Teppo Varilo
Overview
Explore the profile of Teppo Varilo including associated specialties, affiliations and a list of published articles.
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40
Citations
1634
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Recent Articles
1.
Hakkarainen M, Kaaja I, Douglas S, Vulliamy T, Dokal I, Soulier J, et al.
Blood
. 2023 Mar;
141(23):2853-2866.
PMID: 36952636
Biallelic germ line excision repair cross-complementing 6 like 2 (ERCC6L2) variants strongly predispose to bone marrow failure (BMF) and myeloid malignancies, characterized by somatic TP53-mutated clones and erythroid predominance. We...
2.
Uusimaa J, Kettunen J, Varilo T, Jarvela I, Kallijarvi J, Kaariainen H, et al.
Dis Model Mech
. 2022 Oct;
15(10).
PMID: 36285626
Isolated populations have been valuable for the discovery of rare monogenic diseases and their causative genetic variants. Finnish disease heritage (FDH) is an example of a group of hereditary monogenic...
3.
Jarvela I, Maatta T, Acharya A, Leppala J, Jhangiani S, Arvio M, et al.
Hum Genet
. 2021 Mar;
140(7):1011-1029.
PMID: 33710394
The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be of interest to study intellectual disability (ID) and the...
4.
Polla D, Rahikkala E, Bode M, Maatta T, Varilo T, Loman T, et al.
Eur J Hum Genet
. 2019 Sep;
28(4):532.
PMID: 31506600
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
5.
Polla D, Rahikkala E, Bode M, Maatta T, Varilo T, Loman T, et al.
Eur J Hum Genet
. 2019 Mar;
27(8):1235-1243.
PMID: 30914828
Intellectual disability (ID), megalencephaly, frontal predominant pachygyria, and seizures, previously called "thin" lissencephaly, are reported to be caused by recessive variants in CRADD. Among five families of different ethnicities identified,...
6.
Uusimaa J, Kaarteenaho R, Paakkola T, Tuominen H, Karjalainen M, Nadaf J, et al.
Acta Neuropathol
. 2018 Feb;
135(5):727-742.
PMID: 29423877
A novel multi-organ disease that is fatal in early childhood was identified in three patients from two non-consanguineous families. These children were born asymptomatic but at the age of 2 ...
7.
Luukkonen T, Mehrjouy M, Poyhonen M, Anttonen A, Lahermo P, Ellonen P, et al.
Mol Genet Genomic Med
. 2017 Nov;
6(1):56-68.
PMID: 29168350
Background: The risk of serious congenital anomaly for de novo balanced translocations is estimated to be at least 6%. We identified two apparently independent families with a balanced t(1;12)(q43;q21.1) as...
8.
Misiewicz Z, Hiekkalinna T, Paunio T, Varilo T, Terwilliger J, Partonen T, et al.
Sci Rep
. 2016 Dec;
6:39345.
PMID: 27996024
Acrophobia, an abnormal fear of heights, is a specific phobia characterized as apprehension cued by the occurrence or anticipation of elevated spaces. It is considered a complex trait with onset...
9.
Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders
Stoll G, Pietilainen O, Linder B, Suvisaari J, Brosi C, Hennah W, et al.
Nat Neurosci
. 2013 Aug;
16(9):1228-1237.
PMID: 23912948
Implicating particular genes in the generation of complex brain and behavior phenotypes requires multiple lines of evidence. The rarity of most high-impact genetic variants typically precludes the possibility of accruing...
10.
Polvi A, Linturi H, Varilo T, Anttonen A, Byrne M, Fokkema I, et al.
Hum Mutat
. 2013 Aug;
34(11):1458-66.
PMID: 23904198
The Finnish Disease Heritage Database (FinDis) (http://findis.org) was originally published in 2004 as a centralized information resource for rare monogenic diseases enriched in the Finnish population. The FinDis database originally...