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  1. Article: COVID-19 vaccination in the UK: is it time to celebrate?

    Phillis, Alison

    British journal of community nursing

    2021  Volume 26, Issue 2, Page(s) 70–75

    MeSH term(s) COVID-19/epidemiology ; COVID-19/prevention & control ; COVID-19 Vaccines ; Humans ; Mass Vaccination/organization & administration ; United Kingdom/epidemiology
    Chemical Substances COVID-19 Vaccines
    Language English
    Publishing date 2021-02-17
    Publishing country England
    Document type Journal Article
    ZDB-ID 2146386-4
    ISSN 1462-4753
    ISSN 1462-4753
    DOI 10.12968/bjcn.2021.26.2.70
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  2. Article: A COVID-19 vaccine-dare to dream.

    Phillis, Alison

    British journal of community nursing

    2020  Volume 25, Issue 12, Page(s) 2–7

    Abstract: The global desire to produce and deploy a safe and effective vaccine to protect against SARS-CoV-2 infection and the morbidity and mortality subsequent to COVID-19 is unprecedented. The unparalleled speed of research development and access to funding is ... ...

    Abstract The global desire to produce and deploy a safe and effective vaccine to protect against SARS-CoV-2 infection and the morbidity and mortality subsequent to COVID-19 is unprecedented. The unparalleled speed of research development and access to funding is perhaps equally unique in the history of therapeutic achievement. This article, the third in a series of dedicated to exploring the origins and developments of SARS-CoV-2 within the context of the strategies of infection prevention and control, investigates the theatre behind the extraordinary efforts underpinning the research for therapeutic interventions to halt the COVID-19 pandemic. The Chair of the UK Vaccine Taskforce has stated that the exit strategy depends on a vaccine that is effective in reducing mortality, improving population health by reducing serious disease and protecting the NHS and social care system. This article introduces the major COVID-19 vaccine contenders and considers the challenges and opportunities of an effective global vaccination strategy.
    MeSH term(s) Biomedical Research/organization & administration ; COVID-19/prevention & control ; COVID-19 Vaccines/administration & dosage ; Drug Development/organization & administration ; Humans ; Organizational Objectives ; Pandemics/prevention & control ; SARS-CoV-2 ; United Kingdom ; Vaccination/methods
    Chemical Substances COVID-19 Vaccines
    Language English
    Publishing date 2020-12-17
    Publishing country England
    Document type Journal Article
    ZDB-ID 2146386-4
    ISSN 1462-4753
    ISSN 1462-4753
    DOI 10.12968/bjcn.2020.25.12.598
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: How the zoonotic origins of SARS-CoV-2 ensure its survival as a human disease.

    Phillis, Alison

    British journal of community nursing

    2020  Volume 25, Issue 11, Page(s) 562–566

    Abstract: In December 2019, a new species of coronavirus (SARS-CoV-2) was identified in a number of patients presenting with pneumonias of unknown aetiology in WuHan Province, China. Early epidemiological indications were of a zoonotic origin: many of the initial ... ...

    Abstract In December 2019, a new species of coronavirus (SARS-CoV-2) was identified in a number of patients presenting with pneumonias of unknown aetiology in WuHan Province, China. Early epidemiological indications were of a zoonotic origin: many of the initial patients confirmed contact with a local wet market and the genomic sequencing showed similar characteristics with coronaviruses known to be carried by bats. The theory of subsequent human to human transmission became evident once global epidemiological reporting of COVID infection was established. Confirmation of the origins of infections caused by SARS-CoV-2 was enabled by the early sharing of the initial genomic sequence by China in January 2020 and since developed collaboratively on a globally accessible database, supported by the World Health Organization (https://tinyurl.com/rj32fp3).
    MeSH term(s) Animals ; Betacoronavirus/genetics ; Biological Evolution ; COVID-19 ; China/epidemiology ; Coronavirus Infections/epidemiology ; Coronavirus Infections/genetics ; Coronavirus Infections/transmission ; Disease Transmission, Infectious ; Genomics ; Humans ; Pandemics ; Pneumonia, Viral/epidemiology ; Pneumonia, Viral/genetics ; Pneumonia, Viral/transmission ; SARS-CoV-2 ; Zoonoses/genetics ; Zoonoses/transmission
    Keywords covid19
    Language English
    Publishing date 2020-11-08
    Publishing country England
    Document type Journal Article
    ZDB-ID 2146386-4
    ISSN 1462-4753
    ISSN 1462-4753
    DOI 10.12968/bjcn.2020.25.11.562
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  4. Article: Coronavirus: the science behind infection control and human exposure.

    Phillis, Alison

    British journal of community nursing

    2020  Volume 26, Issue 1, Page(s) 14–17

    Abstract: Coronavirus SARS-2 (SARS-CoV-2) is the virus responsible for the disease known as COVID-19. The global community is struggling with the health and economic repercussions of this novel disease, and this article is part of a series that seeks to explore ... ...

