Angela Duker, MS,CGC

Genetics Counselor

Nemours Children's Hospital, Delaware 1600 Rockland Road Wilmington, DE 19803

Medical/Dental School

  • Master of Science in Human Genetics - University of Michigan, 2002

  • Genetics
  • Primordial Dwarfism
  • Skeletal Dysplasia

  • 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 &amp; 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 &amp; Child Neurology; (2008).

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