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Angela L. Duker · SciRah

Researcher profile · Semantic Scholar

Angela L. Duker

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Angela L. Duker — researcher profile on SciRah

h-index: 15
Works: 51
Citations: 1,214

Most-cited papers

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome
Angela L. Duker, B. Ballif, E. Bawle, R. Person +9 more
2010European Journal of Human Genetics322 citations Open access
Semantic Scholar
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis
Carol-Anne Martin, J. Murray, P. Carroll, A. Leitch +19 more
2016Genes & Development129 citations Open access
Semantic Scholar
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
J. Reynolds, L. Bicknell, P. Carroll, M. Higgs +58 more
2017Nature Genetics105 citations Open access
Semantic Scholar
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
Amy Lacroix, D. Stabley, Rebecca Sahraoui, M. Adam +19 more
2019American Journal of Human Genetics96 citations Open access
Semantic Scholar
Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
J. Murray, L. Bicknell, Gökhan Yigit, Angela L. Duker +25 more
2013Human Mutation95 citations Open access
Semantic Scholar
The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome
L. Farach, M. Little, Angela L. Duker, Clare V. Logan +3 more
2017American Journal of Medical Genetics. Part A69 citations Open access
Semantic Scholar
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
C. Ferreira, Zhi-Jie Xia, A. Clément, David A. Parry +50 more
2018American Journal of Human Genetics67 citations Open access
Semantic Scholar
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations
M. Bober, T. Niiler, Angela L. Duker, J. Murray +9 more
2012American Journal of Medical Genetics. Part A47 citations Open access
Semantic Scholar
C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.
R. Olney, T. Prickett, E. Espiner, W. Mackenzie +7 more
2015Journal of Clinical Endocrinology and Metabolism32 citations
Semantic Scholar
Human Mutation
S. Bicknell, J. A. Marsh, J. Murray, David A. Parry +9 more
201926 citations
Semantic Scholar
Growth charts for individuals with rhizomelic chondrodysplasia punctata
Angela L. Duker, T. Niiler, G. Eldridge, N. Brereton +2 more
2017American Journal of Medical Genetics. Part A24 citations
Semantic Scholar
Prevalence of mental health conditions and pain in adults with skeletal dysplasia
Sarah E Jennings, Colleen P. Ditro, M. Bober, W. Mackenzie +3 more
2019Quality of Life Research22 citations
Semantic Scholar
Rhizomelic chondrodysplasia punctata morbidity and mortality, an update
Angela L. Duker, T. Niiler, Dagmar Kinderman, M. Schouten +3 more
2019American Journal of Medical Genetics. Part A21 citations Open access
Semantic Scholar
Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease
Angela L. Duker, Dagmar Kinderman, Christy R. Jordan, T. Niiler +5 more
2021Orphanet Journal of Rare Diseases20 citations Open access
Semantic Scholar
A Newly Recognized Syndrome With Characteristic Facial Features, Skeletal Dysplasia, and Developmental Delay
W. Baratela, M. Bober, George E. Tiller, Ericka Okenfuss +8 more
2012American Journal of Medical Genetics. Part A16 citations Open access
Semantic Scholar
Defining the clinical phenotype of Saul-Wilson syndrome.
C. Ferreira, W. Zein, Laryssa A. Huryn, Andrea Merker +27 more
2020Genetics in Medicine13 citations Open access
Semantic Scholar
Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor
Ricki S. Carroll, Angela L. Duker, Andrea J Schelhaas, M. Little +2 more
2020Palliative Medicine Reports12 citations Open access
Semantic Scholar
Hip Pathology in Majewski Osteodysplastic Primordial Dwarfism Type II
A. Karataş, M. Bober, K. Rogers, Angela L. Duker +2 more
2014Journal of pediatric orthopedics12 citations
Semantic Scholar
Congenital heart defects common in rhizomelic chondrodysplasia punctata
Angela L. Duker, G. Eldridge, Nancy E. Braverman, M. Bober
2016American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia
O. Gourgas, G. Lemire, Alison J. Eaton, Sultanah Alshahrani +8 more
2023Nature Communications9 citations Open access
Semantic Scholar
Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III
N. Sirohi, Angela L. Duker, M. Bober, M. DeFelice
2023Journal of Clinical Immunology7 citations
Semantic Scholar
Collagen X Marker Levels are Decreased in Individuals with Achondroplasia
Ricki S. Carroll, R. Olney, Angela L. Duker, R. Coghlan +9 more
2022Calcified Tissue International6 citations Open access
Semantic Scholar
Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata
O. Abousamra, V. Kandula, Angela L. Duker, K. Rogers +2 more
2017Journal of pediatric orthopedics6 citations
Semantic Scholar
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.
J. Rios, Yang E. Li, N. Paria, Ryan J Bohlender +18 more
2023American Journal of Human Genetics5 citations
Semantic Scholar
Growth in individuals with Saul–Wilson syndrome
C. Ferreira, T. Niiler, Angela L. Duker, A. Jackson +1 more
2020American Journal of Medical Genetics. Part A5 citations Open access
Semantic Scholar
Bone Aneurysmal Cysts and Pathologic Fracture Associated with Supernumerary Ring Chromosome 6 in Two Unrelated Patients
L. Hurd, M. Thacker, Ericka Okenfuss, Angela L. Duker +5 more
