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Author Details

Sylvie Langlois
Research Center, Centre Hospitalier Universitaire Sainte-Justine
1987
165
40
Vardit Ravitsky (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
38049555Characterisation of FLT3 alterations in childhood acute lymphoblastic leukaemia.Br J Cancer2024
37995913Comprehensive Genomic Analysis of Cemento-Ossifying Fibroma.Mod Pathol2024
36384252Clinical response to dabrafenib and chemotherapy in clonally-related histiocytosis and acute lymphoblastic leukemia.Haematologica2023
37648381Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis.BMJ Open2023
37419244Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors.J Mol Diagn2023
37114246Germline Platelet-derived growth factor receptor beta p.R987W pathogenic variant in 2 children with brain tumors.Neurooncol Adv2023
36714130The practice of genomic medicine: A delineation of the process and its governing principles.Front Med (Lausanne)2023
36690923Prenatal screening and diagnosis of sex chromosome conditions: The new normal?Prenat Diagn2023
36504324Evaluation of out-of-pocket pay genetic testing in a publicly funded healthcare system.Clin Genet2023
36369700Validation of case definition algorithms for the ascertainment of congenital anomalies.Birth Defects Res2023
34544840Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.J Med Genet2022
35820622Improving Fetal Fraction of Noninvasive Prenatal Screening Samples Collected in EDTA-Gel Tubes Using Gel Size Selection: A Head-To-Head Comparison of Methods.J Mol Diagn2022
36068917Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.Prenat Diagn2022
35149971Implementation of the BC Congenital Anomalies Surveillance System (BCCASS).Can J Public Health2022
34933343Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.Blood Adv2022
32980861Correspondence on "The prevalence of genetic diagnoses in fetuses with severe congenital heart defects" by Nisselrooij et al.Genet Med2021
33829520Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered.Prenat Diagn2021
33755350Non-invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta-analysis of diagnostic test accuracy studies.Mol Genet Genomic Med2021
34761647Effect of preexamination conditions in a centralized-testing model of non-invasive prenatal screening.Clin Chem Lab Med2021
34080181Out-of-pocket and private pay in clinical genetic testing: A scoping review.Clin Genet2021
33337554Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys.Prenat Diagn2021
33212246Guideline No. 410: Prevention, Screening, Diagnosis, and Pregnancy Management for Fetal Neural Tube Defects.J Obstet Gynaecol Can2021
33212245Directive clinique n<sup>o</sup> 410 : Anomalies du tube neural : Prévention, dépistage, diagnostic et prise en charge de la grossesse.J Obstet Gynaecol Can2021
32830099Committee Opinion No. 406: Prenatal Testing After IVF With Preimplantation Genetic Testing for Aneuploidy.J Obstet Gynaecol Can2020
31814082A Hierarchical Bayes Approach to Modeling Heterogeneity in Discrete Choice Experiments: An Application to Public Preferences for Prenatal Screening.Patient2020
31771449Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated With <i>STAT3</i> Mutation.Pediatr Dev Pathol2020
33189244Opinion de comité n<sup>o</sup> 406 : Dépistage prénatal après FIV avec test génétique préimplantatoire des aneuploïdies.J Obstet Gynaecol Can2020
30670789A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.J Hum Genet2019
31231136Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study.Eur J Hum Genet2019
31596249An Analytical Mobile App for Shared Decision Making About Prenatal Screening: Protocol for a Mixed Methods Study.JMIR Res Protoc2019
30712332Canadian genetic healthcare professionals' attitudes towards discussing private pay options with patients.Mol Genet Genomic Med2019
31026031Molecular Profiling of Hard-to-Treat Childhood and Adolescent Cancers.JAMA Netw Open2019
30270016Attitudes toward prenatal screening for chromosomal abnormalities: A focus group study.Women Birth2019
30575814Recurrent somatic BRAF insertion (p.V504_R506dup): a tumor marker and a potential therapeutic target in pilocytic astrocytoma.Oncogene2019
28784564Cell-Free DNA-Based Non-invasive Prenatal Screening for Common Aneuploidies in a Canadian Province: A Cost-Effectiveness Analysis.J Obstet Gynaecol Can2018
29958880Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score values.Clin Biochem2018
30503519DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.Am J Hum Genet2018
28069604KMT2E-ASNS: a novel relapse-specific fusion gene in early T-cell precursor acute lymphoblastic leukemia.Blood2017
29080223Comparison of first-tier cell-free DNA screening for common aneuploidies with conventional publically funded screening.Prenat Diagn2017
29125628Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.Cochrane Database Syst Rev2017
29220674ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.Am J Hum Genet2017
29217025Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation.Can J Ophthalmol2017
28859781No. 261-Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies.J Obstet Gynaecol Can2017
28859780261-Dépistage prénatal de l'aneuploïdie fſtale en ce qui concerne les grossesses monofſtales.J Obstet Gynaecol Can2017
28539120Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.BMC Genomics2017
26893576Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues.Appl Clin Genet2016
26486474De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.Eur J Hum Genet2016
26525746Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?Prenat Diagn2016
26577044Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals.Eur J Hum Genet2016
27602765Genomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals novel recurrent driver mutations.Oncotarget2016
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Collaborators

Sainte-Justine University Hospital Research Center
Co-authored papers 13
Universite Laval
Co-authored papers 13
University of British Columbia
Co-authored papers 11
University of Montreal
Co-authored papers 9
Co-authored papers 9
Center for Cardiovascular Innovation, University of British Columbia
Co-authored papers 6
University of British Columbia
Co-authored papers 6
CHU Sainte-Justine Research Center
Co-authored papers 6
McGill University, Canada Montreal Neurological Institute and Hospital
Co-authored papers 5
University of British Columbia
Co-authored papers 5
Co-authored papers 5
Laval University
Co-authored papers 5
Universite de Montreal
Co-authored papers 4
University of Florida, College of Medicine-Jacksonville
Co-authored papers 4
McGill University Health Centre (MUHC), Montreal Children's Hospital (MCH)
Co-authored papers 4
Seattle Children's Research Institute
Co-authored papers 4
CHU Sainte-Justine Research Center
Co-authored papers 4
UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust
Co-authored papers 3
Research Center of the CHU de Quebec-Universite Laval, Universite Laval
Co-authored papers 3
Co-authored papers 3
University of British Columbia
Co-authored papers 3
The Hastings Center
Co-authored papers 3
Charles-Bruneau Cancer Center, Centre Hospitalier Universitaire (CHU) Sainte-Justine
Co-authored papers 2
Canada British Columbia Cancer Research Centre, University of British Columbia
Co-authored papers 2
Universite Laval
Co-authored papers 2
Universite Laval
Co-authored papers 2
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Centre Hospitalier Universitaire Sainte-Justine
Co-authored papers 2
Co-authored papers 2
McGill University and Genome Quebec Innovation Centre
Co-authored papers 2