المؤلفون: Fahad Paryani, Ji-Sun Kwon, Christopher W. Ng, Kelly Jakubiak, Nacoya Madden, Kenneth Ofori, Alice Tang, Hong Lu, Shengnan Xia, Juncheng Li, Aayushi Mahajan, Shawn M. Davidson, Anna O. Basile, Caitlin McHugh, Jean Paul Vonsattel, Richard Hickman, Michael C. Zody, David E. Housman, James E. Goldman, Andrew S. Yoo, Vilas Menon, Osama Al-Dalahmah

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/8951e53b83a446a78dbb4875a502960b

المؤلفون: Marta Viggiano, Fabiola Ceroni, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Laura Sandoni, Irene Baravelli, Cinzia Cameli, Magali J. Rochat, Alessandra Maresca, Alessandro Vaisfeld, Davide Gentilini, Luciano Calzari, Valerio Carelli, Michael C. Zody, Elena Maestrini, Elena Bacchelli

المصدر: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-15 (2024)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/9acf2625b96d4dc9b71c18093b1268fb

المؤلفون: Satria P. Sajuthi, Jamie L. Everman, Nathan D. Jackson, Benjamin Saef, Cydney L. Rios, Camille M. Moore, Angel C. Y. Mak, Celeste Eng, Ana Fairbanks–Mahnke, Sandra Salazar, Jennifer Elhawary, Scott Huntsman, Vivian Medina, Deborah A. Nickerson, Soren Germer, Michael C. Zody, Gonçalo Abecasis, Hyun Min Kang, Kenneth M. Rice, Rajesh Kumar, Noah A. Zaitlen, Sam Oh, NHLBI Trans–Omics for Precision Medicine (TOPMed) Consortium, José Rodríguez–Santana, Esteban G. Burchard, Max A. Seibold

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/2becd8c53e824b738a9f10d4fbec7c85

المؤلفون: Satria P. Sajuthi, Jamie L. Everman, Nathan D. Jackson, Benjamin Saef, Cydney L. Rios, Camille M. Moore, Angel C. Y. Mak, Celeste Eng, Ana Fairbanks-Mahnke, Sandra Salazar, Jennifer Elhawary, Scott Huntsman, Vivian Medina, Deborah A. Nickerson, Soren Germer, Michael C. Zody, Gonçalo Abecasis, Hyun Min Kang, Kenneth M. Rice, Rajesh Kumar, Noah A. Zaitlen, Sam Oh, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, José Rodríguez-Santana, Esteban G. Burchard, Max A. Seibold

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/f0bfdc317fbf49d288c90aff61c49c7f

المؤلفون: Barun Mathema, Liang Chen, Pengfei Wang, Marcus H. Cunningham, Jose R. Mediavilla, Kar Fai Chow, Yang Luo, Yanan Zhao, Kaelea Composto, Jerry Zuckerman, Michael C. Zody, Nancy Wilson, Annie Lee, Dayna M. Oschwald, Lihong Liu, Sho Iketani, Soren Germer, Samantha Fennessey, Maple Wang, Yael Kramer, Patricia Toole, Tom Maniatis, David D. Ho, David S. Perlin, Barry N. Kreiswirth

المصدر: mBio, Vol 13, Iss 5 (2022)

مصطلحات موضوعية: SARS-CoV-2, variants of concern, spike protein, vaccine, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2150-7511

URL الوصول: https://doaj.org/article/3a7ee6d3a8124173bbb10105a3c49990

المؤلفون: Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J. Mannion, Marta Byrska-Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Benech, Kevin Uguen, Séverine Audebert-Bellanger, Cédric Le Marechal, Claude Férec, Stephanie Efthymiou, Fatima Rahman, Shazia Maqbool, Reza Maroofian, Henry Houlden, Rajeeva Musunuri, Giuseppe Narzisi, Avinash Abhyankar, Riana D. Hunter, Jennifer Akiyama, Lauren E. Fries, Jeffrey K. Ng, Elvisa Mehinovic, Nick Stong, Andrew S. Allen, Diane E. Dickel, Raphael A. Bernier, David U. Gorkin, Len A. Pennacchio, Michael C. Zody, Tychele N. Turner

المصدر: Human Genomics, Vol 15, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: Autism, Neurodevelopmental disorder, Enhancer, Gene regulatory network, EBF3, hs737, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/a0957b4159c64ec8b85c8227ab117a02

