W. Gold

发表

High-Throughput In Vitro, Ex Vivo, and In Vivo Screen of Adeno-Associated Virus Vectors Based on Physical and Functional Transduction

I. Alexander, A. Gonzalez-Cordero, A. Thrasher, 2020, Human gene therapy.

Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome

Rodney C. Samaco, M. Sahin, H. Leonard, 2022, Orphanet Journal of Rare Diseases.

Genome‐wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets

J. Christodoulou, C. Ellaway, W. Gold, 2019, Human mutation.

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).

J. Christodoulou, B. Kamien, D. Phelan, 2020, Journal of genetics and genomics = Yi chuan xue bao.

Maternal acute and chronic inflammation in pregnancy is associated with common neurodevelopmental disorders: a systematic review

N. Nassar, R. Dale, F. Brilot, 2021, Translational Psychiatry.

Gene Editing and Rett Syndrome: Does It Make the Cut?

A. Clarke, C. Ellaway, L. Lisowski, 2022, The CRISPR journal.

Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities.

J. Christodoulou, C. Ellaway, W. Gold, 2017, ACS chemical neuroscience.

The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome

J. Christodoulou, W. Gold, 2015, Front. Cell. Neurosci..

MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors

J. Christodoulou, W. Gold, L. Cantrill, 2014, Journal of Molecular Medicine.

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain

Andrew J. Grimm, P. Tam, J. Christodoulou, 2011, Human Genetics.

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

S. Züchner, M. Lek, F. Muntoni, 2013, Brain : a journal of neurology.

Artificial intelligence-driven meta-analysis of brain gene expression identifies novel gene candidates and a role for mitochondria in Alzheimer’s disease

W. Gold, F. Delerue, David A. Brown, 2022, Computational and structural biotechnology journal.

Meta-Analysis Identifies BDNF and Novel Common Genes Differently Altered in Cross-Species Models of Rett Syndrome

B. Gloss, W. Gold, P. Tam, 2022, International journal of molecular sciences.

Anti-Semaphorin 4D Rescues Motor, Cognitive, and Respiratory Phenotypes in a Rett Syndrome Mouse Model

W. Gold, Y. Mao, E. Evans, 2021, International journal of molecular sciences.

Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.

H. Hakonarson, Yiran Guo, Jianguo Zhang, 2016, JIMD reports.

The neuroprotective effects of estrogen and estrogenic compounds in spinal cord injury

M. Ruitenberg, W. Gold, F. Delerue, 2022, Neuroscience & Biobehavioral Reviews.

Brain Transcriptome of Autism Spectrum Disorders and Tourette Syndrome Defines Common Targetable Inflammatory Pathways Involving Cytokines, Complement, and Kinase Signalling

B. Gloss, R. Dale, W. Gold, 2021 .

Common targetable inflammatory pathways in brain transcriptome of autism spectrum disorders and Tourette syndrome

B. Gloss, R. Dale, W. Gold, 2022, Frontiers in Neuroscience.

A simple and efficient toolset for analysing mitochondrial trafficking in neuronal cells.

J. Christodoulou, W. Gold, L. Cantrill, 2018, Acta histochemica.

Breaking Boundaries in the Brain—Advances in Editing Tools for Neurogenetic Disorders

W. Gold, Bronte Coorey, 2021, Frontiers in Genome Editing.

Neurological Disorders Associated with WWOX Germline Mutations—A Comprehensive Overview

R. Aqeilan, P. Carlen, L. Lisowski, 2021, Cells.

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain

Andrew J. Grimm, P. Tam, J. Christodoulou, 2012, Human Genetics.

A novel gene family induced by acute inflammation in endothelial cells.

W. Gold, K. Warton, K. Stanley, 2004, Gene.

Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient

J. Christodoulou, C. Ellaway, S. Lunke, 2019, Clinical case reports.

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease

Bruce Bennetts, N. Sobreira, Meredith Wilson, 2016, European Journal of Human Genetics.

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus–Merzbacher disease

N. Sobreira, J. Christodoulou, C. Boehm, 2017, European Journal of Human Genetics.

Utility of next‐generation sequencing technologies for the efficient genetic resolution of haematological disorders

H. Hakonarson, Yiran Guo, J. Christodoulou, 2016, Clinical genetics.

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

W. Chung, N. Brunetti‐Pierri, Z. Tümer, 2020, Human mutation.

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction

Alexandre Y Marbaix, N. Sobreira, J. Christodoulou, 2017, American journal of medical genetics. Part A.

Pre-clinical Investigation of Rett Syndrome Using Human Stem Cell-Based Disease Models

P. Tam, W. Gold, L. Riley, 2021, Frontiers in Neuroscience.

Emerging evidence of Toll-like receptors as a putative pathway linking maternal inflammation and neurodevelopmental disorders in human offspring: A systematic review

F. Brilot, W. Gold, S. Mohammad, 2021, Brain, Behavior, and Immunity.

Maternal autoimmunity and inflammation are associated with childhood tics and obsessive-compulsive disorder: Transcriptomic data show common enriched innate immune pathways

B. Gloss, K. Kothur, N. Nassar, 2021, Brain, Behavior, and Immunity.

WGCNA Identifies Translational and Proteasome-Ubiquitin Dysfunction in Rett Syndrome

B. Gloss, P. Tam, W. Gold, 2021, International journal of molecular sciences.

Mitochondrial dysfunction in skeletal muscle of a mouse model of Rett Syndrome ( RTT ) : Implications for the disease phenotype .

P. Tam, J. Christodoulou, I. Hargreaves, 2014 .

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

J. Christodoulou, K. Bhattacharya, C. Simons, 2017, PloS one.

Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing.

J. Christodoulou, J. Cardinal, W. Gold, 2018, Molecular genetics and metabolism.

MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors

J. Christodoulou, W. Gold, L. Cantrill, 2014, Journal of Molecular Medicine.

Blood-Based Transcriptomic Biomarkers Are Predictive of Neurodegeneration Rather Than Alzheimer’s Disease

S. Andrews, S. Duffy, W. Gold, 2023, medRxiv.

Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): implications for the disease phenotype.

W. Gold, S. Kaur, G. Pelka, 2014, Mitochondrion.