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Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

Scientific reports, 2024-05, Vol.14 (1), p.11239-11239, Article 11239

2024

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Y402H Polymorphism of Complement Factor H Affects Binding Affinity to C-Reactive Protein

Journal of Immunology, 2007-03, Vol.178 (6), p.3831-3836

2007

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Genomics studies on musical aptitude, music perception, and practice

Annals of the New York Academy of Sciences, 2018-07, Vol.1423 (1), p.82-91

Järvelä, Irma

2018

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The Finnish genetic heritage in 2022 – from diagnosis to translational research

Disease models & mechanisms, 2022-10, Vol.15 (10)

2022

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The IL-8 , VEGF , and CFH Polymorphisms and Bevacizumab in Age-related Macular Degeneration

Ophthalmology (Rochester, Minn.), 2014-04, Vol.121 (4), p.973-974.e2

2014

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Interleukin 8 promoter polymorphism predicts the initial response to bevacizumab treatment for exudative age-related macular degeneration

Retina (Philadelphia, Pa.), 2013-10, Vol.33 (9), p.1815-1827

2013

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Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

European journal of human genetics : EJHG, 2020-04, Vol.28 (4), p.532-532

2020

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Linkage and candidate gene studies of autism spectrum disorders in European populations

European journal of human genetics : EJHG, 2010-09, Vol.18 (9), p.1013-1019

2010

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Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway

Human molecular genetics, 2004-12, Vol.13 (23), p.3017-3027

2004

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O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects

Genetics in Medicine Open, 2024, Vol.2, p.101469, Article 101469

2024

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Music-listening regulates human microRNA expression

Epigenetics, 2021-05, Vol.16 (5), p.554-566

2021

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Lactase persistence genotypes and malaria susceptibility in Fulani of Mali

Malaria journal, 2011-01, Vol.10 (1), p.9-9, Article 9

2011

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Association of LOXL1 gene with Finnish exfoliation syndrome patients

Journal of human genetics, 2009-05, Vol.54 (5), p.289-297

2009

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Acquisition of complement factor H is important for pathogenesis of Streptococcus pyogenes infections: evidence from bacterial in vitro survival and human genetic association

The Journal of immunology (1950), 2012-01, Vol.188 (1), p.426-435

2012

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Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families

Annals of neurology, 2006-01, Vol.59 (1), p.145-155

2006

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Lactase Persistence, Dietary Intake of Milk, and the Risk for Prostate Cancer in Sweden and Finland

Cancer epidemiology, biomarkers & prevention, 2007-05, Vol.16 (5), p.956-961

2007

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Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)

BMC gastroenterology, 2009-01, Vol.9 (1), p.8-8, Article 8

2009

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Molecular Analysis of Familial Endometrial Carcinoma: A Manifestation of Hereditary Nonpolyposis Colorectal Cancer or a Separate Syndrome?

Journal of clinical oncology, 2005-07, Vol.23 (21), p.4609-4616

2005

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Analysis of four neuroligin genes as candidates for autism

European journal of human genetics : EJHG, 2005-12, Vol.13 (12), p.1285-1292

2005

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Convergent evidence for the molecular basis of musical traits

Scientific reports, 2016-12, Vol.6 (1), p.39707-39707, Article 39707

2016

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Genomics approaches to study musical aptitude

BioEssays, 2014-11, Vol.36 (11), p.1102-1108

2014

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Molecular genetics of adult-type hypolactasia

Annals of medicine (Helsinki), 2005-01, Vol.37 (3), p.179-185

Järvelä, Irma E.

2005

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A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria

American journal of medical genetics. Part A, 2024-04, Vol.194 (4), p.e63478-n/a

2024

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Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration

PloS one, 2008-12, Vol.3 (12), p.e3833-e3833

2008

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Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

Y402H Polymorphism of Complement Factor H Affects Binding Affinity to C-Reactive Protein

Genomics studies on musical aptitude, music perception, and practice

The Finnish genetic heritage in 2022 – from diagnosis to translational research

The IL-8 , VEGF , and CFH Polymorphisms and Bevacizumab in Age-related Macular Degeneration

Interleukin 8 promoter polymorphism predicts the initial response to bevacizumab treatment for exudative age-related macular degeneration

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

Linkage and candidate gene studies of autism spectrum disorders in European populations

Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway

O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects

Music-listening regulates human microRNA expression

Lactase persistence genotypes and malaria susceptibility in Fulani of Mali

Association of LOXL1 gene with Finnish exfoliation syndrome patients

Acquisition of complement factor H is important for pathogenesis of Streptococcus pyogenes infections: evidence from bacterial in vitro survival and human genetic association

Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families

Lactase Persistence, Dietary Intake of Milk, and the Risk for Prostate Cancer in Sweden and Finland

Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

Molecular Analysis of Familial Endometrial Carcinoma: A Manifestation of Hereditary Nonpolyposis Colorectal Cancer or a Separate Syndrome?

Analysis of four neuroligin genes as candidates for autism

Convergent evidence for the molecular basis of musical traits

Genomics approaches to study musical aptitude

Molecular genetics of adult-type hypolactasia

A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria

Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration

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