|
| 36653541 | Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition. | | 2023 |
| 35590014 | Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility. | Familial Cancer | 2023 |
| 35796883 | Psychiatric symptoms in Salla disease. | European Child and Adolescent Psychiatry | 2023 |
| 37578974 | Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility. | PLoS Genet | 2023 |
| 35087184 | A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development. | Eur J Hum Genet | 2022 |
| 35407445 | Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic Variants. | Journal of Clinical Medicine | 2022 |
| 33279852 | Exome sequencing identifies a recurrent variant in SERPINA3 associating with hereditary susceptibility to breast cancer. | European Journal of Cancer | 2021 |
| 33948933 | Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland. | Developmental Medicine and Child Neurology | 2021 |
| 33210792 | The ethical implications of genetic testing in neurodegenerative diseases: A systematic review. | Scandinavian Journal of Caring Sciences | 2021 |
| 33098347 | Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. | Am J Med Genet A | 2021 |
| 32902138 | Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome. | American Journal of Medical Genetics, Part A | 2020 |
| 31686011 | Evaluating the role of MLH3 p.Ser1188Ter variant in inherited breast cancer predisposition. | Genetics in Medicine | 2020 |
| 32805447 | X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant. | European Journal of Medical Genetics | 2020 |
| 30940925 | Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome). | Genet Med | 2019 |
| 31664900 | Analysis of functional variants in mitochondrial DNA of Finnish athletes. | BMC Genomics | 2019 |
| 30679432 | Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland. | Nat Commun | 2019 |
| 31203817 | Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies. | Genome Med | 2019 |
| 29801191 | Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases. | Neuropediatrics | 2018 |
| 28815563 | Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene. | Clinical Genetics | 2018 |
| 28657126 | A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss. | Clinical Genetics | 2018 |
| 29861106 | Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. | Am J Hum Genet | 2018 |
| 29483670 | Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. | Eur J Hum Genet | 2018 |
| 29300369 | Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. | Genet Med | 2018 |
| 29288294 | Haplotype analysis suggest that the MLH1 c.2059Câ¿¿>â¿¿T mutation is a Swedish founder mutation. | Familial Cancer | 2018 |
| 29423877 | NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease. | Acta Neuropathologica | 2018 |
| 28187756 | A novel MTTT mutation m.15933Gâ¿¿>â¿¿A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease. | BMC Medical Genetics | 2017 |
| 27362913 | The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. | Genet Med | 2017 |
| 27311568 | Identification of C12orf4 as a gene for autosomal recessive intellectual disability. | Clin Genet | 2017 |
| 28216384 | 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 |
| 28202457 | Gain-of-function mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms. | Blood | 2017 |
| 27980752 | Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family. | Clinical Case Reports (discontinued) | 2016 |
| 26974950 | Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. | Nat Neurosci | 2016 |
| 26416184 | The Quality of Genetic Counseling and Connected Factors as Evaluated by Male BRCA1/2 Mutation Carriers in Finland. | Journal of Genetic Counseling | 2016 |
| 26448634 | Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms. | Acta Ophthalmologica | 2016 |
| 27648933 | Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. | Am J Med Genet A | 2016 |
| 26061870 | Human Chromosome Y and Haplogroups; introducing YDHS Database. | Clinical and Translational Medicine | 2015 |
| 25472942 | Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. | Cancer Discov | 2015 |
| 26071818 | Epidemiology of early-onset Parkinson's disease in Finland. | Parkinsonism and Related Disorders | 2015 |
| 25078763 | Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome. | European Journal of Medical Genetics | 2014 |
| 24341918 | 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 |
| 23963299 | Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1. | European Journal of Human Genetics | 2014 |
| 25099575 | Breast-cancer risk in families with mutations in PALB2. | N Engl J Med | 2014 |
| 23621943 | The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. | Orphanet J Rare Dis | 2013 |
| 23870133 | Mitochondrial DNA variant m.15218Aâ¿¿>â¿¿G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus. | BMC Medical Genetics | 2013 |
| 23941127 | Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families. | BMC Medical Genetics | 2013 |
| 23595122 | WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims. | Journal of Human Genetics | 2013 |
| 23044044 | Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosis. | | 2013 |
| 22265015 | Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. | Am J Hum Genet | 2012 |
| 22780954 | Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus. | BMC Research Notes | 2012 |
| 23087324 | De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases. | Journal of Clinical Endocrinology and Metabolism | 2012 |