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| 37619988 | Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome. | | 2024 |
| 37424725 | Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome. | Front Genet | 2023 |
| 36299998 | A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay. | Human Genetics and Genomics Advances | 2023 |
| 37993442 | Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13. | | 2023 |
| 36896612 | Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders. | J Bone Miner Res | 2023 |
| 37017437 | Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63. | | 2023 |
| 37053103 | Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis. | | 2023 |
| 35169139 | Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders. | NPJ Genom Med | 2022 |
| 35842787 | Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation. | Human Mutation | 2022 |
| 35769074 | Case Report: Inversion of - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up. | Frontiers in Endocrinology | 2022 |
| 36066546 | Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability. | Genetics in Medicine | 2022 |
| 34791361 | Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib. | Journal of Clinical Endocrinology and Metabolism | 2022 |
| 34668226 | SLC4A2 Deficiency Causes a New Type of Osteopetrosis. | Journal of Bone and Mineral Research | 2022 |
| 33398909 | Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders. | Am J Med Genet A | 2021 |
| 33726816 | Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. | Genome Med | 2021 |
| 33875766 | High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses. | J Hum Genet | 2021 |
| 33186059 | Radiologic Features of Type II and Type XI Collagenopathies. | Radiographics | 2021 |
| 33249384 | Exploring human genetic skeletal disorders provides important insights into skeletogenesis and elucidates basic developmental signaling pathways. | eBioMedicine | 2020 |
| 31914175 | Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome. | J Exp Med | 2020 |
| 31965514 | Skeletal ciliopathies: a pattern recognition approach. | Japanese Journal of Radiology | 2020 |
| 31949312 | Defining the clinical phenotype of Saul-Wilson syndrome. | Genet Med | 2020 |
| 30804514 | Gain-of-function mutation of microRNA-140 in human skeletal dysplasia. | Nature Medicine | 2019 |
| 31694722 | From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. | Genome Med | 2019 |
| 29662165 | Deconvolution of seed and RNA-binding protein crosstalk in RNAi-based functional genomics. | Nature Genetics | 2018 |
| 30070757 | Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort. | American Journal of Medical Genetics, Part A | 2018 |
| 29878396 | Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information. | Journal of Bone and Mineral Research | 2018 |
| 30152086 | Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length. | American Journal of Medical Genetics, Part A | 2018 |
| 30290151 | A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. | Am J Hum Genet | 2018 |
| 30080953 | Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. | Human Mutation | 2018 |
| 29178448 | Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2. | Journal of Bone and Mineral Research | 2018 |
| 28123176 | Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations. | Journal of Human Genetics | 2017 |
| 28498836 | Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. | PLoS ONE | 2017 |
| 29055141 | Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome. | American Journal of Medical Genetics, Part A | 2017 |
| 29138412 | Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. | Scientific Reports | 2017 |
| 28084650 | A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B). | Journal of Bone and Mineral Research | 2017 |
| 27510842 | Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. | Oral Diseases | 2017 |
| 27544198 | Autosomal recessive brachyolmia: early radiological findings. | Skeletal Radiology | 2016 |
| 25966638 | A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. | European Journal of Human Genetics | 2016 |
| 26974433 | Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. | PLoS ONE | 2016 |
| 26957348 | Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate. | | 2016 |
| 26728142 | Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis. | Orphanet Journal of Rare Diseases | 2016 |
| 26987875 | Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum. | J Bone Miner Res | 2016 |
| 26479409 | Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion. | J Bone Miner Res | 2016 |
| 26420734 | Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu. | American Journal of Medical Genetics, Part A | 2016 |
| 24598000 | SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED). | Clinical Genetics | 2015 |
| 25833229 | Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment. | Hormone Research in Paediatrics | 2015 |
| 25424714 | Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. | Eur J Hum Genet | 2015 |
| 25944380 | Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. | European Journal of Human Genetics | 2015 |
| 26269249 | Further delineation of the KBG syndrome caused by ANKRD11 aberrations. | Eur J Hum Genet | 2015 |
| 26177859 | Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. | European Journal of Human Genetics | 2015 |