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Sex Steroid Hormone Analysis in Human Tear Fluid Using a Liquid Chromatography-Mass Spectrometry Method

International journal of molecular sciences, 2022-11, Vol.23 (23), p.14864

2022

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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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Investigating the Role of Specific Tear Film Lipids Connected to Dry Eye Syndrome: A Study on O‑Acyl-ω-hydroxy Fatty Acids and Diesters

Langmuir, 2019-03, Vol.35 (9), p.3545-3552

2019

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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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Extracellular small non-coding RNA contaminants in fetal bovine serum and serum-free media

Scientific reports, 2019-04, Vol.9 (1), p.5538-5538, Article 5538

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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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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Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability

European journal of human genetics : EJHG, 2024-05, Vol.32 (5), p.576-583

2024

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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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Evaluating the role of MLH3 p.Ser1188Ter variant in inherited breast cancer predisposition

Genetics in medicine, 2020-03, Vol.22 (3), p.663-664

2020

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Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility

PLoS genetics, 2023-08, Vol.19 (8), p.e1010889-e1010889

2023

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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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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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A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

European journal of human genetics : EJHG, 2022-05, Vol.30 (5), p.619-627

2022

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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 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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Publisher Correction: Extracellular small non-coding RNA contaminants in fetal bovine serum and serum-free media

Scientific reports, 2020-01, Vol.10 (1), p.1369-1369, Article 1369

2020

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X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant

European journal of medical genetics, 2020-11, Vol.63 (11), p.104040-104040, Article 104040

2020

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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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Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Sex Steroid Hormone Analysis in Human Tear Fluid Using a Liquid Chromatography-Mass Spectrometry Method

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

Investigating the Role of Specific Tear Film Lipids Connected to Dry Eye Syndrome: A Study on O‑Acyl-ω-hydroxy Fatty Acids and Diesters

Analysis of functional variants in mitochondrial DNA of Finnish athletes

Extracellular small non-coding RNA contaminants in fetal bovine serum and serum-free media

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

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

Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability

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

Evaluating the role of MLH3 p.Ser1188Ter variant in inherited breast cancer predisposition

Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility

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

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

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

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

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

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

Publisher Correction: Extracellular small non-coding RNA contaminants in fetal bovine serum and serum-free media

X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant

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

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

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