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1دورية أكاديمية
المؤلفون: Kevin Booth, Sharayu Jangam, Martin Man Chun Chui, Kayla Treat, Lorenzo Graziani, Alessia Soldano, Kerry White, Celanie Christensen, Ty Lynnes, Shinya Yamamoto, Oguz Kanca, Mandy Tsang, Sally Lynch, Sureni Mullegama, Julia Baptista, Daniela Iancu, Shelag Joss, Christopher CY Mak, Anna Kwong, Hugo Bellen, Erin Conboy, Remo Sanges, Michael F. Wangler, Brian Hon-Yin Chung, Francesco Vetrini
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101494- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S294977442400640XTest; https://doaj.org/toc/2949-7744Test
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2دورية أكاديمية
المؤلفون: Hillary K. Graves, Sharayu Jangam, Kai Li Tan, Antonella Pignata, Elaine S. Seto, Shinya Yamamoto, Michael F. Wangler
المصدر: G3: Genes, Genomes, Genetics, Vol 10, Iss 1, Pp 69-77 (2020)
مصطلحات موضوعية: drosophila, peroxisomes, brd4, fs(1)h, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2160-1836Test
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3دورية أكاديمية
المؤلفون: Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H. Willemsen, Bregje W. van Bon, Tuula Rinne, Servi J. C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Min Long, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna J. Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Pawel Stankiewicz, Kristin Herman, University of Washington Center for Mendelian Genomics, Saadet Mercimek-Andrews, Jane Juusola, Amy B. Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gecz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia K. Bijlsma, Mariëtte J. V. Hoffer, Claudia A. L. Ruivenkamp, Stefano Sartori, Fan Xia, Jill A. Rosenfeld, Raphael A. Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P. A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler
المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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المؤلفون: Michael F. Wangler, Barbara Lesko, Rejwi Dahal, Sharayu Jangam, Pradnya Bhadane, Theodore E. Wilson, Molly McPheron, Marcus James Miller
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::df951e6e76fdf370a6cdc96b1d2c14d2Test
https://doi.org/10.2139/ssrn.4429049Test -
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المؤلفون: Jonathan C. Andrews, Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia Tifft, Ellen F. Macnamara, Bianca E. Russell, Lee-kai Wang, Stanley F. Nelson, Hugo J. Bellen, Shinya Yamamoto, May Christine V. Malicdan, Michael F. Wangler
المصدر: Genetics in Medicine. :100833
مصطلحات موضوعية: Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bc136db301799c5ddd4a6e292bd651a4Test
https://doi.org/10.1016/j.gim.2023.100833Test -
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المؤلفون: Paul C. Marcogliese, Samantha L. Deal, Jonathan Andrews, J. Michael Harnish, V. Hemanjani Bhavana, Hillary K. Graves, Sharayu Jangam, Xi Luo, Ning Liu, Danqing Bei, Yu-Hsin Chao, Brooke Hull, Pei-Tseng Lee, Hongling Pan, Pradnya Bhadane, Mei-Chu Huang, Colleen M. Longley, Hsiao-Tuan Chao, Hyung-lok Chung, Nele A. Haelterman, Oguz Kanca, Sathiya N. Manivannan, Linda Z. Rossetti, Ryan J. German, Amanda Gerard, Eva Maria Christina Schwaibold, Sarah Fehr, Renzo Guerrini, Annalisa Vetro, Eleina England, Chaya N. Murali, Tahsin Stefan Barakat, Marieke F. van Dooren, Martina Wilke, Marjon van Slegtenhorst, Gaetan Lesca, Isabelle Sabatier, Nicolas Chatron, Catherine A. Brownstein, Jill A. Madden, Pankaj B. Agrawal, Boris Keren, Thomas Courtin, Laurence Perrin, Melanie Brugger, Timo Roser, Steffen Leiz, Frederic Tran Mau-Them, Julian Delanne, Elena Sukarova-Angelovska, Slavica Trajkova, Erik Rosenhahn, Vincent Strehlow, Konrad Platzer, Roberto Keller, Lisa Pavinato, Alfredo Brusco, Jill A. Rosenfeld, Ronit Marom, Michael F. Wangler, Shinya Yamamoto
المساهمون: Clinical Genetics
المصدر: Cell Reports, 38(11):110517. Cell Press
مصطلحات موضوعية: humanization, T2A-GAL4, Autism Spectrum Disorder, Glycine, undiagnosed diseases, autism spectrum disorder, Drosophila melanogaster, functional genomics, GLRA2, GluClalpha, missense variants, rare genetic diseases, TG4, Animals, Genetic Predisposition to Disease, Humans, Autistic Disorder, Drosophila, Neurodevelopmental Disorders, Receptors, Glycine, General Biochemistry, Genetics and Molecular Biology, Receptors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444111bda1ed722613ad9800aa33c493Test