المؤلفون: José R. Mediavilla, Tara Lozy, Annie Lee, Justine Kim, Veronica W. Kan, Elizabeth Titova, Ashish Amin, Michael C. Zody, André Corvelo, Dayna M. Oschwald, Amy Baldwin, Samantha Fennessey, Jerry M. Zuckerman, Thomas Kirn, Liang Chen, Yanan Zhao, Kar Fai Chow, Tom Maniatis, David S. Perlin, Barry N. Kreiswirth

المصدر: Viruses, Vol 15, Iss 8, p 1699 (2023)

مصطلحات موضوعية: SARS-CoV-2, COVID-19, pandemic, variants, RT-PCR, sequencing, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1999-4915/15/8/1699; https://doaj.org/toc/1999-4915

URL الوصول: https://doaj.org/article/5345b6fc7daf45348ca77a969c9d9ca6

المؤلفون: Hanley Kingston, Adrienne M. Stilp, William Gordon, Jai Broome, Stephanie M. Gogarten, Hua Ling, John Barnard, Shannon Dugan-Perez, Patrick T. Ellinor, Stacey Gabriel, Soren Germer, Richard A. Gibbs, Namrata Gupta, Kenneth Rice, Albert V. Smith, Michael C. Zody, Scott M. Blackman, Garry Cutting, Michael R. Knowles, Yi-Hui Zhou, Margaret Rosenfeld, Ronald L. Gibson, Michael Bamshad, Alison Fohner, Elizabeth E. Blue

المصدر: HGG Advances, Vol 3, Iss 3, Pp 100117- (2022)

مصطلحات موضوعية: CFTR F508del, population structure, genome-wide association study, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000331; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/904422004e45433aa8eb9faa3da1427a

المؤلفون: Satria P. Sajuthi, Peter DeFord, Yingchun Li, Nathan D. Jackson, Michael T. Montgomery, Jamie L. Everman, Cydney L. Rios, Elmar Pruesse, James D. Nolin, Elizabeth G. Plender, Michael E. Wechsler, Angel C. Y. Mak, Celeste Eng, Sandra Salazar, Vivian Medina, Eric M. Wohlford, Scott Huntsman, Deborah A. Nickerson, Soren Germer, Michael C. Zody, Gonçalo Abecasis, Hyun Min Kang, Kenneth M. Rice, Rajesh Kumar, Sam Oh, Jose Rodriguez-Santana, Esteban G. Burchard, Max A. Seibold

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/5998991851af4757adcf82673111f6e4

المؤلفون: Nikhil Shri Sahajpal, Chi-Yu Jill Lai, Alex Hastie, Ashis K. Mondal, Siavash Raeisi Dehkordi, Caspar I. van der Made, Olivier Fedrigo, Farooq Al-Ajli, Sawan Jalnapurkar, Marta Byrska-Bishop, Rashmi Kanagal-Shamanna, Brynn Levy, Maximilian Schieck, Thomas Illig, Silviu-Alin Bacanu, Janet S. Chou, Adrienne G. Randolph, Amyn M. Rojiani, Michael C. Zody, Catherine A. Brownstein, Alan H. Beggs, Vineet Bafna, Erich D. Jarvis, Alexander Hoischen, Alka Chaubey, Ravindra Kolhe

المصدر: iScience, Vol 25, Iss 2, Pp 103760- (2022)

مصطلحات موضوعية: Genetic sample, Genomics, Virology, Science

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S258900422200030X; https://doaj.org/toc/2589-0042

URL الوصول: https://doaj.org/article/6522ade0da724f48b8c81dc340d11287

المؤلفون: Barun Mathema, Liang Chen, Kar Fai Chow, Yanan Zhao, Michael C. Zody, Jose R. Mediavilla, Marcus H. Cunningham, Kaelea Composto, Annie Lee, Dayna M. Oschwald, Soren Germer, Samantha Fennessey, Kishan Patel, David Wilson, Ann Cassell, Lauren Pascual, Andrew Ip, André Corvelo, Sophia Dar, Yael Kramer, Tom Maniatis, David S. Perlin, Barry N. Kreiswirth

المصدر: Microbiology Spectrum, Vol 9, Iss 3 (2021)

مصطلحات موضوعية: SARS-CoV-2, variants of concern, vaccine, breakthrough, spike protein, COVID-19, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2165-0497

URL الوصول: https://doaj.org/article/a2855b2ea04a42f28084148d70810e11

المؤلفون: Nikhil Shri Sahajpal, Alex R. Hastie, Maximilian Schieck, Ashis K. Mondal, Marc Felde, Caspar I. van der Made, Janet S. Chou, Adrienne G. Randolph, Thomas Illig, Michael C. Zody, Catherine A. Brownstein, Alan H. Beggs, Alexander Hoischen, Alka Chaubey, Ravindra Kolhe

