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Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2
Gabai-Kapara, Efrat, Lahad, Amnon, Kaufman, Bella, Friedman, Eitan, Segev, Shlomo, Renbaum, Paul, Beeri, Rachel, Gal, Moran, Grinshpun-Cohen, Julia, Djemal, Karen, Mandell, Jessica B., Lee, Ming K., Beller, Uziel, Catane, Raphael, King, Mary-Claire, Levy-Lahad, Ephrat
Published in Proceedings of the National Academy of Sciences - PNAS (30.09.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (30.09.2014)
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A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
Kingsmore, Stephen F., Smith, Laurie D., Kunard, Chris M., Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P., Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C., Guidugli, Lucia, Hall, Kevin P., Hansen, Christian, Hobbs, Charlotte A., Kahn, Scott D., Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H., Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R., Oh, Danny, Owen, Mallory J., Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S., Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G., Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J., Wolen, Aaron R., Defay, Thomas
Published in American journal of human genetics (01.09.2022)
Published in American journal of human genetics (01.09.2022)
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Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction of DPYD and fluoropyrimidines
Lunenburg, Carin A. T. C., van der Wouden, Cathelijne H., Nijenhuis, Marga, Crommentuijn-van Rhenen, Mandy H., de Boer-Veger, Nienke J., Buunk, Anne Marie, Houwink, Elisa J. F., Mulder, Hans, Rongen, Gerard A., van Schaik, Ron H. N., van der Weide, Jan, Wilffert, Bob, Deneer, Vera H. M., Swen, Jesse J., Guchelaar, Henk-Jan
Published in European journal of human genetics : EJHG (01.04.2020)
Published in European journal of human genetics : EJHG (01.04.2020)
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Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies
Shang, Xuan, Peng, Zhiyu, Ye, Yuhua, Asan, Zhang, Xinhua, Chen, Yan, Zhu, Baosheng, Cai, Wangwei, Chen, Shaoke, Cai, Ren, Guo, Xiaoling, Zhang, Chonglin, Zhou, Yuqiu, Huang, Shuodan, Liu, Yanhui, Chen, Biyan, Yan, Shanhuo, Chen, Yajun, Ding, Hongmei, Yin, Xiaolin, Wu, Liusong, He, Jing, Huang, Dongai, He, Sheng, Yan, Tizhen, Fan, Xin, Zhou, Yuehong, Wei, Xiaofeng, Zhao, Sumin, Cai, Decheng, Guo, Fengyu, Zhang, Qianqian, Li, Yun, Zhang, Xuelian, Lu, Haorong, Huang, Huajie, Guo, Junfu, Zhu, Fei, Yuan, Yuan, Zhang, Li, Liu, Na, Li, Zhiming, Jiang, Hui, Zhang, Qiang, Zhang, Yijia, Juhari, Wan Khairunnisa Wan, Hanafi, Sarifah, Zhou, Wanjun, Xiong, Fu, Yang, Huanming, Wang, Jian, Zilfalil, Bin Alwi, Qi, Ming, Yang, Yaping, Yin, Ye, Mao, Mao, Xu, Xiangmin
Published in EBioMedicine (01.09.2017)
Published in EBioMedicine (01.09.2017)
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Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis
Sharp, Seth A., Rich, Stephen S., Wood, Andrew R., Jones, Samuel E., Beaumont, Robin N., Harrison, James W., Schneider, Darius A., Locke, Jonathan M., Tyrrell, Jess, Weedon, Michael N., Hagopian, William A., Oram, Richard A.
Published in Diabetes care (01.02.2019)
Published in Diabetes care (01.02.2019)
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A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants
Lenassi, Eva, Vincent, Ajoy, Li, Zheng, Saihan, Zubin, Coffey, Alison J, Steele-Stallard, Heather B, Moore, Anthony T, Steel, Karen P, Luxon, Linda M, Héon, Elise, Bitner-Glindzicz, Maria, Webster, Andrew R
Published in European journal of human genetics : EJHG (01.10.2015)
Published in European journal of human genetics : EJHG (01.10.2015)
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One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study
Nunziato, Marcella, Starnone, Flavio, Giordano, Sonia, D'Antonio, Marcella, Scognamiglio, Domenico, Esposito, Maria Valeria, Correra, Antonio, Di Maggio, Federica, D'Argenio, Valeria, Luca Scaglione, Giovanni, Castaldo, Giuseppe, Salvatore, Francesco
Published in Clinica chimica acta (01.01.2024)
Published in Clinica chimica acta (01.01.2024)
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IVF outcomes of embryos with abnormal PGT-A biopsy previously refused transfer: a prospective cohort study
Barad, D H, Albertini, D F, Molinari, E, Gleicher, N
Published in Human reproduction (Oxford) (30.05.2022)
Published in Human reproduction (Oxford) (30.05.2022)
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Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study
