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1. Mediating Public Space: Art and Technology That Goes Beyond the Frame Art Gallery

Author

Llach, Daniel Cardoso, Liu, Jingyang (Leo), Lee, Yi-Chin, Wolfe, Hannah E., Kıratlı, Şölen, Bundy, Alex, Brueckner, Sophia, Mendoza, Neil, Pazera, Łukasz, Franusich, David, Klein, Tobias, Polyak, Emil, Katsumoto, Yuichiro, Kuchera-Morin, JoAnn, Cabrera, Andres, Kim, Kon Hyong, Rincon, Gustavo, Wood, Tim, Demarest, Luke, Hong, Sanghwa, Kim, Hyunchul, Kim, Seonghyeon, Lee, Byungjoo, and Breeze, Mez

Published
2020

2. Potential Early Identification of a Large Campylobacter Outbreak Using Alternative Surveillance Data Sources: Autoregressive Modelling and Spatiotemporal Clustering

Author

Adnan, Mehnaz, Gao, Xiaoying, Bai, Xiaohan, Newbern, Elizabeth, Sherwood, Jill, Jones, Nicholas, Baker, Michael, Wood, Tim, and Gao, Wei

Subjects
Public aspects of medicine, RA1-1270
Abstract

BackgroundOver one-third of the population of Havelock North, New Zealand, approximately 5500 people, were estimated to have been affected by campylobacteriosis in a large waterborne outbreak. Cases reported through the notifiable disease surveillance system (notified case reports) are inevitably delayed by several days, resulting in slowed outbreak recognition and delayed control measures. Early outbreak detection and magnitude prediction are critical to outbreak control. It is therefore important to consider alternative surveillance data sources and evaluate their potential for recognizing outbreaks at the earliest possible time. ObjectiveThe first objective of this study is to compare and validate the selection of alternative data sources (general practice consultations, consumer helpline, Google Trends, Twitter microblogs, and school absenteeism) for their temporal predictive strength for Campylobacter cases during the Havelock North outbreak. The second objective is to examine spatiotemporal clustering of data from alternative sources to assess the size and geographic extent of the outbreak and to support efforts to attribute its source. MethodsWe combined measures derived from alternative data sources during the 2016 Havelock North campylobacteriosis outbreak with notified case report counts to predict suspected daily Campylobacter case counts up to 5 days before cases reported in the disease surveillance system. Spatiotemporal clustering of the data was analyzed using Local Moran’s I statistics to investigate the extent of the outbreak in both space and time within the affected area. ResultsModels that combined consumer helpline data with autoregressive notified case counts had the best out-of-sample predictive accuracy for 1 and 2 days ahead of notified case reports. Models using Google Trends and Twitter typically performed the best 3 and 4 days before case notifications. Spatiotemporal clusters showed spikes in school absenteeism and consumer helpline inquiries that preceded the notified cases in the city primarily affected by the outbreak. ConclusionsAlternative data sources can provide earlier indications of a large gastroenteritis outbreak compared with conventional case notifications. Spatiotemporal analysis can assist in refining the geographical focus of an outbreak and can potentially support public health source attribution efforts. Further work is required to assess the location of such surveillance data sources and methods in routine public health practice.

Published
2020
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5. RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A

Author

Sohn, Young Bae, Rogers, Curtis, Stallworth, Jennifer, Coleman, Jessica A Cooley, Buch, Laura, Jozwiak, Erin, Johnson, Jo Ann, Wood, Tim, Harmatz, Paul, Pollard, Laura, and Louie, Raymond J

Subjects
Human Genome, Intellectual and Developmental Disabilities (IDD), Genetics, Biotechnology, Brain Disorders, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, GALNS, GALNS transcript isoform, Aberrant splicing, Morquio syndrome A, Mucopolysaccharidosis IVA, Biochemistry and Cell Biology
Abstract

Morquio syndrome A (Mucopolysaccharidosis IVA, MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficiency of N-acetyl-galactosamine-6-sulfatase (GALNS) which catabolizes the glycosaminoglycans (GAG), keratan sulfate and chondroitin-6-sulfate. Homozygous or compound heterozygous pathogenic variants in the GALNS result in the deficiency of the enzyme and consequent GAG accumulations. DNA sequence and copy number analysis of the GALNS coding region fails to identify biallelic causative pathogenic variants in up to 15% of patients with Morquio syndrome A. RNA transcript analysis was performed to identify pathogenic alterations in two unrelated families with Morquio syndrome A in whom a single heterozygous or no pathogenic alteration was detected by standard analysis of the GALNS gene. RNA sequencing and quantitative expression analysis identified the overabundance of an aberrant GALNS transcript isoform and a reduction of the clinically relevant isoform (NM_000512.4) in the Morquio syndrome A patients from both families. The aberrant isoform (ENST00000568613.1) was produced by alternative splicing and contained intronic sequence that was likely a cryptic exon predicted to result in a reading frame shift and generation of a premature termination codon. These findings indicated that the aberrant splicing is likely the novel molecular defect in our patients. RNA transcript analysis could be useful to identify pathogenic alterations and increase the yield of molecular diagnosis in patients with Morquio syndrome A whose genetic variants are not found by standard sequencing or gene dosage analysis.

