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Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

Human molecular genetics, 2009-04, Vol.18 (8), p.1497-1503

2009

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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Genome medicine, 2018-12, Vol.10 (1), p.95-95, Article 95

2018

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Cancer symptom experience and help-seeking behaviour during the COVID-19 pandemic in the UK: a cross-sectional population survey

BMJ open, 2021-09, Vol.11 (9), p.e053095-e053095

2021

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De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

American journal of human genetics, 2014-04, Vol.94 (4), p.618-624

2014

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Health behaviour change among UK adults during the pandemic: findings from the COVID-19 cancer attitudes and behaviours study

BMC public health, 2022-07, Vol.22 (1), p.1-1437, Article 1437

2022

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MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

Journal of human genetics, 2016-02, Vol.61 (2), p.95-101

2016

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Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability

Frontiers in genetics, 2019-06, Vol.10, p.578-578

2019

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Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome

Frontiers in genetics, 2018-01, Vol.9, p.7-7

2018

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Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Npj genomic medicine, 2019-12, Vol.4 (1), p.31-11, Article 31

2019

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P2RX7: A bipolar and unipolar disorder candidate susceptibility gene?

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2009-12, Vol.150B (8), p.1063-1069

2009

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Affective temperaments across the bipolar–unipolar spectrum: Examination of the TEMPS-A in 927 patients and controls

Journal of affective disorders, 2010-06, Vol.123 (1), p.42-51

2010

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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, 2012-06, Vol.159B (4), p.465-475

2012

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Novel ATP2A2 mutations in a large sample of individuals with Darier disease

Journal of dermatology, 2013-04, Vol.40 (4), p.259-266

2013

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Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease

Nature genetics, 2022-12, Vol.54 (12), p.1786-1794

2022

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Golgi apparatus, endoplasmic reticulum and mitochondrial function implicated in Alzheimer's disease through polygenic risk and RNA sequencing

Molecular psychiatry, 2023-03, Vol.28 (3), p.1327-1336

2023

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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Human mutation, 2015-12, Vol.36 (12), p.1197-1204

2015

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Genotype–phenotype correlations in Darier disease: A focus on the neuropsychiatric phenotype

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2018-12, Vol.177 (8), p.717-726

2018

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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Nature genetics, 2017-02, Vol.49 (2), p.223-237

2017

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Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC

Molecular psychiatry, 2013-06, Vol.18 (6), p.708-712

2013

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Identification of pathways for bipolar disorder: a meta-analysis

JAMA psychiatry (Chicago, Ill.), 2014-06, Vol.71 (6), p.657

2014

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Intentions to participate in cervical and colorectal cancer screening during the COVID-19 pandemic: A mixed-methods study

Preventive medicine, 2021-12, Vol.153, p.106826-106826, Article 106826

2021

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Microduplications of 16p11.2 are associated with schizophrenia

Nature genetics, 2009-11, Vol.41 (11), p.1223-1227

2009

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Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling

The Journal of clinical investigation, 2015-04, Vol.125 (4), p.1670-1678

2015

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Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Cancer symptom experience and help-seeking behaviour during the COVID-19 pandemic in the UK: a cross-sectional population survey

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

Health behaviour change among UK adults during the pandemic: findings from the COVID-19 cancer attitudes and behaviours study

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

P2RX7: A bipolar and unipolar disorder candidate susceptibility gene?

Procalcitonin Evaluation of Antibiotic Use in COVID-19 Hospitalised Patients (PEACH): Protocol for a Retrospective Observational Study

Affective temperaments across the bipolar–unipolar spectrum: Examination of the TEMPS-A in 927 patients and controls

Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders

Novel ATP2A2 mutations in a large sample of individuals with Darier disease

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease

Golgi apparatus, endoplasmic reticulum and mitochondrial function implicated in Alzheimer's disease through polygenic risk and RNA sequencing

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Genotype–phenotype correlations in Darier disease: A focus on the neuropsychiatric phenotype

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC

Identification of pathways for bipolar disorder: a meta-analysis

Intentions to participate in cervical and colorectal cancer screening during the COVID-19 pandemic: A mixed-methods study

Microduplications of 16p11.2 are associated with schizophrenia

Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling

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