Dr Kate Baker University positionProgramme Leader DepartmentsDepartment of Medical Genetics Research ThemesInterestsGenomic technology is now enabling the identification of many novel causes of neurodevelopmental disorder. This provides a new starting point for understanding the relationships between specific genetic mutation, neuronal function, brain development, cognition and mental health. I apply systematic clinical and cognitive neuroscience methods to characterise patients with intellectual disability in whom a genetic cause has been identified. I hope this will have clinical benefit (clarifying pathogenicity of novel variants, prognostication) and generate hypotheses about new mechanisms of disease. Research Focus
EquipmentBehavioural analysis Electroencephalography (EEG) Magnetic resonance imaging (MRI) Neuropsychological testing Collaborators
Associated News ItemsPublications2014Habel A, Herriot R, Kumararatne D, Allgrove J, Baker K, Baxendale H, Bu'lock F, Firth H, Gennery A, Holland A, Illingworth C, Mercer N, Pannebakker M, Parry A, Roberts A, Tsai-Goodman B (2014), “Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times.” Eur J Pediatr Details 2013Baker K (2013), “Syndromes Not Yet Proven to be Ciliopathies” Ciliopathies: A reference for clinicians Baker KD, Beales P (2013), “Abnormalities of the Central Nervous System Across the Ciliopathy Spectrum” Cilia and Nervous System Development and Function 2012Baker K, Raymond FL, Bass N (2012), “Genetic investigation for adults with intellectual disability: opportunities and challenges.” Curr Opin Neurol Details Baker K, Vorstman JA (2012), “Is there a core neuropsychiatric phenotype in 22q11.2 deletion syndrome?” Curr Opin Neurol 25(2):131-7 Details 2011Baker K, Chaddock CA, Baldeweg T, Skuse D (2011), “Neuroanatomy in adolescents and young adults with 22q11 deletion syndrome: comparison to an IQ-matched group.” Neuroimage 55(2):491-9 Details Baker K, Northam GB, Chong WK, Banks T, Beales P, Baldeweg T (2011), “Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome.” Am J Med Genet A 155A(1):1-8 Details Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J, International 22q11.2 Deletion Syndrome Consortium (2011), “Practical guidelines for managing patients with 22q11.2 deletion syndrome.” J Pediatr 159(2):332-9.e1 Details Northam GB, Liégeois F, Chong WK, Baker K, Tournier JD, Wyatt JS, Baldeweg T, Morgan A (2011), “Speech and Oromotor Outcome in Adolescents Born Preterm: Relationship to Motor Tract Integrity.” J Pediatr Details 2009Baker K, Beales PL (2009), “Making sense of cilia in disease: the human ciliopathies.” Am J Med Genet C Semin Med Genet 151C(4):281-95 Details 2005Baker K, Baldeweg T, Sivagnanasundaram S, Scambler P, Skuse D (2005), “COMT Val108/158 Met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome.” Biol Psychiatry 58(1):23-31 Details Baker KD, Skuse DH (2005), “Adolescents and young adults with 22q11 deletion syndrome: psychopathology in an at-risk group.” Br J Psychiatry 186:115-20 Details |