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  1. Article ; Online: Primary ciliary dyskinesia as a common cause of bronchiectasis in the Canadian Inuit population.

    Morris-Rosendahl, Deborah J

    Pediatric pulmonology

    2023  Volume 58, Issue 9, Page(s) 2437–2438

    MeSH term(s) Humans ; Inuit ; Canada/epidemiology ; Bronchiectasis/epidemiology ; Bronchiectasis/etiology ; Kartagener Syndrome/complications ; Ciliary Motility Disorders/complications ; Ciliary Motility Disorders/epidemiology
    Language English
    Publishing date 2023-06-06
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 632784-9
    ISSN 1099-0496 ; 8755-6863
    ISSN (online) 1099-0496
    ISSN 8755-6863
    DOI 10.1002/ppul.26529
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    Zs.A 2143: Show issues Location:
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  2. Article ; Online: COPD in the chromosomes.

    Cockbain, Beatrice / Morris-Rosendahl, Deborah / Corrigan, Adele / Hind, Matthew David

    Thorax

    2022  

    Language English
    Publishing date 2022-05-12
    Publishing country England
    Document type Journal Article
    ZDB-ID 204353-1
    ISSN 1468-3296 ; 0040-6376
    ISSN (online) 1468-3296
    ISSN 0040-6376
    DOI 10.1136/thoraxjnl-2022-218782
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  3. Article ; Online: Cystic Fibrosis Lung Disease Modifiers and Their Relevance in the New Era of Precision Medicine.

    Sepahzad, Afsoon / Morris-Rosendahl, Deborah J / Davies, Jane C

    Genes

    2021  Volume 12, Issue 4

    Abstract: Our understanding of cystic fibrosis (CF) has grown exponentially since the discovery of the cystic fibrosis transmembrane conductance regulator ( ...

    Abstract Our understanding of cystic fibrosis (CF) has grown exponentially since the discovery of the cystic fibrosis transmembrane conductance regulator (
    MeSH term(s) Cystic Fibrosis/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Genes, Modifier ; Genome-Wide Association Study ; Humans ; Mutation
    Chemical Substances CFTR protein, human ; Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6)
    Language English
    Publishing date 2021-04-13
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes12040562
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  4. Article ; Online: A novel variant in the PTPN11 gene c.1277A>G p.(His426Arg) in a patient with Noonan Syndrome with Multiple Lentigines.

    Kuo, Olivia / Molloy, Kevin / Sabir, Ataf / Fleming, Andrew / Edwards, Matthew / Morris-Rosendahl, Deborah / Fassihi, Hiva / Preston, Philip

    Clinical and experimental dermatology

    2024  

    Language English
    Publishing date 2024-04-18
    Publishing country England
    Document type Journal Article
    ZDB-ID 195504-4
    ISSN 1365-2230 ; 0307-6938
    ISSN (online) 1365-2230
    ISSN 0307-6938
    DOI 10.1093/ced/llae121
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    Zs.A 1278: Show issues Location:
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  5. Article ; Online: Neurodevelopmental disorders-the history and future of a diagnostic concept
.

    Morris-Rosendahl, Deborah J / Crocq, Marc-Antoine

    Dialogues in clinical neuroscience

    2020  Volume 22, Issue 1, Page(s) 65–72

    Abstract: This article describes the history of the diagnostic class of neurodevelopmental disorders (NDDs) up to DSM-5. We further analyze how the development of genetics will transform the classification and diagnosis of NDDs. In DSM-5, NDDs include intellectual ...

