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2. Understanding the disease mechanisms of cerebellar ataxia through induced pluripotent stem cell models

Author

Wong, Maggie Mei Ki, Becker, Esther, and Talbot, Kevin

Subjects
616.8, neurodegeneration
Abstract

The cerebellar ataxias are a heterogeneous group of incurable disorders that are characterised by progressive dysfunction and degeneration of Purkinje cells. Although numerous causative genes have been identified, the underlying pathogenic mechanisms remain incompletely understood, due to the limited availability of human brain tissue and the lack of reliable disease models. Accumulating evidence has suggested that subtypes of autosomal dominant ataxias (SCAs) are likely to be caused by shared pathogenic pathways. Focused on spinocerebellar ataxia type 14 (SCA14), a subtype of SCAs, this work aimed to understand the aetiology of SCA14 and related SCAs using novel disease models derived from human induced pluripotent stem cells (iPSCs). SCA14 is caused by mutations in protein kinase C gamma (PKCγ), a central molecule in signalling pathways that are important for Purkinje cell development and function. Using iPSCs derived from patients carrying two distinct SCA14 mutations (H36R and H101Q), this work has revealed three novel interconnected disease mechanisms. (1) SCA14 mutations promoted formation of PKCγ foci, which accumulate in the cytoplasm. (2) Mutant PKCγ showed increased kinase activity resulting in increased phosphorylation of substrates. (3) The mislocalisation of hyperactive mutant PKCγ is likely to affect the phosphorylation of its targets at the membrane and the cytoplasm. Importantly, results obtained in SCA14 iPSCs faithfully recapitulated the pathological findings observed in the patient post-mortem cerebellum. Finally, to determine the developmental changes in Purkinje cells, human Purkinje cells were generated from control and SCA14 iPSCs using a novel simplified protocol. Notably, the dendritic development and survival of human SCA14 Purkinje cells were significantly compromised in long-term culture. CRISPR/Cas9-mediated genome editing was also employed to correct the mutations and produce isogenic controls of SCA14 iPSCs. Together, this work highlighted the importance of a faithful disease model and the value of a patient material-driven approach for understanding the aetiology of neurological disorders. In the future, these patient iPSCs would be an ideal platform for further investigation of molecular pathways and therapeutic development for SCA14 and other cerebellar ataxias.

Published
2018

5. Clinical delineation of SETBP1 haploinsufficiency disorder

Author

Jansen, Nadieh A., Braden, Ruth O., Srivastava, Siddharth, Otness, Erin F., Lesca, Gaetan, Rossi, Massimiliano, Nizon, Mathilde, Bernier, Raphael A., Quelin, Chloé, van Haeringen, Arie, Kleefstra, Tjitske, Wong, Maggie M. K., Whalen, Sandra, Fisher, Simon E., Morgan, Angela T., and van Bon, Bregje W.

Published
2021
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7. The neocortical infrastructure for language involves region-specific patterns of laminar gene expression.

Author

Wong, Maggie M. K., Zhiqiang Sha, Lütje, Lukas, Xiang-Zhen Kong, van Heukelum, Sabrina, van de Berg, Wilma D. J., Jonkman, Laura E., Fisher, Simon E., and Francks, Clyde

Subjects
*TEMPORAL lobe, *GENE expression, *FRONTAL lobe, *TRANSCRIPTOMES, *MEDICAL screening, *PEOPLE with schizophrenia
Abstract

The language network of the human brain has core components in the inferior frontal cortex and superior/middle temporal cortex, with left-hemisphere dominance in most people. Functional specialization and interconnectivity of these neocortical regions is likely to be reflected in their molecular and cellular profiles. Excitatory connections between cortical regions arise and innervate according to layer-specific patterns. Here, we generated a gene expression dataset from human postmortem cortical tissue samples from core language network regions, using spatial transcriptomics to discriminate gene expression across cortical layers. Integration of these data with existing single-cell expression data identified 56 genes that showed differences in laminar expression profiles between the frontal and temporal language cortex together with upregulation in layer II/III and/or layer V/VI excitatory neurons. Based on data from large-scale genome-wide screening in the population, DNA variants within these 56 genes showed set-level associations with interindividual variation in structural connectivity between the left-hemisphere frontal and temporal language cortex, and with the brain-related disorders dyslexia and schizophrenia which often involve affected language. These findings identify region-specific patterns of laminar gene expression as a feature of the brain's language network. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Integrated foundation studio and art history at the School of the Art Institute of Chicago.

