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| 37882884 | Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice. | Adv Ther | 2024 |
| 36797513 | TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature. | Am J Med Genet A | 2023 |
| 37505496 | Prevalence of Hearing Loss and Hearing Aid Use Among US Medicare Beneficiaries Aged 71 Years and Older. | JAMA Netw Open | 2023 |
| 37877951 | Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers. | J Neurosurg Pediatr | 2023 |
| 35354337 | Postnatal Progressive Craniosynostosis in Syndromic Conditions: Two Patients With Saethre-Chotzen Due to <i>TWIST1</i> Gene Deletions and Review of the Literature. | Cleft Palate Craniofac J | 2023 |
| 37061874 | Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia. | Genet Med | 2023 |
| 37280669 | Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers. | Orphanet J Rare Dis | 2023 |
| 36444396 | Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening. | Mol Genet Genomic Med | 2023 |
| 32752906 | Molecular testing strategies in the evaluation of fetal skeletal dysplasia. | J Matern Fetal Neonatal Med | 2022 |
| 35342457 | Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies. | Ther Adv Musculoskelet Dis | 2022 |
| 36480544 | Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome. | PLoS Genet | 2022 |
| 36107167 | Growth parameters in children with achondroplasia: AÂ 7-year, prospective, multinational, observational study. | Genet Med | 2022 |
| 35138050 | Experiences of children and adolescents living with achondroplasia and their caregivers. | Mol Genet Genomic Med | 2022 |
| 34708868 | Otolaryngology Utilization in Patients With Achondroplasia: Results From the CLARITY Study. | Laryngoscope | 2022 |
| 34493544 | Biallelic variants of <i>ATP13A3</i> cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality. | J Med Genet | 2022 |
| 34431071 | Pharmacokinetics and Exposure-Response of Vosoritide in Children with Achondroplasia. | Clin Pharmacokinet | 2022 |
| 34837063 | International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. | Nat Rev Endocrinol | 2022 |
| 34801144 | Multidisciplinary Care of Neurosurgical Patients with Genetic Syndromes. | Neurosurg Clin N Am | 2022 |
| 33446226 | Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia. | Orphanet J Rare Dis | 2021 |
| 33545406 | Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history. | Bone | 2021 |
| 33496070 | CLARITY: Co-occurrences in achondroplasia-craniosynostosis, seizures, and decreased risk of diabetes mellitus. | Am J Med Genet A | 2021 |
| 34487414 | Current state of the art in treatment of Mendelian disease: Skeletal dysplasias. | Am J Med Genet A | 2021 |
| 33939509 | Medicare Beneficiaries With Self-Reported Functional Hearing Difficulty Have Unmet Health Care Needs. | Health Aff (Millwood) | 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 |
| 34006999 | Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States. | Genet Med | 2021 |
| 32457214 | Health Supervision for People With Achondroplasia. | Pediatrics | 2020 |
| 31729121 | Blood pressure in adults with short stature skeletal dysplasias. | Am J Med Genet A | 2020 |
| 32891212 | Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. | Lancet | 2020 |
| 32580780 | Best practice guidelines for management of spinal disorders in skeletal dysplasia. | Orphanet J Rare Dis | 2020 |
| 32567802 | Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder. | Autism Res | 2020 |
| 30696995 | Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders. | Genet Med | 2019 |
| 31587486 | Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high-density SNP array to map homozygosity and identify the gene. | Am J Med Genet A | 2019 |
| 31269546 | C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. | N Engl J Med | 2019 |
| 30783897 | A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development. | J Autism Dev Disord | 2019 |
| 30672094 | Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2. | Am J Med Genet A | 2019 |
| 29276006 | WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. | Am J Hum Genet | 2018 |
| 30048634 | Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia. | Am J Obstet Gynecol | 2018 |
| 30276962 | Multicenter study of mortality in achondroplasia. | Am J Med Genet A | 2018 |
| 29450837 | Associations Between the 2nd to 4th Digit Ratio and Autism Spectrum Disorder in Population-Based Samples of Boys and Girls: Findings from the Study to Explore Early Development. | J Autism Dev Disord | 2018 |
| 27866314 | Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias. | Qual Life Res | 2017 |
| 28474983 | Endoscopic surgery for patients with syndromic craniosynostosis and the requirement for additional open surgery. | J Neurosurg Pediatr | 2017 |
| 28374958 | A height-for-age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data. | Am J Med Genet A | 2017 |
| 28346496 | Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. | PLoS Genet | 2017 |
| 28321190 | Skeletal Dysplasias: Growing Therapy for Growing Bones. | Front Pharmacol | 2017 |
| 29100092 | Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". | Am J Hum Genet | 2017 |
| 28777491 | Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. | Am J Med Genet A | 2017 |
| 28763154 | Best practices in peri-operative management of patients with skeletal dysplasias. | Am J Med Genet A | 2017 |
| 26754314 | Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?". | Am J Med Genet A | 2016 |
| 26394886 | Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy. | Am J Med Genet A | 2016 |
| 26394714 | Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. | Am J Med Genet A | 2016 |