المؤلفون: Sarah L. Stenton, Melanie C. O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay S. Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S. Pais, Jillian Serrano, Moriel Singer-Berk, Ben Weisburd, Michael W. Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Robert Hoehndorf, Julius O. B. Jacobsen, Thomas Joseph, Akash Kamandula, Panagiotis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S. Podda, Aditya Rao, Ettore Rizzo, Vangala G. Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A. Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E. Brenner, Stephanie M. Fullerton, Predrag Radivojac, Heidi L. Rehm, Anne O’Donnell-Luria

المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-25 (2024)

مصطلحات موضوعية: Rare disease, Genome sequencing, Genome interpretation, Variant prioritization, Best practices, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1479-7364Test

الوصول الحر: https://doaj.org/article/29fbe7d26d88463789f004c8908aa4a7Test

المؤلفون: Ophélie Gourgas, Gabrielle Lemire, Alison J. Eaton, Sultanah Alshahrani, Angela L. Duker, Jingjing Li, Ricki S. Carroll, Stuart Mackenzie, Sarah M. Nikkel, Care4Rare Canada Consortium, Michael B. Bober, Kym M. Boycott, Monzur Murshed

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/da25b033c7fc4486b1e0a997e6fbb6d0Test

المؤلفون: Joseph Biddle, Teresa Campbell, Alba Sanchis-Juan, Gabrielle Lemire, Lance Rodan, Melanie O'Leary, Christina Austin-Tse, Anne O'Donnell-Luria, Laurie Sadler

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101136- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424002826Test; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/f8ae176a01d245de908ffac5396881c1Test

المؤلفون: Christina Austin-Tse, Stephanie DiTroia, Melanie O'Leary, Grace VanNoy, Brian Mangilog, Gulalai Shah, Eva Martinez, Jillian Serrano, Lynn Pais, Emily O'Heir, Ikeoluwa Osei-Owusu, Gabrielle Lemire, Vijay Ganesh, Sarah Stenton, Mutaz Amin, Kayla Socarras, Mugdha Singh, Stacey Hall, Katie Larsson, Moriel Singer-Berk, Daniel Marten, Michael Wilson, Hana Snow, Benjamin Blankenmeister, Jialan Ma, Ben Weisburd, Alba Sanchis-Juan, Harrison Brand, Emily Groopman, Alysia Lovgren, Clara Williamson, Marissa Hollyer, Eleina England, Eleanor Seaby, Katherine Chao, Julia Goodrich, Samantha Baxter, Daniel MacArthur, Michael Talkowski, Monica Wojcik, Anne O'Donnell-Luria, Heidi Rehm

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101481- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424006277Test; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/bdb5a2568ed74512805481c679dca743Test

المؤلفون: Ophélie Gourgas, Gabrielle Lemire, Alison J. Eaton, Sultanah Alshahrani, Angela L. Duker, Jingjing Li, Ricki S. Carroll, Stuart Mackenzie, Sarah M. Nikkel, Care4Rare Canada Consortium, Michael B. Bober, Kym M. Boycott, Monzur Murshed

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

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/baf17e51d8864a008f9a109bd76b1197Test

المؤلفون: Margaux Serey-Gaut, Marisol Cortes, Periklis Makrythanasis, Mohnish Suri, Alexander M.R. Taylor, Jennifer A. Sullivan, Ayat N. Asleh, Jaba Mitra, Mohamad A. Dar, Amy McNamara, Vandana Shashi, Sarah Dugan, Xiaofei Song, Jill A. Rosenfeld, Christelle Cabrol, Justyna Iwaszkiewicz, Vincent Zoete, Davut Pehlivan, Zeynep Coban Akdemir, Elizabeth R. Roeder, Rebecca Okashah Littlejohn, Harpreet K. Dibra, Philip J. Byrd, Grant S. Stewart, Bilgen B. Geckinli, Jennifer Posey, Rachel Westman, Chelsy Jungbluth, Jacqueline Eason, Rani Sachdev, Carey-Anne Evans, Gabrielle Lemire, Grace E. VanNoy, Anne O’Donnell-Luria, Frédéric Tran Mau-Them, Aurélien Juven, Juliette Piard, Cheng Yee Nixon, Ying Zhu, Taekjip Ha, Michael F. Buckley, Christel Thauvin, George K. Essien Umanah, Lionel Van Maldergem, James R. Lupski, Tony Roscioli, Valina L. Dawson, Ted M. Dawson, Stylianos E. Antonarakis

المصدر: The American Journal of Human Genetics. 110:499-515

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9e2d50555f9c5c4a64e825141a0c1e94Test
https://doi.org/10.1016/j.ajhg.2023.01.006Test

المؤلفون: Grace Uwaila, Ediae, Gabrielle, Lemire, Caitlin, Chisholm, Taila, Hartley, Alison, Eaton, Matthew, Osmond, Samantha K, Rojas, Lijia, Huang, Meredith, Gillespie, Sarah L, Sawyer, Kym M, Boycott

المصدر: American Journal of Medical Genetics Part A. 191:338-347

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::833b228c473e139cc1685b1da73ce0aeTest
https://doi.org/10.1002/ajmg.a.63022Test

المؤلفون: 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

المصدر: 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.abn8197Test
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.abn8197Test

مصطلحات موضوعية: Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40093f4fd8bf53afb92b2b17f54d2dc5Test
https://doi.org/10.1101/2023.05.01.538953Test

المؤلفون: Yan Huang, Gabrielle Lemire, Lauren C. Briere, Fang Liu, Marja W. Wessels, Xueqi Wang, Matthew Osmond, Oguz Kanca, Shenzhao Lu, Frances A. High, Melissa A. Walker, Lance H. Rodan, Michael F. Wangler, Shinya Yamamoto, Kristin D. Kernohan, David A. Sweetser, Kym M. Boycott, Hugo J. Bellen

المساهمون: Clinical Genetics

المصدر: American Journal of Human Genetics, 109(10), 1923-1931. Cell Press
Am J Hum Genet

مصطلحات موضوعية: DNA, Complementary, Microfilament Proteins, Mutation, Missense, Correction, Membrane Proteins, Nervous System Malformations, Phenotype, Report, Intellectual Disability, Microcephaly, Genetics, Animals, Humans, Drosophila, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f3c5743b62a5fb842b71f4a216459feTest
https://doi.org/10.1016/j.ajhg.2022.08.011Test

المؤلفون: Stella MacDonald, Gabrielle Lemire

المصدر: American Journal of Medical Genetics Part A. 188:2493-2496

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9101dda4ddc0084e084ada7a7a9df0b1Test
https://doi.org/10.1002/ajmg.a.62849Test