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| 36807220 | Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III. | | 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 |
| 37862598 | Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study. | | 2023 |
| 37454964 | Identification of potential non-invasive biomarkers in diastrophic dysplasia. | Bone | 2023 |
| 35275235 | Collagen X Marker Levels are Decreased in Individuals with Achondroplasia. | Calcified Tissue International | 2022 |
| 34801144 | Multidisciplinary Care of Neurosurgical Patients with Genetic Syndromes. | Neurosurg Clin N Am | 2022 |
| 34016138 | Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease. | Orphanet J Rare Dis | 2021 |
| 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 |
| 31949312 | Defining the clinical phenotype of Saul-Wilson syndrome. | Genet Med | 2020 |
| 31769196 | Rhizomelic chondrodysplasia punctata morbidity and mortality, an update. | American Journal of Medical Genetics, Part 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 |
| 31503224 | Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata. | 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 |
| 30637564 | Prevalence of mental health conditions and pain in adults with skeletal dysplasia. | Quality of Life Research | 2019 |
| 29265708 | The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. | Am J Med Genet 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 |
| 28191891 | Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. | Nat Genet | 2017 |
| 28940990 | Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II. | American Journal of Medical Genetics, Part A | 2017 |
| 28566537 | Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis. | Genes Dev | 2017 |
| 29080333 | Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients. | Am J Med Genet A | 2017 |
| 27807845 | Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy. | Clin Genet | 2017 |
| 27616591 | Growth charts for individuals with rhizomelic chondrodysplasia punctata. | American Journal of Medical Genetics, Part A | 2017 |
| 27737959 | Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. | Genes Dev | 2016 |
| 26823048 | Metatropic dysplasia is associated with increased fracture risk. | American Journal of Medical Genetics, Part A | 2016 |
| 26408048 | Congenital heart defects common in rhizomelic chondrodysplasia punctata. | American Journal of Medical Genetics, Part A | 2016 |
| 25387261 | C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. | Journal of Clinical Endocrinology and Metabolism | 2015 |
| 24705347 | Hip pathology in Majewski osteodysplastic primordial dwarfism type II. | Journal of Pediatric Orthopaedics | 2014 |
| 24123394 | Extreme growth failure is a common presentation of ligase IV deficiency. | Hum Mutat | 2014 |
| 22711505 | A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay. | American Journal of Medical Genetics, Part A | 2012 |
| 22821869 | Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. | Am J Med Genet A | 2012 |
| 20588305 | Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. | European Journal of Human Genetics | 2010 |
| 18834396 | 'The cost and yield of evaluations for developmental delay/mental retardation'. | Developmental Medicine and Child Neurology | 2008 |