المؤلفون: Anna Dvaladze, Erika Tavares, Matteo Di Scipio, Graeme Nimmo, Monika K. Grudzinska‐Pechhacker, Tara Paton, Anupreet Tumber, Shuning Li, Christabel Eileen, Birgit Ertl‐Wagner, Eva Mamak, Georg Hoffmann, Christian R. Marshall, Dorothea Haas, Ertan Mayatepek, Andreas Schulze, Elise Heon, Ajoy Vincent

المصدر: Clinical geneticsREFERENCES. 102(6)

مصطلحات موضوعية: Male, Mutation, Genetics, Humans, Mevalonate Kinase Deficiency, Genetics (clinical), Retinitis Pigmentosa, Introns, Pedigree

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a37034bdaa16050594f895c70ba0166Test
https://pubmed.ncbi.nlm.nih.gov/35916082Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b717e0844196ee000bbf7582208abb19Test
https://doi.org/10.1101/2022.05.05.22274031Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04ad9e408a13971a4d30b81a0b6b80b6Test
https://doi.org/10.1016/j.cell.2022.10.009Test

المؤلفون: Anjali Vig, James A. Poulter, Daniele Ottaviani, Erika Tavares, Katerina Toropova, Anna Maria Tracewska, Antonio Mollica, Jasmine Kang, Oshini Kehelwathugoda, Tara Paton, Jason T. Maynes, Gabrielle Wheway, Gavin Arno, J.C. Ambrose, P. Arumugam, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, A. de Burca, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, J.M. Hackett, D. Halai, A. Hamblin, S. Henderson, J.E. Holman, T.J.P. Hubbard, K. Ibáñez, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, C. Patch, D. Perez-Gil, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Kamron N. Khan, Martin McKibbin, Carmel Toomes, Manir Ali, Matteo Di Scipio, Shuning Li, Jamie Ellingford, Graeme Black, Andrew Webster, Małgorzata Rydzanicz, Piotr Stawiński, Rafał Płoski, Ajoy Vincent, Michael E. Cheetham, Chris F. Inglehearn, Anthony Roberts, Elise Heon

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Proband, Retinal degeneration, intraflagellar transport (IFT), Cytoplasmic Dyneins, Ellis-Van Creveld Syndrome, 030105 genetics & heredity, Biology, Article, Retina, 03 medical and health sciences, Exon, chemistry.chemical_compound, primary cilia, medicine, Organoid, Missense mutation, Humans, Induced pluripotent stem cell, Genetics (clinical), Exome sequencing, Retinal Degeneration, Retinal, Exons, DYNC2H1, medicine.disease, Molecular biology, retinitis pigmentosa (RP), Pedigree, inherited retinal disease (IRD), 030104 developmental biology, chemistry, Mutation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c0d1392a5b005c16762f6fc0adb770bTest
http://europepmc.org/articles/PMC7708302Test

المؤلفون: Kelsey Kalbfleisch, Robin Z. Hayeems, Miriam S. Reuter, Iris Cohn, Rebekah K. Jobling, Raymond H. Kim, Roozbeh Manshaei, Tara Paton, John B. A. Okello, Ruud H J Verstegen, Abby J. Krupski, Reem Khan, Aaron Goldman, Eriskay Liston, Meredith Curtis, Shinya Ito

المصدر: JAMA Network Open

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Population, Pharmacogenomic Testing, Pilot Projects, Pediatrics, Cohort Studies, Pharmacotherapy, Internal medicine, medicine, Humans, Dosing, Genetic Testing, Precision Medicine, education, Child, Original Investigation, Pharmacy and Clinical Pharmacology, Ontario, education.field_of_study, business.industry, Tertiary Healthcare, Research, Standard treatment, General Medicine, Online Only, Point-of-Care Testing, Cohort, Female, business, Pharmacogenetics, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fd943cd3ff8f50f697db4c6d9d2d71bTest
https://pubmed.ncbi.nlm.nih.gov/34037737Test

المؤلفون: Tara Goodale, Wendy Roberts, Jason P. Lerch, Bridget A. Fernandez, Melissa T. Carter, Vorstman Jas, Flanagan J, Bhooma Thiruvahindrapuram, Lonnie Zwaigenbaum, Jennifer Crosbie, Paul D. Arnold, Christian R. Marshall, Drmic I, Muhammad Faheem, Rohan V. Patel, Russell Schachar, Jennifer L. Howe, Kozue Samler, Stephen W. Scherer, Lu C, Rob Nicolson, Janet A. Buchanan, Edward J Higginbotham, Tara Paton, Mayada Elsabbagh, Chan Ajs, Stelios Georgiades, Peter Szatmari, Cheryl Cytrynbaum, Bahareh A. Mojarad, Daniele Merico, Sylvia Lamoureux, Evdokia Anagnostou, Barbara Kellam, Xudong Liu, Dimitri J. Stavropoulos, Christie L. Burton, Brett Trost, Ny Hoang, MacDonald, Young Ej, Anne S. Bassett, Heung T, Worrawat Engchuan, Wang X, Richard F. Wintle, Gregory A. Costain, Yuen Rkc, Marc Woodbury-Smith, Maian Roifman, Giovanna Pellecchia, Susan Walker, David R. Rosenberg, John Wei, Rosanna Weksberg, Mehdi Zarrei, Miron K, Wang T, Gregory L. Hanna, Marsha Speevak

