Search details
1.
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
Blood
; 141(23): 2853-2866, 2023 06 08.
Article
in English
| MEDLINE | ID: mdl-36952636
2.
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Hum Genet
; 140(7): 1011-1029, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-33710394
3.
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.
Acta Neuropathol
; 135(5): 727-742, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29423877
4.
Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies.
Nat Genet
; 38(5): 556-60, 2006 May.
Article
in English
| MEDLINE | ID: mdl-16582909
5.
Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis.
PLoS Genet
; 7(2): e1001293, 2011 Feb 03.
Article
in English
| MEDLINE | ID: mdl-21304894
6.
The Finnish disease heritage database (FinDis) update-a database for the genes mutated in the Finnish disease heritage brought to the next-generation sequencing era.
Hum Mutat
; 34(11): 1458-66, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-23904198
7.
Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.
Am J Hum Genet
; 86(2): 285-91, 2010 Feb 12.
Article
in English
| MEDLINE | ID: mdl-20159113
8.
Mutant CHUK and severe fetal encasement malformation.
N Engl J Med
; 363(17): 1631-7, 2010 Oct 21.
Article
in English
| MEDLINE | ID: mdl-20961246
9.
A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm.
J Med Genet
; 49(10): 621-9, 2012 Oct.
Article
in English
| MEDLINE | ID: mdl-23054244
10.
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Dis Model Mech
; 15(10)2022 10 01.
Article
in English
| MEDLINE | ID: mdl-36285626
11.
Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland.
Hum Mol Genet
; 18(15): 2912-21, 2009 Aug 01.
Article
in English
| MEDLINE | ID: mdl-19454485
12.
The genome-wide patterns of variation expose significant substructure in a founder population.
Am J Hum Genet
; 83(6): 787-94, 2008 Dec.
Article
in English
| MEDLINE | ID: mdl-19061986
13.
Identification of susceptibility loci at 7q31 and 9p13 for bipolar disorder in an isolated population.
Am J Med Genet B Neuropsychiatr Genet
; 153B(3): 723-35, 2010 Apr 05.
Article
in English
| MEDLINE | ID: mdl-19851985
14.
Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Eur J Hum Genet
; 28(4): 532, 2020 Apr.
Article
in English
| MEDLINE | ID: mdl-31506600
15.
Linkage analysis of schizophrenia controlling for population substructure.
Am J Med Genet B Neuropsychiatr Genet
; 150B(6): 827-35, 2009 Sep 05.
Article
in English
| MEDLINE | ID: mdl-19086037
16.
Impact of the dopamine receptor gene family on temperament traits in a population-based birth cohort.
Am J Med Genet B Neuropsychiatr Genet
; 150B(6): 854-65, 2009 Sep 05.
Article
in English
| MEDLINE | ID: mdl-19105202
17.
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Eur J Hum Genet
; 27(8): 1235-1243, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30914828
18.
Isolates and their potential use in complex gene mapping efforts.
Curr Opin Genet Dev
; 14(3): 316-23, 2004 Jun.
Article
in English
| MEDLINE | ID: mdl-15172676
19.
Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.
Mol Genet Genomic Med
; 6(1): 56-68, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29168350
20.
The role of DTNBP1, NRG1, and AKT1 in the genetics of schizophrenia in Finland.
Schizophr Res
; 91(1-3): 27-36, 2007 Mar.
Article
in English
| MEDLINE | ID: mdl-17300918