1 - Leigh Jackson - Beyond Clinical Genetics; clinical coding and healthcare usage of individuals with inherited cancer predisposition in primary care -an exploratory study using UK Biobank

2 - Irene de Boer - Cognitive and functional impairment and psychiatric morbidity and their correlation to MRI findings in RVCL-S

3 - Frances Elmslie - Mosaicism in Tuberous Sclerosis Complex - outcomes of a UK national audit

4 - Carlijn Hoekx - Hidden in the introns: WGS reveals LINE-1 Insertion leading to RARS2-deficiency

5 - Arjan Houweling - Birt-Hogg-Dubé syndrome and Pulmonary Arterial Hypertension: An update on a decade of clinical and genetic observations in the Dutch centres of expertise

6 - Katalin Juhasz - Usher syndrome type 1B with co-occurring neuropsychiatric comorbidities

7 - Milou Kennis - Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder and normal intelligence

8 - Maxime van Keulen - A catalogue of pathogenic variants in familial atrial fibrillation derived from a systematic literature review

9 - Jessica Rosenblum - Cortical Malformation Broadens the Phenotype of PIP5K1C-Related Disorder

10 - Chikako Tomozawa - Clinical profiling of postzygotic mosaicism in hereditary cancer genes: analysis of 27 individuals in 18 families

11 - Lisanne Vendrig - A GWAS meta-analysis to uncover the molecular aetiology of posterior urethral valves.

12 - Maribel Verdesoto Rodriguez - A diagnosis of Poretti-Boltshauser syndrome due to uniparental disomy

13 - Wenneke van Weelden - Three generation family with Chung-Jansen syndrome

14 - Maayke de Koning - Diagnostic yield and clinical impact of Prenatal Exome Sequencing in the Netherlands

15 - Iris Lekkerkerker - The genetic landscape of CAKUT: preliminary results from a WGS study

16 - Alice Garrett - Cancer Variant Interpretation Group UK (CanVIG-UK) in 2026: updates on an exemplar national subspecialty multidisciplinary network

17 - Katja Verbeek - Cost Analysis of Cancer Surveillance Versus Cancer Treatment in PTEN Hamartoma Tumor Syndrome: EU PREVENTABLE Project

18 - Helen Hanson - Clinical Recommendations for the management of familial chordoma

19 * - Michael Carter - A service evaluation of whole genome sequencing in primary brain tumours at a tertiary UK Neuro-oncology centre: closing the gaps

20 - Mia Keating - Mainstreaming whole genome sequencing in Paediatrics: A service evaluation assessing the impact of mainstreaming WGS and subsequent impact on a Clinical genetics service

21 - Isa Faassen - Influence of non-sex specific risk factors on the development of a dilated cardiomyopathy in men and women with a titin truncating variant

22 - Aimee Green - Does the Leeds Clinical Genomics Service (LCGS) VHL Clinic meet the UKCGG recommended guidelines for VHL syndrome surveillance? An audit on clinical compliance and service evaluation.

23 - Suzan Knottnerus - RCEM Episignature: Refining the Phenotype in Three New Cases

24 - Katie Snape - UK National Mosaic Variegated Aneuploidy Audit

25 - Charlie Rowlands - Constructing benign truthsets for validation of MAVEs: current status and a novel systematic approach for empowerment of PS3

27 - Bethany Torr - The ‘BRCA-DIRECT’ testing pathway: overview of study outcomes from direct-to-patient testing across different contexts (1. hospital-based breast cancer mainstreaming, 2. retrospective cancer patients ascertained via record linkage, and 3. Jewish population testing)

28 - Francesca Ververs - X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia or N-linked glycosylation defect (XMEN) in a female patient

29 - Patricia Wells - Does the facial dysmorphism associated with Fetal Valproate Spectrum Disorder vary with dose of exposure, polytherapy, gestational timing or patient age? – A literature review.

30 - Salwa Ben Yahia - First report of a biallelic POLD1 variant carrier with synchronous colorectal cancer and polyposis