Author details

Full Name

Tomi Pastinen

Affiliation

ORCID

Career Start Year

1996

Papers

188

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37097753	IRF7 and UNC93B1 variants in an infant with recurrent herpes simplex virus infection.		2023
35690684	The post-diagnostics world: charting a path for pediatric genomic medicine in the twenty-first century.	Pediatric Research	2023
36379543	X-linked variations in <i>SHROOM4</i> are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.	J Med Genet	2023
37601282	Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome oxidase deficiency: a case report.		2023
37577719	EpiVar Browser: advanced exploration of epigenomics data under controlled access.	bioRxiv	2023
37548286	Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.		2023
37034625	Rare variants in cause delayed development, intellectual disability, autism, and epilepsy.		2023
36718845	Insurance denials and diagnostic rates in a pediatric genomic research cohort.		2023
37284702	A Recurrent <i>De Novo</i> Variant in <i>EIF2AK2</i> Causes a Hypomyelinating Leukodystrophy.	Child Neurol Open	2023
37467750	Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.	Am J Hum Genet	2023
36824744	Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing.		2023
37077564	Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.		2023
37202439	The cellular and immunological dynamics of early and transitional human milk.		2023
37194653	Committing to genomic answers for all kids: Evaluating inequity in genomic research enrollment.	Genet Med	2023
37443037	Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.		2023
37432267	Adverse Maternal Environments Perturb Hepatic DNA Methylome and Transcriptome Prior to the Adult-Onset Non-Alcoholic Fatty Liver Disease in Mouse Offspring.		2023
37228757	Transposable elements are associated with the variable response to influenza infection.	Cell Genom	2023
37228750	Genome graphs detect human polymorphisms in active epigenomic state during influenza infection.	Cell Genom	2023
37043503	Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.	Brain	2023
37425777	A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locus.	bioRxiv	2023
36669496	Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.	Am J Hum Genet	2023
37487180	Comparing Attitudes About Genomic Privacy and Data Sharing in Adolescents and Parents of Children Enrolled in a Genomic Research Repository.		2023
35305867	Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.	Genet Med	2022
35585611	Differentially methylated CpGs in response to growth hormone administration in children with idiopathic short stature.	Clin Epigenetics	2022
35440018	Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>.	Clin Epigenetics	2022
36146555	Effects of Prior Infection with SARS-CoV-2 on B Cell Receptor Repertoire Response during Vaccination.	Vaccines	2022
36259078	The Role of Dynamic DNA Methylation in Liver Transplant Rejection in Children.	Transplantation Direct	2022
35534523	Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients.	Scientific Reports	2022
35288711	Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases.	Nat Genet	2022
35169303	HLA-B07:02 and HLA-C07:02 are associated with trimethoprim-sulfamethoxazole respiratory failure.	Pharmacogenomics J	2022
34551091	The Impact of Prior Infection and Age on Antibody Persistence After Severe Acute Respiratory Syndrome Coronavirus 2 Messenger RNA Vaccine.	Clin Infect Dis	2022
34573331	Thousands of CpGs Show DNA Methylation Differences in ACPA-Positive Individuals.	Genes	2021
32438470	A novel statistical method for modeling covariate effects in bisulfite sequencing derived measures of DNA methylation.	Biometrics	2021
34257423	Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care.	Genetics in Medicine	2021
33602921	Non-CG methylation and multiple histone profiles associate child abuse with immune and small GTPase dysregulation.	Nat Commun	2021
33758880	High-resolution epigenome analysis in nasal samples derived from children with respiratory viral infections reveals striking changes upon SARS-CoV-2 infection.	medRxiv	2021
34354210	Immune cell residency in the nasal mucosa may partially explain respiratory disease severity across the age range.	Sci Rep	2021
33863903	Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease.	Nat Commun	2021
33755375	Antibody Responses after a Single Dose of SARS-CoV-2 mRNA Vaccine.	N Engl J Med	2021
33386334	Rare Genetic Variants in Immune Genes and Neonatal Herpes Simplex Viral Infections.	Pediatrics	2021
33168820	Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells.	Sci Data	2020
32312674	Asthma-associated polymorphisms in 17q12-21 locus modulate methylation and gene expression of GSDMA in naÃ¯ve CD4 T cells.	Journal of Genetics and Genomics	2020
32066997	Single-cell analysis of human adipose tissue identifies depot and disease specific cell types.	Nat Metab	2020
32450900	Personalized and graph genomes reveal missing signal in epigenomic data.	Genome Biol	2020
33317634	High-resolution analyses of human sperm dynamic methylome reveal thousands of novel age-related epigenetic alterations.	Clin Epigenetics	2020
33260893	Eosinophil microRNAs Play a Regulatory Role in Allergic Diseases Included in the Atopic March.	International Journal of Molecular Sciences	2020
33240528	Communicating science: epigenetics in the spotlight.	Environ Epigenet	2020
31393794	Customized MethylC-Capture Sequencing to Evaluate Variation in the Human Sperm DNA Methylome Representative of Altered Folate Metabolism.	Environ Health Perspect	2019
30168593	A hidden markov model for identifying differentially methylated sites in bisulfite sequencing data.	Biometrics	2019
30206357	Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits.	Eur J Hum Genet	2019