Citations (46)
Keep up to date with the latest research on this topic with citation updates for this article.
Read on this site (1)
Anna Zeitlberger, Heather Ging, Suran Nethisinghe & Paola Giunti. (2018) Advances in the understanding of hereditary ataxia – implications for future patients. Expert Opinion on Orphan Drugs 6:3, pages 203-217.
Read now
Read now
Articles from other publishers (45)
Ana Ibáñez, Sonia Garrido-Chamorro, Juan J. R. Coque & Carlos Barreiro. (2023) From Genes to Bioleaching: Unraveling Sulfur Metabolism in Acidithiobacillus Genus. Genes 14:9, pages 1772.
Crossref
Crossref
Leila Jamal, Makenna May, Michael R. Setzer, Mary Yu, Benjamin Berkman & Morgan Similuk. (2023) Research participants' perspectives about the return of uninformative genomic test results in a clinical research setting. Journal of Genetic Counseling.
Crossref
Crossref
Luís Ramalhete, Emanuel Vigia, Rúben Araújo & Hugo Pinto Marques. (2023) Proteomics-Driven Biomarkers in Pancreatic Cancer. Proteomes 11:3, pages 24.
Crossref
Crossref
Fan Jiang, Jianying Zhou, Liandong Zuo, Xuewei Tang, Jian Li, Fatao Li, Tianhe Yang, Yanxia Qu, Junhui Wan, Can Liao & Dongzhi Li. (2023) Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants. Frontiers in Genetics 14.
Crossref
Crossref
Stephanie Best, Abdullah Al Mahmud, Shivani Tyagi, Jack C W Wheeler, Abdur Rahim Mohammad Forkan, Alexandra Lewis, Nadeem Shuakat, Rohit Kaul, Aisha Ward, Nilmini Wickramasinghe, Prem Prakash Jayaraman & Alison H Trainer. (2023) Development of a person-centred digital platform for the long-term support of people living with an adult-onset genetic disease predisposition: a mixed-methods study protocol. BMJ Open 13:7, pages e071492.
Crossref
Crossref
Rebekah Maksoud, Chandi Magawa, Natalie Eaton-Fitch, Kiran Thapaliya & Sonya Marshall-Gradisnik. (2023) Biomarkers for myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS): a systematic review. BMC Medicine 21:1.
Crossref
Crossref
Suman Kumar Ray & Sukhes Mukherjee. (2023) Starring Role of Biomarkers and Anticancer Agents as a Major
Driver in Precision Medicine of Cancer Therapy. Current Molecular Medicine 23:2, pages 111-126.
Crossref
Crossref
Julia Handra, Adrienne Elbert, Nour Gazzaz, Ashley Moller-Hansen, Stephanie Hyunh, Hyun Kyung Lee, Pierre Boerkoel, Emily Alderman, Erin Anderson, Lorne Clarke, Sara Hamilton, Ronnalea Hamman, Shevaun Hughes, Simon Ip, Sylvie Langlois, Mary Lee, Laura Li, Frannie Mackenzie, Millan S. Patel, Leah M. Prentice, Karan Sangha, Laura Sato, Kimberly Seath, Margaret Seppelt, Anne Swenerton, Lynn Warnock, Jessica L. Zambonin, Cornelius F. Boerkoel, Hui-Lin Chin & Linlea Armstrong. (2023) The practice of genomic medicine: A delineation of the process and its governing principles. Frontiers in Medicine 9.
Crossref
Crossref
Sheik S.S.J. Ahmed, Ramakrishnan Veerabathiran, Mookkandi Sudhan, Harsh Panwar & Prabu Pramasivam. 2023. Oncogenic Viruses. Oncogenic Viruses
109
145
.
Teodora Ribarska, Pål Marius Bjørnstad, Arvind Y. M. Sundaram & Gregor D. Gilfillan. (2022) Optimization of enzymatic fragmentation is crucial to maximize genome coverage: a comparison of library preparation methods for Illumina sequencing. BMC Genomics 23:1.
