Publications by authors named "Linlea Armstrong"

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How does personal utility depend on clinical setting? Evidence from 3 cohorts.
Elise Poole, Stephanie Luca, Daniel Assamad, Bowen Xiao, Joyce Yan, Linlea Armstrong

Genet Med Open· October 2025

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Mainstreaming of clinical genetic testing: A conceptual framework.
Michael P Mackley, Julie Richer, Andrea Guerin, Oana Caluseriu, Linlea Armstrong

Genet Med· August 2025

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A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.
Henry Y Lu, Maryam Vaseghi-Shanjani, Avery J Lam, Mehul Sharma, Arezoo Mohajeri, Linlea Armstrong

J Clin Immunol· April 2025

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Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.
Rebecca J Deyell, Yaoqing Shen, Emma Titmuss, Katherine Dixon, Laura M Williamson, Linlea Armstrong

Nat Commun· May 2024

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Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Malavika Hebbar, Nawaf Al-Taweel, Inderpal Gill, Cyrus Boelman, Richard A Dean, Linlea Armstrong

BMC Neurol· January 2024

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Dominant negative variants in cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Arezoo Mohajeri, Maryam Vaseghi-Shanjani, Jill A Rosenfeld, Gui Xiang Yang, Henry Lu, Linlea Armstrong

J Med Genet· November 2023

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Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes.
Robyn Hebert, Noelle Cullinan, Linlea Armstrong, Katherine A Blood, Josee Brossard

J Med Genet· November 2023

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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Linlea Armstrong

Am J Med Genet A· August 2023

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Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Malavika Hebbar, Nawaf Al-Taweel, Inderpal Gill, Cyrus Boelman, Richard A Dean, Linlea Armstrong

Res Sq· August 2023

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Characterization of Switch/Sucrose Nonfermenting Complex Proteins and Nestin Expression in a Cohort of Pediatric Central Nervous System Tumors.
Xiu Qing Wang, Basile Tessier-Cloutier, Jessica Saunders, Melissa Harvey, Linlea Armstrong

Appl Immunohistochem Mol Morphol· May 2023

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The practice of genomic medicine: A delineation of the process and its governing principles.
Julia Handra, Adrienne Elbert, Nour Gazzaz, Ashley Moller-Hansen, Stephanie Hyunh, Linlea Armstrong

Front Med (Lausanne)· January 2023

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Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.
Melissa Cornthwaite, Kelly Turner, Linlea Armstrong, Cornelius F Boerkoel, Caitlin Chang

Prenat Diagn· November 2022

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Primary cutaneous follicle center lymphoma of the medial canthus of the eye in an 11-year old.
Paul R D'Alessandro, Andrea C Lo, Martin H Spencer, Pedro Farinha, Linlea Armstrong

Pediatr Blood Cancer· September 2022

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The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.
Hui-Lin Chin, Nour Gazzaz, Stephanie Huynh, Iulia Handra, Lynn Warnock, Linlea Armstrong

Genet Med· July 2022

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Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Alison M Elliott, Shelin Adam, Christèle du Souich, Anna Lehman, Tanya N Nelson, Linlea Armstrong

HGG Adv· July 2022

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Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes.
Catherine Goudie, Leora Witkowski, Noelle Cullinan, Lara Reichman, Ian Schiller, Linlea Armstrong

JAMA Oncol· December 2021

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Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.
Courtney B Cook, Linlea Armstrong, Cornelius F Boerkoel, Lorne A Clarke, Christèle du Souich

Cold Spring Harb Mol Case Stud· December 2021

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Ulcerated amelanotic melanoma of the ear in an 11 year old with Fitzpatrick VI skin type: A case report.
Matthew Roberts, J Paul Moxham, Allison Gregory, Linlea Armstrong, Jefferson Terry

Pediatr Dermatol· November 2021

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Coaching the coaches: Employing role modeling and coaching as a faculty development strategy.
Ingrid Price, Maria Hubinette, Linlea Armstrong, Heather Buckley

Med Teach· August 2021

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Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Daniel L Polla, Andrew C Edmondson, Sandrine Duvet, Michael E March, Ana Berta Sousa, Linlea Armstrong

Am J Hum Genet· July 2021

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Crizotinib response in a neuroblastoma patient with a constitutional mosaic anaplastic lymphoma kinase I1170N-activating mutation.
Melissa Harvey, Meredith S Irwin, Linlea Armstrong, Kim Seath, Sean Young

Pediatr Blood Cancer· June 2021

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Loss of BRG1 () Immunoexpression in a Pediatric Non-Central Nervous System Tumor Cohort.
Jessica Saunders, Katrina Ingley, Xiu Qing Wang, Melissa Harvey, Linlea Armstrong

Pediatr Dev Pathol· January 2021

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Establishing a Framework for the Clinical Translation of Germline Findings in Precision Oncology.
Katherine Dixon, Sean Young, Yaoqing Shen, My Linh Thibodeau, Alexandra Fok, Linlea Armstrong

JNCI Cancer Spectr· October 2020

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The Orthopaedic Management of Human Disorganization Syndrome.
Kevin Smit, Judy So, Emily Schaeffer, Linlea Armstrong, Cindy Verchere

J Am Acad Orthop Surg Glob Res Rev· June 2020

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D Hicks, Linlea Armstrong, Katherine Armstrong Bosanko

Hum Mutat· January 2020

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