Kristiina Tammimies

Comparing the Phenotypic and Genetic Differences Between Autistic Regression and Autism Without Regression Using the SPARK Cohort

The paper compares phenotypic and genetic differences between autistic regression and autism without regression using the SPARK cohort, finding increased neurodevelopmental morbidity and minimal genetic explanation.

Recalculated CNV penetrance: what it does and does not change for counselling

The paper recalculates CNV penetrance for intellectual disability, showing lower estimates due to methodological differences, and recommends phenotype-specific risk reporting.

A survey-based study investigating opinions on genetic research among Swedish autistic individuals and parents of autistic children

This study surveys Swedish autistic individuals and parents to assess their attitudes toward genetic research, finding generally positive views with concerns about misuse and eugenics.

Transcriptomic-guided compound prioritization and proteomics validation for HNRNPU deficiency identify signalling correction

The paper develops a transcriptomic-guided compound prioritization pipeline and validates it with proteomics, identifying two compounds that partially rescue HNRNPU deficiency phenotypes.

Assessing Swedish Genetic Counselling Outcome Measures for Autism and General Use: Rasch Findings Highlight the Need for Improved Measures

This study adapts and evaluates a Swedish autism-specific version of the GCOS-24 genetic counselling outcome measure using Rasch analysis, revealing psychometric issues that require measure refinement.

Molecular interactome of HNRNPU reveals regulatory networks in neuronal differentiation and DNA methylation

The paper investigates the molecular interactome of HNRNPU, revealing its role in neuronal differentiation and DNA methylation through integration of PPI, RNA targets, and methylation data.

Prematurity and Genetic Liability for Autism Spectrum Disorder

This study examines how genetic liability and preterm birth interact to influence ASD risk and severity, finding that preterm ASD individuals have more severe outcomes and higher de novo variant rates.

Chromatin-associated intronic RNAs from long genes form introsomes that shape nuclear architecture in neuronal cells

The paper identifies trans-contacting intronic RNAs (TIRs) in neuronal cells that form nuclear scaffolds called introsomes, influencing 3D genome organization and gene expression.

European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry

EAGER establishes a registry of autistic individuals and those with rare genetic conditions for genomic and phenotypic research, aiming to improve clinical trials and health outcomes through data sharing.

Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis

This study shows that HNRNPU deficiency causes chromatin remodeling, transcriptional changes, and delayed neurogenesis in hindbrain-derived neural progenitors.

Screening autism-associated environmental factors in differentiating human neural progenitors with fractional factorial design-based transcriptomics

This study uses fractional factorial design to screen environmental factors on neural progenitors, identifying pathway-level changes linked to autism risk.

Infants' attention to eyes is an independent, heritable trait predicting later verbal competence

The paper assesses eye preference in infants and finds it is heritable and predicts later verbal competence.

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder

The paper develops a genome-wide rare variant score linked to morphological subtypes of ASD and finds higher scores in dysmorphic ASD cases.

Circular RNAs arising from synaptic host genes are modulated by SFPQ RNA-binding protein and increased during human neuronal differentiation

The paper identifies circRNAs from synaptic host genes in human neuronal differentiation and shows SFPQ regulates their expression.

Genetic correlates of phenotypic heterogeneity in autism

This study identifies genetic correlates of phenotypic heterogeneity in autism by analyzing common and de novo variants across core features and co-occurring disabilities.

Subtly altered topological asymmetry of brain structural covariance networks in autism spectrum disorder across 43 datasets from the ENIGMA consortium

The paper examines hemispheric asymmetry in structural covariance networks in ASD across 43 datasets, finding altered topological features in specific brain regions.

Rare variants in the outcome of social skills group training for autism

The paper uses exome sequencing to identify genetic variants associated with response to social skills training in autistic individuals, finding that rare variants may reduce intervention effectiveness.

Babytwins Study Sweden (BATSS): A multi-method infant twin study of genetic and environmental factors influencing infant brain and behavioral development

The paper describes the Babytwins Study Sweden (BATSS), a longitudinal twin study combining EEG, eye tracking, genetics, and behavioral assessments to investigate genetic and environmental influences on infant brain and behavioral development.

The influence of common polygenic risk and gene sets on social skills group training response in autism spectrum disorder

Presynaptic dysfunction in CASK-related neurodevelopmental disorders

This study investigates the effects of CASK mutations in human neurons derived from iPSCs, showing reduced CASK protein and altered presynaptic development, with implications for excitatory-inhibitory balance.

Association Between Rare Copy Number Variation and Response to Social Skills Training in Autism Spectrum Disorder

This study investigates whether rare copy number variations (CNVs) moderate response to social skills training in ASD, finding that large CNVs are associated with worse outcomes while small CNVs show mixed effects.

Copy number variation and neurodevelopmental problems in females and males in the general population

This study investigates the association between rare copy number variants (CNVs) and neurodevelopmental problems (NPs) in children, finding sex-specific effects in anxiety/depression.

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders

The paper analyzes copy number variations in 100 twin pairs enriched for neurodevelopmental disorders, finding no postzygotic de novo CNVs but higher rates of CNVs overlapping nervous system genes in discordant pairs.