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Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

Cancer discovery, 2015-02, Vol.5 (2), p.135-142

2015

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Analysis of functional variants in mitochondrial DNA of Finnish athletes

BMC genomics, 2019-10, Vol.20 (1), p.784-784, Article 784

2019

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Clinical, radiological and histopathological features of patients with familial pulmonary fibrosis

Respiratory research, 2024-06, Vol.25 (1), p.239-13

2024

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Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

Nature communications, 2019-01, Vol.10 (1), p.410-410, Article 410

2019

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Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children

Annals of neurology, 2007-09, Vol.62 (3), p.278-287

2007

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Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants

Journal of clinical medicine, 2022-03, Vol.11 (7), p.1837

2022

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Human Chromosome Y and Haplogroups; introducing YDHS Database

Clinical and translational medicine, 2015-12, Vol.4 (1), p.1-9

2015

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A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects

European journal of human genetics : EJHG, 2005-02, Vol.13 (2), p.166-170

2005

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Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus

BMC research notes, 2012-07, Vol.5 (1), p.350-350, Article 350

2012

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Neurological manifestations in adult patients with the m.3243A>G variant in mitochondrial DNA

BMJ neurology open, 2024-09, Vol.6 (2), p.e000825

2024

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WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims

Journal of human genetics, 2013-08, Vol.58 (8), p.495-500

2013

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Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities

Developmental medicine and child neurology, 2024-07

2024

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Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland

Developmental medicine and child neurology, 2021-09, Vol.63 (9), p.1066-1074

2021

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The co‐occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific

Aging cell, 2014-06, Vol.13 (3), p.401-407

2014

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The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Genetics in medicine, 2017-01, Vol.19 (1), p.104-111

2017

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Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

Journal of allergy and clinical immunology, 2010-02, Vol.125 (2), p.424-432.e8

2010

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Epidemiology of early-onset Parkinson's disease in Finland

Parkinsonism & related disorders, 2015-08, Vol.21 (8), p.938-942

2015

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Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1

European journal of human genetics : EJHG, 2014-04, Vol.22 (4), p.522-527

2014

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Novel variants in Nordic patients referred for genetic testing of telomere-related disorders

European journal of human genetics : EJHG, 2018-06, Vol.26 (6), p.858-867

2018

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Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction

Molecular genetics and metabolism, 2017-04, Vol.120 (4), p.337-341

2017

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Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases

Neuropediatrics, 2018-08, Vol.49 (4), p.256-261

2018

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De Novo STX16 Deletions: An Infrequent Cause of Pseudohypoparathyroidism Type Ib that Should Be Excluded in Sporadic Cases

The journal of clinical endocrinology and metabolism, 2012-12, Vol.97 (12), p.E2314-E2319

2012

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The Quality of Genetic Counseling and Connected Factors as Evaluated by Male BRCA1/2 Mutation Carriers in Finland

Journal of genetic counseling, 2016-06, Vol.25 (3), p.413-421

2016

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Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Genetics in medicine, 2018-09, Vol.20 (9), p.1098-1098

2018

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Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

Analysis of functional variants in mitochondrial DNA of Finnish athletes

Clinical, radiological and histopathological features of patients with familial pulmonary fibrosis

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants

Human Chromosome Y and Haplogroups; introducing YDHS Database

A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects

Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus

Neurological manifestations in adult patients with the m.3243A>G variant in mitochondrial DNA

WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims

Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities

Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland

The co‐occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

Epidemiology of early-onset Parkinson's disease in Finland

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1

Novel variants in Nordic patients referred for genetic testing of telomere-related disorders

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease

Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases

De Novo STX16 Deletions: An Infrequent Cause of Pseudohypoparathyroidism Type Ib that Should Be Excluded in Sporadic Cases

The Quality of Genetic Counseling and Connected Factors as Evaluated by Male BRCA1/2 Mutation Carriers in Finland

Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

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