https://doi.org/10.1016/j.celrep.2022.110517Test -
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المؤلفون: Kayla Treat, Sharayu Jangam, Shinya Yamamoto, Kerry White, Oguz Kanca, Celanie Christensen, Sally Lynch, Julia Baptista, Mandy HY. Tsang, Kristy Jay, Brian HY. Chung, Liz YP. Yuen, Martin MC. Chui, Hugo Bellen, Michael Wangler, Erin Conboy, Francesco Vetrini
المصدر: Genetics in Medicine. 24:S257-S258
مصطلحات موضوعية: Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::03addd0f780bb24478761ab29f537bb9Test
https://doi.org/10.1016/j.gim.2022.01.445Test -
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المؤلفون: Pei-Tseng Lee, Hyunglok Chung, J. Michael Harnish, Nicolas Chatron, Marieke F. van Dooren, Colleen M. Longley, Ning Liu, Michael F. Wangler, Sharayu Jangam, Sathiya N. Manivannan, Hsiao-Tuan Chao, Shinya Yamamoto, Hongling Pan, Xi Luo, Alfredo Brusco, Isabelle Sabatier, Martina Wilke, Oguz Kanca, Lisa Pavinato, Eleina M. England, Eva Maria Christina Schwaibold, Danqing Bei, Ronit Marom, Annalisa Vetro, Yu-Hsin Chao, Paul C. Marcogliese, Tahsin Stefan Barakat, Jill A. Rosenfeld, Gaetan Lesca, Samantha L. Deal, V Hemanjani Bhavana, Pankaj B. Agrawal, Brooke Hull, Amanda Gerard, Catherine A. Brownstein, Linda Z. Rossetti, Hillary K. Graves, Jonathan C. Andrews, Chaya N. Murali, Renzo Guerrini, Jill A. Madden, Nele A Haelterman, Roberto Keller, Marjon van Slegtenhorst
مصطلحات موضوعية: Genetics, Candidate gene, mental disorders, medicine, Autism, Missense mutation, Biology, medicine.disease, Gene, Phenotype, Gene Discovery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::15687904b86384418e0e2659f5215cf8Test
https://doi.org/10.1101/2020.12.30.424813Test -
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المؤلفون: Charles E. Schwartz, Marjolein H. Willemsen, Saadet Mercimek-Andrews, Amy B. Wilfert, Hugo J. Bellen, Alexander P.A. Stegmann, Tjitske Kleefstra, Pawel Stankiewicz, Benjamin Büttner, Hailun Ni, Rongjuan Zhao, Rami Abou Jamra, Mariëtte J.V. Hoffer, Kristin Herman, Marjan M. Weiss, Heather C Mefford, Huidan Wu, Deanna J. Erwin, Zhengmao Hu, Claudia A. L. Ruivenkamp, Helger G. Yntema, Cindy Colson, Alessandra Murgia, Maria Bottitta, Jane Juusola, Tianyun Wang, Stephen M. Malone, Kun Xia, Baosheng Zhu, Nicolas Richard, Jozef Gecz, Elisa Bettella, Tuula Rinne, Raphael Bernier, Emilia K. Bijlsma, Michael F. Wangler, Shinya Yamamoto, Brigid M. Regan, Sharayu Jangam, Bregje W.M. van Bon, Jill A. Rosenfeld, Kendra Hoekzema, Cenying Liu, Shweta U. Dhar, Stefano Sartori, Boris Keren, Hui Guo, Lucia Castiglia, Servi J. C. Stevens, Corrado Romano, Min Long, Tomasz J. Nowakowski, Evan E. Eichler, Jan Maarten Cobben, Alison M. Muir, Lisa Emrick, Quinten Waisfisz, Wenjing Zhao, Jonathan C. Andrews, Ingrid E. Scheffer, Bing Bai, Madelyn A. Gillentine, Paul C. Marcogliese, Fan Xia, Han G. Brunner, Alexandra Afenjar
المساهمون: Academic Medical Center, MUMC+: DA KG Polikliniek (9), MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA Klinische Genetica (5), Klinische Genetica, Chinese Academy of Forestry, University Hospital of Padua, Baylor College of Medicine (BCM), Baylor University, Texas Children's Hospital [Houston, USA], Central South University [Changsha], University of California, Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Department of Genome Sciences [Seattle] (GS), University of Washington [Seattle], Radboud University Medical Center [Nijmegen], Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], Ecosystèmes méditerranéens et risques (UR EMAX), Centre national du machinisme agricole, du génie rural, des eaux et forêts (CEMAGREF), Service de Génétique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Normandie Université (NU)-Normandie Université (NU), The Greenwood Genetic Center, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione 'Istituto Neurologico Nazionale C. Mondino', Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Kunming University of Science and Technology (KMUST), The Hospital for sick children [Toronto] (SickKids), University of Toronto, GeneDx [Gaithersburg, MD, USA], Universität Leipzig [Leipzig], University of Melbourne, Queensland Institute of Medical Research, University of Adelaide, Emma Children’s Hospital, Vrije Universiteit Amsterdam [Amsterdam] (VU), Leiden University Medical Center (LUMC), The Chinese University of Hong Kong [Hong Kong], Human genetics
