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1دورية أكاديمية
المؤلفون: Seungtai Yoon, Adriana Munoz, Boris Yamrom, Yoon-ha Lee, Peter Andrews, Steven Marks, Zihua Wang, Catherine Reeves, Lara Winterkorn, Abba M. Krieger, Andreas Buja, Kith Pradhan, Michael Ronemus, Kristin K. Baldwin, Dan Levy, Michael Wigler, Ivan Iossifov
المصدر: Communications Biology, Vol 4, Iss 1, Pp 1-10 (2021)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2399-3642
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المؤلفون: Mathew Wroten, Seungtai Yoon, Peter Andrews, Boris Yamrom, Michael Ronemus, Andreas Buja, Abba M. Krieger, Dan Levy, Kenny Ye, Michael Wigler, Ivan Iossifov
المصدر: Cell Genomics. :100319
مصطلحات موضوعية: Genetics, Biochemistry, Genetics and Molecular Biology (miscellaneous)
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المؤلفون: Ferrah London, Inessa Hakker, Peter Andrews, Vaidehi Jobanputra, Michael Ronemus, Kazimierz O. Wrzeszczynski, Lukasz Kozon, Avinash Abhyankar, Vanessa Felice, Dino Robinson
المصدر: J Mol Diagn
مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, Microarray, Autism Spectrum Disorder, Developmental Disabilities, Concordance, Copy number analysis, Sequence Homology, Computational biology, Biology, Sensitivity and Specificity, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Limit of Detection, Intellectual Disability, Humans, Abnormalities, Multiple, Genetic Testing, Copy-number variation, Sequence (medicine), Whole genome sequencing, Whole Genome Sequencing, Genome, Human, Microarray analysis techniques, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Regular Article, Sequence Analysis, DNA, Microarray Analysis, 030104 developmental biology, 030220 oncology & carcinogenesis, Molecular Medicine
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المؤلفون: Michael Wigler, Dan Levy, Adriana Muñoz, Zihua Wang, Ivan Iossifov, Seungtai Yoon, Steven Marks, Catherine Reeves, Michael Ronemus, Kith Pradhan, Kristin K. Baldwin, Peter Andrews, Lara Heermans Winterkorn, Boris Yamrom, Abba M. Krieger, Andreas Buja, Yoon-ha Lee
المصدر: Communications Biology
Communications Biology, Vol 4, Iss 1, Pp 1-10 (2021)مصطلحات موضوعية: Adult, Male, QH301-705.5, Autism Spectrum Disorder, New York, Medicine (miscellaneous), Biology, behavioral disciplines and activities, Article, General Biochemistry, Genetics and Molecular Biology, Young Adult, Genetic drift, Risk Factors, mental disorders, medicine, Humans, Coding region, Genetic Predisposition to Disease, Multiplex, Biology (General), Autistic Disorder, Exome sequencing, Whole genome sequencing, Genetics, Incidence, Low resolution, De novo mutation, Middle Aged, Autism spectrum disorders, medicine.disease, Mutation, Next-generation sequencing, Autism, Female, General Agricultural and Biological Sciences
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5De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
المؤلفون: Josh Gorham, David M. McKean, Stephen Sanders, Elizabeth Goldmuntz, Francesc López-Giráldez, Angela Romano-Adesman, Kaya Bilguvar, James S. Ware, Jonathan G. Seidman, Mark J. Daly, Amy E. Roberts, Konrad J. Karczewski, J. William Gaynor, Richard P. Lifton, Christine E. Seidman, Mark W. Russell, Hongjian Qi, Steven R. DePalma, Jonathan R. Kaltman, Michael Ronemus, Badri N. Vardarajan, Alessandro Giardini, Ivan Iossifov, Roger E. Breitbart, Jason Homsy, Shrikant Mane, Richard B. Kim, Wendy K. Chung, George A. Porter, Samir Zaidi, Hiroko Wakimoto, Jane W. Newburger, Bruce D. Gelb, Kaitlin E. Samocha, Lijiang Ma, Martina Brueckner, Yufeng Shen, Seema Mital, John E. Deanfield, Sheng Chih Jin, Irina Tikhonova
المصدر: Science. 350:1262-1266
مصطلحات موضوعية: Genetics, 0303 health sciences, Mutation, Multidisciplinary, Heart disease, 030204 cardiovascular system & hematology, Biology, Bioinformatics, medicine.disease_cause, medicine.disease, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, RNA splicing, medicine, Transcriptional regulation, Chromatin modification, cardiovascular diseases, Gene, De novo mutations, Exome sequencing, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4e461e6bf887216791adccac7e7818af
