| 38049555 | Characterisation of FLT3 alterations in childhood acute lymphoblastic leukaemia. | Br J Cancer | 2024 |
| 37995913 | Comprehensive Genomic Analysis of Cemento-Ossifying Fibroma. | Mod Pathol | 2024 |
| 36384252 | Clinical response to dabrafenib and chemotherapy in clonally-related histiocytosis and acute lymphoblastic leukemia. | Haematologica | 2023 |
| 37648381 | Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis. | BMJ Open | 2023 |
| 37419244 | Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors. | J Mol Diagn | 2023 |
| 37114246 | Germline Platelet-derived growth factor receptor beta p.R987W pathogenic variant in 2 children with brain tumors. | Neurooncol Adv | 2023 |
| 36714130 | The practice of genomic medicine: A delineation of the process and its governing principles. | Front Med (Lausanne) | 2023 |
| 36690923 | Prenatal screening and diagnosis of sex chromosome conditions: The new normal? | Prenat Diagn | 2023 |
| 36504324 | Evaluation of out-of-pocket pay genetic testing in a publicly funded healthcare system. | Clin Genet | 2023 |
| 36369700 | Validation of case definition algorithms for the ascertainment of congenital anomalies. | Birth Defects Res | 2023 |
| 34544840 | Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists. | J Med Genet | 2022 |
| 35820622 | Improving 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 Diagn | 2022 |
| 36068917 | Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines. | Prenat Diagn | 2022 |
| 35149971 | Implementation of the BC Congenital Anomalies Surveillance System (BCCASS). | Can J Public Health | 2022 |
| 34933343 | Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001. | Blood Adv | 2022 |
| 32980861 | Correspondence on "The prevalence of genetic diagnoses in fetuses with severe congenital heart defects" by Nisselrooij et al. | Genet Med | 2021 |
| 33829520 | Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered. | Prenat Diagn | 2021 |
| 33755350 | Non-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 Med | 2021 |
| 34761647 | Effect of preexamination conditions in a centralized-testing model of non-invasive prenatal screening. | Clin Chem Lab Med | 2021 |
| 34080181 | Out-of-pocket and private pay in clinical genetic testing: A scoping review. | Clin Genet | 2021 |
| 33337554 | Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys. | Prenat Diagn | 2021 |
| 33212246 | Guideline No. 410: Prevention, Screening, Diagnosis, and Pregnancy Management for Fetal Neural Tube Defects. | J Obstet Gynaecol Can | 2021 |
| 33212245 | Directive clinique n<sup>o</sup> 410 : Anomalies du tube neural : Prévention, dépistage, diagnostic et prise en charge de la grossesse. | J Obstet Gynaecol Can | 2021 |
| 32830099 | Committee Opinion No. 406: Prenatal Testing After IVF With Preimplantation Genetic Testing for Aneuploidy. | J Obstet Gynaecol Can | 2020 |
| 31814082 | A Hierarchical Bayes Approach to Modeling Heterogeneity in Discrete Choice Experiments: An Application to Public Preferences for Prenatal Screening. | Patient | 2020 |
| 31771449 | Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated With <i>STAT3</i> Mutation. | Pediatr Dev Pathol | 2020 |
| 33189244 | Opinion de comité n<sup>o</sup> 406 : Dépistage prénatal après FIV avec test génétique préimplantatoire des aneuploïdies. | J Obstet Gynaecol Can | 2020 |
| 30670789 | A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8. | J Hum Genet | 2019 |
| 31231136 | Prospective 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 Genet | 2019 |
| 31596249 | An Analytical Mobile App for Shared Decision Making About Prenatal Screening: Protocol for a Mixed Methods Study. | JMIR Res Protoc | 2019 |
| 30712332 | Canadian genetic healthcare professionals' attitudes towards discussing private pay options with patients. | Mol Genet Genomic Med | 2019 |
| 31026031 | Molecular Profiling of Hard-to-Treat Childhood and Adolescent Cancers. | JAMA Netw Open | 2019 |
| 30270016 | Attitudes toward prenatal screening for chromosomal abnormalities: A focus group study. | Women Birth | 2019 |
| 30575814 | Recurrent somatic BRAF insertion (p.V504_R506dup): a tumor marker and a potential therapeutic target in pilocytic astrocytoma. | Oncogene | 2019 |
| 28784564 | Cell-Free DNA-Based Non-invasive Prenatal Screening for Common Aneuploidies in a Canadian Province: A Cost-Effectiveness Analysis. | J Obstet Gynaecol Can | 2018 |
| 29958880 | Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score values. | Clin Biochem | 2018 |
| 30503519 | DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. | Am J Hum Genet | 2018 |
| 28069604 | KMT2E-ASNS: a novel relapse-specific fusion gene in early T-cell precursor acute lymphoblastic leukemia. | Blood | 2017 |
| 29080223 | Comparison of first-tier cell-free DNA screening for common aneuploidies with conventional publically funded screening. | Prenat Diagn | 2017 |
| 29125628 | Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women. | Cochrane Database Syst Rev | 2017 |
| 29220674 | ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder. | Am J Hum Genet | 2017 |
| 29217025 | Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation. | Can J Ophthalmol | 2017 |
| 28859781 | No. 261-Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies. | J Obstet Gynaecol Can | 2017 |
| 28859780 | 261-Dépistage prénatal de l'aneuploïdie fſtale en ce qui concerne les grossesses monofſtales. | J Obstet Gynaecol Can | 2017 |
| 28539120 | Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability. | BMC Genomics | 2017 |
| 26893576 | Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues. | Appl Clin Genet | 2016 |
| 26486474 | De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. | Eur J Hum Genet | 2016 |
| 26525746 | Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus? | Prenat Diagn | 2016 |
| 26577044 | Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals. | Eur J Hum Genet | 2016 |
| 27602765 | Genomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals novel recurrent driver mutations. | Oncotarget | 2016 |