Search Results - "Morris, Deborah J."

Primary ciliary dyskinesia as a common cause of bronchiectasis in the Canadian Inuit population by Morris‐Rosendahl, Deborah J.

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Metabolomic, transcriptomic and genetic integrative analysis reveals important roles of adenosine diphosphate in haemostasis and platelet activation in non‐small‐cell lung cancer by Hoang, Long T., Domingo‐Sabugo, Clara, Starren, Elizabeth S., Willis‐Owen, Saffron A.G., Morris‐Rosendahl, Deborah J., Nicholson, Andrew G., Cookson, William O. C. M., Moffatt, Miriam F.

“…Lung cancer is the leading cause of cancer‐related deaths in the world. The most prevalent subtype, accounting for 85% of cases, is non‐small‐cell lung cancer…”
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Exploring the Psychosocial and Wellbeing Needs of Staff Accessing Trauma Support in Forensic Mental Health Services in the UK: Relations with Demographic, Occupational and Trauma Event Characteristics by Morris, Deborah J., Webb, Elanor Lucy, Worsfold, Jemima, Greenwood, Annette

“…Healthcare professionals in secure psychiatric services are frequently exposed to service user distress and aggression. Consequently, staff trauma services…”
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What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH) by Morris-Rosendahl, Deborah J., Kaindl, Angela M.

“…The impact that next-generation sequencing technology (NGS) is having on many aspects of molecular and cell biology, is becoming increasingly apparent. One of…”
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CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation by Whiffin, Nicola, Walsh, Roddy, Govind, Risha, Edwards, Matthew, Ahmad, Mian, Zhang, Xiaolei, Tayal, Upasana, Buchan, Rachel, Midwinter, William, Wilk, Alicja E, Najgebauer, Hanna, Francis, Catherine, Wilkinson, Sam, Monk, Thomas, Brett, Laura, O’Regan, Declan P, Prasad, Sanjay K, Morris-Rosendahl, Deborah J, Barton, Paul J R, Edwards, Elizabeth, Ware, James S, Cook, Stuart A

“…Purpose Internationally adopted variant interpretation guidelines from the American College of Medical Genetics and Genomics (ACMG) are generic and require…”
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Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans by Liegel, Ryan P., Handley, Mark T., Ronchetti, Adam, Brown, Stephen, Langemeyer, Lars, Linford, Andrea, Chang, Bo, Morris-Rosendahl, Deborah J., Carpanini, Sarah, Posmyk, Renata, Harthill, Verity, Sheridan, Eamonn, Abdel-Salam, Ghada M.H., Terhal, Paulien A., Faravelli, Francesca, Accorsi, Patrizia, Giordano, Lucio, Pinelli, Lorenzo, Hartmann, Britta, Ebert, Allison D., Barr, Francis A., Aligianis, Irene A., Sidjanin, Duska J.

“…blind sterile (bs) is a spontaneous autosomal-recessive mouse mutation discovered more than 30 years ago. Phenotypically, bs mice exhibit nuclear cataracts and…”
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Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis by Erdélyi, László S, Mann, W Alexander, Morris-Rosendahl, Deborah J, Groß, Ute, Nagel, Mato, Várnai, Péter, Balla, András, Hunyady, László

“…Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a recently discovered rare disease caused by gain-of-function mutations of the V2 vasopressin…”
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Microdeletion 5q14.3 and anomalies of brain development by Hotz, Alrun, Hellenbroich, Yorck, Sperner, Jürgen, Linder-Lucht, Michaela, Tacke, Uta, Walter, Caren, Caliebe, Almuth, Nagel, Inga, Saunders, Dawn E., Wolff, Gerhard, Martin, Peter, Morris-Rosendahl, Deborah J.

“…5q14.3 deletions spanning and flanking MEF2C as well as intragenic MEF2C mutations have recently been described as a cause of severe intellectual disability,…”
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Sources of Distress for Secure Mental Healthcare Staff: A Cross-Sectional Study of the Impact of Personal and Occupational Problems on Psychological Wellbeing and Functioning by Webb, Elanor Lucy, Morris, Deborah J., Khan, Malaika, Al-Refai, Nour

“…Despite a global drive to improve staff well-being in healthcare, distress and absenteeism continue to persist, posing consequences for patient care and…”
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Moral injury in secure mental healthcare: part I: exploratory and confirmatory factor analysis of the Moral Injury Events Scale by Morris, Deborah J., Webb, Elanor Lucy, Trundle, Grace, Caetano, Gabriella

“…In recognition that existing theoretical paradigms may not offer a comprehensive account of the range of occupational stressors and responses experienced by…”
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Moral injury in secure mental healthcare part II: experiences of potentially morally injurious events and their relationship to wellbeing in health professionals in secure services by Morris, Deborah J., Webb, Elanor Lucy, Devlin, Perry

