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1. ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome

2. International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents

4. Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

5. Author Correction: International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents

6. Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement

8. Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort

9. Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort

10. Imprinting disorders

13. Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants

14. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

15. Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service

18. Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD

19. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

20. First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

21. Description and cross-sectional analyses of 25,880 adults and children in the UK National Registry of Rare Kidney Diseases cohort

23. Wilms tumour surveillance in at-risk children: Literature review and recommendations from the SIOP-Europe Host Genome Working Group and SIOP Renal Tumour Study Group

24. Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial

25. Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort

26. Germline selection shapes human mitochondrial DNA diversity

29. Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement

30. Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant - A first report

31. Dysregulation at multiple points of the kynurenine pathway is a ubiquitous feature of renal cancer: implications for tumour immune evasion

35. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

38. Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

41. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

42. X-linked cataract and Nance-Horan syndrome are allelic disorders

43. Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.

45. PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins

46. When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta‐analysis.

48. Eye

49. Musculoskeletal System

50. Skin

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