    Abstract Coronavirus SARS-2 (SARS-CoV-2) is the virus responsible for the disease known as COVID-19. The global community is struggling with the health and economic repercussions of this novel disease, and this article is part of a series that seeks to explore and explain the science behind the foci of infection control measures being considered at both the individual and population health levels. Understanding the factors influencing the ability of this virus to select an appropriate host, breach initial defences and successfully assume a new reservoir from which to disseminate and disperse infective viral particles is considered here. Brief reference is made to infection control measures such as effective hand hygiene, glove usage, environmental decontamination and social distancing guidance against the context of the specific evidence around COVID-19 transmission. Predictors of poorer outcome are introduced in the light of these being target themes for therapeutic development.
    MeSH term(s) Age Factors ; Body Mass Index ; COVID-19/complications ; COVID-19/prevention & control ; COVID-19/transmission ; Diabetes Complications ; Disinfection ; Gloves, Protective ; Hand Hygiene ; Humans ; Infection Control/methods ; Obesity/complications ; Pandemics ; Physical Distancing ; Risk Factors ; SARS-CoV-2/pathogenicity ; SARS-CoV-2/physiology ; SARS-CoV-2/ultrastructure ; Virulence ; Virus Replication
    Language English
    Publishing date 2020-12-27
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2146386-4
    ISSN 1462-4753
    ISSN 1462-4753
    DOI 10.12968/bjcn.2021.26.1.14
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  5. Article: How the zoonotic origins of SARS-CoV-2 ensure its survival as a human disease

    Phillis, Alison

    Br J Community Nurs

    Abstract: In December 2019, a new species of coronavirus (SARS-CoV-2) was identified in a number of patients presenting with pneumonias of unknown aetiology in WuHan Province, China. Early epidemiological indications were of a zoonotic origin: many of the initial ... ...

    Abstract In December 2019, a new species of coronavirus (SARS-CoV-2) was identified in a number of patients presenting with pneumonias of unknown aetiology in WuHan Province, China. Early epidemiological indications were of a zoonotic origin: many of the initial patients confirmed contact with a local wet market and the genomic sequencing showed similar characteristics with coronaviruses known to be carried by bats. The theory of subsequent human to human transmission became evident once global epidemiological reporting of COVID infection was established. Confirmation of the origins of infections caused by SARS-CoV-2 was enabled by the early sharing of the initial genomic sequence by China in January 2020 and since developed collaboratively on a globally accessible database, supported by the World Health Organization (https://tinyurl.com/rj32fp3).
    Keywords covid19
    Publisher WHO
    Document type Article
    Note WHO #Covidence: #916556
    Database COVID19

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  6. Article ; Online: Responsible implementation of expanded carrier screening.

    Henneman, Lidewij / Borry, Pascal / Chokoshvili, Davit / Cornel, Martina C / van El, Carla G / Forzano, Francesca / Hall, Alison / Howard, Heidi C / Janssens, Sandra / Kayserili, Hülya / Lakeman, Phillis / Lucassen, Anneke / Metcalfe, Sylvia A / Vidmar, Lovro / de Wert, Guido / Dondorp, Wybo J / Peterlin, Borut

    European journal of human genetics : EJHG

    2017  Volume 25, Issue 11, Page(s) 1291

    Abstract: This corrects the article DOI: 10.1038/ejhg.2015.271. ...

    Abstract This corrects the article DOI: 10.1038/ejhg.2015.271.
    Language English
    Publishing date 2017-11
    Publishing country England
    Document type Published Erratum
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/ejhg.2017.159
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  7. Article ; Online: Responsible implementation of expanded carrier screening.

    Henneman, Lidewij / Borry, Pascal / Chokoshvili, Davit / Cornel, Martina C / van El, Carla G / Forzano, Francesca / Hall, Alison / Howard, Heidi C / Janssens, Sandra / Kayserili, Hülya / Lakeman, Phillis / Lucassen, Anneke / Metcalfe, Sylvia A / Vidmar, Lovro / de Wert, Guido / Dondorp, Wybo J / Peterlin, Borut

    European journal of human genetics : EJHG

    2016  Volume 24, Issue 6, Page(s) e1–e12

    Abstract: This document of the European Society of Human Genetics contains recommendations regarding responsible implementation of expanded carrier screening. Carrier screening is defined here as the detection of carrier status of recessive diseases in couples or ... ...