“…Healthcare workers in secure psychiatric settings operate within highly restrictive legal frameworks and are often exposed to ethically complex scenarios. They…”
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Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome by Handley, Mark T., Morris-Rosendahl, Deborah J., Brown, Stephen, Macdonald, Fiona, Hardy, Carol, Bem, Danai, Carpanini, Sarah M., Borck, Guntram, Martorell, Loreto, Izzi, Claudia, Faravelli, Francesca, Accorsi, Patrizia, Pinelli, Lorenzo, Basel-Vanagaite, Lina, Peretz, Gabriela, Abdel-Salam, Ghada M.H., Zaki, Maha S., Jansen, Anna, Mowat, David, Glass, Ian, Stewart, Helen, Mancini, Grazia, Lederer, Damien, Roscioli, Tony, Giuliano, Fabienne, Plomp, Astrid S., Rolfs, Arndt, Graham, John M., Seemanova, Eva, Poo, Pilar, García-Cazorla, Àngels, Edery, Patrick, Jackson, Ian J., Maher, Eamonn R., Aligianis, Irene A.

“…ABSTRACT Warburg Micro syndrome and Martsolf syndrome (MS) are heterogeneous autosomal‐recessive developmental disorders characterized by brain, eye, and…”
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Developmental trauma in a forensic intellectual disability population by Morris, Deborah J, Shergill, Shubhinder, Beber, Elizabeth

“…Purpose People with an intellectual disability (ID) are more at risk of experiencing adverse childhood events. Moreover, prolonged exposure to ACEs results in…”
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The differential and accumulative impacts of self and other sources of moral injury on well-being in mental healthcare staff by Webb, Elanor Lucy, Morris, Deborah J., Lupattelli Gencarelli, Benedetta, Worsfold, Jemima

“…PurposeResearch has established the prevalence and relevance of moral injury in healthcare workers, though less attention has been paid to the different…”
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Neurodevelopmental disorders-the history and future of a diagnostic concept by Morris-Rosendahl, Deborah J., Crocq, Marc-Antoine

“…This article describes the history of the diagnostic class of neurodevelopmental disorders (NDDs) up to DSM-5. We further analyze how the development of…”
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Troubled beginnings: the adverse childhood experiences and placement histories of a detained adolescent population with developmental disorders by Morris, Deborah J, Webb, Elanor Lucy, Parmar, Emma, Trundle, Grace, McLean, Anne

“…Purpose People with developmental disorders are significantly more likely to experience adverse childhood experiences (ACEs), although the impact of ACEs on…”
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Lissencephaly and Band Heterotopia: LIS1, TUBA1A, and DCX Mutations in Hungary by Mokánszki, Attila, Körhegyi, Ivett, Szabó, Nóra, Bereg, Edit, Gergev, Gyurgyinka, Balogh, Erzsébet, Bessenyei, Beáta, Sümegi, Andrea, Morris-Rosendahl, Deborah J., Sztriha, László, Oláh, Éva

“…The spectrum of lissencephaly ranges from absent (agyria) or decreased (pachygyria) convolutions to less severe malformation known as subcortical band…”
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The critical role of affect regulation accounting for increased general distress, risk to self, and lower quality of life in females with EUPD and CPTSD, compared to EUPD alone by Morris, Deborah J, Webb, Elanor Lucy, Umpunjun, Petch, Fox, Emily, Dickens, Amy, Leson, Alice, Sadler, Eleanor, Gencarelli, Benedetta Lupattelli, Taylor, Victoria, McAllister, Peter, Karatzias, Thanos

“…Complex Post-Traumatic Stress Disorder (CPTSD) and Emotionally Unstable Personality Disorder (EUPD) have shared aetiology and symptomatology, and are…”
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LIS1 -associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs by Herbst, Saskia M, Proepper, Christiane R, Geis, Tobias, Borggraefe, Ingo, Hahn, Andreas, Debus, Otfried, Haeussler, Martin, von Gersdorff, Gero, Kurlemann, Gerhard, Ensslen, Matthias, Beaud, Nathalie, Budde, Joerg, Gilbert, Michael, Heiming, Ralf, Morgner, Rita, Philippi, Heike, Ross, Sophia, Strobl-Wildemann, Gertrud, Muelleder, Kerstin, Vosschulte, Paul, Morris-Rosendahl, Deborah J, Schuierer, Gerhard, Hehr, Ute

“…Abstract Background Patients with LIS1 -associated classic lissencephaly typically present with severe psychomotor retardation and drug-resistant epilepsy…”
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Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors? by Poulton, Cathryn J., Schot, Rachel, Seufert, Katja, Lequin, Maarten H., Accogli, Andrea, Annunzio, Giuseppe D', Villard, Laurent, Philip, Nicole, de Coo, René, Catsman-Berrevoets, Coriene, Grasshoff, Ute, Kattentidt-Mouravieva, Anja, Calf, Hans, de Vreugt-Gronloh, Erika, van Unen, Leontine, Verheijen, Frans W., Galjart, Niels, Morris-Rosendahl, Deborah J., Mancini, Grazia M. S.

“…Mutations in WDR62 are associated with primary microcephaly; however, they have been reported with wide phenotypic variability. We report on six individuals…”
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