Disruptions in a cluster of computationally identified enhancers near FOXC1 and GMDS may influence brain development Genevieve D. E. HaliburtonGabriel L. McKinseyKatherine S. Pollard Original Article Open access 17 September 2015 Pages: 1 - 9
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations Catherine A. BrownsteinAlan H. BeggsPankaj B. Agrawal Original Article 22 September 2015 Pages: 11 - 16
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld–Rieger syndrome Shazia MichealSorath Noorani SiddiquiAnneke I. den Hollander Original Article Open access 21 October 2015 Pages: 17 - 23
Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization Simon EdvardsonHaibo WangOrly Elpeleg Original Article 17 November 2015 Pages: 25 - 30
COMT Val 158 Met polymorphism is associated with nonverbal cognition following mild traumatic brain injury Ethan A. WinklerJohn K. Yuethe TRACK-TBI Investigators Original Article 17 November 2015 Pages: 31 - 41
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism Linshan ShangLindsay B. HendersonWendy K. Chung Original Article 17 November 2015 Pages: 43 - 49
First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking María Elena Rodríguez-GarcíaElena Martín-HernándezFrancisco Martínez-Azorín Short Communication 07 October 2015 Pages: 51 - 56
Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood Greer S. KirshenbaumJames DachtlerSteven J. Clapcote Short Communication Open access 13 October 2015 Pages: 57 - 63
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations Michelangelo CaoMarta DonàElena Pegoraro Short Communication 10 November 2015 Pages: 65 - 70
Refining the phenotype associated with CASC5 mutation Abdelkrim SaadiFlorine VernyLaurence Colleaux Short Communication 01 December 2015 Pages: 71 - 78
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly Mara CavallinLaurence HubertNadia Bahi-Buisson Letter to Editor 19 September 2015 Pages: 79 - 82