المصدر: Paediatrics Publications
NPJ Genomic Medicine
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-13 (2019)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, lcsh:QH426-470, Microarray, lcsh:Medicine, Neurogenetics, Pathogenesis, Article, 03 medical and health sciences, 0302 clinical medicine, mental disorders, Genetics, medicine, Attention deficit hyperactivity disorder, Copy-number variation, Molecular Biology, Genetics (clinical), Molecular medicine, business.industry, lcsh:R, Neurodevelopmental disorders, medicine.disease, 3. Good health, lcsh:Genetics, 030104 developmental biology, Autism spectrum disorder, Schizophrenia, Etiology, Medical genetics, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a786610f389afd143c4d95731aeb72eTest
https://ir.lib.uwo.ca/context/paedpub/article/2471/viewcontent/s41525_019_0098_3.pdfTest

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b2df1093bd60b4a1ff0d0715877c4f3Test
https://doi.org/10.1503/cmaj.171151Test

المؤلفون: Richard F. Wintle, Karen Y. Ho, Zhuozhi Wang, Maria Franke, Sergio L. Pereira, Stephen W. Scherer, Joseph Whitney, Christopher J. Dutton, Matthew Coole, Janet A. Buchanan, Karen Ng, Ting Wang, Kevin C. R. Kerr, Susan Walker, Arum Shipstone, Wilson W L Sung, William Rapley, Yogi Sundaravadanam, Si Lok, Amy Hin Yan Tong, Pirooz Rostami, Travis J. Dawson, Burton K. Lim, Nan Chen, Sanjeev Pullenayegum, Ryan K. C. Yuen, Carol Ann Ryan, Kozue Samler, Fiona Tsoi, Jared T. Simpson, Naina Singh, Gaganjot Kaur, Brett Trost, Beverly Apresto, Mark D. Engstrom, Tara Paton, Zhizhou Hu

المصدر: G3: Genes, Genomes, Genetics, Vol 7, Iss 2, Pp 755-773 (2017)
G3: Genes|Genomes|Genetics

مصطلحات موضوعية: 0301 basic medicine, Beaver, genome annotation, Sequence assembly, Investigations, QH426-470, Genome, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, biology.animal, Genetics, Molecular Biology, Genetics (clinical), Whole genome sequencing, Castor canadensis, biology, rodent, Genome project, biology.organism_classification, 030104 developmental biology, whole-genome sequencing, genome assembly, Mammalian genome, 030217 neurology & neurosurgery, Canadian beaver

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1eb7bfd099d71c9e6786e184cd227a2Test
http://g3journal.org/lookup/doi/10.1534/g3.116.038208Test

المؤلفون: Jennifer Crosbie, Rob Nicolson, Tara Paton, Jessica Brian, Peter Szatmari, Russell Schachar, Danielle A. Baribeau, Paul D. Arnold, Alana Iaboni, Christopher Hammill, Annie Dupuis, Stephen W. Scherer, Azadeh Kushki, Stelios Georgiades, Jason P. Lerch, Evdokia Anagnostou

المصدر: Translational Psychiatry, Vol 9, Iss 1, Pp 1-14 (2019)
Paediatrics Publications
Translational Psychiatry

مصطلحات موضوعية: Male, 0301 basic medicine, Obsessive-Compulsive Disorder, medicine.medical_specialty, Adolescent, Autism Spectrum Disorder, Audiology, behavioral disciplines and activities, Amygdala, Article, lcsh:RC321-571, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Neuroimaging, mental disorders, Limbic System, medicine, Humans, Attention deficit hyperactivity disorder, Child, Social Communication Disorder, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Biological Psychiatry, Cerebral Cortex, Ventral striatum, Cognition, Social cue, medicine.disease, Magnetic Resonance Imaging, Psychiatry and Mental health, 030104 developmental biology, medicine.anatomical_structure, Attention Deficit Disorder with Hyperactivity, Autism spectrum disorder, Female, Orbitofrontal cortex, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::380960175f7debabf89d5465a930ebf9Test
https://doi.org/10.1038/s41398-019-0382-0Test

المؤلفون: Nicholas W. Fischer, Guillermo Casallo, Anna Pan, Gavin W. Wilson, Badr Id Said, Daniele Merico, Geneviève Deblois, Jean Gariépy, Nardin Samuel, Roumiana Alexandrova, Thomas J. Hudson, David Malkin, Mathieu Lupien, Tara Paton

المصدر: Oncotarget

مصطلحات موضوعية: p53, 0301 basic medicine, medicine.medical_specialty, Cell Survival, DNA Mutational Analysis, non-coding RNA, Cellular homeostasis, Apoptosis, Genomics, Germline, Epigenesis, Genetic, Transcriptome, 03 medical and health sciences, Cell Line, Tumor, Neoplasms, Molecular genetics, microRNA, medicine, Homeostasis, Humans, Genes, Tumor Suppressor, TP53, Epigenetics, Child, Promoter Regions, Genetic, miR-34A, Cell Proliferation, Genetics, Sequence Analysis, RNA, business.industry, Gene Expression Profiling, Cell Cycle, Infant, Non-coding RNA, 3. Good health, MicroRNAs, 030104 developmental biology, Oncology, Child, Preschool, Tumor Suppressor Protein p53, business, Research Paper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f400c84cde68b05450b648ba2c49400Test
https://doi.org/10.18632/oncotarget.10417Test