Stephen P Robertson
Affiliation: University of Otago
Country: New Zealand
Cameron Christie S, Wilde J, Gray A, Tankard R, Bahlo M, Markie D, et al
. Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family. BMC Med Genomics. 2018;11:121 pubmed publisher
..Resolution of any risk loci may rely on extensive genomic sequencing studies in this iwi or investigation of other mechnaisms such as copy number variation. ..
O Neill A, Kyrousi C, Klaus J, Leventer R, Kirk E, Fry A, et al
. A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration. Cell Rep. 2018;25:2729-2741.e6 pubmed publisher
..This suggests that this PLEKHG6 isoform is an example of a primate-specific genomic element supporting brain development. ..
Cameron Christie S, Wells C, Simon M, Wessels M, Tang C, Wei W, et al
. Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. Am J Hum Genet. 2018;102:1115-1125 pubmed publisher
..These observations make genetic diagnosis challenging in the context of simplex presentations of the disorder. ..
Wade E, Daniel P, Jenkins Z, McInerney Leo A, Leo P, Morgan T, et al
. Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. Am J Hum Genet. 2016;99:392-406 pubmed publisher
..Furthermore, they suggest that the pathogenesis of some of the filaminopathies caused by FLNA mutations might be mediated by misregulation of signaling coordinated through the TAK1 signaling complex. ..
Holman S, Morgan T, Baujat G, Cormier Daire V, Cho T, Lees M, et al
. Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus. Clin Genet. 2013;83:251-6 pubmed publisher
Bunn K, Daniel P, RÃ¶sken H, O Neill A, Cameron Christie S, Morgan T, et al
. Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. Am J Hum Genet. 2015;96:623-30 pubmed publisher
Morton J, Frentz S, Morgan T, Sutherland Smith A, Robertson S. Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes. Am J Med Genet A. 2016;170:2706-10 pubmed publisher
..2016 Wiley Periodicals, Inc. ..