https://doi.org/10.1126/science.aac9396 -
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المؤلفون: Stephen Sanders, Deborah A. Nickerson, Michael Ronemus, Luis E. Gonzalez, Michael F. Walker, Kali Witherspoon, Shan Dong, Niklas Krumm, Jeffrey D. Mandell, Catherine A.W. Sullivan, Laura Vives, Giuseppe Narzisi, Boris Yamrom, Brian J. O'Roak, A. Jeremy Willsey, Jude Kendall, Jay Shendure, Karynne E. Patterson, Ewa A. Grabowska, Jeanselle Dea, Ivan Iossifov, Michael Wigler, Inessa Hakker, Michael C. Schatz, Dan Levy, Ertugrul Dalkic, Zainulabedin Waqar, Bryan W. Paeper, Beicong Ma, Jennifer Troge, Kenny Ye, Matthew W. State, Anthony Leotta, Peter Andrews, Linda Rodgers, Zihua Wang, Yoon-ha Lee, Holly A.F. Stessman, Seungtai Yoon, Evan E. Eichler, Joshua D. Smith, Steven Marks, Michael T. Murtha, Julie Rosenbaum, Liping Wei, Shrikant Mane, W. Richard McCombie
المساهمون: Zonguldak Bülent Ecevit Üniversitesi
المصدر: Nature. 515:216-221
مصطلحات موضوعية: Genetics, Mutation, Multidisciplinary, SYNGAP1, Biology, medicine.disease, Bioinformatics, medicine.disease_cause, Autism spectrum disorder, medicine, Missense mutation, Autism, Copy-number variation, Exome, Exome sequencing
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المؤلفون: Jason Homsy, Elizabeth Goldmuntz, Stephen Sanders, Ryan Golhar, Kaoru Ito, Badri N. Vardarajan, Richard P. Lifton, Peter White, Wendy K. Chung, Michael Ronemus, Matthew W. State, Laura Rodriguez-Murillo, Steven R. DePalma, Jeremy Leipzig, Dorothy Warburton, Hakon Hakonarson, Menachem Fromer, Ivan Iossifov, Alexander G. Bick, Boris Yamrom, Jonathan R. Kaltman, Erica Mazaika, Christine E. Seidman, Martina Brueckner, Jonathan G. Seidman, Michael J. Italia, A. Jeremy Willsey, Bruce D. Gelb, Yufeng Shen, Joseph T. Glessner
المصدر: Circulation research, vol 115, iss 10
مصطلحات موضوعية: DNA copy number variations, single nucleotide, Physiology, Molecular Sequence Data, Clinical Sciences, Single-nucleotide polymorphism, Genomics, Cardiorespiratory Medicine and Haematology, Biology, Cardiovascular, polymorphism, law.invention, Cohort Studies, Pathogenesis, Congenital, Gene Frequency, law, genomics, Genetics, Humans, 2.1 Biological and endogenous factors, Gene Regulatory Networks, Exome, Copy-number variation, Aetiology, Exome sequencing, Polymerase chain reaction, Heart Defects, Pediatric, Human Genome, Odds ratio, Heart Disease, Cardiovascular System & Hematology, Case-Control Studies, Congenital Structural Anomalies, microarray analysis, Cardiology and Cardiovascular Medicine
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6def57472b511f1f111cb9ae8a1a48b0
https://doi.org/10.1161/circresaha.115.304458 -
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المؤلفون: Dan Levy, Michael Wigler, Zihua Wang, Vijay Kumar, Julie Rosenbaum, Talitha Forcier, Michael Ronemus
مصطلحات موضوعية: Genetics, 0303 health sciences, 03 medical and health sciences, 0302 clinical medicine, Data sequences, Complementary DNA, Genomics, Biology, Cluster analysis, 030217 neurology & neurosurgery, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d66922273d2ab713ba6db7f8d11b78a0
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المؤلفون: Michael Wigler, Michael Ronemus, Ivan Iossifov, Dan Levy
المصدر: Nature Reviews Genetics. 15:133-141
مصطلحات موضوعية: Male, Genetics, Models, Genetic, Intelligence, Biology, medicine.disease, behavioral disciplines and activities, Personality disorders, Sex Factors, Child Development Disorders, Pervasive, Mutation, mental disorders, Genetic model, medicine, Humans, Autism, Female, Genetic Predisposition to Disease, Heritability of autism, Identification (biology), Child, Molecular Biology, Genetics (clinical), De novo mutations
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10دورية أكاديمية
المؤلفون: Ivan Iossifov, Brian J. O'Roak, Stephan J. Sanders, Michael Ronemus, Niklas Krumm, Dan Levy, Holly A. Stessman, Kali T. Witherspoon, Laura Vives, Karynne E. Patterson, Joshua D. Smith, Brya
المصدر: Nature, Nature. 515(7526):216-221