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1. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

3. Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS

5. Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence

6. Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

8. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

9. Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency

10. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

11. Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

13. Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes– a collaborative multicentre endeavour within the project Solve-RD

16. Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers

18. Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

19. Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome

22. Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome

23. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

25. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

26. Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence

27. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

28. Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome

29. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

30. Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

31. Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

32. Wnt genes in colonic polyposis predisposition

33. Additional file 2 of Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence

35. Solving unsolved rare neurological diseases-a Solve-RD viewpoint

36. Wnt genes in colonic polyposis predisposition

37. Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome

38. Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome

39. Germline mutations inWNK2could be associated with serrated polyposis syndrome

40. Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence

41. Germline mutations in WNK2 could be associated with serrated polyposis syndrome.

42. Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis

43. First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants

44. Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

45. Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence 2022.01.20.22269585

46. Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

47. Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes– a collaborative multicentre endeavour within the project Solve-RD

49. Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence 2022.01.20.22269585

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