Angela Duker, MS,CGC
GeneticsInsurance Accepted
- Aetna Better Health FL Medicaid and Healthy Kids
- Aetna HMO
- Aetna HMO/POS/PPO/EPO
- Aetna PPO/POS/EPO
- Blue Cross and Blue Shield HMO
- Blue Cross and Blue Shield Non HMO
- Blue Cross Blue Shield Florida Blue Select
- Cigna/Great West HMO EPO POS
- Cigna/Great West PPO
- Community Care Plan Medicaid
- Employers Health Network PPO
- Evolutions Healthcare
- Fidelis Care NJ Medicaid HMO
- First Health Aetna PPO/EPO
- First Health/Affordable PPO
- Global Medical Managment DE/PA
- Insurance Administrators of America
- INTEGRA Administrative Group (ClaimsBridge)
- Multiplan PPO
- Plan Vista/NPPN PPO
- Preferred Healthcare PPO
- Private Health Care Systems (PHCS)
- Simply Healthcare Healthy Kids
- Simply Healthcare Medicaid HMO
- Star Healthcare Network
- Three Rivers Provider Network
- Skeletal Dysplasia
Research Activities
Our team is involved in clinical research involving many different types of skeletal dysplasias. My biggest research focus now is on primordial dwarfism. Specifically, we coordinate an international Primordial Dwarfism Research Registry. Through that I have participated in myriad studies with the goal of formulating care plans to help identify and treat any contributing causes of illness or life-threatening situations. It seems like as soon as we figure something out, the door opens for something else to learn about … which is both the blessing and the curse of research! However, it’s one that I enjoy very much, and am happy to be a part of if it means making the lives better of the children and families I work with.
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Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III; Journal of Clinical Immunology; (2023).
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Identification of potential non-invasive biomarkers in diastrophic dysplasia; Bone; (2023).
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Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study; Anesthesia & Analgesia; (2023).
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Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia; Nature Communications; (2023).
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Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia; JBMR Plus; (2023).
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Collagen X Marker Levels are Decreased in Individuals with Achondroplasia; Calcified Tissue International; (2022).
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Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease.; Orphanet journal of rare diseases; (2021).
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Rhizomelic chondrodysplasia punctata morbidity and mortality, an update; American Journal of Medical Genetics Part A; (2020).
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Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor; Palliative Medicine Reports; (2020).
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Novel XRCC4 Mutations in an Infant With Microcephalic Primordial Dwarfism, Dilated Cardiomyopathy, Subclinical Hypothyroidism, and Early Death: Expanding the Phenotype Of XRCC4 Mutations; AACE Clinical Case Reports; (2020).
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Defining the clinical phenotype of Saul-Wilson syndrome.; Genetics in medicine : official journal of the American College of Medical Genetics; (2020).
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Growth in individuals with Saul-Wilson syndrome.; American journal of medical genetics. Part A; (2020).
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Biallelic variants in DNA2 cause microcephalic primordial dwarfism.; Human mutation; (2019).
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Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata.; Journal of pediatric orthopedics; (2019).
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Prevalence of mental health conditions and pain in adults with skeletal dysplasia; Quality of Life Research; (2019).
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GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome; The American Journal of Human Genetics; (2019).
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The expanding phenotype of <i>RNU4ATAC</i> pathogenic variants to Lowry Wood syndrome; American Journal of Medical Genetics Part A; (2018).
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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation; The American Journal of Human Genetics; (2018).
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Microcephaly, intractable seizures and developmental delay caused by biallelic variants in <i><scp>TBCD</scp></i>: further delineation of a new chaperone‐mediated tubulinopathy; Clinical Genetics; (2017).
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Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II; American Journal of Medical Genetics Part A; (2017).
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Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients; American Journal of Medical Genetics Part A; (2017).
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Metatropic dysplasia is associated with increased fracture risk.; American journal of medical genetics. Part A; (2016).
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Growth charts for individuals with rhizomelic chondrodysplasia punctata.; American journal of medical genetics. Part A; (2016).
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C-Type Natriuretic Peptide Plasma Levels Are Elevated in Subjects With Achondroplasia, Hypochondroplasia, and Thanatophoric Dysplasia; The Journal of Clinical Endocrinology & Metabolism; (2015).
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Congenital heart defects common in rhizomelic chondrodysplasia punctata.; American journal of medical genetics. Part A; (2015).
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Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency; Human Mutation; (2014).
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Hip Pathology in Majewski Osteodysplastic Primordial Dwarfism Type II; Journal of Pediatric Orthopaedics; (2014).
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Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations; American Journal of Medical Genetics Part A; (2012).
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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).
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‘The cost and yield of evaluations for developmental delay/mental retardation'; Developmental Medicine & Child Neurology; (2008).
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- English