Crossref
Crossref
Leland E. Hull, David Cheng, Mie H. Hallman, M. L. Rieu-Werden & Jennifer S. Haas. (2022) Association of Patient and Site-of-Care Characteristics With Reproductive Carrier Screening Timing in a Large Integrated Health System. JAMA Network Open 5:11, pages e2240829.
Crossref
Crossref
Shiqiang Luo, Xingyuan Chen, Dingyuan Zeng, Ning Tang, Dejian Yuan, Bailing Liu, Lizhu Chen, Qingyan Zhong, Jiaqi Li, Yinyin Liu, Jianping Chen, Xiaoyuan Wang & Tizhen Yan. (2022) Detection of four rare thalassemia variants using Single-molecule realtime sequencing. Frontiers in Genetics 13.
Crossref
Crossref
Matthew J. Belanger, Erik M. Kelly, Usman A. TahirMark D. Benson. (2021) Genetic Risk Assessment for Atherosclerotic Cardiovascular Disease: A Guide for the General Cardiologist. Cardiology in Review 30:4, pages 206-213.
Crossref
Crossref
Otto Halmesvaara, Marleena Vornanen, Helena Kääriäinen, Markus Perola, Kati Kristiansson & Hanna Konttinen. (2022) Psychosocial Effects of Receiving Genome-Wide Polygenic Risk Information Concerning Type 2 Diabetes and Coronary Heart Disease: A Randomized Controlled Trial. Frontiers in Genetics 13.
Crossref
Crossref
Kevin Wilhelm, Mathew J. Edick, Susan A. Berry, Michael Hartnett & Amy Brower. (2022) Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions. Frontiers in Genetics 13.
Crossref
Crossref
Fan Jiang, Ai-Ping Mao, Yin-Yin Liu, Feng-Zhi Liu, Yan-Lin Li, Jian Li, Jian-Ying Zhou, Xue-Wei Tang, Ai-Ping Ju, Fa-Tao Li, Jun-Hui Wan, Lian-Dong Zuo & Dong-Zhi Li. (2022) Detection of rare thalassemia mutations using long-read single-molecule real-time sequencing. Gene 825, pages 146438.
Crossref
Crossref
Marcel Friedrichs. 2022. Integrative Bioinformatics. Integrative Bioinformatics
97
110
.
Stacey Pereira, Hadley Stevens Smith, Leslie A. Frankel, Kurt D. Christensen, Rubaiya Islam, Jill Oliver Robinson, Casie A. Genetti, Carrie L. Blout Zawatsky, Bethany Zettler, Richard B. Parad, Susan E. Waisbren, Alan H. Beggs, Robert C. Green, Ingrid A. Holm, Amy L. McGuire, Pankaj B. Agrawal, Alan H. Beggs, Wendi N. Betting, Ozge Ceyhan-Birsoy, Kurt D. Christensen, Dmitry Dukhovny, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Chet Graham, Robert C. Green, Amanda M. Gutierrez, Maegan Harden, Ingrid A. Holm, Joel B. Krier, Matthew S. Lebo, Kaitlyn B. Lee, Harvey L. Levy, Xingquan Lu, Kalotina Machini, Amy L. McGuire, Jaclyn B. Murry, Medha Naik, Tiffany T. Nguyen Dolphyn, Richard B. Parad, Hayley A. Peoples, Stacey Pereira, Devan Petersen, Uma Ramamurthy, Vivek Ramanathan, Heidi L. Rehm, Amy Roberts, Jill Oliver Robinson, Sergei Roumiantsev, Talia S. Schwartz, Hadley Stevens Smith, Tina K. Truong, Grace E. VanNoy, Susan E. Waisbren, Timothy W. Yu, Carrie L. Blout Zawatsky & Bethany Zettler. (2021) Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project. JAMA Pediatrics 175:11, pages 1132.
