Shoubridge, Cheryl

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., et al. (2009) · Nature Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 603

The genetic landscape of intellectual disability arising from chromosome X

Gécz, J., Shoubridge, C., & Corbett, M. (2009) · Trends in Genetics

Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

Cited by 207

Large Scale Gene Expression Meta-Analysis Reveals Tissue-Specific, Sex-Biased Gene Expression in Humans

Mayne, B. T., Bianco-Miotto, T., Buckberry, S., Breen, J., Clifton, V., Shoubridge, C., & Roberts, C. T. (2016) · Frontiers in Genetics

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and Disorders

Cited by 140

The molecular and phenotypic spectrum of IQSEC 2‐related epilepsy

Zerem, A., Haginoya, K., Lev, D., Blumkin, L., Kivity, S., Linder, I., Shoubridge, C., Palmer, E. E., Field, M., Boyle, J., et al. (2016) · Epilepsia

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 59

Spliceosome Malfunction Causes Neurodevelopmental Disorders with Overlapping Features

Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., et al. (2024) · Journal of Clinical Investigation

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 46

IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy

Shoubridge, C., Harvey, R. J., & Dudding-Byth, T. (2019) · Human Mutation

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 44

Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

Shoubridge, C., Gardner, A., Schwartz, C. E., Hackett, A., Field, M., & Gecz, J. (2012) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 10

A Health Navigator intervention to address the unmet social needs of caregivers of hospitalised children in South Australia: Protocol for a mixed-methods pilot study

Neadley, K. E., Downes, M., Chan, L., Poirier, B., Lynch, J., Boyd, M., & Shoubridge, C. (2025) · Pilot and Feasibility Studies

Child and Adolescent HealthHealth Policy Implementation Science

Cited by 2