Author

Elkins, James, Wong, Maggie, and Briggs, Troy

Subjects
*ART history, *STUDIO art classes, *PRIVATE schools, *ARTISTIC collaboration, *ART colleges
Abstract

The first year in art schools, academies, and departments is a perennial unsolved problem. The experiment we describe here reimagines the entire history and problematics of the foundation year all at once. Our proposal is that art history and studio instruction can be deconstructed and merged, producing a coherent first-year experience. The experiment we describe here is a collaboration between art history and studio art at the School of the Art Institute of Chicago in summer 2021. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Addressing Barriers in Health Equity through Innovations in Health Information Technology: A Health Center’s Experiences in Implementing a Chinese Language Patient Portal

Author

Mei, Christopher, Kim, Esther B., Sherman, Lynn, Sim, Shao-Chee, Yeung, Kai, Poon, Candy, Wong, Maggie, and Egleson, Nick

Abstract

Patient portals have the potential to empower patients to be more knowledgeable and proactive about their health. Implementation of patient portals has become increasingly critical at primary care sites that serve underserved communities, where there is a growing need for linguistically appropriate electronic access. The Charles B. Wang Community Health Center has recently developed a linguistically appropriate patient portal with the goal of providing increased access to its majority Chinese American patient population with low English proficiency and literacy levels. This article will discuss experiences learned from implementing a Chinese Language Patient Portal that addresses socioeconomic barriers and disparities in health care access.

Published
2014

14. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Author

de Boer, Elke, primary, Ockeloen, Charlotte W., additional, Kampen, Rosalie A., additional, Hampstead, Juliet E., additional, Dingemans, Alexander J.M., additional, Rots, Dmitrijs, additional, Lütje, Lukas, additional, Ashraf, Tazeen, additional, Baker, Rachel, additional, Barat-Houari, Mouna, additional, Angle, Brad, additional, Chatron, Nicolas, additional, Denommé-Pichon, Anne-Sophie, additional, Devinsky, Orrin, additional, Dubourg, Christèle, additional, Elmslie, Frances, additional, Elloumi, Houda Zghal, additional, Faivre, Laurence, additional, Fitzgerald-Butt, Sarah, additional, Geneviève, David, additional, Goos, Jacqueline A.C., additional, Helm, Benjamin M., additional, Kini, Usha, additional, Lasa-Aranzasti, Amaia, additional, Lesca, Gaetan, additional, Lynch, Sally A., additional, Mathijssen, Irene M.J., additional, McGowan, Ruth, additional, Monaghan, Kristin G., additional, Odent, Sylvie, additional, Pfundt, Rolph, additional, Putoux, Audrey, additional, van Reeuwijk, Jeroen, additional, Santen, Gijs W.E., additional, Sasaki, Erina, additional, Sorlin, Arthur, additional, van der Spek, Peter J., additional, Stegmann, Alexander P.A., additional, Swagemakers, Sigrid M.A., additional, Valenzuela, Irene, additional, Viora-Dupont, Eléonore, additional, Vitobello, Antonio, additional, Ware, Stephanie M., additional, Wéber, Mathys, additional, Gilissen, Christian, additional, Low, Karen J., additional, Fisher, Simon E., additional, Vissers, Lisenka E.L.M., additional, Wong, Maggie M.K., additional, and Kleefstra, Tjitske, additional

Published
2023
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15. The New Normal: Monitoring Subrecipients Under the Uniform Guidance Requirements

Author

Harper, Kevin W. and Wong, Maggie

Subjects
Social service, Banking, finance and accounting industries, Business, Government
Abstract

The San Mateo County Human Services Agency faced challenges in understanding, implementing and complying with new subrecipient monitoring provisions. Here are the lessons learned. The caliber of our program managers [...]

