Angela Duker, MS,CGC

Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III; Journal of Clinical Immunology; (2023).

Identification of potential non-invasive biomarkers in diastrophic dysplasia; Bone; (2023).

Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study; Anesthesia & Analgesia; (2023).

Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia; Nature Communications; (2023).

Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia; JBMR Plus; (2023).

Collagen X Marker Levels are Decreased in Individuals with Achondroplasia; Calcified Tissue International; (2022).

Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease.; Orphanet journal of rare diseases; (2021).

Growth in individuals with Saul-Wilson syndrome.; American journal of medical genetics. Part A; (2020).

Rhizomelic chondrodysplasia punctata morbidity and mortality, an update; American Journal of Medical Genetics Part A; (2020).

Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor; Palliative Medicine Reports; (2020).

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).

Defining the clinical phenotype of Saul-Wilson syndrome.; Genetics in medicine : official journal of the American College of Medical Genetics; (2020).

Biallelic variants in DNA2 cause microcephalic primordial dwarfism.; Human mutation; (2019).

Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata.; Journal of pediatric orthopedics; (2019).

Prevalence of mental health conditions and pain in adults with skeletal dysplasia; Quality of Life Research; (2019).

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).

The expanding phenotype of <i>RNU4ATAC</i> pathogenic variants to Lowry Wood syndrome; American Journal of Medical Genetics Part A; (2018).

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).

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).

Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II; American Journal of Medical Genetics Part A; (2017).

Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients; American Journal of Medical Genetics Part A; (2017).

Growth charts for individuals with rhizomelic chondrodysplasia punctata.; American journal of medical genetics. Part A; (2016).

Metatropic dysplasia is associated with increased fracture risk.; American journal of medical genetics. Part A; (2016).

C-Type Natriuretic Peptide Plasma Levels Are Elevated in Subjects With Achondroplasia, Hypochondroplasia, and Thanatophoric Dysplasia; The Journal of Clinical Endocrinology &amp; Metabolism; (2015).

Congenital heart defects common in rhizomelic chondrodysplasia punctata.; American journal of medical genetics. Part A; (2015).

Hip Pathology in Majewski Osteodysplastic Primordial Dwarfism Type II; Journal of Pediatric Orthopaedics; (2014).

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency; Human Mutation; (2014).

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations; American Journal of Medical Genetics Part A; (2012).

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).

‘The cost and yield of evaluations for developmental delay/mental retardation’; Developmental Medicine &amp; Child Neurology; (2008).