المصدر: Biomolecules, Vol 13, Iss 1, p 133 (2023)

مصطلحات موضوعية: optical genome mapping, COVID-19, neurological complications, rare SVs, genetic predisposition, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-273X/13/1/133; https://doaj.org/toc/2218-273X

URL الوصول: https://doaj.org/article/95a26c6fc8714952844de03576ff847d

المؤلفون: Mayu O. Frank, Takahiko Koyama, Kahn Rhrissorrakrai, Nicolas Robine, Filippo Utro, Anne-Katrin Emde, Bo-Juen Chen, Kanika Arora, Minita Shah, Heather Geiger, Vanessa Felice, Esra Dikoglu, Sadia Rahman, Alice Fang, Vladimir Vacic, Ewa A. Bergmann, Julia L. Moore Vogel, Catherine Reeves, Depinder Khaira, Anthony Calabro, Duyang Kim, Michelle F. Lamendola-Essel, Cecilia Esteves, Phaedra Agius, Christian Stolte, John Boockvar, Alexis Demopoulos, Dimitris G. Placantonakis, John G. Golfinos, Cameron Brennan, Jeffrey Bruce, Andrew B. Lassman, Peter Canoll, Christian Grommes, Mariza Daras, Eli Diamond, Antonio Omuro, Elena Pentsova, Dana E. Orange, Stephen J. Harvey, Jerome B. Posner, Vanessa V. Michelini, Vaidehi Jobanputra, Michael C. Zody, John Kelly, Laxmi Parida, Kazimierz O. Wrzeszczynski, Ajay K. Royyuru, Robert B. Darnell

المصدر: BMC Medical Genomics, Vol 12, Iss 1, Pp 1-16 (2019)

مصطلحات موضوعية: Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12920-019-0500-0; https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/11a5273709844f08a3cc53b25ce39717

المؤلفون: Liang Chen, Michael C. Zody, Clara Di Germanio, Rachel Martinelli, Jose R. Mediavilla, Marcus H. Cunningham, Kaelea Composto, Kar Fai Chow, Milena Kordalewska, André Corvelo, Dayna M. Oschwald, Samantha Fennessey, Marygrace Zetkulic, Sophia Dar, Yael Kramer, Barun Mathema, Soren Germer, Mars Stone, Graham Simmons, Michael P. Busch, Tom Maniatis, David S. Perlin, Barry N. Kreiswirth

المصدر: mSphere, Vol 6, Iss 4 (2021)

مصطلحات موضوعية: Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2379-5042

URL الوصول: https://doaj.org/article/435e559185594cb0b1ba92dd648cebd3

المؤلفون: Jian Carrot-Zhang, Xiaotong Yao, Siddhartha Devarakonda, Aditya Deshpande, Jeffrey S. Damrauer, Tiago Chedraoui Silva, Christopher K. Wong, Hyo Young Choi, Ina Felau, A. Gordon Robertson, Mauro A.A. Castro, Lisui Bao, Esther Rheinbay, Eric Minwei Liu, Tuan Trieu, David Haan, Christina Yau, Toshinori Hinoue, Yuexin Liu, Ofer Shapira, Kiran Kumar, Karen L. Mungall, Hailei Zhang, Jake June-Koo Lee, Ashton Berger, Galen F. Gao, Binyamin Zhitomirsky, Wen-Wei Liang, Meng Zhou, Sitapriya Moorthi, Alice H. Berger, Eric A. Collisson, Michael C. Zody, Li Ding, Andrew D. Cherniack, Gad Getz, Olivier Elemento, Christopher C. Benz, Josh Stuart, J.C. Zenklusen, Rameen Beroukhim, Jason C. Chang, Joshua D. Campbell, D. Neil Hayes, Lixing Yang, Peter W. Laird, John N. Weinstein, David J. Kwiatkowski, Ming S. Tsao, William D. Travis, Ekta Khurana, Benjamin P. Berman, Katherine A. Hoadley, Nicolas Robine, Matthew Meyerson, Ramaswamy Govindan, Marcin Imielinski

المصدر: Cell Reports, Vol 34, Iss 8, Pp 108784- (2021)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124721000978; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/4264da604a8b4596a7e8b99d914ad26d

المؤلفون: Allison A. Regier, Yossi Farjoun, David E. Larson, Olga Krasheninina, Hyun Min Kang, Daniel P. Howrigan, Bo-Juen Chen, Manisha Kher, Eric Banks, Darren C. Ames, Adam C. English, Heng Li, Jinchuan Xing, Yeting Zhang, Tara Matise, Goncalo R. Abecasis, Will Salerno, Michael C. Zody, Benjamin M. Neale, Ira M. Hall

