-
1دورية أكاديمية
المؤلفون: Richard D. Corbett, Robert Eveleigh, Joe Whitney, Namrata Barai, Mathieu Bourgey, Eric Chuah, Joanne Johnson, Richard A. Moore, Neda Moradin, Karen L. Mungall, Sergio Pereira, Miriam S. Reuter, Bhooma Thiruvahindrapuram, Richard F. Wintle, Jiannis Ragoussis, Lisa J. Strug, Jo-Anne Herbrick, Naveed Aziz, Steven J. M. Jones, Mark Lathrop, Stephen W. Scherer, Alfredo Staffa, Andrew J. Mungall
المصدر: Frontiers in Genetics, Vol 11 (2020)
مصطلحات موضوعية: whole genome sequencing, genome, benchmark, informatics, comparison, variant, Genetics, QH426-470
وصف الملف: electronic resource
-
2Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotation
المؤلفون: Brett Trost, Bhooma Thiruvahindrapuram, Ada J.S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer L. Howe, Livia O. Loureiro, Miriam S. Reuter, Delnaz Roshandel, Joe Whitney, Mehdi Zarrei, Matthew Bookman, Cherith Somerville, Rulan Shaath, Mona Abdi, Elbay Aliyev, Rohan V. Patel, Thomas Nalpathamkalam, Giovanna Pellecchia, Omar Hamdan, Gaganjot Kaur, Zhuozhi Wang, Jeffrey R. MacDonald, John Wei, Wilson W.L. Sung, Sylvia Lamoureux, Ny Hoang, Thanuja Selvanayagam, Nicole Deflaux, Melissa Geng, Siavash Ghaffari, John Bates, Edwin J. Young, Qiliang Ding, Carole Shum, Lia D’abate, Clarissa A. Bradley, Annabel Rutherford, Vernie Aguda, Beverly Apresto, Nan Chen, Sachin Desai, Xiaoyan Du, Matthew L.Y. Fong, Sanjeev Pullenayegum, Kozue Samler, Ting Wang, Karen Ho, Tara Paton, Sergio L. Pereira, Jo-Anne Herbrick, Richard F. Wintle, Jonathan Fuerth, Juti Noppornpitak, Heather Ward, Patrick Magee, Ayman Al Baz, Usanthan Kajendirarajah, Sharvari Kapadia, Jim Vlasblom, Monica Valluri, Joseph Green, Vicki Seifer, Morgan Quirbach, Olivia Rennie, Elizabeth Kelley, Nina Masjedi, Catherine Lord, Michael J. Szego, Ma’n H. Zawati, Michael Lang, Lisa J. Strug, Christian R. Marshall, Gregory Costain, Kristina Calli, Alana Iaboni, Afiqah Yusuf, Patricia Ambrozewicz, Louise Gallagher, David G. Amaral, Jessica Brian, Mayada Elsabbagh, Stelios Georgiades, Daniel S. Messinger, Sally Ozonoff, Jonathan Sebat, Calvin Sjaarda, Isabel M. Smith, Peter Szatmari, Lonnie Zwaigenbaum, Azadeh Kushki, Thomas W. Frazier, Jacob A.S. Vorstman, Khalid A. Fakhro, Bridget A. Fernandez, M.E. Suzanne Lewis, Rosanna Weksberg, Marc Fiume, Ryan K.C. Yuen, Evdokia Anagnostou, Neal Sondheimer, David Glazer, Dean M. Hartley, Stephen W. Scherer
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b717e0844196ee000bbf7582208abb19
https://doi.org/10.1101/2022.05.05.22274031 -
3
المؤلفون: Brett Trost, Bhooma Thiruvahindrapuram, Ada J.S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer L. Howe, Livia O. Loureiro, Miriam S. Reuter, Delnaz Roshandel, Joe Whitney, Mehdi Zarrei, Matthew Bookman, Cherith Somerville, Rulan Shaath, Mona Abdi, Elbay Aliyev, Rohan V. Patel, Thomas Nalpathamkalam, Giovanna Pellecchia, Omar Hamdan, Gaganjot Kaur, Zhuozhi Wang, Jeffrey R. MacDonald, John Wei, Wilson W.L. Sung, Sylvia Lamoureux, Ny Hoang, Thanuja Selvanayagam, Nicole Deflaux, Melissa Geng, Siavash Ghaffari, John Bates, Edwin J. Young, Qiliang Ding, Carole Shum, Lia D'Abate, Clarrisa A. Bradley, Annabel Rutherford, Vernie Aguda, Beverly Apresto, Nan Chen, Sachin Desai, Xiaoyan Du, Matthew L.Y. Fong, Sanjeev Pullenayegum, Kozue Samler, Ting Wang, Karen Ho, Tara Paton, Sergio L. Pereira, Jo-Anne Herbrick, Richard F. Wintle, Jonathan Fuerth, Juti Noppornpitak, Heather Ward, Patrick Magee, Ayman Al Baz, Usanthan Kajendirarajah, Sharvari Kapadia, Jim Vlasblom, Monica Valluri, Joseph Green, Vicki Seifer, Morgan Quirbach, Olivia Rennie, Elizabeth Kelley, Nina Masjedi, Catherine Lord, Michael J. Szego, Ma'n H. Zawati, Michael