Published
2020

16. Real-life experience with IV fosfomycin in Canada: Results from the Canadian LEadership on Antimicrobial Real-life usage (CLEAR) registry

Author

Zhanel, George, primary, Baxter, Melanie, additional, Wong, Maggie, additional, Mirzanejad, Yazdan, additional, Lee, Anna, additional, Dhami, Rita, additional, Kosar, Justin, additional, Werry, Denise, additional, Irfan, Neal, additional, Tessier, Jean-Francois, additional, Girourd, Gabriel, additional, Tascini, Carlo, additional, von den Baumen, Teagen Rolf, additional, Walkty, Andrew, additional, and Karlowsky, James A., additional

Published
2023
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19. Clinical efficacy and long-term immunogenicity of an early triple dose regimen of SARS-CoV-2 mRNA vaccination in cancer patients

Author

Lee, Matilda Xinwei, primary, Peng, Siyu, additional, Lee, Ainsley Ryan Yan Bin, additional, Wong, Shi Yin, additional, Tay, Ryan Yong Kiat, additional, Li, Jiaqi, additional, Tariq, Areeba, additional, Goh, Claire Xin Yi, additional, Tan, Ying Kiat, additional, Tan, Benjamin Kye Jyn, additional, Teo, Chong Boon, additional, Chan, Esther, additional, Ooi, Melissa, additional, Chng, Wee Joo, additional, Chee, Cheng Ean, additional, Ho, Carol LF, additional, Walsh, Robert John, additional, Wong, Maggie, additional, Su, Yan, additional, Alexander, Lezhava, additional, Sethi, Sunil Kumar, additional, Tan, Shaun Shi Yan, additional, Chan, Yiong Huak, additional, Tan, Kelvin Bryan, additional, Lee, Soo-Chin, additional, Chai, Louis Yi Ann, additional, and Sundar, Raghav, additional

Published
2023
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21. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Author

de Boer, Elke, Ockeloen, Charlotte, Kampen, Rosalie, Hampstead, Juliet, Dingemans, Alexander, Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline, Helm, Benjamin, Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally, Mathijssen, Irene, Mcgowan, Ruth, Monaghan, Kristin, Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs, Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter, Stegmann, Alexander, Swagemakers, Sigrid, Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie, Wéber, Mathys, Gilissen, Christian, Low, Karen, Fisher, Simon, Dingemans, Alexander J.M., Goos, Jacqueline A.C., Mathijssen, Irene M.J., Santen, Gijs W.E., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske, MUMC+: DA KG Lab Specialisten (9), RS: FHML non-thematic output, Pathology, Plastic and Reconstructive Surgery and Hand Surgery, Radboud University [Nijmegen], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hospices Civils de Lyon (HCL), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, This work was financially supported by Aspasia grants of the Dutch Research Council (015.014.036 to T.K. and 015.014.066 to L.E.L.M.V.), Netherlands Organization for Health Research and Development (91718310 to T.K.), and the Max Planck Society (M.M.K.W., S.E.F.). Individual 4 was sequenced at the Scottish Genomes Partnership. The Scottish Genomes Partnership was funded by the Chief Scientist Office of the Scottish Government Health Directorates (SGP/1) and the Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative (MC/PC/15080). The Deciphering Developmental Disorders study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003). This study makes use of Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (https://www.deciphergenomics.org/), which is funded by Wellcome. See Deciphering Developmental Disorders study8 or https://www.ddduk.org/access.html for full acknowledgment., Institut Català de la Salut, [de Boer E, Dingemans AJM, Rots D] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands. [Ockeloen CW] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. [Kampen RA] Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands. [Hampstead JE] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands. [Lasa-Aranzasti A] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca en Medicina Genètica, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
Neuroinformatics, Proteasome Endopeptidase Complex, [SDV]Life Sciences [q-bio], fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo [FENÓMENOS Y PROCESOS], Mutation, Missense, Genotype-phenotype study, enfermedades musculoesqueléticas::enfermedades óseas::enfermedades óseas del desarrollo [ENFERMEDADES], Ossos - Malalties - Aspectes genètics, ANKRD11, All institutes and research themes of the Radboud University Medical Center, Missense variants, Intellectual Disability, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, Genotype–phenotype study, Musculoskeletal Diseases::Bone Diseases::Bone Diseases, Developmental [DISEASES], Abnormalities, Multiple, Genetics (clinical), [SDV.GEN]Life Sciences [q-bio]/Genetics, Bone Diseases, Developmental, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Stomatognathic System Abnormalities::Tooth Abnormalities [DISEASES], Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Otros calificadores::Otros calificadores::/genética [Otros calificadores], Tooth Abnormalities, Neurodevelopmental disorders, Facies, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], KBG syndrome, Repressor Proteins, Anomalies cromosòmiques, Phenotype, enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::anomalías del sistema estomatognático::anomalías dentarias [ENFERMEDADES], Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense [PHENOMENA AND PROCESSES], Chromosome Deletion, Dents - Malformacions - Aspectes genètics, Transcription Factors
Abstract

