المؤلفون: Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj

المصدر: HGG Advances, Vol 4, Iss 1, Pp 100168- (2023)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000860; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/ddf394ee2a824e889ca80fd9964b128c

المؤلفون: Hsin-Ti Lin, Yazmin Enchautegui-Colon, Yu-Ren Huang, Chelsea Zimmerman, Danielle DeMarzo, Anne Chun-Hui Tsai

المصدر: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100942- (2022)

مصطلحات موضوعية: Carbamoyl phosphate synthetase 1 deficiency, Urea cycle disorder, Nacetylglutamate synthetase deficiency, Hyperammonemia, Glutamine, Alphaketoglutarate, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922001021; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/27486de32557496ba30b190a713d7219

المؤلفون: Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj

المصدر: HGG Advances, Vol 3, Iss 3, Pp 100102- (2022)

مصطلحات موضوعية: PHF8, X-linked intellectual disability, orofacial clefting, epigenetic gene regulation, histone demethylation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000185; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/a51bea96ddd1445fa536cbf3b76cb27c

المؤلفون: Anne Chun-Hui Tsai, Hsin-Ti Lin, Maxwell Chou, Jessica Bolen, Chelsea Zimmerman, Danielle DeMarzo, Yazmin Enchautegui-Colon

المصدر: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100859- (2022)

مصطلحات موضوعية: Isovaleric acidemia, Hyperammonemia, Carglumic acid, Ammonul, Bone marrow suppression, Granulocyte-colony stimulating factor, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000192; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/f44337c0b363486d8daf0748fc12e319

المؤلفون: Kami Wolfe Schneider, Adam L. Green, Thomas R. Caulfield, Gregory A. Norris, Anne Chun hui Tsai, Yuan Haw Wu

المصدر: Cancer Genetics. :18-24

مصطلحات موضوعية: Male, Cancer Research, Cell signaling, Biology, Germline, Immunophenotyping, 03 medical and health sciences, 0302 clinical medicine, Protein Domains, Neoplasms, hemic and lymphatic diseases, Glioma, Genetics, medicine, Humans, Proto-Oncogene Proteins c-cbl, Child, Molecular Biology, Gene, Germ-Line Mutation, chemistry.chemical_classification, DNA ligase, Infant, Myeloid leukemia, Cancer, medicine.disease, Protein ubiquitination, Pedigree, Leukemia, Myeloid, Acute, chemistry, Child, Preschool, 030220 oncology & carcinogenesis, Cancer research, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f90a721c80bc1ba1ec7de4a58ac7b0cf
https://doi.org/10.1016/j.cancergen.2021.01.008

المؤلفون: Andrew K, Sobering, Laura M, Bryant, Dong, Li, Julie, McGaughran, Isabelle, Maystadt, Stephanie, Moortgat, John M, Graham, Arie, van Haeringen, Claudia, Ruivenkamp, Roos, Cuperus, Julie, Vogt, Jenny, Morton, Charlotte, Brasch-Andersen, Maria, Steenhof, Lars Kjærsgaard, Hansen, Élodie, Adler, Stanislas, Lyonnet, Veronique, Pingault, Marlin, Sandrine, Alban, Ziegler, Tyhiesia, Donald, Beverly, Nelson, Brandon, Holt, Oleksandra, Petryna, Helen, Firth, Kirsty, McWalter, Jacob, Zyskind, Aida, Telegrafi, Jane, Juusola, Richard, Person, Michael J, Bamshad, Dawn, Earl, Anne Chun-Hui, Tsai, Katherine R, Yearwood, Elysa, Marco, Catherine, Nowak, Jessica, Douglas, Hakon, Hakonarson, Elizabeth J, Bhoj

المصدر: HGG advances. 3(3)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c452bdbda862631d8b909d28ffff1bef
https://pubmed.ncbi.nlm.nih.gov/36583168

المؤلفون: Molly C Schroeder, Maren T. Scheuner, Elaine Maria Pereira, Jun Shen, David T. Miller, Acmg Professional Practice, Scott E. Hickey, Jennifer Malinowski, Jennifer L Gannon, Laurie A. Demmer, Anne Chun-Hui Tsai

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, 030105 genetics & heredity, systematic evidence review, DNA sequencing, 03 medical and health sciences, Quality of life, Exome Sequencing, Intellectual disability, medicine, Humans, Exome, Guideline development, In patient, Child, Genetics (clinical), congenital anomalies, business.industry, Chromosome Mapping, medicine.disease, Evidence based review, ACMG Systematic Evidence Review, 030104 developmental biology, intellectual disability, Quality of Life, business, Psychosocial, clinical genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::974b05a04f4e7520421500bf3c8e9a1e
https://doi.org/10.1038/s41436-020-0771-z

المؤلفون: Perrine Charles, Kathleen Brown, Isabelle Thiffault, Emily Alderman, Uwe Kornak, Shuxi Liu, Xin Wang, Carol J Saunders, Carrie Costin, Erin Torti, Muhammad Zafar, Elysa J. Marco, S. Fehr, Kimberly Foss, Lara Segebrecht, Aida Telegrafi, Denise Horn, Thoa K. Ha, Maxime Cadieux-Dion, Sylvia Stockler-Ipsiroglu, Keely M Fitzgerald, Emily Fleming, Nadja Ehmke, Anne Chun-Hui Tsai, Yue Si, Tracy Cartwright, Ghayda M. Mirzaa, Kirsty McWalter, Boris Keren, Eric T. Rush, Yanmin Chen, Gabriele Hildebrand, Max Schubach, Anne Slavotinek, Cornelius F. Boerkoel, Simone Race, Marie T. McDonald, Björn Fischer-Zirnsak

المصدر: The American Journal of Human Genetics. 105:631-639

مصطلحات موضوعية: Male, Notch signaling pathway, Haploinsufficiency, Ligands, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Report, Exome Sequencing, Intellectual disability, Genetics, medicine, Humans, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, business.industry, Calcium-Binding Proteins, Membrane Proteins, medicine.disease, Pedigree, Neurodevelopmental Disorders, Autism spectrum disorder, Autism, Female, business, Brain morphogenesis, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c8b030befe4d857e2885b2463724650
https://doi.org/10.1016/j.ajhg.2019.07.002

المؤلفون: Anne Chun-Hui, Tsai, Hsin-Ti, Lin, Maxwell, Chou, Jessica, Bolen, Chelsea, Zimmerman, Danielle, DeMarzo, Yazmin, Enchautegui-Colon

المصدر: Molecular genetics and metabolism reports. 31

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::2aa4a298033e139dbc0e397a68ea237e
https://pubmed.ncbi.nlm.nih.gov/35782626

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.2020.10.002

مصطلحات 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/