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1. Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)

2. The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

3. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

4. Real-world prevalence, treatment and survival of “high risk” early breast cancer, with mandatory testing of gBRCA1/2 mutation according to the OlympiA trial inclusion criteria: Data from a population-based registry

5. RNA variant assessment using transactivation and transdifferentiation

6. Systematic analysis of SCN5A variants associated with inherited cardiac diseases

8. Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France

9. Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group

10. Reply to Hsueh YP et al.

11. Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

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

13. Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease

14. Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

15. ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

16. Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

17. Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

19. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

21. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants

22. The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes

23. Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.

24. Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene

25. Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

26. Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

27. Exome sequencing in the etiologic assessment of the stroke of the young

28. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

29. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants

31. Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

32. 2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

33. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

34. Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients

35. Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations

36. Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group

37. Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

38. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants.

39. Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.

40. Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

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

42. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

43. Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

44. The “extreme phenotype approach” applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles

45. Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis

46. The different clinical facets of SYN1-related neurodevelopmental disorders

48. The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay

49. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

50. Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused byTSPYL1variants

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