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1. CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature

2. Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study

3. Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway

4. De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

5. Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study

7. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

9. Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies

11. Loss-of-function variants inCUL3cause a syndromic neurodevelopmental disorder

12. POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum

13. Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

14. POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum

15. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

16. POU3F3-related disorder:Defining the phenotype and expanding the molecular spectrum

17. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

18. Penetrance and Prognosis of MYH7Variant-Associated Cardiomyopathies

19. Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.

20. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

21. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

22. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

23. Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification

24. Mouse and cellular models of KPTN-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes

26. Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification

27. Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort:The Use of Genetic Testing in Risk Stratification

28. Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification

29. Abstract 18198: A Stepwise Approach Including Whole Exome Sequencing Targeting a Gene Panel for Paediatric Dilated Cardiomyopathy, Potentially Yields a Diagnosis in 50% of Patients

30. Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum

31. A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype

33. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

34. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

35. Lifelines COVID-19 cohort: investigating COVID-19 infection and its health and societal impacts in a Dutch population-based cohort

36. Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

37. Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

38. Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

39. The Lifelines COVID-19 Cohort: a questionnaire-based study to investigate COVID-19 infection and its health and societal impacts in a Dutch population-based cohort

40. ZMYND11 ‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum

41. Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

42. Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

43. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

44. The ARID1B spectrum in 143 patients:from nonsyndromic intellectual disability to Coffin–Siris syndrome

45. Correction:The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (Genetics in Medicine, (2019), 21, 6, (1295-1307), 10.1038/s41436-018-0330-z)

46. Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility.

47. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

48. Biallelic Variants in ASNA1 , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

49. Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

50. A stepwise approach including whole exome sequencing targeting a gene panel for paediatric dilated cardiomyopathy, potentially yields a diagnosis in 50% of patients

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