Detalhe da pesquisa
1.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
N Engl J Med
; 385(20): 1868-1880, 2021 11 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34758253
2.
Rapid genome sequencing for pediatrics.
Hum Mutat
; 43(11): 1507-1518, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36086948
3.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Am J Hum Genet
; 100(2): 281-296, 2017 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28132690
4.
De novo mutations in schizophrenia implicate synaptic networks.
Nature
; 506(7487): 179-84, 2014 Feb 13.
Artigo
Inglês
| MEDLINE | ID: mdl-24463507
5.
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.
J Med Genet
; 55(11): 721-728, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30049826
6.
Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target.
Acta Neuropathol
; 135(5): 757-777, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29541918
7.
Information Is the Resolution of Uncertainty: Whole Genome Approaches to Genetic Diagnosis on the PICU.
Pediatr Crit Care Med
; 20(11): 1087-1088, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31688678
8.
Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries.
Hum Mol Genet
; 20(2): 387-91, 2011 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-21037240
9.
Schizophrenia two-hit hypothesis in velo-cardio facial syndrome.
Am J Med Genet B Neuropsychiatr Genet
; 162B(2): 177-82, 2013 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23335482
10.
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.
J Clin Endocrinol Metab
; 107(1): e254-e263, 2022 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34402903
11.
Association between TCF4 and schizophrenia does not exert its effect by common nonsynonymous variation or by influencing cis-acting regulation of mRNA expression in adult human brain.
Am J Med Genet B Neuropsychiatr Genet
; 156B(7): 781-4, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21812098
12.
Phenotype evaluation and genomewide linkage study of clinical variables in schizophrenia.
Am J Med Genet B Neuropsychiatr Genet
; 156B(8): 929-40, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21960518
13.
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.
J Clin Invest
; 131(24)2021 12 15.
Artigo
Inglês
| MEDLINE | ID: mdl-34730112
14.
Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene.
Neurol Genet
; 6(4): e448, 2020 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-32637631
15.
Schizophrenia genetics: new insights from new approaches.
Br Med Bull
; 91: 61-74, 2009.
Artigo
Inglês
| MEDLINE | ID: mdl-19443537
16.
New findings from genetic association studies of schizophrenia.
J Hum Genet
; 54(1): 9-14, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19158819
17.
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.
J Clin Endocrinol Metab
; 104(12): 5737-5750, 2019 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31504653
18.
Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.
EBioMedicine
; 42: 470-480, 2019 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-30878599
19.
Further evidence for the association of MMP9 with nephropathy in type 2 diabetes and application of DNA pooling technology to candidate gene screening.
J Nephrol
; 21(3): 400-5, 2008.
Artigo
Inglês
| MEDLINE | ID: mdl-18587729
20.
Association analysis of AKT1 and schizophrenia in a UK case control sample.
Schizophr Res
; 93(1-3): 58-65, 2007 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-17383860