Angela Duker, MS,CGC
Genetics Counselor- Genetics
- Primordial Dwarfism
- Skeletal Dysplasia
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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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