Published
2022

6. Change in Age profile of Respiratory Syncytial Virus disease over the course of annual epidemics: a multi-national study

Author

Caini, Saverio, Casalegno, Jean-Sebastien, Rodrigues, Ana Paula, Lee, Vernon, Cohen, Cheryl, Huang, Q.Sue, Bruno Caicedo, Alfredo, Teirlinck, Anne, Guiomar, Raquel, Ang, Li Wei, Moyes, Jocelyn, Wood, Tim, de Mora, Doménica, Bangert, Mathieu, Kramer, Rolf, Staadegaard, Lisa, Heemskerk, Susanne, van Summeren, Jojanneke, Meijer, Adam, and Paget, John

Published
2024
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7. Curricular Approaches to Transgender Health in Physician Assistant Education

Author

Rolls, Joanne, Davis, John, Backman, Richard, Wood, Tim, and Honda, Trenton

Subjects
Health Services and Systems, Public Health, Health Sciences, Clinical Research, Quality Education, Adult, Curriculum, Female, Health Services for Transgender Persons, Humans, Male, Physician Assistants, Surveys and Questionnaires, United States, Clinical Sciences, Curriculum and Pedagogy, General & Internal Medicine, Curriculum and pedagogy, Health services and systems
Abstract

PurposeAccording to the Williams Institute, 1.4 million U.S. adults identify as transgender. Many experience health care disparities. Professional organizations call for medical education to improve transgender care, but what curricula are being delivered is unknown. The goal of this study was to conduct the first comprehensive, national survey of transgender health care curricula in physician assistant (PA) education.MethodThe authors sent a questionnaire to program directors (PDs) at all 236 U.S. PA programs in June 2018. They categorized programs as those that currently deliver at least 1 hour of transgender health content and those who do not (Teaching/Not Teaching). They examined differences between Teaching and Not Teaching programs using chi-square tests, and they evaluated comments for themes.ResultsThe response rate was 100%. Of the 236 programs, 202 (85.6%) teach transgender content and 34 (14.4%) do not. According to PDs, most transgender content was delivered in medical interviewing (44.1%) or women's health (31.4%) and the most common transgender health topics included differentiating between sex and gender and between behavior and identity (78.8%), followed by health disparities (77.5%) and barriers to care (75.0%). PDs most commonly cited a lack of time (51.3%) and faculty knowledge (35.6%) as barriers for teaching transgender health topics. Half of the PDs (50.4%) ranked transgender health as very or extremely important. The authors detected statistically significant differences between Teaching and Not Teaching programs based on geographic region (P = .01), perceived importance (P ≤ .001), and presence of knowledgeable faculty (P = .01). Presence of knowledgeable faculty was significantly associated with perceived importance (P = .01).ConclusionsThis is the first comprehensive, nationwide survey of transgender health education in U.S. PA programs. A key finding is that the presence of expert faculty is significantly associated with delivery and perceived importance of transgender health curricula.

Published
2020

8. Reducing communication costs in multi-party computation

Author

Wood, Tim N. and Smart, Nigel

Subjects
004, cryptography, secret-sharing, mpc, garbled circuits, preprocessing model
Abstract

Multi-party computation (MPC) is a way of computing on private data without revealing the data itself. To do this, data is "secret-shared" amongst a set of mutually-distrusting parties, which perform local computations and interactive processes to evaluate a function. MPC protocols are diverse and offer a variety of different security guarantees, and employ different methodologies to optimize for different aspects of the evaluation. The goal of this work is to show how to reduce communication costs involved in different areas of MPC. An 'access structure' defines which sets of parties a so-called adversary can corrupt such that the inputs remain private and the outputs are revealed to the right parties; one type of access structure is called Q₂, under which assumption there are many classical results on what sorts of functions can be evaluated. One of the contributions of this work is to show how special "error-detection" properties that apply in the context of Q₂ access structures can be used to define MPC protocols that improve on the efficiency of classical results. In the so-called 'preprocessing model', parties evaluate a function on random inputs, and later "derandomize" using the real (private) inputs. This model is popular in MPC as function evaluation is expensive, whereas derandomization is cheap. In this thesis, a generic method is given for outsourcing preprocessing to a set of servers, which means that low-powered clients who wish to evaluate functions on their data can do so. The final contribution is a protocol that allows parties to mix two different MPC techniques called 'garbled circuits' and 'secret-sharing' in a secure way, even when the adversary deviates arbitrarily from the protocol description. Mixing these methods is useful as they optimize for different aspects of computation.

Published
2019

10. Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Author

Nicoli, Elena-Raluca, Weston, Mary, Hackbarth, Mary, Becerril, Alissa, Larson, Austin, Zein, Wadih, Baker, Peter, Burke, John, Dorward, Heidi, Davids, Mariska, Huang, Yan, Adams, David, Zerfas, Patricia, Chen, Dong, Markello, Thomas, Toro, Camilo, Wood, Tim, Elliott, Gene, Vu, Mylinh, Zheng, Wei, Garrett, Lisa, Tifft, Cynthia, Gahl, William, Day-Salvatore, Debra, Mindell, Joseph, and Malicdan, May

Subjects
ClC-7 antiporter, chloroquine, cutaneous albinism, lysosomal hyperacidity, lysosomal membrane counterion, lysosomal pH, lysosomal storage disease, oculocutaneous albinism, Acids, Albinism, Animals, Chloride Channels, Female, Fibroblasts, Genetic Variation, Humans, Hydrogen-Ion Concentration, Infant, Lysosomal Storage Diseases, Lysosomes, Male, Mice, Oocytes, Xenopus laevis
Abstract

Optimal lysosome function requires maintenance of an acidic pH maintained by proton pumps in combination with a counterion transporter such as the Cl-/H+ exchanger, CLCN7 (ClC-7), encoded by CLCN7. The role of ClC-7 in maintaining lysosomal pH has been controversial. In this paper, we performed clinical and genetic evaluations of two children of different ethnicities. Both children had delayed myelination and development, organomegaly, and hypopigmentation, but neither had osteopetrosis. Whole-exome and -genome sequencing revealed a de novo c.2144A>G variant in CLCN7 in both affected children. This p.Tyr715Cys variant, located in the C-terminal domain of ClC-7, resulted in increased outward currents when it was heterologously expressed in Xenopus oocytes. Fibroblasts from probands displayed a lysosomal pH approximately 0.2 units lower than that of control cells, and treatment with chloroquine normalized the pH. Primary fibroblasts from both probands also exhibited markedly enlarged intracellular vacuoles; this finding was recapitulated by the overexpression of human p.Tyr715Cys CLCN7 in control fibroblasts, reflecting the dominant, gain-of-function nature of the variant. A mouse harboring the knock-in Clcn7 variant exhibited hypopigmentation, hepatomegaly resulting from abnormal storage, and enlarged vacuoles in cultured fibroblasts. Our results show that p.Tyr715Cys is a gain-of-function CLCN7 variant associated with developmental delay, organomegaly, and hypopigmentation resulting from lysosomal hyperacidity, abnormal storage, and enlarged intracellular vacuoles. Our data supports the hypothesis that the ClC-7 antiporter plays a critical role in maintaining lysosomal pH.

