Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Rebecca Reimers"'
Autor:
Lisa Hui, Katie Ellis, Dora Mayen, Mark D. Pertile, Rebecca Reimers, Luming Sun, Joris Vermeesch, Neeta L. Vora, Lyn S. Chitty
Publikováno v:
Prenatal Diagnosis.
Autor:
Hong Gao, Tobias Hamp, Jeffrey Ede, Joshua G. Schraiber, Jeremy McRae, Moriel Singer-Berk, Yanshen Yang, Anastasia Dietrich, Petko Fiziev, Lukas Kuderna, Laksshman Sundaram, Yibing Wu, Aashish Adhikari, Yair Field, Chen Chen, Serafim Batzoglou, Francois Aguet, Gabrielle Lemire, Rebecca Reimers, Daniel Balick, Mareike C. Janiak, Martin Kuhlwilm, Joseph D. Orkin, Shivakumara Manu, Alejandro Valenzuela, Juraj Bergman, Marjolaine Rouselle, Felipe Ennes Silva, Lidia Agueda, Julie Blanc, Marta Gut, Dorien de Vries, Ian Goodhead, R. Alan Harris, Muthuswamy Raveendran, Axel Jensen, Idriss S. Chuma, Julie Horvath, Christina Hvilsom, David Juan, Peter Frandsen, Fabiano R. de Melo, Fabricio Bertuol, Hazel Byrne, Iracilda Sampaio, Izeni Farias, João Valsecchi do Amaral, Mariluce Messias, Maria N. F. da Silva, Mihir Trivedi, Rogerio Rossi, Tomas Hrbek, Nicole Andriaholinirina, Clément J. Rabarivola, Alphonse Zaramody, Clifford J. Jolly, Jane Phillips-Conroy, Gregory Wilkerson, Christian Abee, Joe H. Simmons, Eduardo Fernandez-Duque, ee Kanthaswamy, Fekadu Shiferaw, Dongdong Wu, Long Zhou, Yong Shao, Guojie Zhang, Julius D. Keyyu, Sascha Knauf, Minh D. Le, Esther Lizano, Stefan Merker, Arcadi Navarro, Thomas Batallion, Tilo Nadler, Chiea Chuen Khor, Jessica Lee, Patrick Tan, Weng Khong Lim, Andrew C. Kitchener, Dietmar Zinner, Ivo Gut, Amanda Melin, Katerina Guschanski, Mikkel Heide Schierup, Robin M. D. Beck, Govindhaswamy Umapathy, Christian Roos, Jean P. Boubli, Monkol Lek, Shamil Sunyaev, Anne O’Donnell, Heidi Rehm, Jinbo Xu, Jeffrey Rogers, Tomas Marques-Bonet, Kyle Kai-How Farh
Publikováno v:
Gao, H, Hamp, T, Ede, J, Schraiber, J G, McRae, J, Singer-Berk, M, Yang, Y, Dietrich, A S D, Fiziev, P P, Kuderna, L F K, Sundaram, L, Wu, Y, Adhikari, A, Field, Y, Chen, C, Batzoglou, S, Aguet, F, Lemire, G, Reimers, R, Balick, D, Janiak, M C, Kuhlwilm, M, Orkin, J D, Manu, S, Valenzuela, A, Bergman, J, Rousselle, M, Silva, F E, Agueda, L, Blanc, J, Gut, M, de Vries, D, Goodhead, I, Harris, R A, Raveendran, M, Jensen, A, Chuma, I S, Horvath, J E, Hvilsom, C, Juan, D, Frandsen, P, de Melo, F R, Bertuol, F, Byrne, H, Sampaio, I, Farias, I, do Amaral, J V, Messias, M, da Silva, M N F, Trivedi, M, Rossi, R, Hrbek, T, Andriaholinirina, N, Rabarivola, C J, Zaramody, A, Jolly, C J, Phillips-Conroy, J, Wilkerson, G, Abee, C, Simmons, J H, Fernandez-Duque, E, Kanthaswamy, S, Shiferaw, F, Wu, D, Zhou, L, Shao, Y, Zhang, G, Keyyu, J D, Knauf, S, Le, M D, Lizano, E, Merker, S, Navarro, A, Bataillon, T, Nadler, T, Khor, C C, Lee, J, Tan, P, Lim, W K, Kitchener, A C, Zinner, D, Gut, I, Melin, A, Guschanski, K, Schierup, M H, Beck, R M D, Umapathy, G, Roos, C, Boubli, J P, Lek, M, Sunyaev, S, O'Donnell-Luria, A, Rehm, H L, Xu, J, Rogers, J, Marques-Bonet, T & Farh, K K H 2023, ' The landscape of tolerated genetic variation in humans and primates ', Science (New York, N.Y.), vol. 380, no. 6648, abn8197 . https://doi.org/10.1126/science.abn8197
bioRxiv
