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Expert survey: safer research with parent survivors of child maltreatmentIntergenerational trauma research typically focuses on parent survivors. No specific guidelines are available for conducting research with parent survivors despite potentially unique risks. To investigate research safety with parent survivors, we conducted an online survey of 38 researchers regarding experiences of parent survivors in their research, precautions taken, ethical review experiences, and researchers’ mental health during the project(s).
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The relationship between pitch contours in infant-directed speech and early signs of autism in infancyMother-infant interactions during the first year of life are crucial to healthy infant development. The infant-directed speech (IDS), and specifically pitch contours, used by mothers during interactions are associated with infant language and social development.
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Fine-grained Fidgety Movement Classification using Active LearningTypically developing infants, between the corrected age of 9-20 weeks, produce fidgety movements. These movements can be identified with the General Movement Assessment, but their identification requires trained professionals to conduct the assessment from video recordings.
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Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorderPathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy.
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Disruption of cotranscriptional splicing suggests that RBM39 is a therapeutic target in acute lymphoblastic leukemiaThere are few options for patients with relapse/refractory B-cell acute lymphoblastic leukemia, thus this is a major area of unmet medical need. Here, we reveal that inclusion of a poison exon in RBM39, which could be induced both by CDK9 or CDK9 independent CMGC (cyclin-dependent kinases, mitogen-activated protein kinases, glycogen synthase kinases, CDC-like kinases) kinase inhibition, is recognized by the nonsense-mediated mRNA decay pathway for degradation.

The research of the Translational Genetics team is focussed on providing molecular analysis of genetic variants (gene mutations), to better inform the early and accurate diagnosis of children living with genetic and rare diseases.
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Acute Rheumatic Fever and Rheumatic Heart DiseaseAcute Rheumatic Fever and Rheumatic Heart Disease is a concise, yet comprehensive, clinical resource highlighting must-know information on rheumatic heart disease and acute rheumatic fever from a global perspective
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Cochrane corner: interventions to prevent hearing loss caused by noise at workThe aim of this Cochrane Review was to find out if hearing loss caused by noise at work is being prevented by current interventions
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Examining parent use of specific intervention techniques during a 12-week training program based on the Early Start Denver ModelThis study included five mothers of young children with autism who participated in a 12-week parent training program based on the Early Start Denver Model
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Diverse Anti-Tumor Immune Potential Driven by Individual IFNα SubtypesOur data shows that the expression of distinct IFNα subtypes within the tumor microenvironment results in different anti-tumor activities