KBG syndrome; Missense variants; Neurodevelopmental disorders Síndrome KBG; Variants de missense; Trastorns del neurodesenvolupament Síndrome KBG; Variantes de missense; Trastornos del neurodesarrollo Purpose Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11 missense variants. Methods We collected clinical information of individuals with ANKRD11 missense variants and evaluated phenotypic fit to KBG syndrome. We assessed pathogenicity of variants through in silico analyses and cell-based experiments. Results We identified 20 unique, mostly de novo, ANKRD11 missense variants in 29 individuals, presenting with syndromic neurodevelopmental disorders similar to KBG syndrome caused by ANKRD11 protein truncating variants or 16q24.3 microdeletions. Missense variants significantly clustered in repression domain 2 at the ANKRD11 C-terminus. Of the 10 functionally studied missense variants, 6 reduced ANKRD11 stability. One variant caused decreased proteasome degradation and loss of ANKRD11 transcriptional activity. Conclusion Our study indicates that pathogenic heterozygous ANKRD11 missense variants cause the clinically recognizable KBG syndrome. Disrupted transrepression capacity and reduced protein stability each independently lead to ANKRD11 loss-of-function, consistent with haploinsufficiency. This highlights the diagnostic relevance of ANKRD11 missense variants, but also poses diagnostic challenges because the KBG-associated phenotype may be mild and inherited pathogenic ANKRD11 (missense) variants are increasingly observed, warranting stringent variant classification and careful phenotyping.

Published
2022

27. SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder

Author

Wong, Maggie MK, primary, Kampen, Rosalie A, additional, Braden, Ruth O, additional, Alagöz, Gökberk, additional, Hildebrand, Michael S, additional, Barnett, Christopher, additional, Barnett, Meghan, additional, Brusco, Alfredo, additional, Carli, Diana, additional, de Vries, Bert BA, additional, Dingemans, Alexander JM, additional, Elmslie, Frances, additional, Ferrero, Giovanni B, additional, Jansen, Nadieh A, additional, van de Laar, Ingrid MBH, additional, Moroni, Alice, additional, Mowat, David, additional, Murray, Lucinda, additional, Novara, Francesca, additional, Peron, Angela, additional, Scheffer, Ingrid E, additional, Sirchia, Fabio, additional, Turner, Samantha J, additional, Vignoli, Aglaia, additional, Vino, Arianna, additional, Weber, Sacha, additional, Chung, Wendy K, additional, Gerard, Marion, additional, López-González, Vanessa, additional, Palmer, Elizabeth, additional, Morgan, Angela T, additional, van Bon, Bregje W, additional, and Fisher, Simon E, additional

Published
2022
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28. A comparative study of debugging techniques in distributed systems

Author

Wong, Maggie.

Subjects
ComputingMilieux_COMPUTERSANDEDUCATION, ComputerApplications_COMPUTERSINOTHERSYSTEMS
Abstract

This thesis was scanned from the print manuscript for digital preservation and is copyright the author. Researchers can access this thesis by asking their local university, institution or public library to make a request on their behalf. Monash staff and postgraduate students can use the link in the References field.

Published
2022
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29. Competency domains of educators in medical, nursing, and health sciences education: An integrative review.