Published
2019

11. Full-Threshold Actively-Secure Multiparty Arithmetic Circuit Garbling

Author

Makri, Eleftheria, Wood, Tim, Goos, Gerhard, Founding Editor, Hartmanis, Juris, Founding Editor, Bertino, Elisa, Editorial Board Member, Gao, Wen, Editorial Board Member, Steffen, Bernhard, Editorial Board Member, Woeginger, Gerhard, Editorial Board Member, Yung, Moti, Editorial Board Member, Longa, Patrick, editor, and Ràfols, Carla, editor

Published
2021
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14. Floating PV Systems as an Alternative Power Source: Case Study on Three Representative Islands of Indonesia

Author

Esparza, Ignacio, primary, Olábarri Candela, Ángela, additional, Huang, Luofeng, additional, Yang, Yifeng, additional, Budiono, Chayun, additional, Riyadi, Soegeng, additional, Hetharia, Wolter, additional, Hantoro, Ridho, additional, Setyawan, Dony, additional, Utama, I. K. A. P., additional, Wood, Tim, additional, and Luo, Zhenhua, additional

Published
2024
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15. Effectiveness of 2023 Southern Hemisphere Influenza Vaccines Against Hospitalization and Intensive Care Unit Admission – Pooled Estimates from Eight Countries Using the Test-Negative Design

Author

Gharpure, Radhika, primary, Regan, Annette, additional, Nogareda, Francisco, additional, Cheng, Allen C., additional, Blyth, Christopher C., additional, St George, Siobhan, additional, Huang, Sue, additional, Wood, Tim, additional, Anglemyer, Andrew, additional, Prasert, Kriengkrai, additional, Praphasiri, Prabda, additional, Davis, William W., additional, Pittayawonganon, Chakrarat, additional, Ercole, Regina, additional, Iturra, Analia, additional, Ferreira de Almeida, Walquiria Aparecida, additional, de Paula Júnior, Francisco José, additional, Avendaño Vigueras, Marcela, additional, Olivares Barraza, Maria Fernanda, additional, Domínguez, Chavely, additional, Penayo, Elena, additional, Goñi, Natalia, additional, Tritten, Daiana, additional, Couto, Paula, additional, Salas, Daniel, additional, Fowlkes, Ashley L., additional, Duca, Lindsey M., additional, Azziz-Baumgartner, Eduardo, additional, and Sullivan, Sheena G., additional

Published
2024
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17. Troubling metaphor

Author

Wood, Tim

Subjects
Philosophy and religion
Abstract

While the story told in Carl Winderl's poem 'back in the day' (December) of shepherds handling the death of a newborn (by stripping its skin, etc.) may be common knowledge [...]

Published
2024

18. Mindfulness Teacher Trainees' Experiences (MTTE): An investigation of intense experiences in mindfulness-based interventions.

Author

Jönhagen, Erik, Wood, Tim, Niemi, Maria, and Galante, Julieta

Subjects
*MINDFULNESS, *TEACHERS, *MEDITATION, *PSYCHOSES
Abstract

With the increasing interest in mindfulness practices within clinical as well as non-clinical settings and the increasing body of research on the positive effects of mindfulness, concerns have been raised that mindfulness might also produce adverse effects including intense experiences and psychosis. The aim of this study was to investigate if intense experiences occur as a natural part of mindfulness practice, and if so to examine the characteristics of such experiences. We conducted a qualitative analysis based on fortnightly meditation reports from 13 mindfulness teacher trainees for 4 months. Intense experiences in meditation were frequently expressed in the reports of most of the practitioners and in some individuals these experiences were similar to psychotic-like experiences. This study presents suggestive evidence that mindfulness practices can produce intense experiences and that for some individuals these intense experiences may resemble psychotic-like experiences. [ABSTRACT FROM AUTHOR]

Published
2024
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19. MArBled Circuits: Mixing Arithmetic and Boolean Circuits with Active Security

Author

Rotaru, Dragos, Wood, Tim, Goos, Gerhard, Founding Editor, Hartmanis, Juris, Founding Editor, Bertino, Elisa, Editorial Board Member, Gao, Wen, Editorial Board Member, Steffen, Bernhard, Editorial Board Member, Woeginger, Gerhard, Editorial Board Member, Yung, Moti, Editorial Board Member, Hao, Feng, editor, Ruj, Sushmita, editor, and Sen Gupta, Sourav, editor

Published
2019
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20. Error Detection in Monotone Span Programs with Application to Communication-Efficient Multi-party Computation

Author

Smart, Nigel P., Wood, Tim, Hutchison, David, Series Editor, Kanade, Takeo, Series Editor, Kittler, Josef, Series Editor, Kleinberg, Jon M., Series Editor, Mattern, Friedemann, Series Editor, Mitchell, John C., Series Editor, Naor, Moni, Series Editor, Pandu Rangan, C., Series Editor, Steffen, Bernhard, Series Editor, Terzopoulos, Demetri, Series Editor, Tygar, Doug, Series Editor, and Matsui, Mitsuru, editor

Published
2019
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22. Protocol for direct reporting of awareness in maternity patients (DREAMY): a prospective, multicentre cohort study of accidental awareness during general anaesthesia

