|
| 37642979 | Cranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta - Genotypic and phenotypic determinants. | Orthod Craniofac Res | 2024 |
| 36125320 | Dual enzyme therapy improves adherence to chemotherapy in a patient with gaucher disease and Ewing sarcoma. | Pediatr Hematol Oncol | 2023 |
| 37754776 | Differences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn Screen. | Int J Neonatal Screen | 2023 |
| 37662495 | Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency. | Mol Genet Metab Rep | 2023 |
| 37934770 | Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. | PLoS Genet | 2023 |
| 37124138 | Rare variant enrichment analysis supports <i>GREB1L</i> as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome. | HGG Adv | 2023 |
| 37317786 | A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta. | Am J Med Genet A | 2023 |
| 36779427 | Nosology of genetic skeletal disorders: 2023 revision. | Am J Med Genet A | 2023 |
| 36688559 | Prenatal diagnosis of vascular anomalies. | Prenat Diagn | 2023 |
| 36658750 | Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta. | J Clin Endocrinol Metab | 2023 |
| 34605855 | Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. | Brain | 2022 |
| 35471564 | Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. | Ann Neurol | 2022 |
| 35344616 | Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. | Hum Mutat | 2022 |
| 35396900 | A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. | Am J Med Genet A | 2022 |
| 35909981 | Obstetrical Challenges in Robinow Syndrome. | Case Rep Obstet Gynecol | 2022 |
| 35970273 | Craniofacial and dental phenotype of two girls with osteogenesis imperfecta due to mutations in CRTAP. | Bone | 2022 |
| 36206744 | De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement. | Am J Hum Genet | 2022 |
| 35993290 | Advancements in therapeutics for inborn errors of metabolism. | Curr Opin Pediatr | 2022 |
| 36035248 | Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability. | HGG Adv | 2022 |
| 34980542 | Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: Results of a clinician survey and analysis of a centralized testing database. | Mol Genet Metab | 2022 |
| 32381727 | Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). | J Med Genet | 2021 |
| 33781976 | Pregnancy in women with osteogenesis imperfecta: pregnancy characteristics, maternal, and neonatal outcomes. | Am J Obstet Gynecol MFM | 2021 |
| 33580568 | Health-related quality of life in adults with osteogenesis imperfecta. | Clin Genet | 2021 |
| 35047859 | Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. | HGG Adv | 2021 |
| 34633032 | Metabolomics in Clinical Practice: Improving Diagnosis and Informing Management. | Clin Chem | 2021 |
| 34450031 | COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. | Am J Hum Genet | 2021 |
| 34353949 | A noncoding RNA modulator potentiates phenylalanine metabolism in mice. | Science | 2021 |
| 34251446 | Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism. | JAMA Netw Open | 2021 |
| 33964184 | Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. | Am J Med Genet A | 2021 |
| 33048444 | Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. | Am J Med Genet A | 2021 |
| 33237614 | Craniofacial phenotypes associated with Robinow syndrome. | Am J Med Genet A | 2021 |
| 32974972 | Extremity anomalies associated with Robinow syndrome. | Am J Med Genet A | 2021 |
| 32954672 | Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome. | Am J Med Genet A | 2021 |
| 32424177 | Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. | Genet Med | 2020 |
| 31876392 | Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. | Am J Med Genet A | 2020 |
| 31845315 | VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features. | Clin Genet | 2020 |
| 32082103 | Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. | Front Neurosci | 2020 |
| 31782611 | Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). | Am J Med Genet A | 2020 |
| 32063397 | The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII. | Mol Genet Metab | 2020 |
| 33211814 | Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders. | Am J Intellect Dev Disabil | 2020 |
| 32888393 | Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form. | Am J Med Genet A | 2020 |
| 32828637 | Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. | Mol Genet Metab | 2020 |
| 32909658 | Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency. | Am J Med Genet A | 2020 |
| 32593350 | Malocclusion traits and oral health-related quality of life in children with osteogenesis imperfecta: A cross-sectional study. | J Am Dent Assoc | 2020 |
| 32730936 | Assessment of longitudinal bone growth in osteogenesis imperfecta using metacarpophalangeal pattern profiles. | Bone | 2020 |
| 32843286 | Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227]. | Mol Genet Metab | 2020 |
| 32449285 | Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes. | Am J Med Genet A | 2020 |
| 32439973 | Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis. | Genet Med | 2020 |
| 32461667 | Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy. | Genet Med | 2020 |
| 32376988 | Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. | Eur J Hum Genet | 2020 |