Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities
Gold, Wendy A, Krishnarajy, Rahul, Ellaway, Carolyn, Christodoulou, John
Published in ACS chemical neuroscience (21.02.2018)
Published in ACS chemical neuroscience (21.02.2018)
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Maternal acute and chronic inflammation in pregnancy is associated with common neurodevelopmental disorders: a systematic review
Han, Velda X, Patel, Shrujna, Jones, Hannah F, Nielsen, Timothy C, Mohammad, Shekeeb S, Hofer, Markus J, Gold, Wendy, Brilot, Fabienne, Lain, Samantha J, Nassar, Natasha, Dale, Russell C
Published in Translational psychiatry (21.01.2021)
Published in Translational psychiatry (21.01.2021)
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Anti-Semaphorin 4D Rescues Motor, Cognitive, and Respiratory Phenotypes in a Rett Syndrome Mouse Model
Mao, Yilin, Evans, Elizabeth, Mishra, Vikas, Balch, Leslie, Eberhardt, Allison, Zauderer, Maurice, Gold, Wendy
Published in International journal of molecular sciences (01.09.2021)
Published in International journal of molecular sciences (01.09.2021)
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Journal Article
Pre-clinical Investigation of Rett Syndrome Using Human Stem Cell-Based Disease Models
Haase, Florencia D, Coorey, Bronte, Riley, Lisa, Cantrill, Laurence C, Tam, Patrick P L, Gold, Wendy A
Published in Frontiers in neuroscience (25.08.2021)
Published in Frontiers in neuroscience (25.08.2021)
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Journal Article
Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction
Nafisinia, Michael, Riley, Lisa G, Gold, Wendy A, Bhattacharya, Kaustuv, Broderick, Carolyn R, Thorburn, David R, Simons, Cas, Christodoulou, John
Published in PloS one (08.06.2017)
Published in PloS one (08.06.2017)
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Genome‐wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets
Krishnaraj, Rahul, Haase, Florencia, Coorey, Bronte, Luca, Edward J, Wong, Ingar, Boyling, Alexandra, Ellaway, Carolyn, Christodoulou, John, Gold, Wendy A.
Published in Human mutation (01.12.2019)
Published in Human mutation (01.12.2019)
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Artificial intelligence-driven meta-analysis of brain gene expression identifies novel gene candidates and a role for mitochondria in Alzheimer’s disease
Finney, Caitlin A., Delerue, Fabien, Gold, Wendy A., Brown, David A., Shvetcov, Artur
Published in Computational and structural biotechnology journal (01.01.2023)
Published in Computational and structural biotechnology journal (01.01.2023)
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Emerging evidence of Toll-like receptors as a putative pathway linking maternal inflammation and neurodevelopmental disorders in human offspring: A systematic review
Han, Velda X, Jones, Hannah F, Patel, Shrujna, Mohammad, Shekeeb S, Hofer, Markus J, Alshammery, Sarah, Maple-Brown, Emma, Gold, Wendy, Brilot, Fabienne, Dale, Russell C
Published in Brain, behavior, and immunity (01.01.2022)
Published in Brain, behavior, and immunity (01.01.2022)
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Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)
Kaur, Simranpreet, Van Bergen, Nicole J., Verhey, Kristen J., Nowell, Cameron J., Budaitis, Breane, Yue, Yang, Ellaway, Carolyn, Brunetti‐Pierri, Nicola, Cappuccio, Gerarda, Bruno, Irene, Boyle, Lia, Nigro, Vincenzo, Torella, Annalaura, Roscioli, Tony, Cowley, Mark J., Massey, Sean, Sonawane, Rhea, Burton, Matthew D., Schonewolf‐Greulich, Bitten, Tümer, Zeynep, Chung, Wendy K., Gold, Wendy A., Christodoulou, John
Published in Human mutation (01.10.2020)
Published in Human mutation (01.10.2020)
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Journal Article
Common targetable inflammatory pathways in brain transcriptome of autism spectrum disorders and Tourette syndrome
Alshammery, Sarah, Patel, Shrujna, Jones, Hannah F, Han, Velda X, Gloss, Brian S, Gold, Wendy A, Dale, Russell C
Published in Frontiers in neuroscience (15.12.2022)
Published in Frontiers in neuroscience (15.12.2022)
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Journal Article
Blood-Based Transcriptomic Biomarkers Are Predictive of Neurodegeneration Rather Than Alzheimer’s Disease
Shvetcov, Artur, Thomson, Shannon, Spathos, Jessica, Cho, Ann-Na, Wilkins, Heather M, Andrews, Shea J, Delerue, Fabien, Couttas, Timothy A, Issar, Jasmeen Kaur, Isik, Finula, Kaur, Simranpreet, Drummond, Eleanor, Dobson-Stone, Carol, Duffy, Shantel L, Rogers, Natasha M, Catchpoole, Daniel, Gold, Wendy A, Swerdlow, Russell H, Brown, David A, Finney, Caitlin A
Published in International journal of molecular sciences (01.10.2023)
Published in International journal of molecular sciences (01.10.2023)
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Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease
Nafisinia, Michael, Sobreira, Nara, Riley, Lisa, Gold, Wendy, Uhlenberg, Birgit, Weiß, Claudia, Boehm, Corinne, Prelog, Kristina, Ouvrier, Robert, Christodoulou, John
Published in European journal of human genetics : EJHG (01.10.2017)
Published in European journal of human genetics : EJHG (01.10.2017)
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Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease
Alodaib, Ahmad, Sobreira, Nara, Gold, Wendy A, Riley, Lisa G, Van Bergen, Nicole J, Wilson, Meredith J, Bennetts, Bruce, Thorburn, David R, Boehm, Corinne, Christodoulou, John
Published in European journal of human genetics : EJHG (01.01.2017)
Published in European journal of human genetics : EJHG (01.01.2017)
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Journal Article
P191: Mitochondrial dysfunction in Rett syndrome: Searching for biomarkers
Hertzog, Ashley, Tolun, Adviye Ayper, Ellaway, Carolyn, Gold, Wendy, Ho, Gladys
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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