Angela L. Duker

发表

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ellen F. Macnamara, M. Westerfield, D. Earl, 2018, American journal of human genetics.

Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone‐mediated tubulinopathy

E. Bertini, E. Eyal, M. Scavina, 2017, Clinical genetics.

Defining the clinical phenotype of Saul-Wilson syndrome.

D. Earl, H. Freeze, W. Gahl, 2020, Genetics in Medicine.

C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.

A. Aylsworth, E. Espiner, B. Zabel, 2015, Journal of Clinical Endocrinology and Metabolism.

Prevalence of mental health conditions and pain in adults with skeletal dysplasia

Laura Conway, W. Mackenzie, K. Rogers, 2019, Quality of Life Research.

Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients

J. Lian, M. Harty, M. Bober, 2017, American journal of medical genetics. Part A.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, J. Al-Aama, P. Tomançak, 2017, Nature Genetics.

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

J. Rosenfeld, L. Shaffer, B. Ballif, 2010, European Journal of Human Genetics.

Identification of potential non-invasive biomarkers in diastrophic dysplasia.

C. Ferreira, A. Zankl, Ricki S. Carroll, 2023, Bone.

Collagen X Marker Levels are Decreased in Individuals with Achondroplasia

E. Espiner, Ricki S. Carroll, B. Johnstone, 2022, Calcified Tissue International.

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

E. Bongers, C. Wise, J. Murray, 2012, American journal of medical genetics. Part A.

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

C. Logan, A. Jackson, M. Bober, 2018, American journal of medical genetics. Part A.

Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease

Ricki S. Carroll, T. Niiler, C. Baker-Smith, 2021, Orphanet Journal of Rare Diseases.

NOVEL XRCC4 MUTATIONS IN AN INFANT WITH MICROCEPHALIC PRIMORDIAL DWARFISM, DILATED CARDIOMYOPATHY, SUBCLINICAL HYPOTHYROIDISM, AND EARLY DEATH: EXPANDING THE PHENOTYPE OF XRCC4 MUTATIONS.

C. Phornphutkul, Meghan E Fredette, M. Bober, 2020, AACE Clinical Case Reports.

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

Martin A. M. Reijns, D. Sillence, J. Marsh, 2019, Human mutation.

Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II

T. Niiler, M. Bober, A. Duker, 2017, American journal of medical genetics. Part A.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, P. Tomançak, N. Prescott, 2017, Nature Genetics.

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

Ahmed E. Fetit, A. Wood, C. Wise, 2016, Genes & development.

Hip Pathology in Majewski Osteodysplastic Primordial Dwarfism Type II

W. Mackenzie, K. Rogers, M. Bober, 2014, Journal of pediatric orthopedics.

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

M. Hurles, C. Woods, H. Firth, 2013, Human mutation.

Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III.

M. Bober, A. Duker, M. DeFelice, 2023, Journal of clinical immunology.

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

Martin Kircher, George Anadiotis, Michael J Bamshad, 2019, American journal of human genetics.

Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor

Ricki S. Carroll, M. Bober, Elissa G Miller, 2020, Palliative medicine reports.

Multidisciplinary Care of Neurosurgical Patients with Genetic Syndromes

K. White, J. Hoover-Fong, R. Savarirayan, 2021, Neurosurgery Clinics of North America.

A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay

D. Krakow, W. Baratela, M. Bober, 2012, American journal of medical genetics. Part A.

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

C. Pizarro, Abraham Oommen, W. Mackenzie, 2023, Anesthesia and Analgesia.

‘The cost and yield of evaluations for developmental delay/mental retardation’

A. Duker, L. N. Teed, Ronald L. Thomas, 2008, Developmental medicine and child neurology.

Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia

Ricki S. Carroll, Andrea J. Schelhaas, Angela L. Duker, 2023, JBMR Plus.

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

Daniel G. Miller, H. Mefford, D. Nickerson, 2019, American journal of human genetics.

Quantification of Finger Laxity in Skeletal Dysplasia

T. Rahman, W. Mackenzie, S. Tomatsu, 2021 .

Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.

K. Boycott, Ricki S. Carroll, Jingjing Li, 2023, Nature communications.

Metatropic dysplasia is associated with increased fracture risk

W. Mackenzie, K. Rogers, M. Bober, 2016, American journal of medical genetics. Part A.