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/0ebc7f3c469f4ca081434ec64d244d5f

المؤلفون: Mayu O. Frank, Takahiko Koyama, Kahn Rhrissorrakrai, Nicolas Robine, Filippo Utro, Anne-Katrin Emde, Bo-Juen Chen, Kanika Arora, Minita Shah, Heather Geiger, Vanessa Felice, Esra Dikoglu, Sadia Rahman, Xiaolan Fang, Vladimir Vacic, Ewa A. Bergmann, Julia L. Moore Vogel, Catherine Reeves, Depinder Khaira, Anthony Calabro, Duyang Kim, Michelle F. Lamendola-Essel, Cecilia Esteves, Phaedra Agius, Christian Stolte, John Boockvar, Alexis Demopoulos, Dimitris G. Placantonakis, John G. Golfinos, Cameron Brennan, Jeffrey Bruce, Andrew B. Lassman, Peter Canoll, Christian Grommes, Mariza Daras, Eli Diamond, Antonio Omuro, Elena Pentsova, Dana E. Orange, Stephen J. Harvey, Jerome B. Posner, Vanessa V. Michelini, Vaidehi Jobanputra, Michael C. Zody, John Kelly, Laxmi Parida, Kazimierz O. Wrzeszczynski, Ajay K. Royyuru, Robert B. Darnell

المصدر: BMC Medical Genomics, Vol 12, Iss 1, Pp 1-1 (2019)

مصطلحات موضوعية: Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12920-019-0563-y; https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/1d97177535aa4c4aae7304b51c8609fd

المؤلفون: Eran Bacharach, Nischay Mishra, Thomas Briese, Michael C. Zody, Japhette Esther Kembou Tsofack, Rachel Zamostiano, Asaf Berkowitz, James Ng, Adam Nitido, André Corvelo, Nora C. Toussaint, Sandra Cathrine Abel Nielsen, Mady Hornig, Jorge Del Pozo, Toby Bloom, Hugh Ferguson, Avi Eldar, W. Ian Lipkin

المصدر: mBio, Vol 7, Iss 2 (2016)

مصطلحات موضوعية: Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2150-7511

URL الوصول: https://doaj.org/article/50b88d96a40f4c0ead256d47f3512cd7

المؤلفون: Evin M. Padhi (11129998), Tristan J. Hayeck (11130001), Zhang Cheng (802884), Sumantra Chatterjee (11130004), Brandon J. Mannion (11130007), Marta Byrska-Bishop (11130010), Marjolaine Willems (8882330), Lucile Pinson (11130013), Sylvia Redon (11130016), Caroline Benech (204323), Kevin Uguen (11130019), Séverine Audebert-Bellanger (10930066), Cédric Le Marechal (11130022), Claude Férec (204332), Stephanie Efthymiou (4569349), Fatima Rahman (11130025), Shazia Maqbool (11130028), Reza Maroofian (5237852), Henry Houlden (110428), Rajeeva Musunuri (11130031), Giuseppe Narzisi (107365), Avinash Abhyankar (140166), Riana D. Hunter (5320184), Jennifer Akiyama (11130034), Lauren E. Fries (11130037), Jeffrey K. Ng (11130040), Elvisa Mehinovic (11130043), Nick Stong (11130046), Andrew S. Allen (11130049), Diane E. Dickel (4379629), Raphael A. Bernier (5016758), David U. Gorkin (8571390), Len A. Pennacchio (10721833), Michael C. Zody (11130052), Tychele N. Turner (11130055)

مصطلحات موضوعية: Genetics, Autism, Neurodevelopmental disorder, Enhancer, Gene regulatory network, EBF3, hs737, Genome, Variant, De novo

Relation: https://figshare.com/articles/journal_contribution/Additional_file_2_of_Coding_and_noncoding_variants_in_EBF3_are_involved_in_HADDS_and_simplex_autism/14978464

الاتاحة: https://doi.org/10.6084/m9.figshare.14978464.v1

المؤلفون: Jana Ebler, Peter Ebert, Wayne E. Clarke, Tobias Rausch, Peter A. Audano, Torsten Houwaart, Yafei Mao, Jan O. Korbel, Evan E. Eichler, Michael C. Zody, Alexander T. Dilthey, Tobias Marschall

المصدر: Nature Genetics. 54:518-525

مصطلحات موضوعية: Genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e01a7e75e33367375aa221e2ab1774b5
https://doi.org/10.1038/s41588-022-01043-w