    Abstract This document of the European Society of Human Genetics contains recommendations regarding responsible implementation of expanded carrier screening. Carrier screening is defined here as the detection of carrier status of recessive diseases in couples or persons who do not have an a priori increased risk of being a carrier based on their or their partners' personal or family history. Expanded carrier screening offers carrier screening for multiple autosomal and X-linked recessive disorders, facilitated by new genetic testing technologies, and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child in order to facilitate informed reproductive decision making. In previous decades, carrier screening was typically performed for one or few relatively common recessive disorders associated with significant morbidity, reduced life-expectancy and often because of a considerable higher carrier frequency in a specific population for certain diseases. New genetic testing technologies enable the expansion of screening to multiple conditions, genes or sequence variants. Expanded carrier screening panels that have been introduced to date have been advertised and offered to health care professionals and the public on a commercial basis. This document discusses the challenges that expanded carrier screening might pose in the context of the lessons learnt from decades of population-based carrier screening and in the context of existing screening criteria. It aims to contribute to the public and professional discussion and to arrive at better clinical and laboratory practice guidelines.
    MeSH term(s) Decision Making ; Europe ; Genetic Counseling/ethics ; Genetic Counseling/psychology ; Genetic Testing/ethics ; Genetic Testing/standards ; Genetics, Medical/ethics ; Genetics, Medical/organization & administration ; Heterozygote ; Humans ; Practice Guidelines as Topic ; Societies, Medical
    Language English
    Publishing date 2016-03-16
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/ejhg.2015.271
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  8. Article ; Online: De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

    Reijnders, Margot R F / Miller, Kerry A / Alvi, Mohsan / Goos, Jacqueline A C / Lees, Melissa M / de Burca, Anna / Henderson, Alex / Kraus, Alison / Mikat, Barbara / de Vries, Bert B A / Isidor, Bertrand / Kerr, Bronwyn / Marcelis, Carlo / Schluth-Bolard, Caroline / Deshpande, Charu / Ruivenkamp, Claudia A L / Wieczorek, Dagmar / Baralle, Diana / Blair, Edward M /
    Engels, Hartmut / Lüdecke, Hermann-Josef / Eason, Jacqueline / Santen, Gijs W E / Clayton-Smith, Jill / Chandler, Kate / Tatton-Brown, Katrina / Payne, Katelyn / Helbig, Katherine / Radtke, Kelly / Nugent, Kimberly M / Cremer, Kirsten / Strom, Tim M / Bird, Lynne M / Sinnema, Margje / Bitner-Glindzicz, Maria / van Dooren, Marieke F / Alders, Marielle / Koopmans, Marije / Brick, Lauren / Kozenko, Mariya / Harline, Megan L / Klaassens, Merel / Steinraths, Michelle / Cooper, Nicola S / Edery, Patrick / Yap, Patrick / Terhal, Paulien A / van der Spek, Peter J / Lakeman, Phillis / Taylor, Rachel L / Littlejohn, Rebecca O / Pfundt, Rolph / Mercimek-Andrews, Saadet / Stegmann, Alexander P A / Kant, Sarina G / McLean, Scott / Joss, Shelagh / Swagemakers, Sigrid M A / Douzgou, Sofia / Wall, Steven A / Küry, Sébastien / Calpena, Eduardo / Koelling, Nils / McGowan, Simon J / Twigg, Stephen R F / Mathijssen, Irene M J / Nellaker, Christoffer / Brunner, Han G / Wilkie, Andrew O M

    American journal of human genetics

    2018  Volume 102, Issue 6, Page(s) 1195–1203

    Abstract: Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kinase 2 ...

    Abstract Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kinase 2 (TLK2) in 38 unrelated individuals and two affected mothers, using whole-exome and whole-genome sequencing technologies, matchmaker databases, and international collaborations. Affected individuals had a consistent phenotype, characterized by mild-borderline neurodevelopmental delay (86%), behavioral disorders (68%), severe gastro-intestinal problems (63%), and facial dysmorphism including blepharophimosis (82%), telecanthus (74%), prominent nasal bridge (68%), broad nasal tip (66%), thin vermilion of the upper lip (62%), and upslanting palpebral fissures (55%). Analysis of cell lines from three affected individuals showed that mutations act through a loss-of-function mechanism in at least two case subjects. Genotype-phenotype analysis and comparison of computationally modeled faces showed that phenotypes of these and other individuals with loss-of-function variants significantly overlapped with phenotypes of individuals with other variant types (missense and C-terminal truncating). This suggests that haploinsufficiency of TLK2 is the most likely underlying disease mechanism, leading to a consistent neurodevelopmental phenotype. This work illustrates the power of international data sharing, by the identification of 40 individuals from 26 different centers in 7 different countries, allowing the identification, clinical delineation, and genotype-phenotype evaluation of a distinct NDD caused by mutations in TLK2.
    MeSH term(s) Adolescent ; Adult ; Base Sequence ; Cell Line ; Child ; Child, Preschool ; Facies ; Female ; Genetic Association Studies ; Humans ; Infant ; Inheritance Patterns/genetics ; Loss of Function Mutation/genetics ; Male ; Neurodevelopmental Disorders/genetics ; Protein Kinases/genetics ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Translocation, Genetic ; Young Adult
    Chemical Substances RNA, Messenger ; Protein Kinases (EC 2.7.-) ; protein kinase U (EC 2.7.1.-)
    Language English
    Publishing date 2018-05-31
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2018.04.014
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