Crossref
Crossref
Marcel Friedrichs. (2021) BioDWH2: an automated graph-based data warehouse and mapping tool. Journal of Integrative Bioinformatics 18:2, pages 167-176.
Crossref
Crossref
Courtney M. Studwell, Emily G. Kelley, Janet S. Sinsheimer, Christina G. S. Palmer & Kimberly LeBlanc. (2020) Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice. Journal of Genetic Counseling 30:2, pages 439-447.
Crossref
Crossref
Chiara Di Resta, GiovanniBattista Pipitone, Paola Carrera & Maurizio Ferrari. (2021) Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing. Neural Regeneration Research 16:3, pages 475.
Crossref
Crossref
Simone Schumann, Brigitte Gschmeidler & Giuseppe Pellegrini. (2020) Knowing, relationships and trust—citizens’ perceptions of whole genome sequencing for the Genetics Clinic of the Future. Journal of Community Genetics 12:1, pages 67-80.
Crossref
Crossref
Rodolfo Wadovski, Roberto Nogueira & Paula Chimenti. (2020) Genetic services diffusion in the precision medicine ecosystem. International Journal of Pharmaceutical and Healthcare Marketing 14:4, pages 533-560.
Crossref
Crossref
Andrew L. Lundquist, Renee C. Pelletier, Courtney E. Leonard, Winfred W. Williams, Katrina A. Armstrong, Heidi L. Rehm & Eugene P. Rhee. (2020) From Theory to Reality: Establishing a Successful Kidney Genetics Clinic in the Outpatient Setting. Kidney360 1:10, pages 1099-1106.
Crossref
Crossref
Will Schupmann, Leila Jamal & Benjamin E. Berkman. (2020) Re-examining the Ethics of Genetic Counselling in the Genomic Era. Journal of Bioethical Inquiry 17:3, pages 325-335.
Crossref
Crossref
Cathrine JespersgaardAli SyedPiotr Chmura & Peter Løngreen. (2020) Supercomputing and Secure Cloud Infrastructures in Biology and Medicine. Annual Review of Biomedical Data Science 3:1, pages 391-410.
Crossref
Crossref
Caitlin Dreisbach & Theresa A. Koleck. (2020) The State of Data Science in Genomic Nursing. Biological Research For Nursing 22:3, pages 309-318.
Crossref
Crossref
Alka Chaubey, Suresh Shenoy, Abhinav Mathur, Zeqiang Ma, C. Alexander Valencia, Babi R. Reddy Nallamilli, Edward SzekeresJr.Jr., Leah Stansberry, Ruby Liu & Madhuri R. Hegde. (2020) Low-Pass Genome Sequencing. The Journal of Molecular Diagnostics 22:6, pages 823-840.
Crossref
Crossref
Michael L. Cuccaro, Clara P. Manrique, Maria A. Quintero, Ricardo Martinez & Jacob L. McCauley. (2020) Understanding Participation in Genetic Research Among Patients With Multiple Sclerosis: The Influences of Ethnicity, Gender, Education, and Age. Frontiers in Genetics 11.
Crossref
Crossref
Luke A. Gallion, Matthew M. Anttila, David H. Abraham, Angela Proctor & Nancy L. Allbritton. (2020) Preserving single cells in space and time for analytical assays. TrAC Trends in Analytical Chemistry 122, pages 115723.
Crossref
Crossref
Miguel Vazquez & Alfonso Valencia. (2019) Patient Dossier: Healthcare queries over distributed resources. PLOS Computational Biology 15:10, pages e1007291.
Crossref
Crossref
Daoud Meerzaman & Barbara K. Dunn. (2019) Value of Collaboration among Multi-Domain Experts in Analysis of High-Throughput Genomics Data. Cancer Research 79:20, pages 5140-5145.
