Synome (United Kingdom)

Recent papers from Synome (United Kingdom)

1. Access to Genetic Testing in Patients with Suspected Genetic Kidney Disease in EuropeKidney International Reports · 2026
2. Health-related quality of life after risk-reducing hysterectomy: a randomised vignette studyGynecologic Oncology · 2026
3. Recommendations for the use of clinical outcome assessments in rare disease drug developmentEClinicalMedicine · 2026
4. Chronic idiopathic urinary retention and Fowler's syndrome in women: A multidisciplinary framework for assessment and nonsurgical managementBJUI Compass · 2026
5. Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated CriteriaAmerican Journal of Medical Genetics Part A · 2026
6. Case Report: Low-frequency tibial nerve stimulation: demonstrating a novel therapeutic option for Fowler’s syndrome through a pilot case seriesFrontiers in Urology · 2026
7. Experiences of patients and public partners in codesign of Lynch Choices™: an evaluation study using the Patient Engagement In Research Scale (PEIRS-22)Research Involvement and Engagement · 2026
8. Codevelopment of a complex intervention to reduce inequalities in paediatric diabetes secondary care outcomes for children with type 1 diabetes from underserved groupsBMJ Open · 2025
9. Alström syndrome: the journey to diagnosisOrphanet Journal of Rare Diseases · 2025
10. Caregiver burden and therapeutic needs in Dravet syndrome - A national UK cross-sectional questionnaire studyENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) · 2024
11. Fowler’s syndrome—Patient led phenotyping of 265 patientsContinence · 2024
12. Characterisation of the coexistence between sarcoidosis and Sjögren's syndrome. Analysis of 43 patientsClinical and Experimental Rheumatology · 2022
13. Dlk1 dosage regulates hippocampal neurogenesis and cognitionProceedings of the National Academy of Sciences · 2021
14. Learning and reaction times in mouse touchscreen tests are differentially impacted by mutations in genes encoding postsynaptic interacting proteins SYNGAP1, NLGN3, DLGAP1, DLGAP2 and SHANK2Genes Brain & Behavior · 2020
15. Kisspeptin-54 Accurately Identifies Hypothalamic Gonadotropin-Releasing Hormone Neuronal Dysfunction in Men with Congenital Hypogonadotropic HypogonadismNeuroendocrinology · 2020
16. Architecture of the Mouse Brain SynaptomeNeuron · 2018
17. Enhanced cognition and dysregulated hippocampal synaptic physiology in mice with a heterozygous deletion of PSD‐95European Journal of Neuroscience · 2017
18. Arc Requires PSD95 for Assembly into Postsynaptic Complexes Involved with Neural Dysfunction and IntelligenceCell Reports · 2017
19. Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferationScientific Reports · 2017
20. PSD95 nanoclusters are postsynaptic building blocks in hippocampus circuitsScientific Reports · 2016