Oegema R, Cushion T, Phelps I, Chung S, Dempsey J, Collins S, et al
. Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. Hum Mol Genet. 2015;24:5313-25 pubmed publisher
..Identifying this highly characteristic phenotype is important due to the low recurrence risk compared with the other (recessive) cerebellar dysplasias and the apparent lack of non-neurological medical issues. ..
Tuz K, Bachmann Gagescu R, O Day D, Hua K, Isabella C, Phelps I, et al
. Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. Am J Hum Genet. 2014;94:62-72 pubmed publisher
..In summary, CSPP1 mutations are a major cause of the Joubert-Jeune phenotype in humans; however, the mechanism by which these mutations lead to both JBTS and JATD remains unknown. ..
Aldinger K, Doherty D. The genetics of cerebellar malformations. Semin Fetal Neonatal Med. 2016;21:321-32 pubmed publisher
..Here we present an update on the genetic causes for cerebellar malformations that can be recognized by neuroimaging and clinical characteristics during the prenatal and postnatal periods. ..
Pan L, Shah A, Phelps I, Doherty D, Johnson E, Moens C. Rapid identification and recovery of ENU-induced mutations with next-generation sequencing and Paired-End Low-Error analysis. BMC Genomics. 2015;16:83 pubmed publisher
..We conclude that this approach significantly increases screening efficiency and accuracy at reduced cost and can be applied in a wide range of organisms. ..
Chong J, Caputo V, Phelps I, Stella L, Worgan L, Dempsey J, et al
. Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. Am J Hum Genet. 2016;98:772-81 pubmed publisher
..In contrast to other disorders caused by dysregulated mTOR signaling associated with focal or global brain overgrowth, impaired TBCK function results in progressive loss of brain volume. ..
Van De Weghe J, Rusterholz T, Latour B, Grout M, Aldinger K, Shaheen R, et al
. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet. 2017;101:23-36 pubmed publisher
Milev M, Grout M, Saint Dic D, Cheng Y, Glass I, Hale C, et al
. Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction. Am J Hum Genet. 2017;101:291-299 pubmed publisher
..Detailed understanding of the TRAPP-opathies will illuminate the role of membrane protein transport in human disease. ..