Galimberti, Daniela, Fumagalli, Giorgio G., Fenoglio, Chiara, Cioffi, Sara M.G., Arighi, Andrea, Serpente, Maria, Borroni, Barbara, Padovani, Alessandro, Tagliavini, Fabrizio, Masellis, Mario, Tartaglia, Maria Carmela, van Swieten, John, Meeter, Lieke, Graff, Caroline, de Mendonça, Alexandre, Bocchetta, Martina, Rohrer, Jonathan D., Scarpini, Elio, Andersson, Christin, Archetti, Silvana, Arighi, Andrea, Benussi, Luisa, Binetti, Giuliano, Black, Sandra, Cash, David, Cosseddu, Maura, Dick, Katrina M., Fallström, Marie, Ferreira, Carlos, Finger, Elizabeth, Fox, Nick, Freedman, Morris, Frisoni, Giovanni, Gazzina, Stefano, Ghidoni, Roberta, Grisoli, Marina, Jelic, Vesna, Jiskoot, Lize, Keren, Ron, Laforce, Robert, Lombardi, Gemma, Maruta, Carolina, Mead, Simon, Meeter, Lieke, van Minkelen, Rick, Nacmias, Benedetta, Öijerstedt, Linn, Ourselin, Sebastien, Panman, Jessica, Pievani, Michela, Polito, Cristina, Prioni, Sara, Rademakers, Rosa, Redaelli, Veronica, Rogaeva, Ekaterina, Rossi, Giacomina, Besta, Carlo, Rossor, Martin, Rowe, James, Sorbi, Sandro, Tang-Wai, David, Thomas, David L., Thonberg, Hakan, Tiraboschi, Pietro, Verdelho, Ana, Warren, Jason
Published in Neurobiology of aging (01.02.2018)
Published in Neurobiology of aging (01.02.2018)
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Obstetric, neonatal, and child health outcomes following embryo biopsy for preimplantation genetic testing
Alteri, Alessandra, Cermisoni, Greta Chiara, Pozzoni, Mirko, Gaeta, Gerarda, Cavoretto, Paolo Ivo, Viganò, Paola
Published in Human reproduction update (02.05.2023)
Published in Human reproduction update (02.05.2023)
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Genotype–phenotype associations among panel-based TP53+ subjects
Rana, Huma Q., Clifford, Jacob, Hoang, Lily, LaDuca, Holly, Black, Mary Helen, Li, Shuwei, McGoldrick, Kelly, Speare, Virginia, Dolinsky, Jill S., Gau, Chia-Ling, Garber, Judy E.
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
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Non‐invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies
Zhang, H., Gao, Y., Jiang, F., Fu, M., Yuan, Y., Guo, Y., Zhu, Z., Lin, M., Liu, Q., Tian, Z., Zhang, H., Chen, F., Lau, T. K., Zhao, L., Yi, X., Yin, Y., Wang, W.
Published in Ultrasound in obstetrics & gynecology (01.05.2015)
Published in Ultrasound in obstetrics & gynecology (01.05.2015)
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A genetic study of Wilson’s disease in the United Kingdom
Coffey, Alison J., Durkie, Miranda, Hague, Stephen, McLay, Kirsten, Emmerson, Jennifer, Lo, Christine, Klaffke, Stefanie, Joyce, Christopher J., Dhawan, Anil, Hadzic, Nedim, Mieli-Vergani, Giorgina, Kirk, Richard, Elizabeth Allen, K., Nicholl, David, Wong, Siew, Griffiths, William, Smithson, Sarah, Giffin, Nicola, Taha, Ali, Connolly, Sally, Gillett, Godfrey T., Tanner, Stuart, Bonham, Jim, Sharrack, Basil, Palotie, Aarno, Rattray, Magnus, Dalton, Ann, Bandmann, Oliver
Published in Brain (London, England : 1878) (01.05.2013)
Published in Brain (London, England : 1878) (01.05.2013)
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Minimally invasive skin tape strip RNA sequencing identifies novel characteristics of the type 2–high atopic dermatitis disease endotype
Dyjack, Nathan, Goleva, Elena, Rios, Cydney, Kim, Byung Eui, Bin, Lianghua, Taylor, Patricia, Bronchick, Caroline, Hall, Clifton F., Richers, Brittany N., Seibold, Max A., Leung, Donald Y.M.
Published in Journal of allergy and clinical immunology (01.04.2018)
Published in Journal of allergy and clinical immunology (01.04.2018)
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Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing
Rana, Huma Q, Gelman, Rebecca, LaDuca, Holly, McFarland, Rachel, Dalton, Emily, Thompson, Jennifer, Speare, Virginia, Dolinsky, Jill S, Chao, Elizabeth C, Garber, Judy E
Published in JNCI : Journal of the National Cancer Institute (01.08.2018)
Published in JNCI : Journal of the National Cancer Institute (01.08.2018)
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A systematic review and meta-analysis of double trophectoderm biopsy and/or cryopreservation in PGT: balancing the need for a diagnosis against the risk of harm
Li Piani, Letizia, Petrone, Pasquale, Brutto, Mariafrancesca, De Vos, Anick, Van Der Kelen, Annelore, Vaiarelli, Alberto, Rienzi, Laura, Conforti, Alessandro, Cimadomo, Danilo, Verpoest, Willem
Published in Human reproduction update (01.03.2025)
Published in Human reproduction update (01.03.2025)
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Diagnostic criteria for Huntington's disease based on natural history
Reilmann, Ralf, Leavitt, Blair R., Ross, Christopher A.
Published in Movement disorders (15.09.2014)
Published in Movement disorders (15.09.2014)
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Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations
Capalbo, Antonio, de Wert, Guido, Mertes, Heidi, Klausner, Liraz, Coonen, Edith, Spinella, Francesca, Van de Velde, Hilde, Viville, Stephane, Sermon, Karen, Vermeulen, Nathalie, Lencz, Todd, Carmi, Shai
Published in Human reproduction update (01.10.2024)
Published in Human reproduction update (01.10.2024)
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Using chatbots to screen for heritable cancer syndromes in patients undergoing routine colonoscopy
Heald, Brandie, Keel, Emma, Marquard, Jessica, Burke, Carol A, Kalady, Matthew F, Church, James M, Liska, David, Mankaney, Gautam, Hurley, Karen, Eng, Charis
Published in Journal of medical genetics (01.12.2021)
Published in Journal of medical genetics (01.12.2021)
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