Author

A'Court, Alicja, Abdel-Gadir, Dina, Abdu, Ayman, Abisogun, Caroline, Aboud, Zainab, Abrams, Judith, Ackerman, Andrea, Adamso, Christine, Addison, Rachel, Adeyeye, Adedayo, Adler, Rachel, Aduse-Poku, Maame, Adyanthaya, Siddharth, Ahmad, Najmiah, Ahmed, Dabeeruddeen, Ahmed, Atif, Akindele, Bucky, Akindele, Olubukola, Akrimi, Sonia, Al-Rawi, Samar, Ali, Yousif, Allam, Jo, Allana, Alisha, Allen, Kellie, Allen, Orlanda, Amaradasa, Natasha, Amarasekara, Lareina, Amoakwa-adu, Freda, Anandageetha, Padmanabhan, Anandakrishnan, Suresh, Anandanadesan, Rathai, Anderson, Michelle, Apps, Simon, Aquilina, Audrey, Arbane, Gill, Arch, Alice, Armstrong, Sarah, Arya, Rita, Ashiru, Gloria, Ashpole, Keri, Atkinson, Claire, Atkinson, Francesca, Auer, Elizabeth, Avery, Ben, Babio-Galan, Maite, Bader, Hareth, Badham, George, Bagchi, Subha, Bailey, Sarah, Baird, Yolanda, Balaka, Cristina, Baldwin, Melissa, Balfour, Paul, Bali, Shreya, Banks, Samantha, Barclay, Philip, Barnes, Lucy, Barnes, Thomas, Barot, Niraj, Barrett, Stephen, Barrett, Venetia, Barrett, Kate, Bates, Louise, Batte, Katherine, Baytug, Beki, Behravesh, Mona, Bell, Suzanne, Benloch, Raul, Bentley, Richard, Berg, Jennifer, Berwick, Charlotte, Berwick, Richard, Bhadange, Rashmi, Bhattacharyya, Sanjoy, Bielskute, Egidija, Birch, Sian, Bird, Scott, Bird, Ruth, Birts, William, Black, Becky, Blagova, Tatyana, Blake, Holly, Blightman, Oliver, Blunden, Susara, Bolton, Richard, Borkett-Jones, Caroline, Boselli, John, Bowen, Manuella, Bowen, Ruth, Bowye, James, Boyle, Henry, Brar, Zameen, Bray, Jo, Brayshaw, Samantha, Bressington, Catherine, Brewer, Alison, Brice, Naomi, Bridge, Laura, Briscoe, James, Brocklesby, Sonia, Brown, Harry, Brown, Sarah, Brunnen, Derek, Burijintichenna, Keshavareddy, Burnard, Sara, Burtt, Agnieszka, Buswell, Victoria, Bykar, Hannah, Cairney, Matthew, Calvert, Clare, Camarasa, Laura, Campbell, Natasha, Campbell-Jones, Frederick, Cantliffe, Jane, Carrol, William, Carvalho, Joanna, Cashell, Catherine, Cassie, Sarah, Cassim, Kadu, Chandler, Marika, Chapman, Rachel, Charles, Robert, Chen, Ping, Cheyne, Deanne, Chima, Kiran, Chin, Floju, Chirvasuta, Radu, Shao Chong, Martin, Choudhury, Sadia, Chowdhury, Priyakam, Christmas, Tracey, Chughwani, Shilpa, Ciechanowicz, Sarah, Clarey, Emma, Coe, Rob, Cohen, Jolyon, Coker, Nicholas, Collins, Karen, Collis, Lauren, Comar, Jasna, Conroy, Marianne, Constantin, Kathy, Corfe, Jeremy, Coulborn, Elaine, Cowie, Vanessa, Crone, Rachel, Cronin, James, Crooks, Jennifer, Crowther, Nicola, Crowther, Elizabeth, Cruz, Carina, Curtis, Alexa, Curtis, Sarah, Curtis, Sam, Dabrowicz, Adrian, Daines, Nick, Dalal, Viral, Dannatt, Peter, Das, Dinesh, Dash, Jennifer, Davidson, Katherine, Davies, Sarah, Davis, Yvette, Dawson, James, Dean, Jonathan, Dean, Caroline, Denman, Jane, Desai, Neel, Dewan, Preeti, Dimont, Sarah, Donovan, Clare, Doraiswami, Mano, Doughty, Kate, Douglass, Jamie, Dower, Michelle, Downing, Samantha, Duberry, Wendy, Duckham, Emily, Dudgeon, Lucy, Dukes, Stephanie, Dunn, Leigh, Duraiswamy, Venkat, O' Dwyer, Anthony, Dyer, Kristyn, Eapen, Suresh, Earl, Mark, Eason, Sally, Edwards, Kylie-Ellen, Edwards, Zara, Egole, Osinachi, Ekpa, John, El-Amin, Olivia, El-Boghdadly, Kariem, Elbasir, Okba, Eldridge, James, Elgie, Laura, Ellington, Matt, Elliott, Katharine, Elliott, Justine, Elmi, Mohamed, Elnoumeir, Ramy, Emeakaraoha, Eunice, Evans, Matt, Everett, Mary, Fabb, Philippa, Farooq, Hadia, Farrimond, Rohan, Faulds, Fiona, Fawcett, Erik, Feneley, Andrew, Fernando, Dinushi, Ferns, Janis, Finlay, Claire, Fitzgerald, Simon, O'Flaherty, Doireann, Fleet, Mark, Fletcher, Lydia, Fludder, Vanessa, Follet, Terri, Forbes, Jane, Forth, Mark, Foster, Greg, Francis, John, Fraser, Kate, Friedman, Lauren, Fruggeri, Luca, Fulton, Laura, Funnell, Sam, Gadre, Amit, Gandhi, Ajay, Gardiner, Harriet, Garner, Zoe, Garvey, Gráinne, Gately, Tom, George, Richard, Gillespie, Siobhan, Glover, Stephanie, Goddard, Jennifer, Goodman, Ben, Gopal, Tarikere, Graham, George, Green, David, Griffin, Denise, Griffith, Jessica, Grigsby, Stephanie, Grindey, Julie, Griffiths, Huw, Groome, Jonathan, Grother, Christine, Grounds, Gabrielle, Groves, Alice, Guha, Abhik, Gunawardhana, Amila, Gupta, Aman, Gupta, Rekha, Gutsell, James, Haddon, Richard, Hadi, Dina, Hadjipavlou, Nicola, Hammerbeck, Henry, Hammon, Laura, Hammond, Sarah, Hampanna, Hampesh, Hancock, Holly, Handapangoda, Hemantha, Haroon-Mowahed, Yumna, Harpham, Dawn, Harris, Grant, Harrison, Abigail, Harshan, Divya, Hartopp, Andrew, Harty, Eoin, Haslam, Nick, Hawkins, Gemma, Hawkins, Edith, Hawksey, Sarah, Hays, Carole, Hazelton, Tracy, Heavyside, Andrew, Hemeson, Chibuzo, Henderson, Katrina, Henry, Oliver, Herbert, Lara, Higgins, Nikki, Hilton, James, Hindmoor, Claire, Hitchcock, Rachael, Hobbs, Laura, Homsy, Michele, Honeywell, Cassandra, Hoque, Nazima, House, Kirsty, Howle, Ryan, Tiller, Amanda, Huniak, Matthew, Hunte, Jeremy, Husain, Tauqeer, Huson, Coralie, Hussain, Catriona, Hussain, Tawhida, Hussein, Zainab, Hyams, Jeremy, Hyde, Eleanor, Iaverdino, Marina, Ignacka, Alex, Innes, Erin, Ioannidis, Stefanos, Iqbal, Rehana, Ismail, Fahja, Jackson, Jenny, Jackson, Michael, Jackson, Guy, Jacobs, Robyn, Jadhav, Poonam, Jalaly, Aisha, James, Lorraine, James, Monica, Jani, Surekha, Jeganathan, Chandran, Joannides, Claire, Johnson, Robert, Johnson, Thosa, Johnston, Carolyn, Jones, Reeanne, Jones, Tom, Kadr, Miran, Kainth, Rasmeet, Kane, Jenna, Kanji, Rafiq, Kannanparambil, Sunil, Kar, Girish, Kasianandan, Theanalli, Kaskos, Husam, Kavanagh, Lisa, Kaye, Richard, Kelliher, Leith, Kelliot, Serena, Kelly, Jemma, Kelly, Jenna, Kenyon, Carol, Kessack, Laura, Kestner, Samuel, Khaku, Mohammed, Khaleeq, Sophia, Khan, Pervaz, Khan, Sabeen, Kidwai, Usamah, King, Christopher, King, Helen, Kingston, Elizabeth, Kok, Waisun, Konig, Rebekka, Konstantinova, Zheyna, Krishnan, Priya, Kua, Justin, Kuntumalla, Kavitha, Kursumovic, Emira, Kurzatkowski, Krzysztof, Kuttambakam, Hariprasad, Lane, Katherine, Lane, Sophie, Langton, Andrew, Latif, Hamad, Lau, Norlan, Laxman, Shyam, Laycock, Helen, Lee, Rachel, Leonardi, Silvia, Light, Karen, Lightfoot, Heidi, Liu, Shuang, Liyanage, Sanduni, Lowe, Jessica, Lucas, Nuala, Lungu, Miyoba, Lunn, Marianne, Lynes, Heather, Machavarapu, Kishore, Mackenzie, Matthew, Major, Jonathan, Male, Victoria, Malik, Zain, Manso, Katarina, Maquinana, Myrna, Marciniak, Katarzyna, Maronge, Lizzie, Marsh, Chris, Martella, Carmela, Martin, Nicki, Martins, Nicole, Marway, Jaspreet, Mason, Louisa, Mason, Lucy, Masood, Nadia, Masters, James, Maton-Howarth, Matthew, Mazzola, Francesca, McAllister, Tamsin, McCarthy, Rachel, McCormick, Claire, McCready, Sharon, McDougall, Steffan, Mcewan, Lorna, McGarry, Jon, McKevitt, Helen, Mckinley, Stephanie, Mckskeane, Anna, McMaster, Eloise, McMonagle, Martina, McNamara, Helen, McPhee, Hannah, McRae, Laura, Mead, Dee, Meadows, Emma, Mehta, Madhur, Meikle, Joanne, Metodiev, Yavor, Michael, Chloe, Millar, Victoria, Miller, Sarah, Miller, Gregg, Milne, Sezanne, Miltsios, Kostas, Misquita, Lucia, Misquita, Simone, Mittal, Manasi, Mohamed, Mohamed, Powell Monaghan, Katherine, Monk, Joanna, Monkhouse, Alexandra, Monks, David, Montague, Laura, Moon, Angela, Moran, Jennifer, Moreton, Annette, Morgan, Endaf, Morgan, Oliver, Morland, Danny, Morosan, Monica, Morris, Kimberley, Morris, Andrea, Moser, Clare, Mount, Manulella, Muir, Carol, Mupudzi, McDonald, Murali, Mayur, Murdoch, Iona, Murray, Heather, Murray, Theresa, Murrell, Karen, Narasimha Murthy, Girish, Neeley, Diana, Nei, Hannah, Neil, Kerry, Nejim, Tara, Nel, Mark, Nicholson, Anne, Nicklin, Angela, Nolan, Catherine, Nolan, Tracey, Nurmi, Eveliina, O'Neill, Bridie, Oakes, Christie, Oakes, Neil, Ochoa-Ferraro, Maria, Odeleye, Nike, Oliver, Katy, Oliver, Mark, Onslow, Julie, Onwochei, Desire, Oommen, Thomas, Orr, Tim, Osagie, Osato, Osborn, Hannah, Overend, Jennie, Owston, Hazel, Pack, Emma, Padhi, Pulak, Palani, Prabvathy, Pandey, Rajesh, Pandya, Dhruti, Panesar, Navjot, Papageorgiou, Con, Papanastasiou, Georgios, Papoutsos, Costas, Pararajasingham, Suji, Parry, James, Patel, Hasita, Patel, Jaishel, Patel, Jiten, Patel, Kaumudi, Patel, Kiran, Patel, Mitul, Patel, Reshma, Patel, Ruchira, Patel, Nimisha, Pathak, Sangeeta, Pearson, Fiona, Peciulene, Viktorija, Peers, Beth, Peirce, Benjamin, Pepper, Stacey, Perinpanayagam, Jasmina, Perry, Hollie, Petrova, Nadya, Phillips, Trudie, Phillips, Sioned, Phylactides, Leonidas, Pilkington, Felicity, Plumb, James, Poimenidi, Evangelia, Sau