Author details

Full Name

Laura E MacConaill

Affiliation

ORCID

Career Start Year

2003

Papers

100

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37558578	Erratum to "Aligning tumor mutational burden (TMB) quantification across diagnostic platforms: phase II of the Friends of Cancer Research TMB Harmonization Project": [Annals of Oncology 32 (2021) 1626-1636].	Ann Oncol	2024
36688401	Deep-penetrating-nevus-like melanoma arising in patients with familial adenomatous polyposis syndrome.		2023
36634297	Programmatic Precision Oncology Decision Support for Patients With Gastrointestinal Cancer.	JCO Precis Oncol	2023
36996377	Clinical Targeted Next-Generation Panel Sequencing Reveals <i>MYC</i> Amplification Is a Poor Prognostic Factor in Osteosarcoma.	JCO Precis Oncol	2023
35363308	Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program.	Clin Cancer Res	2022
36179682	Ancestry-driven recalibration of tumor mutational burden and disparate clinical outcomes in response to immune checkpoint inhibitors.	Cancer Cell	2022
36085356	Primary cutaneous SMARCA4-deficient undifferentiated malignant neoplasm: first two cases with clinicopathologic and molecular comparison to eight visceral counterparts.	Modern Pathology	2022
35739269	Molecular profiling identifies targeted therapy opportunities in pediatric solid cancer.	Nat Med	2022
36202909	MatchMiner: an open-source platform for cancer precision medicine.	NPJ Precis Oncol	2022
34820595	Germline Testing Data Validate Inferences of Mutational Status for Variants Detected From Tumor-Only Sequencing.	JCO Precis Oncol	2021
34074652	Twists and turns from "tumor in tumor" profiling: surveillance of chronic lymphocytic leukemia (CLL) leads to detection of a lung adenocarcinoma, whose genomic characterization alters the original hematologic diagnosis.	Cold Spring Harb Mol Case Stud	2021
33293374	Genomic Characterization of <i>de novo</i> Metastatic Breast Cancer.	Clin Cancer Res	2021
32796174	Hedgehog Pathway Alterations Downstream of Patched-1 Are Common in Infundibulocystic Basal Cell Carcinoma.	American Journal of Dermatopathology	2021
33414136	Molecular Characterization and Therapeutic Targeting of Colorectal Cancers Harboring Receptor Tyrosine Kinase Fusions.	Clin Cancer Res	2021
34606929	Aligning tumor mutational burden (TMB) quantification across diagnostic platforms: phase II of the Friends of Cancer Research TMB Harmonization Project.	Ann Oncol	2021
32773531	Molecular Characterization of Neuroendocrine Carcinomas of the Endometrium: Representation in All 4 TCGA Groups.	American Journal of Surgical Pathology	2020
32188490	Clinical and molecular characterization of virus-positive and virus-negative Merkel cell carcinoma.	Genome Medicine	2020
32068070	ViroPanel: Hybrid Capture and Massively Parallel Sequencing for Simultaneous Detection and Profiling of Oncogenic Virus Infection and Tumor Genome.	Journal of Molecular Diagnostics	2020
30954880	Chromosome 3q arm gain linked to immunotherapy response in advanced cutaneous squamous cell carcinoma.	Eur J Cancer	2019
32923853	Identifying <i>ERBB2</i> Activating Mutations in HER2-Negative Breast Cancer: Clinical Impact of Institute-Wide Genomic Testing and Enrollment in Matched Therapy Trials.	JCO Precis Oncol	2019
30559381	Addendum: The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity.	Nature	2019
30553611	Compound Genomic Alterations of TP53, PTEN, and RB1 Tumor Suppressors in Localized and Metastatic Prostate Cancer.	Eur Urol	2019
30134342	Targeted Genomic Profiling of Female Adnexal Tumors of Probable Wolffian Origin (FATWO).	International Journal of Gynecological Pathology	2019
