Sophie Smith

ORCID: 0000-0002-9755-5437
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About
Contact & Profiles
Research Areas
  • Maternal Mental Health During Pregnancy and Postpartum
  • Genomic variations and chromosomal abnormalities
  • Cancer Genomics and Diagnostics
  • Pregnancy and Medication Impact
  • Biomedical Ethics and Regulation
  • Rangeland and Wildlife Management
  • Pharmacovigilance and Adverse Drug Reactions
  • Healthcare Policy and Management
  • Posttraumatic Stress Disorder Research
  • Maternal and Perinatal Health Interventions
  • Migration, Health and Trauma
  • Interprofessional Education and Collaboration
  • Global Health and Surgery
  • Genomics and Rare Diseases
  • Global Maritime and Colonial Histories
  • Gout, Hyperuricemia, Uric Acid
  • African history and culture studies
  • LGBTQ Health, Identity, and Policy
  • Mind wandering and attention
  • Chronic Lymphocytic Leukemia Research
  • CRISPR and Genetic Engineering
  • Healthcare cost, quality, practices
  • Occupational Therapy Practice and Research
  • Children's Rights and Participation
  • Family Support in Illness

Genomics England
2021-2023

University of Bristol
2022-2023

McGill University
2022

Health Education North West
2022

Health Education England
2022

Centre for Mental Health
2022

University Hospitals Sussex NHS Foundation Trust
2022

Midlands Arts Centre
2022

Ohio Department of Transportation
2020

Bournemouth University
2016

Genome sequencing was first offered clinically in the UK through 100,000 Genomes Project (100KGP). Analysis restricted to predefined gene panels associated with patient's phenotype. However, rely on clearly characterised phenotypes and risk missing diagnoses outside of panel(s) applied. We propose a complementary method rapidly identify pathogenic variants, including those missed by 100KGP methods.

10.1007/s00439-022-02509-x article EN cc-by Human Genetics 2022-12-07

Abstract Autosomal recessive whole gene deletions of nephrocystin-1 ( NPHP1 ) result in abnormal structure and function the primary cilia. These can a tubulointerstitial kidney disease known as nephronophthisis retinal (Senior–Løken syndrome) neurological (Joubert diseases. Nephronophthisis is common cause end-stage (ESKD) children up to 1% adult onset ESKD. Single nucleotide variants (SNVs) small insertions (Indels) have been less well characterised. We used pathogenicity scoring system...

10.1038/s41598-023-32169-4 article EN cc-by Scientific Reports 2023-06-09

10.12968/ijtr.2016.23.11.553 article EN International Journal of Therapy and Rehabilitation 2016-11-02

10.1136/bmj.1.1066.880 article EN BMJ 1881-06-04

Abstract Objective The objective of this study was to employ ensemble clustering and tree-based risk model approaches identify interactions between clinicogenomic features for colorectal cancer using the 100,000 Genomes Project. Results Among 2211 patients with (mean age diagnosis: 67.7; 59.7% male), 16.3%, 36.3%, 39.0% 8.4% had stage 1, 2, 3 4 cancers, respectively. Almost every patient surgery (99.7%), 47.4% chemotherapy, 7.6% radiotherapy 1.4% immunotherapy. On average, tumour mutational...

10.1186/s13104-021-05789-0 article EN cc-by BMC Research Notes 2021-10-02

10.1080/0047729x.2021.2024671 article EN Midland History 2022-01-02

When children and young people (CYP) report their own suspected adverse drug reactions (ADRs), different patterns of drugs symptoms are noted. A new guide to reporting ADRs using the Medicines Healthcare Products Regulatory Agency (MHRA) Yellow Card scheme was developed by CYP, paediatric clinical pharmacology, Centres MHRA.An anonymous quality improvement project assess for CYP undertaken (September 2020-February 2021).The survey completed 234 age 13-18 years. Within respondents, 68/226...

10.1136/archdischild-2021-323400 article EN Archives of Disease in Childhood 2022-03-15

Consanguinity is defined as the result of a sexual reproduction two related individuals, but may also reference populations that share common ancestor or communities practise endogamy. There higher prevalence genetic anomalies offspring consanguineous relationships. However, habit blaming ethnic minorities for their own conditions unhelpful and has detrimental consequences families children.This article discusses some issues to unions link congenital abnormalities perceived increase in...

10.7748/ldp.2019.e1957 article EN Learning Disability Practice 2019-01-25

This study aimed to investigate the emotional experience of breastfeeding mothers; compare their emotions during day and night; identify predictors maternal states. 107 women completed daytime nighttime online surveys. Mothers reported a more positive session. During day, state was most strongly predicted by perceived degree family’s support, followed mother’s mental health, overall sleep quality, child’s age, age immigrant status. In contrast, only associated with better subjectively rated...

10.31234/osf.io/cbwj5 preprint EN 2022-01-29

Nightmares are intense emotional experiences that can greatly alter sleep quality and affect most people at some point in their lives. Yet little research has focused on the relationship between nightmares subjective experience of quality. In this study, we aimed investigating nightmare frequency, duration, estimation need perceived debt. We found related to altered perception: frequent sufferers report same amount as those who do not have nightmares, yet they a greater That is, believe more...

10.31234/osf.io/8zvpb preprint EN 2022-01-28

The International Journal of Integrated Care (IJIC) is an online, open-access, peer-reviewed scientific journal that publishes original articles in the field integrated care on a continuous basis.IJIC has Impact Factor 2.913 (2021 JCR, received June 2022)The IJIC 20th Anniversary Issue was published 2021.

10.5334/ijic.icic22193 article EN cc-by International Journal of Integrated Care 2022-11-04

<h3>Introduction/Background</h3> Mass effect from a pelvic mass predisposes to venostasis in the lower limbs, increasing risk of deep vein thrombosis and pulmonary embolus. Additionally, malignancy creates hypercoagulable state vulnerability venous thromboembolism (VTE). Gynaecological is closely associated with VTE prevalence 27% women ovarian cancer prior treatment. We investigate proportion presenting an found on imaging. Current guidance National Institute for Health Care Excellence...

10.1136/ijgc-2022-esgo.185 article EN cc-by Diagnostics 2022-10-01
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