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المؤلفون: Michelle Cao, Lauren Notini, Samantha Ayres, Danya F. Vears
المصدر: Journal of genetic counselingREFERENCES.
مصطلحات موضوعية: Genetics (clinical)
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المؤلفون: Meaghan Wall, David Francis, Ingrid Scheffer, Tiong Tan, Krithika Murali, Lyndon Gallacher, David Amor, Himanshu Goel, Lilian Downie, Chloe Stutterd, Emma Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen Oliver, Anne Baxter, Anna Hackett, Samantha Ayres, Sebastian Lunke
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f7e2ff231cc0fa05211200d18443e101
https://doi.org/10.21203/rs.3.rs-2041176/v1 -
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المؤلفون: David I. Francis, Zornitza Stark, Ingrid E. Scheffer, Tiong Yang Tan, Krithika Murali, Lyndon Gallacher, David J. Amor, Himanshu Goel, Lilian Downie, Chloe A. Stutterd, Emma I. Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen L. Oliver, Anne Baxter, Anna Hackett, Samantha Ayres, Sebastian Lunke, Paul Kalitsis, Meaghan Wall
المصدر: European journal of human genetics : EJHG.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المصدر: Twin research and human genetics : the official journal of the International Society for Twin Studies. 24(6)
مصطلحات موضوعية: Australasia, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology, Humans, Human Genetics, Genetic Testing, Genomics, Delivery of Health Care, Genetics (clinical)
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المؤلفون: Jackie Boyle, Julia Mansour, Samantha Ayres, Ainsley J Newson, Danya F. Vears
المصدر: Twin Research and Human Genetics. 23:184-189
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Position statement, Gerontology, predictive testing, Adolescent, Genetic counseling, Psychological intervention, Genetic Counseling, young people, genetic testing, 03 medical and health sciences, 0302 clinical medicine, children, adults, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Decision-making, Child, Predictive testing, Genetics (clinical), Genetic testing, Genetics & Heredity, Science & Technology, 030219 obstetrics & reproductive medicine, Australasia, medicine.diagnostic_test, Australia, Obstetrics & Gynecology, Obstetrics and Gynecology, Human genetics, 030104 developmental biology, Asymptomatic Diseases, Pediatrics, Perinatology and Child Health, Female, Psychology, Life Sciences & Biomedicine, Psychosocial, New Zealand
وصف الملف: Print
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7Genetic counseling in pediatric acute care: Reflections on ultra-rapid genomic diagnoses in neonates
المؤلفون: Lyndon Gallacher, Samantha Ayres, Gemma R Brett, Zornitza Stark
المصدر: Journal of Genetic Counseling. 28:273-282
مصطلحات موضوعية: Male, medicine.medical_specialty, Whole Genome Sequencing, medicine.diagnostic_test, business.industry, Genetic counseling, Infant, Newborn, Genetic Counseling, Precision medicine, Infant, Newborn, Diseases, Distress, Intensive Care Units, Neonatal, Acute care, Family medicine, Intensive care, medicine, Humans, Medical genetics, Female, Genetic Testing, Medical diagnosis, business, Genetics (clinical), Genetic testing
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المؤلفون: Kun Xia, Samantha Ayres, Amber Begtrup, Danielle Karlowicz, Raphael Bernier, Ahood Alsulaiman, Frédéric Bilan, Rebecca Hernan, Elena Savva, Fowzan S. Alkuraya, Ingrid M. Wentzensen, Mohammad A. Al-Muhaizea, Audrey Labalme, Sumit Punj, Jenny Meylan Merlini, Evan E. Eichler, Lucile Letienne-Cejudo, Alexia Boizot, Natasha J Brown, Emily Bryant, Senwei Tan, Wendy K. Chung, Bin Yu, Inken Dreyer, Maria J. Guillen Sacoto, Jieqiong Tan, Hilde Peeters, Xiangbin Jia, Inge Lore Ruiz-Arana, Brina Daniels, Elizabeth A. Sellars, Linda Pons, Jianjun Ou, Rujia Dai, Guodong Chen, Gaetan Lesca, Lindsay Rhodes, Anne chun-hui Tsai, Chao Chen, Marie T. McDonald, Linda Laux, Kendra Hoekzema, Hui Guo, Christina Fagerberg, Bradley Schaefer, Huidan Wu, Rhonda E. Schnur, Qiumeng Zhang, Federico Santoni, Qian Pan, Rose B. McGee, Lucia Bartoloni, Brigitte Gilbert-Dussardier, Zhengmao Hu, Charlotte Brasch-Andersen, Dhamidhu Eratne, Valerie Slegesky, Lori A. Carpenter
المصدر: Am J Hum Genet
