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

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

2022

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

European journal of human genetics : EJHG, 2019-08, Vol.27 (8), p.1235-1243

2019

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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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X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

Orphanet journal of rare diseases, 2014-04, Vol.9 (1), p.49-49, Article 49

2014

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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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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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A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27

American journal of human genetics, 2002-10, Vol.71 (4), p.777-790

2002

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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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Creative Activities in Music--A Genome-Wide Linkage Analysis

PloS one, 2016-02, Vol.11 (2), p.e0148679-e0148679

2016

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Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music

PloS one, 2013-02, Vol.8 (2), p.e56356

2013

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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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Musical aptitude is associated with AVPR1A-haplotypes

PloS one, 2009-05, Vol.4 (5), p.e5534-e5534

2009

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Causes of Death of Professional Musicians in the Classical Genre

Medical problems of performing artists, 2019-06, Vol.34 (2), p.92-97

2019

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Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause

Journal of human genetics, 2008-06, Vol.53 (6), p.554-558

2008

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Detecting signatures of positive selection associated with musical aptitude in the human genome

Scientific reports, 2016-02, Vol.6 (1), p.21198-21198, Article 21198

2016

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Identification of a variant associated with adult-type hypolactasia

Nature genetics, 2002-02, Vol.30 (2), p.233-237

2002

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Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

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

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

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

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

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

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

A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27

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

Creative Activities in Music--A Genome-Wide Linkage Analysis

Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music

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

Musical aptitude is associated with AVPR1A-haplotypes

Causes of Death of Professional Musicians in the Classical Genre

Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause

Detecting signatures of positive selection associated with musical aptitude in the human genome

Identification of a variant associated with adult-type hypolactasia

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