Detalhe da pesquisa
1.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet
; 110(8): 1343-1355, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541188
2.
Golgi apparatus, endoplasmic reticulum and mitochondrial function implicated in Alzheimer's disease through polygenic risk and RNA sequencing.
Mol Psychiatry
; 28(3): 1327-1336, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36577842
3.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Am J Hum Genet
; 104(5): 948-956, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982612
4.
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.
J Antimicrob Chemother
; 77(4): 1189-1196, 2022 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35137110
5.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Genet Med
; 24(9): 1941-1951, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35678782
6.
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Mov Disord
; 37(10): 2139-2146, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35876425
7.
Health behaviour change among UK adults during the pandemic: findings from the COVID-19 cancer attitudes and behaviours study.
BMC Public Health
; 22(1): 1437, 2022 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35902822
8.
Intentions to participate in cervical and colorectal cancer screening during the COVID-19 pandemic: A mixed-methods study.
Prev Med
; 153: 106826, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34599921
9.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Am J Hum Genet
; 100(1): 75-90, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28041643
10.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Mov Disord
; 35(8): 1357-1368, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32472658
11.
Genotype-phenotype correlations in Darier disease: A focus on the neuropsychiatric phenotype.
Am J Med Genet B Neuropsychiatr Genet
; 177(8): 717-726, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30345710
12.
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
; 94(4): 618-24, 2014 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24680889
13.
Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Genet Med
; 19(8): 900-908, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28151491
14.
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
Nat Genet
; 40(9): 1056-8, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18711365
15.
Genome-wide significant locus for Research Diagnostic Criteria Schizoaffective Disorder Bipolar type.
Am J Med Genet B Neuropsychiatr Genet
; 174(8): 767-771, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28851079
16.
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.
Hum Mol Genet
; 23(12): 3316-26, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24474471
17.
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.
J Hum Genet
; 61(2): 95-101, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26490184
18.
Phenotypic insights into ADCY5-associated disease.
Mov Disord
; 31(7): 1033-40, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27061943
19.
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Hum Mutat
; 36(12): 1197-204, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26350204
20.
Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum.
Clin Genet
; 95(2): 334-335, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30353918