    Abstract This article describes the history of the diagnostic class of neurodevelopmental disorders (NDDs) up to DSM-5. We further analyze how the development of genetics will transform the classification and diagnosis of NDDs. In DSM-5, NDDs include intellectual disability (ID), autism spectrum disorder (ASD), and attention-deficit/hyperactivity disorder (ADHD). Physicians in German-, French- and English-speaking countries (eg, Weikard, Georget, Esquirol, Down, Asperger, and Kanner) contributed to the phenomenological definitions of these disorders throughout the 18th and 20th centuries. These diagnostic categories show considerable comorbidity and phenotypic overlap. NDDs are one of the chapters of psychiatric nosology most likely to benefit from the approach advocated by the National Institute of Mental Health's Research Domain Criteria project. Genetic research supports the hypothesis that ID, ASD, ADHD, schizophrenia, and bipolar disorder lie on a neurodevelopmental continuum. The identification of recurrently observed copy number variants and disruptive gene variants in ASD (eg, CDH8, 16p11.2, SCN2A) led to the adoption of the genotype-first approach to characterize individuals at the etiological level.
.
    MeSH term(s) Diagnostic and Statistical Manual of Mental Disorders ; Forecasting ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Neurodevelopmental Disorders/diagnosis ; Neurodevelopmental Disorders/history
    Language English
    Publishing date 2020-07-22
    Publishing country England
    Document type Historical Article ; Journal Article ; Review
    ZDB-ID 2188781-0
    ISSN 1958-5969 ; 1294-8322
    ISSN (online) 1958-5969
    ISSN 1294-8322
    DOI 10.31887/DCNS.2020.22.1/macrocq
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  6. Article ; Online: A Novel Bead-Capture Nanopore Sequencing Method for Large Structural Rearrangement Detection in Cancer.

    Fisher, Chloe L / Dillon, Richard / Anguita, Eduardo / Morris-Rosendahl, Deborah J / Awan, Ali R

    The Journal of molecular diagnostics : JMD

    2022  Volume 24, Issue 12, Page(s) 1264–1278

    Abstract: Rapid, cost-effective genomic stratification of structural rearrangements in cancer is often of vital importance when determining treatment; however, existing diagnostic cytogenetic and molecular testing fails to deliver the required speed when deployed ... ...

    Abstract Rapid, cost-effective genomic stratification of structural rearrangements in cancer is often of vital importance when determining treatment; however, existing diagnostic cytogenetic and molecular testing fails to deliver the required speed when deployed at scale. Next-generation sequencing-based methods are widely used, but these can lack sensitivity and require batching of samples to be cost-effective, with long turnaround times. Here we present a novel method for rearrangement detection from genomic DNA based on third-generation long-read sequencing that overcomes these time and cost issues. The utility of this approach for the genomic stratification of patients with acute myeloid leukemia is shown based on detection of four of the most prevalent structural rearrangements. The method not only determines the precise genomic breakpoint for each expected rearrangement but also discovers and validates novel translocations in one-third of the tested samples, 80% of which involve known oncogenes. This method may prove to be a powerful tool for the diagnosis, genomic stratification, and characterization of cancers.
    MeSH term(s) Humans ; Nanopore Sequencing ; Chromosome Aberrations ; High-Throughput Nucleotide Sequencing/methods ; Gene Rearrangement ; Leukemia, Myeloid, Acute/diagnosis ; Leukemia, Myeloid, Acute/genetics
    Language English
    Publishing date 2022-10-13
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2000060-1
    ISSN 1943-7811 ; 1525-1578
    ISSN (online) 1943-7811
    ISSN 1525-1578
    DOI 10.1016/j.jmoldx.2022.09.006
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    Zs.A 5146: Show issues Location:
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  7. Article: Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.

    Jain, Kinshuk / McCarley, Sarah C / Mukhtar, Ghazel / Ferlin, Anna / Fleming, Andrew / Morris-Rosendahl, Deborah J / Shovlin, Claire L

    Journal of clinical medicine

    2023  Volume 13, Issue 1

    Abstract: Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait, due to a single heterozygous loss-of-function variant, usually ... ...

    Abstract Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait, due to a single heterozygous loss-of-function variant, usually in
    Language English
    Publishing date 2023-12-31
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm13010250
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  8. Article: Cystic Fibrosis Lung Disease Modifiers and Their Relevance in the New Era of Precision Medicine

    Sepahzad, Afsoon / Morris-Rosendahl, Deborah J / Davies, Jane C

    Genes. 2021 Apr. 13, v. 12, no. 4

    2021  

    Abstract: Our understanding of cystic fibrosis (CF) has grown exponentially since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989. With evolving genetic and genomic tools, we have come to better understand the role of ... ...

