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Works from 2024

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Building towards clinical translation: New study refines genetic architecture of IgA nephropathy, Andrew O. Kearney, Edgar Lerma, and Jennie Lin (Editorial)

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Exploring the impact of microaggressions on the genetic counseling student-supervisor relationship: A qualitative study, Kyra Ramsey, Nikkola Carmichael, Melissa Gutierrez-Kapheim, et al. (Article)

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Exploring the occurrence of microaggressions in the genetic counseling student-supervisor relationship: A mixed-methods study, Kyra Ramsey, Nikkola Carmichael, Melissa Gutierrez-Kapheim, et al. (Article)

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Genetics and prevention, Jodi Leigh Brehm and Deborah Wham (Book Chapter)

Works from 2022

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Advocating for equitable management of hereditary cancer syndromes, Rikki Gaber Caffrey (Article)

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Cardiac Surgery as a Predictor of Cell Mediated Immunity in Patients With 22q11.2 Deletion Syndrome, Teju Dittakavi, Javeed Akhter, and Elizabeth Villafuerte (Abstract)

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Correction to: Pain experience in pancreatitis: Strong association of genetic risk loci for anxiety and PTSD in patients With severe, constant, and constant-severe pain, Ellyn K. Dunbar, Phil J. Greer, Stephen T. Amann, et al. (Article)

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Medications and Gene Interactions in Patients with Delirium, David I. Ronin, Mary Schmidt, Amber Barabas, Noreen Kelly, Monika Kopinos, Kathryn Waitzman, Lech Mazur, Michael Mihalov, and Susan Lis (Abstract)

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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein, Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen, et al. (Article)

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Modes of assay interference and the effectiveness of serum pretreatment approaches in detection of anti-HLA antibodies, Joseph Abraha, Ping Rao, and Gerald P. Morris (Article)

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Offering preimplantation genetic testing for monogenic disorders (PGT-M) for conditions with reduced penetrance or variants of uncertain significance: Ethical insight from U.S. laboratory genetic counselors, Anthony Porto, Rikki Gaber Caffrey, Megan Crowley-Matoka, et al. (Article)

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YAP1 activation by human papillomavirus E7 promotes basal cell identity in squamous epithelia, Joshua Hatterschide, Paola Castagnino, Hee Won Kim, et al. (Article)

Works from 2020

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Can Implementation of Genetics and Pharmacogenomics Improve Treatment of Chronic Low Back Pain?, Vladislav Suntsov, Filip Jovanovic, Emilija Knezevic, et al. (Article)

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Commentary: moving beyond phenotypic diagnosis, William E Stansfield (Article)

Comprehensive genomic profiling of 30,000 consecutive solid tumors, Michael Thompson (Article)

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Does supply equal demand? The workforce of direct patient care genetic counselors in Wisconsin, Carlee Dawson, Erin Syverson, Thomas H Chelius, et al. (Article)

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Evaluation and classification of severity for 176 genes on an expanded carrier screening panel, Aishwarya Arjunan, Holly Bellerose, Raul Torres, et al. (Article)

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Genetic testing in the evaluation of thoracic aortic aneurysms: A single-center experience, Xiaoxiao Qian, Viviana Zlochiver, Muhammad Fuad Jan, et al. (Abstract)

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Increased fetal chromosome detection with the use of operative hysteroscopy during evacuation of products of conception for diagnosed miscarriage, Aarathi Cholkeri-Singh, Ina Zamfirova, and Charles E Miller (Article)

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KANK1-NTRK3 fusions define a subset of BRAF mutation negative renal metanephric adenomas, Aida Catic, Amina Kurtovic-Kozaric, Ardis Sophian, et al. (Article)

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Legacy genetic testing results for cancer susceptibility: how common are conflicting classifications in a large variant dataset from multiple practices?, Kanhua Yin, Yuxi Liu, Basanta Lamichhane, et al. (Article)

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Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD, Jorge Luis Granadillo, Alexander P A Stegmann, Hui Guo, et al. (Article)

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Race, ethnicity and clinical outcomes in hormone receptor-positive, HER2-negative, node-negative breast cancer in the randomized TAILORx trial, Kathy S Albain, Robert J Gray, Della F Makower, et al. (Article)

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Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes, Tyler Landrith, Bing Li, Ashley A Cass, et al. (Article)

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Twin pregnancy normalizes triglyceride level in Familial Chylomicronemia Syndrome, Pardeep Ratnani, Adib Chaus, and Alan S. Brown (Abstract)

Works from 2017

Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage, Shiv Kumar Viswanathan, Heather K. Sanders, James McNamara, et al. (Article)

Works from 2016

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Aortopathy in hypertrophic cardiomyopathy: the association with dilation of sinus of valsalva versus mid ascending aorta, an epidemiological study, Mirza N. Ahmad, Mirza M. Ahmad, Sharmeen Fatima Hussaini, et al. (Poster)

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Cost-effectiveness of genomic-based warfarin therapy, John Weissert and Kourosh Ravvaz (Poster)

Materiomics for oral disease diagnostics and personal health monitoring: Designer biomaterials for the next generation biomarkers, Wenjun Zhang, Ming L Wang, Sammy Khalili, et al. (Article)

Shared genetic predisposition in peripartum and dilated cardiomyopathies, James S Ware, Jian Li, Erica Mazaika, et al. (Article)

Thoracic aortic dilatation is a hereditary disease: A large cross sectional imaging study, Mirza Mujadil Ahmad, Khawaja Afzal Ammar, Mirza Nubair Ahmad, et al. (Abstract)

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Thoracic aortic dilation is a hereditary disease: a large cross sectional imaging study, Khawaja A. Ammar, Mirza Nubair Ahmad, Mirza M. Ahmad, et al. (Poster)

Tu1482 Common genetic susceptibility factors for recurrent acute pancreatitis (RAP) and chronic pancreatitis (CP) in white patients are rare in black patients, Anna C. Evans, Jessica LaRusch, Judah Abberbock, et al. (Abstract)

Works from 2014

The limits of traditional approaches to informed consent for genomic medicine, Thomas May, Kaija L Zusevics, Arthur Derse, et al. (Article)

Works from 2005

Association of the CTLA-4 gene with rheumatoid arthritis in Chinese Han population, Cai Lei, Zhang Dongqing, Shi Yeqing, et al. (Article)