VERNON SUTTON to Adult
This is a "connection" page, showing publications VERNON SUTTON has written about Adult.
Connection Strength
0.609
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Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A. 2020 01; 182(1):38-52.
Score: 0.039
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A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers. Clin Genet. 2015 Feb; 87(2):133-40.
Score: 0.027
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Improved standards for prenatal diagnosis of citrullinemia. Mol Genet Metab. 2014 Jul; 112(3):205-9.
Score: 0.027
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Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. Eur J Med Genet. 2014 Jul; 57(7):339-344.
Score: 0.027
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Cranio-meta-diaphyseal dysplasia: 25 year follow-up and review of literature. Am J Med Genet A. 2010 Sep; 152A(9):2335-8.
Score: 0.021
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Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. Am J Med Genet A. 2009 Sep; 149A(9):1916-21.
Score: 0.019
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Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study. J Bone Miner Res. 2024 Sep 02; 39(9):1215-1228.
Score: 0.014
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Resilience and coping: a qualitative analysis of cognitive and behavioral factors in adults with osteogenesis Imperfecta. Disabil Rehabil. 2025 Feb; 47(3):709-718.
Score: 0.013
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Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study. J Clin Psychol Med Settings. 2024 Sep; 31(3):614-627.
Score: 0.013
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Cranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta - Genotypic and phenotypic determinants. Orthod Craniofac Res. 2024 Apr; 27(2):237-243.
Score: 0.013
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Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta. J Clin Endocrinol Metab. 2023 06 16; 108(7):1787-1796.
Score: 0.013
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A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta. Am J Med Genet A. 2023 09; 191(9):2267-2275.
Score: 0.013
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Targeting TGF-? for treatment of osteogenesis imperfecta. J Clin Invest. 2022 04 01; 132(7).
Score: 0.012
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Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism. JAMA Netw Open. 2021 07 01; 4(7):e2114155.
Score: 0.011
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Health-related quality of life in adults with osteogenesis imperfecta. Clin Genet. 2021 06; 99(6):772-779.
Score: 0.011
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Craniofacial phenotypes associated with Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3606-3612.
Score: 0.011
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Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3576-3583.
Score: 0.010
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Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency. Am J Med Genet A. 2020 11; 182(11):2781-2787.
Score: 0.010
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Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form. Am J Med Genet A. 2020 11; 182(11):2632-2640.
Score: 0.010
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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 Sep - Oct; 131(1-2):147-154.
Score: 0.010
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Assessment of longitudinal bone growth in osteogenesis imperfecta using metacarpophalangeal pattern profiles. Bone. 2020 11; 140:115547.
Score: 0.010
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Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet. 2021 01; 58(1):41-47.
Score: 0.010
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The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII. Mol Genet Metab. 2020 03; 129(3):219-227.
Score: 0.010
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Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. Am J Med Genet A. 2020 04; 182(4):697-704.
Score: 0.010
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Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet. 2019 05 02; 104(5):914-924.
Score: 0.009
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Mobility in osteogenesis imperfecta: a multicenter North American study. Genet Med. 2019 10; 21(10):2311-2318.
Score: 0.009
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 03 07; 104(3):530-541.
Score: 0.009
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Caries prevalence and experience in individuals with osteogenesis imperfecta: A cross-sectional multicenter study. Spec Care Dentist. 2019 Mar; 39(2):214-219.
Score: 0.009
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Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 09; 21(9):1977-1986.
Score: 0.009
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Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V. Eur J Med Genet. 2019 Dec; 62(12):103606.
Score: 0.009
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Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. Genet Med. 2019 02; 21(2):275-283.
Score: 0.009
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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 05 03; 102(5):985-994.
Score: 0.009
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A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers. Genet Med. 2018 10; 20(10):1274-1283.
Score: 0.009
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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 01 04; 102(1):27-43.
Score: 0.009
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
Score: 0.009
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Asprosin is a centrally acting orexigenic hormone. Nat Med. 2017 Dec; 23(12):1444-1453.
Score: 0.009
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Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet. 2017 Nov 02; 101(5):815-823.
Score: 0.008
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Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. Mol Genet Metab. 2017 09; 122(1-2):60-66.
Score: 0.008
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MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 11 01; 8(1):106.
Score: 0.008
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SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. Am J Med Genet A. 2016 12; 170(12):3165-3171.
Score: 0.008
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Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism. Genet Test Mol Biomarkers. 2016 Sep; 20(9):485-95.
Score: 0.008
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Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood. Pediatr Endocrinol Rev. 2016 Mar; 13(3):585-601.
Score: 0.008
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POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 06; 8(1):3.
Score: 0.007
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Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
Score: 0.007
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Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study. Am J Med Genet A. 2015 Oct; 167A(10):2272-81.
Score: 0.007
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Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood. Pediatr Endocrinol Rev. 2015 Jun; 12(4):373-87.
Score: 0.007
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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 Feb; 125(2):636-51.
Score: 0.007
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Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A. 2014 Jul; 164A(7):1713-33.
Score: 0.007
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Next-generation sequencing for disorders of low and high bone mineral density. Osteoporos Int. 2013 Aug; 24(8):2253-9.
Score: 0.006
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High prevalence of overweight and obesity in females with phenylketonuria. Mol Genet Metab. 2012 Sep; 107(1-2):43-8.
Score: 0.006
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Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet. 2012 Jun 24; 44(8):928-33.
Score: 0.006
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Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet. 2011 Jan; 19(1):102-7.
Score: 0.005
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The right to ignore genetic status of late onset genetic disease in the genomic era; Prenatal testing for Huntington disease as a paradigm. Am J Med Genet A. 2010 Jul; 152A(7):1774-80.
Score: 0.005
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Management of ornithine transcarbamylase deficiency in pregnancy. Am J Perinatol. 2010 Nov; 27(10):775-84.
Score: 0.005
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Sleepiness and sleep disordered breathing in Prader-Willi syndrome: relationship to genotype, growth hormone therapy, and body composition. J Clin Sleep Med. 2008 Apr 15; 4(2):111-8.
Score: 0.004
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Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol. 2007 Feb; 22(2):176-84.
Score: 0.004
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Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis. Prenat Diagn. 2002 Nov; 22(11):1028-32.
Score: 0.003
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The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements. Prenat Diagn. 2002 Feb; 22(2):141-3.
Score: 0.003