The post-diagnostics world: charting a path for pediatric genomic medicine in the twenty-first century

por Bonkowsky, Joshua L., Pastinen, Tomi, White, Peter
Publicado 2022

A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy

por Macintosh, Julia, Thiffault, Isabelle, Pastinen, Tomi, Sztriha, László, Bernard, Geneviève
Publicado 2023

Human genetics in full resolution

por Schiavi, Alicia, Light, Nicholas, Adoue, Veronique, Busche, Stephan, Pastinen, Tomi
Publicado 2011

Personalized and graph genomes reveal missing signal in epigenomic data

por Groza, Cristian, Kwan, Tony, Soranzo, Nicole, Pastinen, Tomi, Bourque, Guillaume
Publicado 2020

Combining omics data to identify genes associated with allergic rhinitis

por Morin, Andréanne, Laviolette, Michel, Pastinen, Tomi, Boulet, Louis-Philippe, Laprise, Catherine
Publicado 2017

A low-cost open-source SNP genotyping platform for association mapping applications

por Macdonald, Stuart J, Pastinen, Tomi, Genissel, Anne, Cornforth, Theodore W, Long, Anthony D
Publicado 2005

The relationship between DNA methylation, genetic and expression inter-individual variation in untransformed human fibroblasts

por Wagner, James R, Busche, Stephan, Ge, Bing, Kwan, Tony, Pastinen, Tomi, Blanchette, Mathieu
Publicado 2014

Risk of re-identification of epigenetic methylation data: a more nuanced response is needed

por Joly, Yann, Dyke, Stephanie OM, Cheung, Warren A, Rothstein, Mark A, Pastinen, Tomi
Publicado 2015

Evolving data access policy: The Canadian context

por Dyke, Stephanie O.M., Saulnier, Katie M., Pastinen, Tomi, Bourque, Guillaume, Joly, Yann
Publicado 2016

Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report

por Chapleau, Alexandra, Boucher, Renée-Myriam, Pastinen, Tomi, Thiffault, Isabelle, Gould, Peter V., Bernard, Geneviève
Publicado 2023

Computational Analysis of Whole-Genome Differential Allelic Expression Data in Human

por Wagner, James R., Ge, Bing, Pokholok, Dmitry, Gunderson, Kevin L., Pastinen, Tomi, Blanchette, Mathieu
Publicado 2010

Phosphodiesterase Type 4D Gene Polymorphism: Association with the Response to Short-Acting Bronchodilators in Paediatric Asthma Patients

por Labuda, Malgorzata, Laberge, Sophie, Brière, Julie, Bérubé, Denis, Beaulieu, Patrick, Pastinen, Tomi, Krajinovic, Maja
Publicado 2011

Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome

por Cotton, Allison M, Ge, Bing, Light, Nicholas, Adoue, Veronique, Pastinen, Tomi, Brown, Carolyn J
Publicado 2013

Optimizing ChIP-seq peak detectors using visual labels and supervised machine learning

por Hocking, Toby Dylan, Goerner-Potvin, Patricia, Morin, Andreanne, Shao, Xiaojian, Pastinen, Tomi, Bourque, Guillaume
Publicado 2017

Accuracy of Programs for the Determination of Human Leukocyte Antigen Alleles from Next-Generation Sequencing Data

por Larjo, Antti, Eveleigh, Robert, Kilpeläinen, Elina, Kwan, Tony, Pastinen, Tomi, Koskela, Satu, Partanen, Jukka
Publicado 2017

High-resolution analyses of human sperm dynamic methylome reveal thousands of novel age-related epigenetic alterations

por Cao, Mingju, Shao, Xiaojian, Chan, Peter, Cheung, Warren, Kwan, Tony, Pastinen, Tomi, Robaire, Bernard
Publicado 2020

High-resolution epigenome analysis in nasal samples derived from children with respiratory viral infections reveals striking changes upon SARS-CoV-2 infection

por Winkley, Konner, Koseva, Boryana, Banerjee, Dithi, Cheung, Warren, Selvarangan, Rangaraj, Pastinen, Tomi, Grundberg, Elin
Publicado 2021

Adverse Maternal Environments Perturb Hepatic DNA Methylome and Transcriptome Prior to the Adult-Onset Non-Alcoholic Fatty Liver Disease in Mouse Offspring

por Fu, Qi, Cheung, Warren A., Majnik, Amber V., Ke, Xingrao, Pastinen, Tomi, Lane, Robert H.
Publicado 2023

Global identification of conserved post-transcriptional regulatory programs in trypanosomatids

por Najafabadi, Hamed S., Lu, Zhiquan, MacPherson, Chad, Mehta, Vaibhav, Adoue, Véronique, Pastinen, Tomi, Salavati, Reza
Publicado 2013

Global miRNA expression and correlation with mRNA levels in primary human bone cells

por Laxman, Navya, Rubin, Carl-Johan, Mallmin, Hans, Nilsson, Olle, Pastinen, Tomi, Grundberg, Elin, Kindmark, Andreas
Publicado 2015