Neurology·2021· 26 citedOpen Access
Rasch Analysis of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales Administered to Patients With Duchenne Muscular Dystrophy
Value in Health·2021· 11 citedOpen Access
Pathogenic variants in nucleoporin <i>TPR (translocated promoter region, nuclear basket protein)</i> cause severe intellectual disability in humans
Human Molecular Genetics·2021· 12 citedOpen Access
NMOSD and MS prevalence in the Indigenous populations of Australia and New Zealand
Journal of Neurology·2021· 11 cited
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Frequent Co-authors

Monique M. Ryan(17), Alan Pestronk(10), Anne M. Connolly(9), Craig M. McDonald(8), Erik Henricson(8), Avital Cnaan(8), Lloyd K. Shield(7), Richard T. Abresch(7), Tina Duong(7), Paula R. Clemens(7), Yoram Nevo(7), Kathryn N. North(7), John Day(6), Eppie M. Yiu(6), Nanette C. Joyce(5), Heather Gordish‐Dressman(5), Laura McAdam(5), Jean K. Mah(5), M. Tulinius(5), Lauren P. Morgenroth(5)