Guo, H, Zhang, Q, Dai, R, Yu, B, Hoekzema, K, Tan, J, Tan, S, Jia, X, Chung, W K, Hernan, R, Alkuraya, F S, Alsulaiman, A, Al-Muhaizea, M A, Lesca, G, Pons, L, Labalme, A, Laux, L, Bryant, E, Brown, N J, Savva, E, Ayres, S, Eratne, D, Peeters, H, Bilan, F, Letienne-Cejudo, L, Gilbert-Dussardier, B, Ruiz-Arana, I L, Merlini, J M, Boizot, A, Bartoloni, L, Santoni, F, Karlowicz, D, McDonald, M, Wu, H, Hu, Z, Chen, G, Ou, J, Brasch-Andersen, C, Fagerberg, C R, Dreyer, I, chun-hui Tsai, A, Slegesky, V, McGee, R B, Daniels, B, Sellars, E A, Carpenter, L A, Schaefer, B, Sacoto, M J G, Begtrup, A, Schnur, R E, Punj, S, Wentzensen, I M, Rhodes, L, Pan, Q, Bernier, R A, Chen, C, Eichler, E E & Xia, K 2020, ' NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism ', American Journal of Human Genetics, vol. 107, no. 5, pp. 963-976 . https://doi.org/10.1016/j.ajhg.2020.10.002مصطلحات موضوعية: Male, Autism Spectrum Disorder, Gene Expression, Variable Expression, Mice, 0302 clinical medicine, Neurodevelopmental disorder, Genotype-phenotype distinction, Pregnancy, Intellectual disability, Protein Isoforms, RNA, Small Interfering, Child, de novo variants, Genetics (clinical), Cerebral Cortex, Mice, Knockout, Neurons, 0303 health sciences, Learning Disabilities, Phenotype, Pedigree, Autism spectrum disorder, Female, Neuroglia, Adolescent, Genotype, autism spectrum disorder, genotype-phenotype correlation, Biology, Article, 03 medical and health sciences, Young Adult, Intellectual Disability, Genetics, medicine, Animals, Humans, Loss function, 030304 developmental biology, Adaptor Proteins, Signal Transducing, disruptive variant, medicine.disease, neurodevelopmental disorder, NCKAP1, HEK293 Cells, Mutation, Autism, Transcriptome, Neuroscience, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ff727f5e121f299c8cce51056835c29
https://europepmc.org/articles/PMC7674997/ -
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المؤلفون: Sarah A. Sandaradura, Christopher Barnett, Jason Pinner, Sebastian Lunke, Lyndon Gallacher, Kirsten Boggs, Amanda Springer, Melissa Martyn, Chirag Patel, Sarah Schenscher, Lindsay F. Fowles, Fiona Lynch, Samantha Ayres, Michelle G. de Silva, Anne Baxendale, Emma I. Krzesinski, Gemma R Brett, Sarah L King-Smith, Anand Vasudevan, Meredith Wilson, Zornitza Stark
المساهمون: Brett, Gemma R., Martyn, Melissa, Lynch, Fiona, de Silva, Michelle G., King-Smith, Sarah, Stark, Zornitza
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 22(12)
مصطلحات موضوعية: Counseling, Parents, medicine.medical_specialty, media_common.quotation_subject, Emotions, genomic testing, Informed consent, Surveys and Questionnaires, Medicine, Humans, Genetic Testing, Empowerment, Child, Genetics (clinical), media_common, Genetic testing, Response rate (survey), medicine.diagnostic_test, business.industry, Infant, Regret, parent experiences, neonatal and pediatric intensive care, decision regret, Decision Regret Scale, personal utility, Scale (social sciences), Family medicine, Personalized medicine, business
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المؤلفون: Anna E. Richards, Emma I. Krzesinski, Stefanie Eggers, Lauren Hunt, Michelle G. de Silva, Matthew S. Edwards, Megan Higgins, Lyndon Gallacher, Stephanie Best, Kirsten Boggs, Lindsay F. Fowles, Sarah Lang, Alan Ma, Edwin P. Kirk, Zornitza Stark, George Elakis, Natasha J Brown, Lauren S. Akesson, Michael Buckley, Alison Yeung, Sebastian Lunke, Michael C Fahey, Susan M. White, Christopher M. Richmond, Amanda Springer, David Mowat, Alessandra Bray, Janine Smith, Sarah Borrie, Luregn J. Schlapbach, Jessica R. Riseley, Ying Zhu, Jonathan Rodgers, Dean Phelan, Rani Sachdev, Chirag Patel, Sarah A. Sandaradura, Sarah R. B. King, Christopher P. Barnett, John Christodoulou, Maelle Le Moing, Lesley C. Adès, Gemma R Brett, Katherine B. Howell, Meredith Wilson, Matthew F. Hunter, Anne Baxendale, Natalie B Tan, Belinda Chong, Anand Vasudevan, Tiong Yang Tan, Kristi J. Jones, Christiane Theda, Michael C.J. Quinn, Andrew Fennell, Jason Pinner, Smitha Kumble, Melissa Martyn, Tony Roscioli, Cheng Yee Chan, Simon Sadedin, Corrina Cliffe, David J. Amor, Suzanna L. Temple, Samantha Ayres, Martin B. Delatycki
المساهمون: Lunke, Sebastian, Eggers, Stefanie, Wilson, Meredith, Patel, Chirag, King, Sarah, Stark, Zornitza
مصطلحات موضوعية: Pediatric intensive care unit, medicine.medical_specialty, Pediatrics, Referral, business.industry, Critically ill, critically ill, Australia, Obstetrics and Gynecology, General Medicine, infants and children, Confidence interval, ultrarapid genomic testing, neonatal and pediatric patients, medicine, Medical genetics, Personalized medicine, Medical diagnosis, business, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a33ca900ac169cc9fafbd67055827d1
https://hdl.handle.net/11541.2/145752