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| 37882884 | Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice. | Adv Ther | 2024 |
| 37984383 | Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial. | Lancet Child Adolesc Health | 2024 |
| 37061874 | Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia. | Genet Med | 2023 |
| 37924809 | RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation. | Am J Hum Genet | 2023 |
| 37923733 | Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia. | Nat Commun | 2023 |
| 37823031 | Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial. | | 2023 |
| 37877951 | Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers. | J Neurosurg Pediatr | 2023 |
| 37862598 | Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study. | | 2023 |
| 37280669 | Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers. | Orphanet J Rare Dis | 2023 |
| 36768204 | Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency. | | 2023 |
| 36814274 | The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review. | | 2023 |
| 37454964 | Identification of potential non-invasive biomarkers in diastrophic dysplasia. | Bone | 2023 |
| 36807220 | Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III. | | 2023 |
| 35342457 | Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies. | Ther Adv Musculoskelet Dis | 2022 |
| 36107167 | Growth parameters in children with achondroplasia: AÂ 7-year, prospective, multinational, observational study. | Genet Med | 2022 |
| 36087504 | Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa. | Molecular Genetics and Metabolism | 2022 |
| 34801144 | Multidisciplinary Care of Neurosurgical Patients with Genetic Syndromes. | Neurosurg Clin N Am | 2022 |
| 35275892 | Multicenter Series of Deformity Correction Using Guided Growth in the Setting of Osteogenesis Imperfecta. | Journal of Pediatric Orthopaedics | 2022 |
| 35275235 | Collagen X Marker Levels are Decreased in Individuals with Achondroplasia. | Calcified Tissue International | 2022 |
| 34837063 | International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. | Nat Rev Endocrinol | 2022 |
| 34708868 | Otolaryngology Utilization in Patients With Achondroplasia: Results From the CLARITY Study. | Laryngoscope | 2022 |
| 34374819 | Long-term vascular access for infants with moderate to severe osteogenesis imperfecta. | Pediatric Surgery International | 2021 |
| 35548555 | Comprehensive pain management strategy for infants with moderate to severe osteogenesis imperfecta in the perinatal period. | | 2021 |
| 34016138 | Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease. | Orphanet J Rare Dis | 2021 |
| 34006999 | Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States. | Genet Med | 2021 |
| 33608742 | Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography. | Pediatric Radiology | 2021 |
| 33446226 | Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia. | Orphanet J Rare Dis | 2021 |
| 34341520 | Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study. | Genet Med | 2021 |
| 33496070 | CLARITY: Co-occurrences in achondroplasia-craniosynostosis, seizures, and decreased risk of diabetes mellitus. | Am J Med Genet A | 2021 |
| 32891212 | Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. | Lancet | 2020 |
| 31949312 | Defining the clinical phenotype of Saul-Wilson syndrome. | Genet Med | 2020 |
| 31729121 | Blood pressure in adults with short stature skeletal dysplasias. | Am J Med Genet A | 2020 |
| 31769196 | Rhizomelic chondrodysplasia punctata morbidity and mortality, an update. | American Journal of Medical Genetics, Part A | 2020 |
| 31876392 | Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. | Am J Med Genet A | 2020 |
| 34223453 | Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor. | | 2020 |
| 32652690 | Growth in individuals with Saul-Wilson syndrome. | Am J Med Genet A | 2020 |
| 33042901 | Case Report: Safety and Efficacy of Denosumab in Four Children With Noonan Syndrome With Multiple Giant Cell Lesions of the Jaw. | Frontiers in Pediatrics | 2020 |
| 33304945 | Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5. | Bone Reports | 2020 |
| 32524007 | NOVEL MUTATIONS IN AN INFANT WITH MICROCEPHALIC PRIMORDIAL DWARFISM, DILATED CARDIOMYOPATHY, SUBCLINICAL HYPOTHYROIDISM, AND EARLY DEATH: EXPANDING THE PHENOTYPE OF MUTATIONS. | AACE Clinical Case Reports | 2020 |
| 32580780 | Best practice guidelines for management of spinal disorders in skeletal dysplasia. | Orphanet J Rare Dis | 2020 |
| 31169747 | Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results. | Journal of Pediatric Orthopaedics | 2019 |
| 30554721 | GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. | Am J Hum Genet | 2019 |
| 29970925 | Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. | Genet Med | 2019 |
| 30637564 | Prevalence of mental health conditions and pain in adults with skeletal dysplasia. | Quality of Life Research | 2019 |
| 30696995 | Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders. | Genet Med | 2019 |
| 31503224 | Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata. | Journal of Pediatric Orthopaedics | 2019 |
| 31175170 | New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients. | RNA | 2019 |
| 31131341 | A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta. | JBMR Plus | 2019 |
| 30918359 | Mobility in osteogenesis imperfecta: a multicenter North American study. | Genet Med | 2019 |
| 29265708 | The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. | Am J Med Genet A | 2018 |