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David M Markie

Explore the profile of David M Markie including associated specialties, affiliations and a list of published articles. Areas
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Articles 17
Citations 292
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Recent Articles
1.
Fukushima K, Parthasarathy P, Wade E, Morgan T, Gowrishankar K, Markie D, et al.
Genes (Basel) . 2021 Apr; 12(4). PMID: 33916386
Spondylocarpotarsal synostosis syndrome (SCT) is characterized by vertebral fusions, a disproportionately short stature, and synostosis of carpal and tarsal bones. Pathogenic variants in , , and possibly in , have...
2.
Peng H, Jenkins Z, White R, Connors S, Hunter M, Ronan A, et al.
J Clin Endocrinol Metab . 2020 Jan; 105(3). PMID: 31970420
Context: The WNT/β-catenin pathway is central to the pathogenesis of various human diseases including those affecting bone development and tumor progression. Objective: To evaluate the role of a gain-of-function variant...
3.
Driver S, Jackson M, Richter K, Tomlinson P, Brockway B, Halliday B, et al.
Eur J Hum Genet . 2019 Dec; 28(4):445-452. PMID: 31792352
Connective tissue disorders are a spectrum of diseases that affect the integrity of tissues including skin, vasculature, and joints. They are often caused by variants that disrupt genes encoding components...
4.
Gowans L, Cameron-Christie S, Slayton R, Busch T, Romero-Bustillos M, Eliason S, et al.
Front Genet . 2019 Oct; 10:800. PMID: 31616463
The etiology of dental anomalies is multifactorial; and genetic and environmental factors that affect the dental lamina have been implicated. We investigated two families of European ancestry in which males...
5.
Cameron-Christie S, Wells C, Simon M, Wessels M, Tang C, Wei W, et al.
Am J Hum Genet . 2019 Sep; 105(3):669. PMID: 31491409
No abstract available.
6.
ONeill A, Kyrousi C, Klaus J, Leventer R, Kirk E, Fry A, et al.
Cell Rep . 2018 Dec; 25(10):2729-2741.e6. PMID: 30517861
The mammalian neocortex has undergone remarkable changes through evolution. A consequence of such rapid evolutionary events could be a trade-off that has rendered the brain susceptible to certain neurodevelopmental and...
7.
Halliday B, Fukuzawa R, Markie D, Grundy R, Ludgate J, Black M, et al.
PLoS Genet . 2018 Jun; 14(6):e1007399. PMID: 29912901
Wilms tumour is a childhood tumour that arises as a consequence of somatic and rare germline mutations, the characterisation of which has refined our understanding of nephrogenesis and carcinogenesis. Here...
8.
Cameron-Christie S, Wells C, Simon M, Wessels M, Tang C, Wei W, et al.
Am J Hum Genet . 2018 May; 102(6):1115-1125. PMID: 29805041
Spondylocarpotarsal synostosis syndrome (SCTS) is characterized by intervertebral fusions and fusion of the carpal and tarsal bones. Biallelic mutations in FLNB cause this condition in some families, whereas monoallelic variants...
9.
ONeill A, Kyrousi C, Einsiedler M, Burtscher I, Drukker M, Markie D, et al.
Front Cell Neurosci . 2018 Mar; 12:57. PMID: 29593499
Disorders of neuronal mispositioning during brain development are phenotypically heterogeneous and their genetic causes remain largely unknown. Here, we report biallelic variants in a Hippo signaling factor--in a patient with...
10.
Jenkins Z, Macharg A, Chang C, van Kogelenberg M, Morgan T, Frentz S, et al.
Hum Mutat . 2017 Oct; 39(1):103-113. PMID: 29024177
Loss-of-function mutations in the X-linked gene FLNA can lead to abnormal neuronal migration, vascular and cardiac defects, and congenital intestinal pseudo-obstruction (CIPO), the latter characterized by anomalous intestinal smooth muscle...