List of works - Jukka S Moilanen

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

scientific article published on 01 February 2005

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

scientific article

A new family with autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS)

A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

scientific article

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

scientific article published on 28 January 2022

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.

scientific article published on 31 May 2006

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

scientific article

Biogenesis of the mitochondrial respiratory chain in children with severe multiorgan disorders

scholarly article by Reetta Hinttala published in September 2012

Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene.

scientific article published on 16 August 2017

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

scientific article

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

scientific article published on 4 January 2018

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

scientific article published on 16 December 2019

Clinical and genetic characteristics of late-onset Huntington's disease

scientific article

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

scientific article published on 29 July 2014

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

scholarly article published 28 May 2018

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

scientific article published in Nature Communications

De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases

scientific article

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

scientific article

Epidemiology of early-onset Parkinson's disease in Finland

scientific article

Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families

scientific article

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

scientific article published on 17 June 2019

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

scientific article published on 15 February 2017

Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms

scientific article published on 8 October 2015

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

scientific article

Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.

scientific article published on 29 December 2017

Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus

scientific article

Human Chromosome Y and Haplogroups; introducing YDHS Database

scientific article

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

scientific article

Increased variation in mtDNA in patients with familial sensorineural hearing impairment

scientific article

Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J

scientific article (publication date: December 2003)

Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia

scientific article published on 24 April 2004

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL

scientific article published on 29 June 2006

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL

Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus

scientific article

Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus

scientific article

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

scientific article

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

scientific article

Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosis

scientific article published on 06 October 2012

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

scientific article published on 8 February 2018

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

scientific article published on 25 May 2018

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family

scientific article published on 26 October 2016

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

scientific article published on 6 February 2017

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

scientific article published on 26 February 2018

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

article

Phylogenetic network and physicochemical properties of nonsynonymous mutations in the protein-coding genes of human mitochondrial DNA.

scientific article published on 30 May 2003

Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6

scientific article published on 01 September 2019

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

scientific article published in September 2007

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

scientific article

Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G

scientific article published on 01 January 2001

Sequence variation in the tRNA genes of human mitochondrial DNA.

scientific article

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

scientific article published on 21 August 2013

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

scientific article

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

scientific article

The ethical implications of genetic testing in neurodegenerative diseases: A systematic review

scientific article published on 19 November 2020

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

scientific article published on 30 June 2016

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

scientific article

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

scientific article published on 18 April 2013

List of works by Jukka S Moilanen

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

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

A new family with autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS)

A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

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

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

Biogenesis of the mitochondrial respiratory chain in children with severe multiorgan disorders

Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene.

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

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

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Clinical and genetic characteristics of late-onset Huntington's disease

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

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

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

De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

Epidemiology of early-onset Parkinson's disease in Finland

Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

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

Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.

Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus

Human Chromosome Y and Haplogroups; introducing YDHS Database

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

Increased variation in mtDNA in patients with familial sensorineural hearing impairment

Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J

Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL

Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus

Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosis

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

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family

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

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

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

Phylogenetic network and physicochemical properties of nonsynonymous mutations in the protein-coding genes of human mitochondrial DNA.

Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6

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

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G

Sequence variation in the tRNA genes of human mitochondrial DNA.

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

The Quality of Genetic Counseling and Connected Factors as Evaluated by Male BRCA1/2 Mutation Carriers in 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 ethical implications of genetic testing in neurodegenerative diseases: A systematic review

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

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

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