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1. Real-world evidence in achondroplasia: considerations for a standardized data set

4. Most Fractures Treated Nonoperatively in Individuals With Fibrodysplasia Ossificans Progressiva Heal With a Paucity of Flareups, Heterotopic Ossification, and Loss of Mobility

5. EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence

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

7. Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP)

9. Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome

10. Growth charts in Cockayne syndrome type 1 and type 2

11. Self-reported baseline phenotypes from the International Fibrodysplasia Ossificans Progressiva (FOP) Association Global Registry

14. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

18. Real-world evidence in achondroplasia:considerations for a standardized data set

19. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

20. The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva

21. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

22. Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

24. Craniovertebral Junction Anomalies in Achondroplastic Children

25. Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study

27. Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review

28. Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling

29. Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.

30. Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies

31. EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence

32. Author response: EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence

33. Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology (Nature Communications, (2020), 11, 1, (4589), 10.1038/s41467-020-18146-9)

34. Craniovertebral Junction Anomalies in Achondroplastic Children

35. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

36. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations

37. Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome

39. Familial Gigantism Caused by an NSD1 Mutation

40. Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP)

41. Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP).

42. Pre and post-natal achondroplasia, retrospective series of 64 consecutives cases with analyze of the diagnostic methods and timing issues

44. Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes

45. Anatomical and functional abnormalities on MRI in kabuki syndrome

46. Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP)

47. The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva

48. Childhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations

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