المصدر: Guo, H, Bettella, E, Marcogliese, P C, Zhao, R, Andrews, J C, Nowakowski, T J, Gillentine, M A, Hoekzema, K, Wang, T, Wu, H, Jangam, S, Liu, C, Ni, H, Willemsen, M H, van Bon, B W, Rinne, T, Stevens, S J C, Kleefstra, T, Brunner, H G, Yntema, H G, Long, M, Zhao, W, Hu, Z, Colson, C, Richard, N, Schwartz, C E, Romano, C, Castiglia, L, Bottitta, M, Dhar, S U, Erwin, D J, Emrick, L, Keren, B, Afenjar, A, Zhu, B, Bai, B, Stankiewicz, P, Herman, K, Nickerson, D A, Bamshad, M J, Mercimek-Andrews, S, Juusola, J, Wilfert, A B, Abou Jamra, R, Büttner, B, Mefford, H C, Muir, A M, Scheffer, I E, Regan, B M, Malone, S, Gecz, J, Cobben, J, Weiss, M M, Waisfisz, Q, Bijlsma, E K, Hoffer, M J V, Ruivenkamp, C A L, Sartori, S, Xia, F, Rosenfeld, J A, Bernier, R A, Wangler, M F, Yamamoto, S, Xia, K, Stegmann, A P A, Bellen, H J, Murgia, A, Eichler, E E & University of Washington Center for Mendelian Genomics 2019, ' Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders ', Nature Communications, vol. 10, no. 1, 4679 . https://doi.org/10.1038/s41467-019-12435-8Test
Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)
Nature Communications, 10
Nature Communications, 10. NATURE PUBLISHING GROUP
Nature communications, 10(1):4679. Nature Publishing Group
Nature Communications, 10:4679. Nature Publishing Group
Nature Communications
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.4679. ⟨10.1038/s41467-019-12435-8⟩
Nature Communications, 10(1):4679. Nature Publishing Group UKمصطلحات موضوعية: 0301 basic medicine, Proband, Male, Genetics of the nervous system, Developmental Disabilities, General Physics and Astronomy, Muscle Proteins, medicine.disease_cause, ANNOTATION, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Whole Exome Sequencing, Craniofacial Abnormalities, Epilepsy, 0302 clinical medicine, Postsynaptic potential, Intellectual disability, Drosophila Proteins, lcsh:Science, Child, SYNAPTIC DEVELOPMENT, Neurons, Mutation, Multidisciplinary, Behavior, Animal, Mental Disorders, Brain, Drosophila melanogaster, Child, Preschool, Behavioural genetics, Excitatory postsynaptic potential, Female, Neuroglia, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, GENES, Adolescent, Science, Nerve Tissue Proteins, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Young Adult, All institutes and research themes of the Radboud University Medical Center, RESOURCE, Intellectual Disability, Exome Sequencing, medicine, Animals, Humans, Language Development Disorders, Autistic Disorder, Psychiatry, Preschool, [SDV.GEN]Life Sciences [q-bio]/Genetics, Behavior, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Animal, MEMORY, Membrane Proteins, Proteins, General Chemistry, medicine.disease, FRAMEWORK, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, DE-NOVO MUTATIONS, Neurodevelopmental Disorders, Neuronal development, Autism, lcsh:Q, business, Postsynaptic density, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cef65fc059436750efb3c5a1fb922c24Test
https://research.vumc.nl/en/publications/42063201-c6d1-4097-87df-553d6c02bdaeTest -
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المؤلفون: Michael Chou, Ryan Conder, Sharayu Jangam, Nicholas Harden, Todd G. Nystul, Stephanie Vlachos
مصطلحات موضوعية: endocrine system, Mutant, Cell, Ovary, Models, Biological, Germline, Ovarian Follicle, Cell polarity, medicine, Animals, Drosophila Proteins, Stem Cell Niche, Germaria, Molecular Biology, Ovum, biology, Cell Polarity, Anatomy, biology.organism_classification, Stem Cells and Regeneration, Phenotype, Cell biology, medicine.anatomical_structure, Drosophila melanogaster, p21-Activated Kinases, Mutation, Female, Stem cell, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3f7c91554835c4ba5dd03c868528426Test
https://europepmc.org/articles/PMC6514404Test/