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2. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

3. Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (Nature Communications, (2021), 12, 1, (1078), 10.1038/s41467-020-20496-3).

4. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.

5. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

6. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.

8. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

9. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

10. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

11. Novel diagnostic guidelines for prediction of variant spliceogenicity derived from a set of 311 combined in silico and in vitro studies: an international collaborative effort

12. IDENTIFICATION OF A FIRST AND MAJOR GENE FOR ACQUIRED EPILEPTIC APHASIA (LANDAU-KLEFFNER SYNDROME) AND RELATED CHILDHOOD FOCAL EPILEPSIES AND ENCEPHALOPATHIES WITH SPEECH AND LANGUAGE DYSFUNCTION

13. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

14. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

15. Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers

16. IDENTIFICATION OF A FIRST AND MAJOR GENE FOR ACQUIRED EPILEPTIC APHASIA (LANDAU-KLEFFNER SYNDROME) AND RELATED CHILDHOOD FOCAL EPILEPSIES AND ENCEPHALOPATHIES WITH SPEECH AND LANGUAGE DYSFUNCTION

17. Association of PHB 1630 C > T and MTHFR 677 C > T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

18. Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

19. Whole‐exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome

20. Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study.

21. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

22. Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: Results from a multicenter study

23. Association of PHB 1630 C > T and MTHFR 677 C > T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

24. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

25. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

26. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

27. O9 – 2019 Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

28. Encéphalopathies épileptiques précoces et mutations de novo de KCNQ2 : large spectre phénotypique. Une étude multicentrique de 15 patients

30. NovelKCNQ2andKCNQ3Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

31. Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management.

32. Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement.

33. Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort.

34. SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.

35. Identification and Characterization of an Exonic Duplication in PALB2 in a Man with Synchronous Breast and Prostate Cancer.

36. Identification and Characterization of New Alu Element Insertion in the BRCA1 Exon 14 Associated with Hereditary Breast and Ovarian Cancer.

37. Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

38. TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

39. Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.

40. Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.

41. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

42. Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.

43. Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

44. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

45. Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.

46. West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1.

48. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

49. Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

50. Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

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