Lang, Lisa J. Strug, Christian R. Marshall, Gregory Costain, Kristina Calli, Alana Iaboni, Afiqah Yusuf, Patricia Ambrozewicz, Louise Gallagher, David G. Amaral, Jessica Brian, Mayada Elsabbagh, Stelios Georgiades, Daniel S. Messinger, Sally Ozonoff, Jonathan Sebat, Calvin Sjaarda, Isabel M. Smith, Peter Szatmari, Lonnie Zwaigenbaum, Azadeh Kushki, Thomas W. Frazier, Jacob A.S. Vorstman, Khalid A. Fakhro, Bridget A. Fernandez, M.E. Suzanne Lewis, Rosanna Weksberg, Marc Fiume, Ryan K.C. Yuen, Evdokia Anagnostou, Neal Sondheimer, David Glazer, Dean M. Hartley, Stephen W. Scherer
المصدر: Cell. 185:4409-4427.e18
مصطلحات موضوعية: DNA Copy Number Variations, Autism Spectrum Disorder, Humans, Genetic Predisposition to Disease, Genomics, Autistic Disorder, General Biochemistry, Genetics and Molecular Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04ad9e408a13971a4d30b81a0b6b80b6
https://doi.org/10.1016/j.cell.2022.10.009 -
4
المؤلفون: Sergio L. Pereira, Jo-Anne Herbrick, Joanne Johnson, Stephen W. Scherer, Karen Mungall, Robert Eveleigh, Eric Chuah, Richard F. Wintle, Richard D. Corbett, Naveed Aziz, Richard A Moore, Joe Whitney, Mathieu Bourgey, Namrata Barai, Bhooma Thiruvahindrapuram, Neda Moradin, Lisa J. Strug, Jiannis Ragoussis, Alfredo Staffa, Mark Lathrop, Andrew J. Mungall, Steven J.M. Jones, Miriam S. Reuter
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 11 (2020)مصطلحات موضوعية: Whole genome sequencing, education.field_of_study, whole genome sequencing, lcsh:QH426-470, Computer science, Concordance, Population, Genomics, Replicate, Computational biology, Brief Research Report, Pipeline (software), Genome, DNA sequencing, lcsh:Genetics, benchmark, variant, comparison, Genetics, Molecular Medicine, informatics, education, genome, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2426065b592967a326b128fa233335c
http://europepmc.org/articles/PMC7736078 -
5
المؤلفون: Wilson W L Sung, S. Mohsen Hosseini, Brett Trost, Stephen W. Scherer, John Wei, James Ellis, Jeffrey R. MacDonald, Sarah Bowdin, Janet A. Buchanan, M. Stephen Meyn, Miriam S. Reuter, Rohan V. Patel, Giovanna Pellecchia, Allison Hazell, Ryan A. Cook, Sergio L. Pereira, Bhooma Thiruvahindrapuram, Jennifer L. Howe, Iris Cohn, Lisa J. Strug, Ryan K. C. Yuen, Peter Pasceri, Yvonne Bombard, Joe Whitney, Hin C. Lee, Tara Paton, Anne S. Bassett, Rosanna Weksberg, Jill Davies, Barbara Kellam, Dimitri J. Stavropoulos, Wei Wei, Christian R. Marshall, Cheryl Shuman, Marc Fiume, Fred W. Keeley, Richard F. Wintle, Matthew R. Hildebrandt, Jo Anne Herbrick, Zhuozhi Wang, Peter N. Ray, Thomas Nalpathamkalam, Ronald D. Cohn, Sherilyn L. Bell, Neal Sondheimer, Daniele Merico, Susan Walker, Ann M. Joseph-George, Melanie M. Mahtani, Asli Romm, Chao Lu, Michael J. Szego, Nasim Monfared
المصدر: Canadian Medical Association Journal. 190:E126-E136
مصطلحات موضوعية: Male, 0301 basic medicine, Genetics, Whole genome sequencing, Canada, Whole Genome Sequencing, Genome, Human, Genetic Variation, Genes, Recessive, Sequence Analysis, DNA, General Medicine, Biology, Genome, Personal Genome Project, 03 medical and health sciences, 030104 developmental biology, Genotype, Genetic variation, Humans, Female, Genetic Predisposition to Disease, Human genome, Letters, Copy-number variation, Allele
-
6
المؤلفون: Daniele Merico, Chaim M. Roifman, Nigel Sharfe, Pingzhao Hu, Jo-Anne Herbrick
المصدر: LymphoSign Journal. 2:147-155
مصطلحات موضوعية: Mutation, RELB, Transcription Factor RelB, Biology, medicine.disease_cause, medicine.disease, Molecular biology, Real-time polymerase chain reaction, Immunology, medicine, Signal transduction, Gene, Transcription factor, Immunodeficiency
