Works from 2024
Development and validation of clinical criteria to identify familial chylomicronemia syndrome (FCS) in North America, Robert A. Hegele, Zahid Ahmad, Ambika Ashraf, et al. (Article)
Essentials of genomics in nursing undergraduate education: A discussion paper, Sarah L. Dewell, Kathleen A. Muglia, Letitia Y. Graves, et al. (Article)
Therapeutic benefits of phenytoin in calmodulinopathy: A rare and challenging case report, Sakthi Saravanan, Navaneetha Sasikumar, Taniya Rachel Issacs, et al. (Article)
A multi-center analysis of individuals with a 47,XXY/46,XX karyotype, Tiffany Guess, Ferrin C. Wheeler, Ashwini Yenemandra, et al. (Article)
Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy, Stephen M. Brown, Aparna S. Ajjarapu, Divya Ramachandra, et al. (Article)
Severe neurodevelopmental phenotype, diagnostic and treatment challenges in patients with SECISBP2 deficiency, Athanasia Stoupa, Monica Malheiros Franca, Maha Abdulhadi-Atwan, et al. (Article)
Clinical interpretation of genetic variants in the evaluation and management of thoracic aortic aneurysm and dissection, Zaid Abood, M Fuad Jan, Viviana Zlochiver, et al. (Article)
Clinical and genomic risk for late breast cancer recurrence and survival, Joseph A. Sparano, Michael Crager, Robert J. Gray, et al. (Article)
Report of cholangiocarcinoma with transheterozygous BRCA1 and BRCA2 co-mutation, Nicholas Prabhakar, Harrah Chiang, Edward Nabrinsky, et al. (Article)
Retrospective review of the code status of individuals with Down syndrome during the COVID-19 era, Jennifer Jett, Alexander Fossi, Heather Blonsky, et al. (Article)
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)
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)
Genetics and prevention, Jodi Leigh Brehm and Deborah Wham (Book Chapter)
Building towards clinical translation: New study refines genetic architecture of IgA nephropathy, Andrew O. Kearney, Edgar Lerma, and Jennie Lin (Editorial)
Works from 2023
Novel Mutation in Two Siblings With X-Linked Agammaglobulinemia of Heterogenous Leaky Phenotype, Emma C. Williams, Eleanor H. Lee, and Javeed Akhter (Abstract)
Published erratum: 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)
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms, Maninder Kaur, Justin Blair, Jillene Kogan, et al. (Article)
Novel Mutation in Two Siblings With XLA With Heterogenous Leaky Phenotype, Eleanor H. Lee, Emma C. Williams, and Javeed Akhter (Poster)
Prevalence and complications of aberrant subclavian artery in patients with heritable and nonheritable arteriopathies, Lorenzo Giuliani, Alessandro Di Toro, Mario Urtis, et al. (Article)
Works from 2022
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)
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)
Advocating for equitable management of hereditary cancer syndromes, Rikki Gaber Caffrey (Article)
Cardiac Surgery as a Predictor of Cell Mediated Immunity in Patients With 22q11.2 Deletion Syndrome, Teju Dittakavi, Javeed Akhter, and Elizabeth Villafuerte (Abstract)
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)
YAP1 activation by human papillomavirus E7 promotes basal cell identity in squamous epithelia, Joshua Hatterschide, Paola Castagnino, Hee Won Kim, et al. (Article)
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)
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)
Works from 2021
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)
Anesthesia in the postgenomic era: Commercial polymorphism screening in a cardiac surgery patient, Susan K Sankova, Seema Deshpande, Steve P. Miller, et al. (Case Report)
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23, William Burns, Lynne M Bird, Delphine Heron, et al. (Article)
Leveraging Human Genetic Variation to Uncover the Molecular Basis of T Cell Selection and Autoimmunity, Caroline Kaiser, Narutoshi Hibino, Emily Pena, and Andrew Koh (Poster)
160 Factors that influence acceptance of invasive prenatal testing among women with high-risk for fetal aneuploidy, Tamandra Morgan, Danielle C. Tan, Micaela Della Torre, et al. (Abstract)
Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6, Meret Wegler, Christian Roth, Eckehard Schumann, et al. (Article)
Works from 2020
Commentary: moving beyond phenotypic diagnosis, William E Stansfield (Article)
KANK1-NTRK3 fusions define a subset of BRAF mutation negative renal metanephric adenomas, Aida Catic, Amina Kurtovic-Kozaric, Ardis Sophian, et al. (Article)
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)
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)
Can Implementation of Genetics and Pharmacogenomics Improve Treatment of Chronic Low Back Pain?, Vladislav Suntsov, Filip Jovanovic, Emilija Knezevic, et al. (Article)
Does supply equal demand? The workforce of direct patient care genetic counselors in Wisconsin, Carlee Dawson, Erin Syverson, Thomas H Chelius, et al. (Article)
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)
Twin pregnancy normalizes triglyceride level in Familial Chylomicronemia Syndrome, Pardeep Ratnani, Adib Chaus, and Alan S. Brown (Abstract)
Evaluation and classification of severity for 176 genes on an expanded carrier screening panel, Aishwarya Arjunan, Holly Bellerose, Raul Torres, et al. (Article)
Genetic testing in the evaluation of thoracic aortic aneurysms: A single-center experience, Xiaoxiao Qian, Viviana Zlochiver, Muhammad Fuad Jan, et al. (Abstract)
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes, Tyler Landrith, Bing Li, Ashley A Cass, et al. (Article)
Comprehensive genomic profiling of 30,000 consecutive solid tumors, Michael Thompson (Article)
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)
Works from 2018
Managing couple conflict during prenatal counseling sessions: an investigation of genetic counselor experiences and perceptions, Kara Schoeffel, Patricia McCarthy Veach, Karol Rubin, et al. (Article)
Inherited cardiomyopathies & genetics, A J. Tajik (Oral/Podium Presentation)
BRD4 inhibition Is synthetic lethal with PARP inhibitors through the induction of homologous recombination deficiency, Chaoyang Sun, Jun Yin, Yong Fang, et al. (Article)
Association of 70-gene signature assay findings with physicians' treatment guidance for patients with early breast cancer classified as intermediate risk by the 21-gene assay, Michaela Tsai, Shelly Lo, William Audeh, et al. (Article)
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
Cost-effectiveness of genomic-based warfarin therapy, John Weissert and Kourosh Ravvaz (Poster)
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)
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)
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)
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)
Shared genetic predisposition in peripartum and dilated cardiomyopathies, James S Ware, Jian Li, Erica Mazaika, et al. (Article)
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)
Works from 2015
Prospective Validation of a 21-Gene Expression Assay in Breast Cancer, Joseph A Sparano, Robert J Gray, Della F Makower, et al. (Article)
Abstract 18260: Familial Beals- Hecht Syndrome associated with bicuspid aortic valve and right ventricular apical diverticulum. An unusual combination of congenital defects diagnosed in adulthood by multimodality imaging, Valeria E. Duarte, Rayan Yousefzai, Timothy Paterick, et al. (Abstract)
Can gene-expression profiling score help explain the adverse clinical outcomes seen in gender-mismatched heart transplants?, Nasir Z. Sulemanjee, P. Prasad, T. Wolf, 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)