Kuk Poon, Anna, Potter, Thomas, Poultney, Una, Powell, Lucy, Prenter, Andrew, Preston, Katie, Price, Anna, Pritchard, Naomi, Pullen, Jenny, Purohit, Manishi, Quamina, Charlotte, Qureshi, Jibran, Rajput, Zahra, Ramage, Stephen, Ramanathan, Tamilselvi, Ranasinghe, Upeka, Ranatunga, Kalum, Rand, Abby, Randive, Seema, Rangarajan, Desikan, Rao, Chandana, Rao Pelluri, Sambasiva, Ratnasingham, Antony, Razzaque, Jamil, Reddy, Anuvidya, Redington, Katie, Reel, Emma, Remeta, Peter, Ricco, Francesca, Riccoboni, Anna, Rice, Polly, Rich, Mel, Richards, Nicole, Riches, Joanne, Ripoll, Simon, Roberts, Fleur, Roberts, Kitty, Robins, Kay, Robinson, Susie, Roche, Samantha, Rojo, Maria, Carmela Romano, Milena, Rosser, Hilary, Roughley, Lindsay, Routley, Catriona, Rowley, Christine, Rudra, Pallab, Russell, Robin, Ryan, Christine, Saad, Chloe, Sadeghi, Abtin, Salberg, Armorel, Samuel, Matt, Samuels, Rebecca, Sanapala, Suresh, Sanusi, Seliat, Sarao, Sarbpreet, Sathyabhama, Sathyabhama, Saunders, Zoe, Sawarzynska-ryszka, Bernadetta, Sceales, Panagiota, Sceales, Penny, Schumacher, Natasha, Schwartz, Nuala, Sellers, Claudia, Sellers, Heather, Sellick, Jessica, Sen, Soumen, Senaratne, Dhaneesha, Senbeto, Sarah, Seneviratna, Dineth, Setty, Thunga, Shah, Raj, Shah, Sonia, Shambly, James, Sharafudeen. Imran Sharieff, Saju, Sharifi, Laurence, Sharpe, Lisa, Shaw, Michael, Sheldrake, Ian, Shinde, Priya, Shonfeld. Jonathon Short, Adam, Siah, Julian, Sibug. Omar Siddique, Sheena, Siew, Sara, Simpson, Matthew, Singleton, Georgina, Sinha, Kathryn, Sinha, Aneeta, Sinnott, Matthew, Sivadhas, Harry, Sivakumar, Sivanth, Sivarajan, Boopathi, Sivarajan, Sinduja, Skeoch, Chris, Slade, Samuel, Slater, Paul, Smith, Camilla, Smith, Carys, Smith, Christopher, Smith, James, Smith, Lorraine, Smith, Annika, Smith, Edward, Smith, Ruth, Smith, Sue, Smith, Tim, Smithers, Helen, Smolen, Sue, Smyth, Claire, Snel, Toni, Snipe, Carol, Soltanifar, Sam, Sonawane, Nilesh, Soundararaja, Andal, Spence, Emily, Spiliopoulos, Mark, Srivastava, Chhavi, Stacey, Karen, Stafford, Helena, Staines, Nikki, Stead, Richard, Stevens, Emma, Stilwell, Alex, Stocks, Gary, Stokes, Aaron, Stone, Christopher, Straughan, Ben, Subbarathnam, Vanitha, Sudunagunta, Srinath, Sultan, Pervez, Suppiah, Puvan, Surve, Priyanka, Sutherland, Angus, Swanton, Rob, Swarbrick, Claire, Swinson, Amy, Syrrakou, Eleni, Tadbiri, Shahrzad, Tamhane, Preetam, Tamilselvan, Perumal, Tan, Andrew, Tanna, Shamil, Tarft, Hayley, Tarry, Laura, Taylor, Ian, Taylor, Suzanne, Tebbot, Julie, Theron, Svetlana, Thomas, Megan, Todd, Sarah, Tolliday, Hermione, Topham, Charlotte, Tovell, Nicholas, Traves, Martyn, Trodd, Dawn, Tufchi, Aseem, Turley, Katie, Turnbull, Marc, Turnbull, Chris, Turner, Oliver, Turner, William, Turney, Sharon, Tyagi, Eleanor, Uncles, David, Unsworth, Vanessa, Vadnere, Pradnya, Varadan, Rama, Vasishta, Vik, Veal, Andrew, Vedham, Lalitha, Venkaya, Jessica, Verghese, Miriam, Veronica, Icel, Vidanagamage, Dinesh, Vincent, Rachel, Vyapury, Vinodhan, Wain, Harris, Walbridge, Fiona, Walker, Elaine, Walsh, Pete, Walshe, Eleanor, Walters, Michelle, Wan, Yize, Wang, Cherry, Wankhade, Kavita, Waters, Gareth, Watts, Christopher, Webber, Alex, Wedgwood, Tom, Wee, Michael, Wellstead, Susan, White, Alison, Whitear, Michael, Whitefield, Lucy, Wilkinson, Sarah, Williams, Lauren, Williams, Rhys, Wilson, Dawn, Wilson, Samantha, Wimble, Katie, Winkley, Elaine, Winslow, Luke, Winwright, Paul, Wloch, Karolina, Wong, Gideon, Wong, Hannah, Man Wong, Jan, Wood, Tim, Wray, Sarah, Wrench, Ian, Wu, James, Wynn, Kynn, Yap, Yeng, Kuan Yeow, Chia, Young, Emily, Yusaf, Alex, Uz Zafar, Saeed, Zeinali, Darius, Zhang, Sheldon, Zope, Sarvesh, Zucco, Liana, Anwar, Sibtain, Blunt, Nadia, Cronin, John, Grover, Vimal, Grailey, Kate, Grey, Martin, Highton, David, Hopkins, Phil, Kemp, Harriet, Lo, Queenie, Martin, Daniel, Morkane, Clare, O'Carroll, James, Oliver, Charles, Post, Benjamin, Visram, Anil, Wickham, Alex, Odor, P.M., Bampoe, S., Lucas, D.N., Moonesinghe, S.R., Andrade, J., and Pandit, J.J.

