Dr Kate Baker

Kate Baker

University position

Programme Leader


Department of Medical Genetics



Research Themes

Developmental Neuroscience

Cognitive and Behavioural Neuroscience


Genomic 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


None specified

Clinical conditions

Cognitive impairment


Genetic disorders

Language disorders

Learning disabilities

Movement disorders


Behavioural analysis

Electroencephalography (EEG)

Magnetic resonance imaging (MRI)

Neuropsychological testing



Duncan Astle

Jessica Barnes

Paul Fletcher

United Kingdom

Torsten Baldeweg

Gaia Scerif

Associated News Items



    Habel 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


    Baker 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


    Baker 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


    Baker 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


    Baker 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


    Baker 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