Michael J. Szego
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View article: New Developments and Old Dilemmas in Ontario’s Resuscitation Policy at the End of Life
New Developments and Old Dilemmas in Ontario’s Resuscitation Policy at the End of Life Open
This paper deals with changes in code status policy in Ontario and endorses a new College of Physicians and Surgeons of Ontario (CPSO) policy. We argue that the recent policy changes in this area necessitate an active educational strategy …
View article: P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development
P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development Open
Rare genetic diseases are collectively common. These diseases are major contributors to pediatric morbidity and mortality, but few have specialized or targeted treatments. Proof-of-concept exists for precision genetic therapies like antise…
View article: Intellectuals and Culture: Contributions to the Development of the Jewish Elite in the Central European Context
Intellectuals and Culture: Contributions to the Development of the Jewish Elite in the Central European Context Open
This narrative unfolds a captivating historical tapestry of the Jewish elite in Arad, Romania, spanning various domains of influence. Focused on individuals like Aron Chorin, Ármin Éles, Ármin Wallfisch, József Stauber, József Károly, Sánd…
View article: Genomic architecture of autism from comprehensive whole-genome sequence annotation
Genomic architecture of autism from comprehensive whole-genome sequence annotation Open
View article: Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotation
Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotation Open
Fully understanding the genetic factors involved in Autism Spectrum Disorder (ASD) requires whole-genome sequencing (WGS), which theoretically allows the detection of all types of genetic variants. With the aim of generating an unprecedent…
View article: Corrigendum: Parental Access to Children's Raw Genomic Data in Canada: Legal Rights and Professional Responsibility
Corrigendum: Parental Access to Children's Raw Genomic Data in Canada: Legal Rights and Professional Responsibility Open
[This corrects the article DOI: 10.3389/fgene.2021.535340.].
View article: Parental Access to Children's Raw Genomic Data in Canada: Legal Rights and Professional Responsibility
Parental Access to Children's Raw Genomic Data in Canada: Legal Rights and Professional Responsibility Open
Children with rare and common diseases now undergo whole genome sequencing (WGS) in clinical and research contexts. Parents sometimes request access to their child's raw genomic data, to pursue their own analyses or for onward sharing with…
View article: Author Correction: Please give me a copy of my child’s raw genomic data
Author Correction: Please give me a copy of my child’s raw genomic data Open
A Correction to this paper has been published: https://doi.org/10.1038/s41525-021-00191-y
View article: Please give me a copy of my child’s raw genomic data
Please give me a copy of my child’s raw genomic data Open
In this work, we explore whether raw genetic data generated during sequencing ought to be returned to a pediatric patient and/or their parents/guardians. We identify the principles used by various professional societies in their guidelines…
View article: Impact of DNA source on genetic variant detection from human whole-genome sequencing data
Impact of DNA source on genetic variant detection from human whole-genome sequencing data Open
Background Whole blood is currently the most common DNA source for whole-genome sequencing (WGS), but for studies requiring non-invasive collection, self-collection, greater sample stability or additional tissue references, saliva or bucca…
View article: Control iPSC lines with clinically annotated genetic variants for versatile multi-lineage differentiation
Control iPSC lines with clinically annotated genetic variants for versatile multi-lineage differentiation Open
Summary Induced Pluripotent Stem Cells (iPSC) derived from healthy individuals are important controls for disease modeling studies. To create a resource of genetically annotated iPSCs, we reprogrammed footprint-free lines from four volunte…
View article: Newborn screening by whole genome sequencing? Not quite yet.
Newborn screening by whole genome sequencing? Not quite yet. Open
Advances in sequencing technology and informatics have made it possible to elucidate the genomes of individuals 1,2 .With falling sequencing costs, and improving accuracy and speed of the technology, application of whole genome sequencing …
View article: The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants Open
Our analyses identified a spectrum of genetic variants with potential health impact in 25% of participants. When also considering recessive alleles and variants with potential pharmacologic relevance, all 56 participants had medically rele…
View article: Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test Open
View article: Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder Open
View article: Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine Open
View article: Whole Genome Sequencing as a Genetic Test for Autism Spectrum Disorder: From Bench to Bedside and then Back Again.
Whole Genome Sequencing as a Genetic Test for Autism Spectrum Disorder: From Bench to Bedside and then Back Again. Open
Autism spectrum disorder (ASD) is characterized by repetitive patterns of behaviour and impairments in social interactions and communication abilities. Although ASD is a heterogeneous disorder, it is a highly genetic condition for which ge…
View article: Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome Open