31028081	Targeted Cancer Next-Generation Sequencing as a Primary Screening Tool for Microsatellite Instability and Lynch Syndrome in Upper Gastrointestinal Tract Cancers.	Cancer Epidemiol Biomarkers Prev	2019
29467336	Frameshift events predict anti-PD-1/L1 response in head and neck cancer.	JCI Insight	2018
28984674	Targeted Genomic Profiling Reveals Recurrent KRAS Mutations in Mesonephric-like Adenocarcinomas of the Female Genital Tract.	American Journal of Surgical Pathology	2018
30068733	Endometrial cancer with an rearrangement.	Cold Spring Harbor molecular case studies	2018
29955144	Validation of a targeted next-generation sequencing approach to detect mismatch repair deficiency in colorectal adenocarcinoma.	Mod Pathol	2018
30185662	Improved outcomes in PI3K-pathway-altered metastatic HPV oropharyngeal cancer.	JCI Insight	2018
29310587	Unique, dual-indexed sequencing adapters with UMIs effectively eliminate index cross-talk and significantly improve sensitivity of massively parallel sequencing.	BMC Genomics	2018
29700418	SMARCA4-deficient undifferentiated uterine sarcoma (malignant rhabdoid tumor of the uterus): a clinicopathologic entity distinct from undifferentiated carcinoma.	Modern Pathology	2018
28114446	Comparison of Prevalence and Types of Mutations in Lung Cancers Among Black and White Populations.	JAMA Oncol	2017
28557599	Validation of OncoPanel: A Targeted Next-Generation Sequencing Assay for the Detection of Somatic Variants in Cancer.		2017
28486603	Clinical Identification of Oncogenic Drivers and Copy-Number Alterations in Pituitary Tumors.	Endocrinology	2017
29156750	Somatic mutations in <i>CDH1</i> and <i>CTNNB1</i> in primary carcinomas at 13 anatomic sites.	Oncotarget	2017
27707790	Landscape of Genomic Alterations in Pituitary Adenomas.	Clin Cancer Res	2017
27834349	Differentiated exophytic vulvar intraepithelial lesions are genetically distinct from keratinizing squamous cell carcinomas and contain mutations in PIK3CA.	Modern Pathology	2017
28104717	Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors.	Neuro Oncol	2017
27882345	Institutional implementation of clinical tumor profiling on an unselected cancer population.	JCI Insight	2016
27150160	Morphologic correlates of molecular alterations in extrauterine MÃ¼llerian carcinomas.	Modern Pathology	2016
26829311	KRAS and NKX2-1 Mutations in Invasive Mucinous Adenocarcinoma of the Lung.	J Thorac Oncol	2016
26822149	Multicenter Feasibility Study of Tumor Molecular Profiling to Inform Therapeutic Decisions in Advanced Pediatric Solid Tumors: The Individualized Cancer Therapy (iCat) Study.	JAMA Oncol	2016
27460824	The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.	Genome Med	2016
26684027	Loss of E-cadherin disrupts ovarian epithelial inclusion cyst formation and collective cell movement in ovarian cancer cells.	Oncotarget	2016
25231023	Targeted genomic analysis of MÃ¼llerian adenosarcoma.	Journal of Pathology	2015
25626421	Genomic aberrations in cervical adenocarcinomas in Hong Kong Chinese women.	Int J Cancer	2015
25899310	MAP2K1 and MAP3K1 mutations in Langerhans cell histiocytosis.	Genes Chromosomes and Cancer	2015
25428359	BreaKmer: detection of structural variation in targeted massively parallel sequencing data using kmers.	Nucleic Acids Res	2015
26181886	Brave-ish New World--What's Needed to Make Precision Oncology a Practical Reality.	JAMA Oncology	2015
26336887	Targeted genomic profiling reveals recurrent KRAS mutations and gain of chromosome 1q in mesonephric carcinomas of the female genital tract.	Modern Pathology	2015