Crossref
Crossref
Maofeng Dou, Frank C. Maier & Maria Fyta. (2019) The influence of a solvent on the electronic transport across diamondoid-functionalized biosensing electrodes. Nanoscale 11:30, pages 14216-14225.
Crossref
Crossref
Joon-Ho Yu, Paul S Appelbaum, Kyle B Brothers, Steven Joffe, Tia L Kauffman, Barbara A Koenig, Anya ER Prince, Sarah Scollon, Susan M Wolf, Barbara A Bernhardt & Benjamin S Wilfond. (2019) Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium. Personalized Medicine 16:4, pages 325-333.
Crossref
Crossref
Peter Libby, Robert Sidlow, Amy E. Lin, Dipti Gupta, Lee W. Jones, Javid Moslehi, Andreas Zeiher, Siddhartha Jaiswal, Christian Schulz, Ron Blankstein, Kelly L. Bolton, David Steensma, Ross L. Levine & Benjamin L. Ebert. (2019) Clonal Hematopoiesis. Journal of the American College of Cardiology 74:4, pages 567-577.
Crossref
Crossref
Madeline Graf, Danton Char, Andrea Hanson‐Kahn & David Magnus. (2019) Use of genetic risks in pediatric organ transplantation listing decisions: A national survey. Pediatric Transplantation 23:4.
Crossref
Crossref
Yu Liang, Li He, Yiru Zhao, Yinyi Hao, Yifan Zhou, Menglong Li, Chuan Li, Xuemei Pu & Zhining Wen. (2019) Comparative Analysis for the Performance of Variant Calling Pipelines on Detecting the de novo Mutations in Humans. Frontiers in Pharmacology 10.
Crossref
Crossref
Cinthya J. Zepeda-Mendoza & Cynthia C. Morton. (2019) The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders. The American Journal of Human Genetics 104:4, pages 565-577.
Crossref
Crossref
Piergiorgio Fedeli, Claudia Casella, Claudio Buccelli, Nunzia Cannovo & Vincenzo Graziano. (2019) Genetic Research: The Role of Citizens, Public Health and International Stakeholders. The Open Public Health Journal 12:1, pages 106-113.
Crossref
Crossref
Paramita Basu, Rajesh Vadlapatla, Priyank Kumar & Joshua P. Gray. 2019. A Worldwide Yearly Survey of New Data in Adverse Drug Reactions. A Worldwide Yearly Survey of New Data in Adverse Drug Reactions
573
615
.
Rui Yin, Chee Keong Kwoh & Jie Zheng. 2019. Encyclopedia of Bioinformatics and Computational Biology. Encyclopedia of Bioinformatics and Computational Biology
176
183
.
Li Du & Shmuel I. Becher. (2018) Genetic and Genomic Consultation: Are We Ready for Direct-to-Consumer Telegenetics?. Frontiers in Genetics 9.
Crossref
Crossref
Stacy W Gray, Jeffrey Gagan, Ethan Cerami, Angel M Cronin, Hajime Uno, Nelly Oliver, Carol Lowenstein, Ruth Lederman, Anna Revette, Aaron Suarez, Charlotte Lee, Jordan Bryan, Lynette Sholl & Eliezer M Van Allen. (2018) Interactive or static reports to guide clinical interpretation of cancer genomics. Journal of the American Medical Informatics Association 25:5, pages 458-464.
Crossref
Crossref
Simon Ardui, Adam Ameur, Joris R Vermeesch & Matthew S Hestand. (2018) Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics. Nucleic Acids Research 46:5, pages 2159-2168.
Crossref
Crossref
Oluwadurotimi S Aworunse, Oluwatomiwa Adeniji, Olusola L Oyesola, Itunuoluwa Isewon, Jelili Oyelade & Olawole O Obembe. (2018) Genomic Interventions in Medicine. Bioinformatics and Biology Insights 12, pages 117793221881610.
Crossref
Crossref