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a01e65fdf57743ce62aa78523f3cd5c6
https://doi.org/10.14785/lpsn-2015-0005 -
7
المؤلفون: Peter N. Cox, Daniele Merico, Vy Hong-Diep Kim, Chaim M. Roifman, Bhooma Thiruvahindrapuram, Jo-Anne Herbrick, Bo Ngan, Thomas Nalpathamkalam, Andrea Bates, Julia Upton, Nufar Marcus
المصدر: LymphoSign Journal. :10-26
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Lung, Ossification, Intestinal atresia, H&E stain, Biology, medicine.disease, medicine.anatomical_structure, Immunology, medicine, Immunohistochemistry, medicine.symptom, Gene, Immunodeficiency, Pneumonitis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::470d411340e82e0b35b4d9410340b30f
https://doi.org/10.14785/lpsn-2014-0002 -
8
المؤلفون: Nigel Sharfe, Amit Nahum, Andrea Newell, Harjit Dadi, Bo Ngan, Sergio L. Pereira, Jo-Anne Herbrick, Chaim M. Roifman
المصدر: Journal of Allergy and Clinical Immunology. 133:807-817
مصطلحات موضوعية: Male, Heterozygote, Adolescent, Lymphocyte, Immunology, Biology, medicine.disease_cause, Immune system, medicine, Humans, Immunology and Allergy, fas Receptor, Chronic mucocutaneous candidiasis, Child, Gene, Exome sequencing, Immunodeficiency, Mutation, Immunologic Deficiency Syndromes, FOXP3, medicine.disease, Virology, STAT1 Transcription Factor, medicine.anatomical_structure, Child, Preschool, Female
-
9
المؤلفون: Nigel Sharfe, Jo-Anne Herbrick, Harjit Dadi, Chaim M. Roifman, David Chitayat, Sergio Grinstein, Ariana Karanxha, Spencer A. Freeman, Daniele Merico
المصدر: The Journal of allergy and clinical immunology. 142(2)
مصطلحات موضوعية: 0301 basic medicine, CD4-Positive T-Lymphocytes, Adolescent, Class I Phosphatidylinositol 3-Kinases, Developmental Disabilities, Primary Immunodeficiency Diseases, Immunology, Cell Cycle Proteins, Biology, Frameshift mutation, Cell Line, Immunophenotyping, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Genetic linkage, Optic Nerve Diseases, medicine, Immunology and Allergy, Humans, Microtubule-Associated Protein 4, Gene, Immunodeficiency, Gene knockout, Sequence Deletion, Genetics, B-Lymphocytes, Bone Diseases, Developmental, Whole Genome Sequencing, Small Kinetochore-Associated Protein, Siblings, Cell Cycle, Immunologic Deficiency Syndromes, Facies, Infant, Cell Differentiation, medicine.disease, Stop codon, Pedigree, 030104 developmental biology, Child, Preschool, Cancer research, Female, Microtubule-Associated Proteins, 030215 immunology
-
10
المؤلفون: Bhooma Thiruvahindrapuram, Benjamin J. Blencowe, Alyson Kakakios, Maian Roifman, Thomas Nalpathamkalam, Raymond Buncic, Jane Peake, Brenda Reid, Andrea Bates, Stephanie Hogarth, Daniele Merico, Stephen W. Scherer, Ulrich Braunschweig, Paul Gray, Chaim M. Roifman, Sergio L. Pereira, David Manson, Jo-Anne Herbrick, Zhuozhi Wang, Ryan K. C. Yuen, Roumiana Alexandrova
المصدر: Nature Communications
مصطلحات موضوعية: Male, Primary Immunodeficiency Diseases, RNA Splicing, Molecular Sequence Data, General Physics and Astronomy, Dwarfism, Biology, Compound heterozygosity, Osteochondrodysplasias, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Retinal Diseases, Minor spliceosome, Untranslated Regions, RNA, Small Nuclear, medicine, Humans, Point Mutation, Allele, Allele frequency, Alleles, 030304 developmental biology, Genetics, 0303 health sciences, Multidisciplinary, Fetal Growth Retardation, Base Sequence, Point mutation, Intron, Immunologic Deficiency Syndromes, General Chemistry, medicine.disease, Molecular biology, Introns, 3. Good health, Pedigree, Child, Preschool, RNA splicing, Mental Retardation, X-Linked, Microcephaly, Nucleic Acid Conformation, Female, Cardiomyopathies, 030217 neurology & neurosurgery