2017American Journal of Medical Genetics. Part A5 citations Open access
Semantic Scholar
‘The cost and yield of evaluations for developmental delay/mental retardation’
Angela L. Duker, L. Nicole Teed, Ronald L. Thomas, Marianne E. Majkowski +1 more
2008Developmental Medicine & Child Neurology5 citations Open access
Semantic Scholar
Mutations in RNU4ATAC are associated with chilblain-like lesions and enhanced type I interferon signalling
Nic Robertson, Aakash Joshi, F. Ritchie, Ina Schim van der Loeff +12 more
2025European Journal of Immunology3 citations Open access
Semantic Scholar
Tracheal Narrowing and Its Impact on Anesthesia Care in Patients with Morquio A (MPS IVA): An Observational Study
M. Theroux, Sabina Dicindio, L. Averill, C. Pizarro +13 more
2023Anesthesia and Analgesia3 citations Open access
Semantic Scholar
Multidisciplinary Care of Neurosurgical Patients with Genetic Syndromes.
Melissa A. Villegas, Ericka Okenfuss, R. Savarirayan, K. White +4 more
2021Neurosurgery clinics of North America3 citations
Semantic Scholar
Metatropic dysplasia is associated with increased fracture risk
M. Bober, Angela L. Duker, Megan Carney, Colleen P. Ditro +2 more
2016American Journal of Medical Genetics. Part A3 citations
Semantic Scholar
C-Type Natriuretic Peptide (CNP) and Collagen X Marker (CXM) Are Aberrant in Skeletal Dysplasias.
Ricki S. Carroll, R. Olney, Angela L. Duker, R. Coghlan +10 more
2025Journal of Bone and Mineral Research2 citations
Semantic Scholar
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities
Matthew J. Moulton, Kristhen Atala, Yi-Ming Zheng, Debdeep Dutta +15 more
2024Genetics in Medicine2 citations
Semantic Scholar
NOVEL XRCC4 MUTATIONS IN AN INFANT WITH MICROCEPHALIC PRIMORDIAL DWARFISM, DILATED CARDIOMYOPATHY, SUBCLINICAL HYPOTHYROIDISM, AND EARLY DEATH: EXPANDING THE PHENOTYPE OF XRCC4 MUTATIONS.
Meghan E Fredette, Kristin C Lombardi, Angela L. Duker, Catherine Buck +3 more
2020AACE Clinical Case Reports2 citations Open access
Semantic Scholar
Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II
Angela L. Duker, T. Niiler, M. Bober
2017American Journal of Medical Genetics. Part A2 citations
Semantic Scholar
Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
J. Murray, L. Bicknell, Gökhan Yigit, Angela L. Duker +26 more
20162 citations Open access
Semantic Scholar
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort
Dena R Matalon, Angela L. Duker, Taylor M. Arriaga, Kathryn A. Russell +65 more
2026Genetics in Medicine1 citations Open access
Semantic Scholar
Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia
O. Gourgas, G. Lemire, Alison J. Eaton, Sultanah Alshahrani +8 more
2024Nature Communications1 citations
Semantic Scholar
Identification of potential non-invasive biomarkers in diastrophic dysplasia
Chiara Paganini, Ricki S. Carroll, Chiara Gramegna Tota, Andrea J Schelhaas +15 more
2023Bone1 citations Open access
Semantic Scholar
Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia
David A. O’Connell, Ricki S. Carroll, Angela L. Duker, Andrea J Schelhaas +3 more
2023JBMR Plus1 citations Open access
Semantic Scholar
eP467: Prenatal genetic testing can lead to (almost) self-fulfilling prophecy: Diastrophic dysplasia as an example
Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll
2022Genetics in Medicine1 citations Open access
Semantic Scholar
Quantification of Finger Laxity in Skeletal Dysplasia
J. Wee, T. Rahman, M. Bober, S. Tomatsu +3 more
20211 citations
Semantic Scholar
Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata.
O. Abousamra, V. Kandula, Angela L. Duker, K. Rogers +2 more
2017Journal of pediatric orthopedics1 citations
Semantic Scholar
P301: SOX9-associated conditions: A comparison of clinical presentations and outcomes of patients with campomelia versus acampomelia
Edward Schneider, Angela L. Duker, Mahim Jain, Sarah M Little +1 more
2026Genetics in Medicine Open0 citations Open access
Semantic Scholar
P237: Incidence of neurocognitive conditions in hypochondroplasia
Sarah M Little, Shannon Bonner, Angela L. Duker, Ricki Carroll +2 more
2026Genetics in Medicine Open0 citations Open access
Semantic Scholar
Puberty With Microcephalic Osteodysplastic Primordial Dwarfism Type II
Sarah M Little, Emily D Longenecker, Angela L. Duker
2025American Journal of Medical Genetics. Part A0 citations
Semantic Scholar
Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy
Valerie R Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll
2025American Journal of Medical Genetics. Part A0 citations Open access
Semantic Scholar
P814: Cases of survivorship: Prenatal counseling for double heterozygosity in skeletal dysplasia
Andrea Schelhaas, Angela L. Duker, Valerie R Schwartz, Ricki Carroll
2024Genetics in Medicine Open0 citations Open access
Semantic Scholar
Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis.
Carol-Anne Martin, J. Murray, P. Carroll, A. Leitch +19 more
2017Genes & Development0 citations Open access
Semantic Scholar
Metatropic dysplasia is associated with increased fracture risk and increased markers of bone turnover
M. Bober, Angela L. Duker, Megan Carney, Colleen P. Ditro +2 more
20150 citations
Semantic Scholar

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