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1. Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus

4. JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

5. Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort study of achondroplasia in the US

6. Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers

8. Additional file 1 of Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers

9. Additional file 2 of Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers

11. Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers.

12. COHORT 1-4 RESULTS FROM A PHASE 1/2 CLINICAL TRIAL OF AN AAV8-MEDIATED LIVER-DIRECTED GENE THERAPY IN ADULTS WITH GLYCOGEN STORAGE DISEASE TYPE IA (GSDIA)

15. Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

16. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

20. Growth in Achondroplasia Including Stature, Weight, Weight-for-Height and Head Circumference from CLARITY: Achondroplasia Natural History Study— A Multi-Center Retrospective Cohort Study of Achondroplasia in the US

21. Achondroplasia Natural History Study (CLARITY): 60-year experience in cervicomedullary decompression in achondroplasia from four skeletal dysplasia centers

22. NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent.

23. CLARITY: Co‐occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus

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