Detalhe da pesquisa
1.
FinnGen provides genetic insights from a well-phenotyped isolated population.
Nature
; 613(7944): 508-518, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36653562
2.
Genetic associations of protein-coding variants in human disease.
Nature
; 603(7899): 95-102, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35197637
3.
Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population.
Nature
; 615(7952): E19, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36829046
4.
Analysis of protein-coding genetic variation in 60,706 humans.
Nature
; 536(7616): 285-91, 2016 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-27535533
5.
Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland.
Am J Hum Genet
; 102(5): 760-775, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706349
6.
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.
Am J Hum Genet
; 102(6): 1204-1211, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861106
7.
A multiomic approach to characterize the temporal sequence in Alzheimer's disease-related pathology.
Neurobiol Dis
; 124: 454-468, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30557660
8.
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
Am J Hum Genet
; 99(3): 683-694, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545674
9.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Am J Hum Genet
; 99(4): 991-999, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693232
10.
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Genet Med
; 21(10): 2355-2363, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30940925
11.
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Genet Med
; 21(12): 2723-2733, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31239556
12.
Saccular Intracranial Aneurysms in Children When Both Parents Are Sporadic or Familial Carriers of Saccular Intracranial Aneurysms.
Neuroepidemiology
; 52(1-2): 47-54, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476927
13.
Irregular Shape Identifies Ruptured Intracranial Aneurysm in Subarachnoid Hemorrhage Patients With Multiple Aneurysms.
Stroke
; 48(7): 1986-1989, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28468927
14.
High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms.
PLoS Genet
; 10(1): e1004134, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24497844
15.
De Novo Aneurysm Formation in Carriers of Saccular Intracranial Aneurysm Disease in Eastern Finland.
Stroke
; 47(5): 1213-8, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27026632
16.
Antidepressant Use After Aneurysmal Subarachnoid Hemorrhage: A Population-Based Case-Control Study.
Stroke
; 47(9): 2242-8, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27486167
17.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Am J Hum Genet
; 100(1): 179, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28061364
18.
Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.
Epilepsia
; 56(9): e129-33, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26174448
19.
Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7.
Stroke
; 45(11): 3194-9, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25256182
20.
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.
Eur J Hum Genet
; 32(5): 576-583, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38467730