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1. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

2. Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

4. Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

7. Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

9. Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype

11. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

14. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

15. Whole-genome sequencing of patients with rare diseases in a national health system

18. Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

19. Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene

21. Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

22. Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia

23. Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

24. Publisher Correction:Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)

25. Whole-genome sequencing of a sporadic primary immunodeficiency cohort

29. Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

35. Marked Hemiatrophy in Carriers of Duchenne Muscular Dystrophy

36. A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity

37. Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

40. Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study

44. Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons

46. A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

49. Whole Genome Sequence Analysis of Intensively Ill Children: A Prospective Study of Parent-Child Trios in the UK

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