Published
2020
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23. ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Author

Ng, Bobby G, Shiryaev, Sergey A, Rymen, Daisy, Eklund, Erik A, Raymond, Kimiyo, Kircher, Martin, Abdenur, Jose E, Alehan, Fusun, Midro, Alina T, Bamshad, Michael J, Barone, Rita, Berry, Gerard T, Brumbaugh, Jane E, Buckingham, Kati J, Clarkson, Katie, Cole, F Sessions, O'Connor, Shawn, Cooper, Gregory M, Coster, Rudy, Demmer, Laurie A, Diogo, Luisa, Fay, Alexander J, Ficicioglu, Can, Fiumara, Agata, Gahl, William A, Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A, He, Miao, Jaeken, Jaak, James, Philip M, Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J, Lachlan, Katherine, Lam, Christina, Yaplito‐Lee, Joy, Nickerson, Deborah A, Peters, Heidi L, Race, Valerie, Régal, Luc, Rush, Jeffrey S, Rutledge, S Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E, Trapane, Pamela, Sanchez‐Valle, Amarilis, Vilain, Eric, Vøllo, Arve, Waechter, Charles J, Wang, Raymond Y, Wolfe, Lynne A, Wong, Derek A, Wood, Tim, Yang, Amy C, Genomics, University of Washington Center for Mendelian, Matthijs, Gert, and Freeze, Hudson H

Subjects
Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Pediatric, Clinical Research, Rare Diseases, Genetics, 2.1 Biological and endogenous factors, Aetiology, Biomarkers, Congenital Disorders of Glycosylation, Female, Genes, Lethal, Glycosylation, Humans, Male, Mannosyltransferases, Mutation, Polysaccharides, Sequence Analysis, DNA, Survival Analysis, CDG, asparagine-linked glycosylation protein 1, carbohydrate-deficient transferrin, xeno-tetrasaccharide, University of Washington Center for Mendelian Genomics, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over 100 genes leading to impaired protein or lipid glycosylation. ALG1 encodes a β1,4 mannosyltransferase that catalyzes the addition of the first of nine mannose moieties to form a dolichol-lipid linked oligosaccharide intermediate required for proper N-linked glycosylation. ALG1 mutations cause a rare autosomal recessive disorder termed ALG1-CDG. To date 13 mutations in 18 patients from 14 families have been described with varying degrees of clinical severity. We identified and characterized 39 previously unreported cases of ALG1-CDG from 32 families and add 26 new mutations. Pathogenicity of each mutation was confirmed based on its inability to rescue impaired growth or hypoglycosylation of a standard biomarker in an alg1-deficient yeast strain. Using this approach we could not establish a rank order comparison of biomarker glycosylation and patient phenotype, but we identified mutations with a lethal outcome in the first two years of life. The recently identified protein-linked xeno-tetrasaccharide biomarker, NeuAc-Gal-GlcNAc2 , was seen in all 27 patients tested. Our study triples the number of known patients and expands the molecular and clinical correlates of this disorder.

Published
2016

25. Reducing Communication Channels in MPC

Author

Keller, Marcel, Rotaru, Dragos, Smart, Nigel P., Wood, Tim, Hutchison, David, Series Editor, Kanade, Takeo, Series Editor, Kittler, Josef, Series Editor, Kleinberg, Jon M., Series Editor, Mattern, Friedemann, Series Editor, Mitchell, John C., Series Editor, Naor, Moni, Series Editor, Pandu Rangan, C., Series Editor, Steffen, Bernhard, Series Editor, Terzopoulos, Demetri, Series Editor, Tygar, Doug, Series Editor, Weikum, Gerhard, Series Editor, Catalano, Dario, editor, and De Prisco, Roberto, editor

Published
2018
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28. Impact of the COVID‐19 related border restrictions on influenza and other common respiratory viral infections in New Zealand.

Author

Huang, Q. Sue, Turner, Nikki, Wood, Tim, Anglemyer, Andrew, McIntyre, Peter, Aminisani, Nayyereh, Dowell, Tony, Trenholme, Adrian, Byrnes, Cass, Balm, Michelle, McIntosh, Christine, Jefferies, Sarah, Grant, Cameron C., Nesdale, Annette, Dobinson, Hazel C., Campbell‐Stokes, Priscilla, Daniells, Karen, Geoghegan, Jemma, de Ligt, Joep, and Jelley, Lauren

Subjects
RESPIRATORY infections, RESPIRATORY syncytial virus infections, INFLUENZA, PARAINFLUENZA viruses, VIRUS diseases, PANDEMIC preparedness, INFECTIOUS disease transmission
Abstract

