Kurian, Manju A.

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Haack, T. B., Hogarth, P., Kruer, M. C., Gregory, A., Wieland, T., Schwarzmayr, T., Graf, E., Sanford, L., Meyer, E., Kara, E., et al. (2012) · The American Journal of Human Genetics

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 360

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

Hayflick, S. J., Kruer, M. C., Gregory, A., Haack, T. B., Kurian, M. A., Houlden, H. H., Anderson, J., Boddaert, N., Sanford, L., Harik, S. I., et al. (2013) · Brain

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 250

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Stödberg, T., McTague, A., Ruiz, A. J., Hirata, H., Zhen, J., Long, P., Farabella, I., Meyer, E., Kawahara, A., Vassallo, G., et al. (2015) · Nature Communications

Epilepsy research and treatmentIon channel regulation and function

Cited by 184

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

McTague, A., Appleton, R., Avula, S., Cross, J. H., King, M. D., Jacques, T. S., Bhate, S., Cronin, A., Curran, A., Desurkar, A., et al. (2013) · Brain

Epilepsy research and treatmentFetal and Pediatric Neurological Disorders

Cited by 170

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Burgess, R., Wang, S., McTague, A., Boysen, K. E., Yang, X., Zeng, Q., Myers, K. A., Rochtus, A., Trivisano, M., Gill, D., et al. (2019) · Annals of Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 141

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

Sadleir, L. G., Mountier, E. I., Gill, D., Davis, S., Joshi, C., DeVile, C., Kurian, M. A., Study, F. T. D., Mandelstam, S., Wirrell, E., et al. (2017) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 131

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

Peall, K. J., Smith, D. J., Kurian, M. A., Wardle, M., Waite, A. J., Hedderly, T., Lin, J.-P., Smith, M., Whone, A., Pall, H., et al. (2013) · Brain

Deep Brain Stimulation and Movement DisordersGenetic Neurodegenerative Diseases

Cited by 116

Climate change and disorders of the nervous system

Sisodiya, S. M., Gulcebi, M. I., Fortunato, F., Mills, J. D., Haynes, E., Bramon, E., Chadwick, P., Ciccarelli, O., David, A. S., De Meyer, K., et al. (2024) · The Lancet Neurology

Climate Change and Health ImpactsHealth, Environment, Cognitive Aging

Cited by 105

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy

Papandreou, A., McTague, A., Trump, N., Ambegaonkar, G., Ngoh, A., Meyer, E., Scott, R. H., & Kurian, M. A. (2016) · Developmental Medicine & Child Neurology

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 79

Genome Editing in iPSC-Based Neural Systems: From Disease Models to Future Therapeutic Strategies

McTague, A., Rossignoli, G., Ferrini, A., Barral, S., & Kurian, M. A. (2021) · Frontiers in Genome Editing

CRISPR and Genetic EngineeringPluripotent Stem Cells Research

Cited by 67

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H. E., Bakker, D. P., Barwick, K., Bonfert, M. V., Bönnemann, C. G., Brilstra, E. H., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 47

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

Sanchis-Juan, A., Megy, K., Stephens, J., Armirola Ricaurte, C., Dewhurst, E., Low, K., French, C. E., Grozeva, D., Stirrups, K., Erwood, M., et al. (2023) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalities

Cited by 24

A review of psychiatric co-morbidity described in genetic and immune mediated movement disorders

Peall, K. J., Lorentzos, M. S., Heyman, I., Tijssen, M. A. J., Owen, M. J., Dale, R. C., & Kurian, M. A. (2017) · Neuroscience & Biobehavioral Reviews

Parkinson's Disease Mechanisms and TreatmentsDeep Brain Stimulation and Movement Disorders

Cited by 14