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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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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

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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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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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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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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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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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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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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Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion

European journal of medical genetics, 2020-10, Vol.63 (10), p.104010, Article 104010

2020

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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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Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability

Human genetics, 2021-07, Vol.140 (7), p.1011

2021

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Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)

European journal of biochemistry, 2001-11, Vol.268 (22), p.5851-5856

2001

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Association of the arginine vasopressin receptor 1A ( ) haplotypes with listening to music

Journal of human genetics, 2011-04, Vol.56 (4), p.324-329

2011

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Assignment of the Locus for Congenital Lactase Deficiency to 2q21, in the Vicinity of but Separate from the Lactase-Phlorizin Hydrolase Gene

American journal of human genetics, 1998-10, Vol.63 (4), p.1078-1085

1998

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Adenomatous Polyposis Families That Screen APC Mutation–Negative by Conventional Methods Are Genetically Heterogeneous

Journal of clinical oncology, 2005-08, Vol.23 (24), p.5651-5659

2005

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Mutations in the Translated Region of the Lactase Gene ( LCT) Underlie Congenital Lactase Deficiency

American journal of human genetics, 2006-02, Vol.78 (2), p.339-344

2006

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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

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

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

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

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

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?

Convergent evidence for the molecular basis of musical traits

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

Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion

Identification of a variant associated with adult-type hypolactasia

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability

Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)

Association of the arginine vasopressin receptor 1A ( ) haplotypes with listening to music

Assignment of the Locus for Congenital Lactase Deficiency to 2q21, in the Vicinity of but Separate from the Lactase-Phlorizin Hydrolase Gene

Adenomatous Polyposis Families That Screen APC Mutation–Negative by Conventional Methods Are Genetically Heterogeneous

Mutations in the Translated Region of the Lactase Gene ( LCT) Underlie Congenital Lactase Deficiency

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