Background: New Zealand's (NZ) complete absence of community transmission of influenza and respiratory syncytial virus (RSV) after May 2020, likely due to COVID‐19 elimination measures, provided a rare opportunity to assess the impact of border restrictions on common respiratory viral infections over the ensuing 2 years. Methods: We collected the data from multiple surveillance systems, including hospital‐based severe acute respiratory infection surveillance, SHIVERS‐II, ‐III and ‐IV community cohorts for acute respiratory infection (ARI) surveillance, HealthStat sentinel general practice (GP) based influenza‐like illness surveillance and SHIVERS‐V sentinel GP‐based ARI surveillance, SHIVERS‐V traveller ARI surveillance and laboratory‐based surveillance. We described the data on influenza, RSV and other respiratory viral infections in NZ before, during and after various stages of the COVID related border restrictions. Results: We observed that border closure to most people, and mandatory government‐managed isolation and quarantine on arrival for those allowed to enter, appeared to be effective in keeping influenza and RSV infections out of the NZ community. Border restrictions did not affect community transmission of other respiratory viruses such as rhinovirus and parainfluenza virus type‐1. Partial border relaxations through quarantine‐free travel with Australia and other countries were quickly followed by importation of RSV in 2021 and influenza in 2022. Conclusion: Our findings inform future pandemic preparedness and strategies to model and manage the impact of influenza and other respiratory viral threats. [ABSTRACT FROM AUTHOR]

Published
2024
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30. Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs

Author

Ellsworth, Katarzyna A., Pollard, Laura M., Cathey, Sara, Wood, Tim, Baumgartner, Matthias R., Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, Zschocke, Johannes, Series editor, and Baumgartner, Matthias, editor

Published
2017
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31. Modular Verification of Procedure Equivalence in the Presence of Memory Allocation

Author

Wood, Tim, Drossopolou, Sophia, Lahiri, Shuvendu K., Eisenbach, Susan, Hutchison, David, Series editor, Kanade, Takeo, Series editor, Kittler, Josef, Series editor, Kleinberg, Jon M., Series editor, Mattern, Friedemann, Series editor, Mitchell, John C., Series editor, Naor, Moni, Series editor, Pandu Rangan, C., Series editor, Steffen, Bernhard, Series editor, Terzopoulos, Demetri, Series editor, Tygar, Doug, Series editor, Weikum, Gerhard, Series editor, and Yang, Hongseok, editor

Published
2017
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32. When It’s All Just Too Much: Outsourcing MPC-Preprocessing

Author

Scholl, Peter, Smart, Nigel P., Wood, Tim, Hutchison, David, Series editor, Kanade, Takeo, Series editor, Kittler, Josef, Series editor, Kleinberg, Jon M., Series editor, Mattern, Friedemann, Series editor, Mitchell, John C., Series editor, Naor, Moni, Series editor, Pandu Rangan, C., Series editor, Steffen, Bernhard, Series editor, Terzopoulos, Demetri, Series editor, Tygar, Doug, Series editor, Weikum, Gerhard, Series editor, and O'Neill, Máire, editor

Published
2017
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34. Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation

Author

Marshall, Lauren S, Simon, Julie, Wood, Tim, Peng, Mei, Owen, Renius, Feldman, Gary S, and Zaragoza, Michael V

Abstract

Abstract Background Global developmental delay and mental retardation are associated with X-linked disorders including Hunter syndrome (mucopolysaccharidosis type II) and Fragile X syndrome (FXS). Single nucleotide mutations in the iduronate 2-sulfatase (IDS) gene at Xq28 most commonly cause Hunter syndrome while a CGG expansion in the FMR1 gene at Xq27.3 is associated with Fragile X syndrome. Gene deletions of the Xq27-28 region are less frequently found in either condition with rare reports in females. Additionally, an association between Xq27-28 deletions and skewed X-inactivation of the normal X chromosome observed in previous studies suggested a primary role of the Xq27-28 region in X-inactivation. Case presentation We describe the clinical, molecular and biochemical evaluations of a four year-old female patient with global developmental delay and a hemizygous deletion of Xq27.3q28 (144,270,614-154,845,961 bp), a 10.6 Mb region that contains >100 genes including IDS and FMR1. A literature review revealed rare cases with similar deletions that included IDS and FMR1 in females with developmental delay, variable features of Hunter syndrome, and skewed X-inactivation of the normal X chromosome. In contrast, our patient exhibited skewed X-inactivation of the deleted X chromosome and tested negative for Hunter syndrome. Conclusions This is a report of a female with a 10.6 Mb Xq27-28 deletion with skewed inactivation of the deleted X chromosome. Contrary to previous reports, our observations do not support a primary role of the Xq27-28 region in X-inactivation. A review of the genes in the deletion region revealed several potential genes that may contribute to the patient’s developmental delays, and sequencing of the active X chromosome may provide insight into the etiology of this clinical presentation.

Published
2013

42. Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome)

Author

Siddiqui, Amna, primary, Dundar, Halil, additional, Sharma, Jyoti, additional, Kaczmarczyk, Aneta, additional, Echols, Josh, additional, Dai, Yanying, additional, Sun, Chuanxi Richard, additional, Du, Ming, additional, Liu, Zhong, additional, Zhao, Rui, additional, Wood, Tim, additional, Sanders, Shalisa, additional, Rasmussen, Lynn, additional, Bostwick, James Robert, additional, Augelli-Szafran, Corinne, additional, Suto, Mark, additional, Rowe, Steven M., additional, Bedwell, David M., additional, and Keeling, Kim M., additional

Published
2023
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47. Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism

Author

Colonna, Maxwell B, primary, Moss, Tonya, additional, Mokashi, Sneha, additional, Srikanth, Sujata, additional, Jones, Julie R, additional, Foley, Jackson R, additional, Skinner, Cindy, additional, Lichty, Angie, additional, Kocur, Anthony, additional, Wood, Tim, additional, Stewart, Tracy Murray, additional, Casero Jr., Robert A, additional, Flanagan-Steet, Heather, additional, Edison, Arthur S, additional, Lyons, Michael J, additional, and Steet, Richard, additional

Published
2022
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