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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

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

7. 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

11. Imprinting disorders

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

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

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

17. Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

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

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

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

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

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

26. 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

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

28. 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

31. Germline selection shapes human mitochondrial DNA diversity

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

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

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

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

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

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

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

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

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