    Abstract Our understanding of cystic fibrosis (CF) has grown exponentially since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989. With evolving genetic and genomic tools, we have come to better understand the role of CFTR genotypes in the pathophysiology of the disease. This, in turn, has paved the way for the development of modulator therapies targeted at mutations in the CFTR, which are arguably one of the greatest advances in the treatment of CF. These modulator therapies, however, do not target all the mutations in CFTR that are seen in patients with CF and, furthermore, a variation in response is seen in patients with the same genotype who are taking modulator therapies. There is growing evidence to support the role of non-CFTR modifiers, both genetic and environmental, in determining the variation seen in CF morbidity and mortality and also in the response to existing therapies. This review focusses on key findings from studies using candidate gene and genome-wide approaches to identify CF modifier genes of lung disease in cystic fibrosis and considers the interaction between modifiers and the response to modulator therapies. As the use of modulator therapies expands and we gain data around outcomes, it will be of great interest to investigate this interaction further. Going forward, it will also be crucial to better understand the relative influence of genomic versus environmental factors. With this understanding, we can truly begin to deliver personalised care by better profiling the likely disease phenotype for each patient and their response to treatment.
    Keywords cystic fibrosis ; cystic fibrosis transmembrane conductance regulator ; genomics ; genotype ; morbidity ; mortality ; pathophysiology ; patients ; phenotype ; precision medicine
    Language English
    Dates of publication 2021-0413
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article
    Note NAL-AP-2-clean
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes12040562
    Database NAL-Catalogue (AGRICOLA)

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  9. Article ; Online: The role of genetics and genomics in clinical psychiatry.

    Hoehe, Margret R / Morris-Rosendahl, Deborah J

    Dialogues in clinical neuroscience

    2018  Volume 20, Issue 3, Page(s) 169–177

    Abstract: The enormous successes in the genetics and genomics of many diseases have provided the basis for the advancement of precision medicine. Thus, the detection of genetic variants associated with neuropsychiatric disorders, as well as treatment outcome, has ... ...

    Abstract The enormous successes in the genetics and genomics of many diseases have provided the basis for the advancement of precision medicine. Thus, the detection of genetic variants associated with neuropsychiatric disorders, as well as treatment outcome, has raised growing expectations that these findings could soon be translated into the clinic to improve diagnosis, the prediction of disease risk and individual response to drug therapy. In this article, we will provide an introduction to the search for genes involved in psychiatric illness and summarize the present findings in major psychiatric disorders. We will review the genetic variants in genes encoding drug metabolizing enzymes and specific drug targets which were found to be associated with variable drug response and severe side effects. We will evaluate the clinical translatability of these findings, whether there is currently any role for genetic testing and in this context, make valuable sources of information available to the clinician seeking guidance and advice in this rapidly developing field of psychiatric genetics.
    MeSH term(s) Genetic Testing/methods ; Genomics/methods ; Humans ; Mental Disorders/genetics ; Pharmacogenetics/methods ; Precision Medicine ; Psychiatry/methods
    Language English
    Publishing date 2018-11-26
    Publishing country France
    Document type Journal Article ; Review
    ZDB-ID 2188781-0
    ISSN 1958-5969 ; 1294-8322
    ISSN (online) 1958-5969
    ISSN 1294-8322
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  10. Article: Are there anxious genes?

    Morris-Rosendahl, Deborah J

    Dialogues in clinical neuroscience

    2011  Volume 4, Issue 3, Page(s) 251–260

    Abstract: Anxiety comprises many clinical descriptions and phenotypes. A genetic predisposition to anxiety is undoubted; however, the nature and extent of that contribution is still unclear. Methods for the genetic analysis of such complex disorders is briefly ... ...

    Abstract Anxiety comprises many clinical descriptions and phenotypes. A genetic predisposition to anxiety is undoubted; however, the nature and extent of that contribution is still unclear. Methods for the genetic analysis of such complex disorders is briefly reviewed, followed by a discussion of the comorbidity of anxiety with other psychiatric disorders and their possible common genetic etiology. Extensive genetic studies of the serotonin (5-hydroxytryptamine, 5-HT) transporter (5-HTT) gene have revealed how variation in gene expression can be correlated with anxiety phenotypes. Complete genome-wide linkage scans for panic disorder (PD) susceptibility genes have suggested a locus on chromosome arm 7p, and association studies have highlighted many candidate genes. A highly significant association between phobias, panic disorder, and a duplication at chromosomal region 15q24-26 is one of the most exciting findings to date. Emerging molecular genetic technologies and the use of increasingly sophisticated animal models of anxiety provide great promise for the future of the field.
    Language English
    Publishing date 2011-10-29
    Publishing country France
    Document type Journal Article
    ZDB-ID 2188781-0
    ISSN 1294-8322
    ISSN 1294-8322
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