Author

Sidhu, Navdeep S., Allen, Kara J., Civil, Nina, Johnstone, Charlotte S. H., Wong, Maggie, Taylor, Jennifer A., Gough, Katherine, and Hennessy, Maurice

Subjects
NATIONAL competency-based educational tests, CINAHL database, VOCATIONAL guidance, SYSTEMATIC reviews, NURSING education, RESPONSIBILITY, DESCRIPTIVE statistics, QUALITY assurance, THEMATIC analysis, PROFESSIONALISM, MEDLINE, MEDICAL education, ERIC (Information retrieval system)
Abstract

Competencies for educators of healthcare professionals are important for demonstrating accountability, defining roles and responsibilities, structuring activities for training and development, defining standards, quality assurance, performance reviews, career development, and promoting the professionalisation of teaching. The frameworks and domains of educator competencies have not previously been reviewed or systematically described. Through this integrative review, the authors sought to identify an inclusive structure for competency domains that may be applied to educators. Keywords were identified in a pilot search, followed by a multi-database search strategy of records published from 2000 to January 2020 with subsequent backward and forward reference searches. We included all record types that listed or described educator competency domains in medical, nursing and health sciences education. We excluded records that described 'ideal traits' or 'characteristics of good teachers/educators,' presented competencies as part of a larger curricular framework, and teaching assessment tool content. The multi-database search retrieved 2942 initial citations. From a full-text review of 301 records, 67 were identified as describing educator competency domains eligible for analysis. Documents contained a median of six domains (interquartile range = 5–7) and 14.9% incorporated at least one overarching element across their domains. Following an inductive thematic analysis, six distinct domains of educator competence were identified: Teaching and facilitating learning; Designing and planning learning; Assessment of learning; Educational research and scholarship; Educational leadership and management; Educational environment, quality, and safety. The two latter domains contained sub-themes that were able to be further categorised. Documents and frameworks were described for a wide variety of health and allied health disciplines. Distinct educator competency domains were identified in this analysis, applicable across a range of healthcare disciplines. Along with the description of design elements, these provide a guide for the development and evaluation of educator competency frameworks. [ABSTRACT FROM AUTHOR]

Published
2023
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32. Is shorter better? Duration of therapy for common bacterial infections in adults: Randomized controlled studies conducted over the last decade have indicated that a shorter duration of antibiotic therapy is just as effective as longer treatment.

Author

Wong, Maggie, Lau, Tim T. Y., Leung, Victor, and Afra, Kevin

Subjects
*TREATMENT duration, *BACTERIAL diseases, *SOFT tissue infections, *URINARY tract infections, *INTRA-abdominal infections
Abstract

Antimicrobial resistance is a looming threat to our society's health. Physicians need simple strategies for antimicrobial stewardship that can be readily incorporated into everyday practice. Addressing duration of therapy is one of these key strategies. Every day of antibiotic exposure beyond that which is necessary to cure the infection increases the risk of adverse events and antimicrobial resistance without providing additional benefits. We focus on the adult population and commonly encountered conditions: community-acquired pneumonia, intra-abdominal infections, skin and soft tissue infections, osteomyelitis, complicated urinary tract infections, and gram-negative bacteremia. The treatment of these common infections overlaps in primary and acute care practices. Recent literature suggests shorter duration of therapy is as effective as longer durations for these infections. [ABSTRACT FROM AUTHOR]

Published
2022

35. Missense variants in ANKRD11cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Author

de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., and Kleefstra, Tjitske

Abstract

Although haploinsufficiency of ANKRD11is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11missense variants.

Published
2022
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36. Abstract 3911: High-throughput screening of patient-derived HCC organoids for drug discovery

Author

Wong, Alissa Michelle Go, primary, Cheung, Winnie, additional, Wong, Maggie, additional, Wong, Aikha, additional, Lam, Helena, additional, Zhang, Zhe, additional, Man, Matthew, additional, Chen, Hui, additional, Close, David, additional, Johnston, Paul, additional, Chan, Anthony, additional, Lai, Paul, additional, Kwong, Joseph, additional, and Wong, Nathalie, additional

Published
2020
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39. Can cognitive distortions differentiate between internalising and externalising problems?

Author

Leung, Patrick W.L. and Wong, Maggie M.T.

Subjects
Cognition disorders -- Research, Psychology and mental health
Abstract

A sample of 189 boys and 216 girls with the average age of 15 years were recruited from three main high schools in Hong Kong and asked to participate in a study which examined the association of various forms of cognitive distortions to internalizing and externalizing community problems. The Children's Negative Cognitive Errors Questionnaire and the Youth Self-Report Form were administered to the subjects. Regression and group comparison analyses showed that internalizing problems were related to the different forms of cognitive distortions assessed, including personalizing and selective abstraction.

