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1. The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.

2. Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

4. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

5. A Quality Assessment of the ARM-Net Registry Design and Data Collection

6. Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals

7. A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

8. De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.

9. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

10. Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.

11. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

12. A Quality Assessment of the ARM-Net Registry Design and Data Collection

13. Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study

14. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

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

18. ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks

19. Jansen‐de Vries syndrome: Expansion of thePPM1Dclinical and phenotypic spectrum in 34 families

20. Elucidating the clinical and molecular spectrum ofSMARCC2-associated NDD in a cohort of 65 affected individuals

21. A complex structural variant near SOX3 causes X-linked split-hand/foot malformation

22. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

23. Supplementary Appendix 2 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

24. Supplementary Appendix 1 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

25. All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience

26. Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant

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

30. Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

31. MissenseMED12variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

32. Clinical Genetics

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

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

37. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

40. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

43. Involvement of MAP3K7 in FMD2 and CSCF, delineation of genotype/phenotype correlations.

44. Variant location is a novel risk factor for individuals with arrhythmogenic cardiomyopathy due to a desmoplakin (DSP) truncating variant

45. Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers

46. De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

47. Heterozygous and homozygous variants in STX1Acause a neurodevelopmental disorder with or without epilepsy

48. 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

49. Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder

50. Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

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