Gao, H, Hamp, T, Ede, J, Schraiber, J G, McRae, J, Singer-Berk, M, Yang, Y, Dietrich, A S D, Fiziev, P P, Kuderna, L F K, Sundaram, L, Wu, Y, Adhikari, A, Field, Y, Chen, C, Batzoglou, S, Aguet, F, Lemire, G, Reimers, R, Balick, D, Janiak, M C, Kuhlwilm, M, Orkin, J D, Manu, S, Valenzuela, A, Bergman, J, Rousselle, M, Silva, F E, Agueda, L, Blanc, J, Gut, M, de Vries, D, Goodhead, I, Harris, R A, Raveendran, M, Jensen, A, Chuma, I S, Horvath, J E, Hvilsom, C, Juan, D, Frandsen, P, de Melo, F R, Bertuol, F, Byrne, H, Sampaio, I, Farias, I, do Amaral, J V, Messias, M, da Silva, M N F, Trivedi, M, Rossi, R, Hrbek, T, Andriaholinirina, N, Rabarivola, C J, Zaramody, A, Jolly, C J, Phillips-Conroy, J, Wilkerson, G, Abee, C, Simmons, J H, Fernandez-Duque, E, Kanthaswamy, S, Shiferaw, F, Wu, D, Zhou, L, Shao, Y, Zhang, G, Keyyu, J D, Knauf, S, Le, M D, Lizano, E, Merker, S, Navarro, A, Bataillon, T, Nadler, T, Khor, C C, Lee, J, Tan, P, Lim, W K, Kitchener, A C, Zinner, D, Gut, I, Melin, A, Guschanski, K, Schierup, M H, Beck, R M D, Umapathy, G, Roos, C, Boubli, J P, Lek, M, Sunyaev, S, O'Donnell-Luria, A, Rehm, H L, Xu, J, Rogers, J, Marques-Bonet, T & Farh, K K H 2023, ' The landscape of tolerated genetic variation in humans and primates ', Science (New York, N.Y.), vol. 380, no. 6648 . https://doi.org/10.1126/science.abn8197
bioRxiv
Gao, H, Hamp, T, Ede, J, Schraiber, J G, McRae, J, Singer-Berk, M, Yang, Y, Dietrich, A S D, Fiziev, P P, Kuderna, L F K, Sundaram, L, Wu, Y, Adhikari, A, Field, Y, Chen, C, Batzoglou, S, Aguet, F, Lemire, G, Reimers, R, Balick, D, Janiak, M C, Kuhlwilm, M, Orkin, J D, Manu, S, Valenzuela, A, Bergman, J, Rousselle, M, Silva, F E, Agueda, L, Blanc, J, Gut, M, de Vries, D, Goodhead, I, Harris, R A, Raveendran, M, Jensen, A, Chuma, I S, Horvath, J E, Hvilsom, C, Juan, D, Frandsen, P, de Melo, F R, Bertuol, F, Byrne, H, Sampaio, I, Farias, I, do Amaral, J V, Messias, M, da Silva, M N F, Trivedi, M, Rossi, R, Hrbek, T, Andriaholinirina, N, Rabarivola, C J, Zaramody, A, Jolly, C J, Phillips-Conroy, J, Wilkerson, G, Abee, C, Simmons, J H, Fernandez-Duque, E, Kanthaswamy, S, Shiferaw, F, Wu, D, Zhou, L, Shao, Y, Zhang, G, Keyyu, J D, Knauf, S, Le, M D, Lizano, E, Merker, S, Navarro, A, Bataillon, T, Nadler, T, Khor, C C, Lee, J, Tan, P, Lim, W K, Kitchener, A C, Zinner, D, Gut, I, Melin, A, Guschanski, K, Schierup, M H, Beck, R M D, Umapathy, G, Roos, C, Boubli, J P, Lek, M, Sunyaev, S, O'Donnell-Luria, A, Rehm, H L, Xu, J, Rogers, J, Marques-Bonet, T & Farh, K K H 2023, ' The landscape of tolerated genetic variation in humans and primates ', Science (New York, N.Y.), vol. 380, no. 6648 . https://doi.org/10.1126/science.abn8197
INTRODUCTIONMillions of people have received genome and exome sequencing to date, a collective effort that has illuminated for the first time the vast catalog of small genetic differences that distinguish us as individuals within our species. However
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40093f4fd8bf53afb92b2b17f54d2dc5
https://doi.org/10.1101/2023.05.01.538953
https://doi.org/10.1101/2023.05.01.538953
Publikováno v:
Prenatal diagnosisREFERENCES.
Sex chromosome aneuploidy (SCA) can be detected on prenatal diagnostic testing and cell free DNA screening (cfDNA). High risk cfDNA results should be confirmed with diagnostic testing. This summary article serves as an update for prenatal providers a
Autor:
Rebecca Reimers
Publikováno v:
OBG Management. 34
Autor:
Rebecca Reimers
Publikováno v:
OBG Management. 33
Autor:
Joseph R. Biggio, Bryann Bromley, Lorraine Dugoff, P. Kaitlyn Edelson, Jessica L. Giordano, Anthony R. Gregg, Michael H. Guo, Stephanie Guseh, Susan Klugman, Jeffrey A. Kuller, Brynn Levy, Lauren Lichten, Tippi C. MacKenzie, Michael T. Mennuti, Quoc-Hung L. Nguyen, Mary E. Norton, Barbara M. O’Brien, Soha S. Patel, Malavika Prabhu, Sara Schonfeld Rabin-Havt, Aleksandar Rajkovic, Rebecca Reimers, Britton D. Rink, Melissa Stosic, Ignatia B. Van den Veyver, Ronald Wapner, Louise Wilkins-Haug, Russell G. Witt, Svetlana A. Yatsenko
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d32d45e4eacbce3b56e6992246b9ca68
https://doi.org/10.1016/b978-0-323-53094-1.01002-x
https://doi.org/10.1016/b978-0-323-53094-1.01002-x