Cheryl A Shoubridge (Cheryl Shoubridge, C Shoubridge)

ResearcherID Scopus Author ID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 9

Top Venues

Human mutation

American journal of medical genetics. Part A

PloS one

Neurology

University of Adelaide Faculty of Health Sciences

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Adelaide Faculty of Health Sciences Jan 01 2013

Australia

Head, Intellectual Disability :: Adelaide School of Medicine

Publications

Cheryl A Shoubridge, Tracy Dudding-Byth, Laurent Pasquier, Himanshu Goel, Patrick Yap, Vivienne McConnell
IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain. Clinical genetics 102 (1) (2022)
Emma Elizabeth Palmer, Rani Sachdev, Rebecca Macintosh, Uirá Souto Melo, Stefan Mundlos, Sarah Righetti, Tejaswi Kandula, Andre E Minoche, Clare Puttick, Velimir Gayevskiy, Luke Hesson, Senel Idrisoglu, Cheryl A Shoubridge, Monica Hong Ngoc Thai, Ryan L Davis, Alexander P Drew, Hugo Sampaio, Peter Ian Andrews, John A Lawson, Michael Cardamone, David Mowat, Alison Colley, Sarah Kummerfeld, Marcel E Dinger, Mark J Cowley, Tony Roscioli, Ann M E Bye, Edwin Kirk
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies. Neurology 96 (13) (2021)
Michael J Field, Raman Kumar, Anna Hackett, Sayaka Kayumi, Cheryl A Shoubridge, Lisa J Ewans, Atma M Ivancevic, Tracy Dudding-Byth, Renée Carroll, Thessa Kroes, Alison E Gardner, Patricia Sullivan, Thuong T Ha, Charles E Schwartz, Mark J Cowley, Marcel E Dinger, Elizabeth E Palmer, Louise Christie, Marie Shaw, Tony Roscioli, Jozef Gecz, Mark A Corbett
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability. Human mutation 42 (7) (2021)
Monica H N Thai, Alison Gardner, Laura Redpath, Tessa Mattiske, Oliver Dearsley, Marie Shaw, Anneke T Vulto-van Silfhout, Rolph Pfundt, Joanne Dixon, Julie McGaughran, Luis A Pérez-Jurado, Jozef Gecz, Cheryl A Shoubridge
Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance. Human mutation 41 (8) (2020)
Cheryl A Shoubridge, Matilda Jackson, Bronwyn Grinton, Samuel F Berkovic, Ingrid E Scheffer, Shannon Huskins, Alison Thomas, Tyson Ware
Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy. American journal of medical genetics. Part A 179 (8) (2019)
Matilda R Jackson, Karagh E Loring, Claire C Homan, Monica Hn Thai, Laura Määttänen, Maria Arvio, Irma Jarvela, Marie Shaw, Alison Gardner, Jozef Gecz, Cheryl A Shoubridge
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females. Life science alliance 2 (4) (2019)
Cheryl A Shoubridge, Robert J Harvey, Tracy Dudding
IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy. Human mutation 40 (1) (2018)
Tessa Mattiske, May H Tan, Oliver Dearsley, Desiree Cloosterman, Charles S Hii, Jozef Gecz, Cheryl A Shoubridge
Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor. PloS one 13 (11) (2018)
S J Hinze, M R Jackson, S Lie, L Jolly, M Field, S C Barry, R J Harvey, Cheryl A Shoubridge
Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis. Translational psychiatry 7 (5) (2017)

Cheryl A Shoubridge.css-eqlu8i{font-size:small;padding-left:4px;} (Cheryl Shoubridge, C Shoubridge)

Publication Activity (10 Years)

Top Topics

Top Venues

Cheryl A Shoubridge (Cheryl Shoubridge, C Shoubridge)