Published
1998

46. Speech and language deficits are central to SETBP1haploinsufficiency disorder

Author

Morgan, Angela, Braden, Ruth, Wong, Maggie M. K., Colin, Estelle, Amor, David, Liégeois, Frederique, Srivastava, Siddharth, Vogel, Adam, Bizaoui, Varoona, Ranguin, Kara, Fisher, Simon E., and van Bon, Bregje W.

Abstract

Expressive communication impairment is associated with haploinsufficiency of SETBP1, as reported in small case series. Heterozygous pathogenic loss-of-function (LoF) variants in SETBP1have also been identified in independent cohorts ascertained for childhood apraxia of speech (CAS), warranting further investigation of the roles of this gene in speech development. Thirty-one participants (12 males, aged 0; 8–23; 2 years, 28 with pathogenic SETBP1LoF variants, 3 with 18q12.3 deletions) were assessed for speech, language and literacy abilities. Broader development was examined with standardised motor, social and daily life skills assessments. Gross and fine motor deficits (94%) and intellectual impairments (68%) were common. Protracted and aberrant speech development was consistently seen, regardless of motor or intellectual ability. We expand the linguistic phenotype associated with SETBP1LoF syndrome (SETBP1 haploinsufficiency disorder), revealing a striking speech presentation that implicates both motor (CAS, dysarthria) and language (phonological errors) systems, with CAS (80%) being the most common diagnosis. In contrast to past reports, the understanding of language was rarely better preserved than language expression (29%). Language was typically low, to moderately impaired, with commensurate expression and comprehension ability. Children were sociable with a strong desire to communicate. Minimally verbal children (32%) augmented speech with sign language, gestures or digital devices. Overall, relative to general development, spoken language and literacy were poorer than social, daily living, motor and adaptive behaviour skills. Our findings show that poor communication is a central feature of SETBP1haploinsufficiency disorder, confirming this gene as a strong candidate for speech and language disorders.

Published
2021
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49. Brain matter matters : renewal in the human brain

Author

Yeung Wong, Maggie and Yeung Wong, Maggie

Abstract

Many cells have a shorter life span than the organism itself and are continuously being replaced. However, for many cell types in the human body it is still largely unknown whether they turn over at all once development is complete. The work presented in this thesis focuses on understanding the occurrence of cell renewal in the human brain and how it may affect brain function. We further explore if the ability of cell renewal may also be affected in the diseased brain. To investigate cell turnover in the human brain we used a methodology developed in the Frisén laboratory. The developed strategy takes the advantage of the integration of the 14C (carbon-14) isotope, produced from the nuclear bomb tests during the Cold War, into genomic DNA, to determine the age of cells in humans. In Paper I we assessed the dynamics of oligodendrocyte generation and myelination in the human brain. We found that the number of oligodendrocytes in the corpus callosum is established in childhood and remains constant thereafter. We revealed that myelin is continually exchanged, whereas white matter oligodendrocytes are remarkably stable with an annual exchange of 1 in 300 oligodendrocytes. This suggests that myelin modulation in humans may be carried out by mature oligodendrocytes. Moreover, we also found different kinetics of oligodendrocyte generation and turnover between gray and white matter, with a longer period of oligodendrocyte generation and higher turnover rate throughout life in gray matter, showing the possibility of de novo myelination in the sparsely myelinated cortex. However, how generation kinetics of the oligodendrocyte population may change under pathological conditions such as in the demyelination disease multiple sclerosis has been unknown. In Paper II we investigated the oligodendrocyte generation dynamics in multiple sclerosis patients. We observed no induced generation of oligodendrocytes in normal appearing white matter, except in a subsets of multiple sclerosis p

Published
2017

50. Un tren bala más elegante e inteligente: Japón presenta el Shinkansen Supreme

Author

Watatsuki, Yoko and Wong, Maggie

Subjects
Central Japan Railway Co., General interest, News, opinion and commentary
Abstract

Byline: Yoko Watatsuki y Maggie Wong, CNN (CNN) - Los Juegos Olímpicos de verano de Tokio 2020 estarán a dos años de distancia, pero Japón ya está flexionando sus músculos [...]

Published
2018

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