| 37541188 | Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders. | Am J Hum Genet | 2023 |
| 36577842 | Golgi apparatus, endoplasmic reticulum and mitochondrial function implicated in Alzheimer's disease through polygenic risk and RNA sequencing. | | 2023 |
| 35137110 | Impact of introducing procalcitonin testing on antibiotic usage in acute NHS hospitals during the first wave of COVID-19 in the UK: a controlled interrupted time series analysis of organization-level data. | Journal of Antimicrobial Chemotherapy | 2022 |
| 35902822 | Health behaviour change among UK adults during the pandemic: findings from the COVID-19 cancer attitudes and behaviours study. | BMC Public Health | 2022 |
| 35876425 | MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia. | Mov Disord | 2022 |
| 35678782 | Rare pathogenic variants in WNK3 cause X-linked intellectual disability. | Genet Med | 2022 |
| 36411364 | Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease. | Nat Genet | 2022 |
| 36548137 | Procalcitonin Evaluation of Antibiotic Use in COVID-19 Hospitalised Patients (PEACH): Protocol for a Retrospective Observational Study. | Methods Protoc | 2022 |
| 34531224 | Cancer symptom experience and help-seeking behaviour during the COVID-19 pandemic in the UK: a cross-sectional population survey. | BMJ Open | 2021 |
| 34388204 | Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability. | PLoS One | 2021 |
| 34599921 | Intentions to participate in cervical and colorectal cancer screening during the COVID-19 pandemic: A mixed-methods study. | Preventive Medicine | 2021 |
| 30171209 | Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. | Mol Psychiatry | 2020 |
| 32472658 | DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia. | Mov Disord | 2020 |
| 31316545 | Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability. | Front Genet | 2019 |
| 31814998 | Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in <i>SCN1A</i>. | NPJ Genom Med | 2019 |
| 30353918 | Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum. | Clin Genet | 2019 |
| 30982612 | Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. | Am J Hum Genet | 2019 |
| 30820047 | Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. | Nat Genet | 2019 |
| 29434620 | Functional Analyses of a Novel Splice Variant in the <i>CHD7</i> Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome. | Front Genet | 2018 |
| 30345710 | Genotype-phenotype correlations in Darier disease: A focus on the neuropsychiatric phenotype. | American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics | 2018 |
| 30526862 | Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. | Am J Hum Genet | 2018 |
| 30526634 | Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing. | Genome Med | 2018 |
| 28041643 | Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. | Am J Hum Genet | 2017 |
| 28546572 | Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. | Nat Genet | 2017 |
| 28851079 | Genome-wide significant locus for Research Diagnostic Criteria Schizoaffective Disorder Bipolar type. | Am J Med Genet B Neuropsychiatr Genet | 2017 |
| 27457812 | Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. | Mol Psychiatry | 2017 |
| 27992417 | Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. | Nat Genet | 2017 |
| 28151491 | Clinical and molecular consequences of disease-associated de novo mutations in SATB2. | Genet Med | 2017 |
| 26490184 | MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. | J Hum Genet | 2016 |
| 25560756 | Copy number variation in bipolar disorder. | Mol Psychiatry | 2016 |
| 27061943 | Phenotypic insights into ADCY5-associated disease. | Mov Disord | 2016 |
| 26212592 | The Association of Interpersonal and Intrapersonal Emotional Experiences with Non-Suicidal Self-Injury in Young Adults. | Archives of Suicide Research | 2015 |
| 25705886 | Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. | J Clin Invest | 2015 |
| 26350204 | Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. | Hum Mutat | 2015 |
| 24680889 | De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. | Am J Hum Genet | 2014 |
| 24474471 | An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis. | Hum Mol Genet | 2014 |
| 23871472 | Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. | Biol Psychiatry | 2014 |
| 23070075 | Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample. | Mol Psychiatry | 2013 |
| 22565781 | Association at SYNE1 in both bipolar disorder and recurrent major depression. | Mol Psychiatry | 2013 |
| 23942012 | Bipolar Disorder is associated with the rs6971 polymorphism in the gene encoding 18 kDa Translocator Protein (TSPO). | Psychoneuroendocrinology | 2013 |
| 23933821 | Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. | Nat Genet | 2013 |
| 24127788 | Reduced burden of very large and rare CNVs in bipolar affective disorder. | Bipolar Disord | 2013 |
| 23356892 | Novel ATP2A2 mutations in a large sample of individuals with Darier disease. | | 2013 |
| 22083728 | De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. | Mol Psychiatry | 2012 |
| 22628130 | Genetic heterogeneity according to age at onset in bipolar disorder: a combined positional cloning and candidate gene approach. | Am J Med Genet B Neuropsychiatr Genet | 2012 |
| 22488967 | Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders. | American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics | 2012 |
| 21769101 | Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms. | Mol Psychiatry | 2012 |
| 22130109 | Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia. | Schizophr Res | 2012 |
| 21972277 | Polygenic dissection of the bipolar phenotype. | Br J Psychiatry | 2011 |
| 21445958 | DISC1 exon 11 rare variants found more commonly in schizoaffective spectrum cases than controls. | Am J Med Genet B Neuropsychiatr Genet | 2011 |