Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Jeremy McRae"'
Autor:
Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Deciphering Developmental Disorders Study, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Developmental disorders (DDs) are more prevalent in males, thought to be due to X-linked genetic variation. Here, the authors investigate the burden of X-linked coding variants in 11,044 DD patients, showing that this contributes to ~6% of both male
Externí odkaz:
https://doaj.org/article/97934482d6eb4ef4a62a77b65cc8aafa
Autor:
Petko Fiziev, Jeremy McRae, Jacob C. Ulirsch, Jacqueline S. Dron, Tobias Hamp, Yanshen Yang, Pierrick Wainschtein, Zijian Ni, Joshua G. Schraiber, Hong Gao, Dylan Cable, Yair Field, Francois Aguet, Marc Fasnacht, Ahmed Metwally, Jeffrey Rogers, Tomas Marques-Bonet, Heidi L. Rehm, Anne O’Donnell-Luria, Amit V. Khera, Kyle Kai-How Farh
Publikováno v:
medRxiv
We examined 454,712 exomes for genes associated with a wide spectrum of complex traits and common diseases and observed that rare, penetrant mutations in genes implicated by genome-wide association studies confer ∼10-fold larger effects than common
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15dd56c1a31aa4f239fad0b89c32d801
https://doi.org/10.1101/2023.05.01.23289356
https://doi.org/10.1101/2023.05.01.23289356
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
Autor:
Stuart Aitken, Helen V. Firth, Jeremy McRae, Mihail Halachev, Usha Kini, Michael J. Parker, Melissa M. Lees, Katherine Lachlan, Ajoy Sarkar, Shelagh Joss, Miranda Splitt, Shane McKee, Andrea H. Németh, Richard H. Scott, Caroline F. Wright, Joseph A. Marsh, Matthew E. Hurles, David R. FitzPatrick, T.W. Fitzgerald, S.S. Gerety, W.D. Jones, M. van Kogelenberg, D.A. King, J. McRae, K.I. Morley, V. Parthiban, S. Al-Turki, K. Ambridge, D.M. Barrett, T. Bayzetinova, S. Clayton, E.L. Coomber, S. Gribble, P. Jones, N. Krishnappa, L.E. Mason, A. Middleton, R. Miller, E. Prigmore, D. Rajan, A. Sifrim, A.R. Tivey, M. Ahmed, N. Akawi, R. Andrews, U. Anjum, H. Archer, R. Armstrong, M. Balasubramanian, R. Banerjee, D. Barelle, P. Batstone, D. Baty, C. Bennett, J. Berg, B. Bernhard, A.P. Bevan, E. Blair, M. Blyth, D. Bohanna, L. Bourdon, D. Bourn, A. Brady, E. Bragin, C. Brewer, L. Brueton, K. Brunstrom, S.J. Bumpstead, D.J. Bunyan, J. Burn, J. Burton, N. Canham, B. Castle, K. Chandler, S. Clasper, J. Clayton-Smith, T. Cole, A. Collins, M.N. Collinson, F. Connell, N. Cooper, H. Cox, L. Cresswell, G. Cross, Y. Crow, P.M. D’Alessandro, T. Dabir, R. Davidson, S. Davies, J. Dean, C. Deshpande, G. Devlin, A. Dixit, A. Dominiczak, C. Donnelly, D. Donnelly, A. Douglas, A. Duncan, J. Eason, S. Edkins, S. Ellard, P. Ellis, F. Elmslie, K. Evans, S. Everest, T. Fendick, R. Fisher, F. Flinter, N. Foulds, A. Fryer, B. Fu, C. Gardiner, L. Gaunt, N. Ghali, R. Gibbons, S.L. Gomes Pereira, J. Goodship, D. Goudie, E. Gray, P. Greene, L. Greenhalgh, L. Harrison, R. Hawkins, S. Hellens, A. Henderson, E. Hobson, S. Holden, S. Holder, G. Hollingsworth, T. Homfray, M. Humphreys, J. Hurst, S. Ingram, M. Irving, J. Jarvis, L. Jenkins, D. Johnson, D. Jones, E. Jones, D. Josifova, S. Joss, B. Kaemba, S. Kazembe, B. Kerr, U. Kini, E. Kinning, G. Kirby, C. Kirk, E. Kivuva, A. Kraus, D. Kumar, K. Lachlan, W. Lam, A. Lampe, C. Langman, M. Lees, D. Lim, G. Lowther, S.A. Lynch, A. Magee, E. Maher, S. Mansour, K. Marks, K. Martin, U. Maye, E. McCann, V. McConnell, M. McEntagart, R. McGowan, K. McKay, S. McKee, D.J. McMullan, S. McNerlan, S. Mehta, K. Metcalfe, E. Miles, S. Mohammed, T. Montgomery, D. Moore, S. Morgan, A. Morris, J. Morton, H. Mugalaasi, V. Murday, L. Nevitt, R. Newbury-Ecob, A. Norman, R. O’Shea, C. Ogilvie, S. Park, M.J. Parker, C. Patel, J. Paterson, S. Payne, J. Phipps, D.T. Pilz, D. Porteous, N. Pratt, K. Prescott, S. Price, A. Pridham, A. Proctor, H. Purnell, N. Ragge, J. Rankin, L. Raymond, D. Rice, L. Robert, E. Roberts, G. Roberts, J. Roberts, P. Roberts, A. Ross, E. Rosser, A. Saggar, S. Samant, R. Sandford, A. Sarkar, S. Schweiger, C. Scott, R. Scott, A. Selby, A. Seller, C. Sequeira, N. Shannon, S. Sharif, C. Shaw-Smith, E. Shearing, D. Shears, I. Simonic, D. Simpkin, R. Singzon, Z. Skitt, A. Smith, B. Smith, K. Smith, S. Smithson, L. Sneddon, M. Splitt, M. Squires, F. Stewart, H. Stewart, M. Suri, V. Sutton, G.J. Swaminathan, E. Sweeney, K. Tatton-Brown, C. Taylor, R. Taylor, M. Tein, I.K. Temple, J. Thomson, J. Tolmie, A. Torokwa, B. Treacy, C. Turner, P. Turnpenny, C. Tysoe, A. Vandersteen, P. Vasudevan, J. Vogt, E. Wakeling, D. Walker, J. Waters, A. Weber, D. Wellesley, M. Whiteford, S. Widaa, S. Wilcox, D. Williams, N. Williams, G. Woods, C. Wragg, M. Wright, F. Yang, M. Yau, N.P. Carter, M. Parker, H.V. Firth, D.R. FitzPatrick, C.F. Wright, J.C. Barrett, M.E. Hurles
Publikováno v:
American Journal of Human Genetics
Aitken, J, Firth, H V, McRae, J, Halachev, M, Kini, U, Parker, M J, Lees, M M, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, A H, Scott, R H, Wright, C F, Marsh, J, Hurles, M E, FitzPatrick, D 2019, ' Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.09.015
Aitken, J, Firth, H V, McRae, J, Halachev, M, Kini, U, Parker, M J, Lees, M M, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, A H, Scott, R H, Wright, C F, Marsh, J, Hurles, M E, FitzPatrick, D 2019, ' Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.09.015
Trio-based whole-exome sequence (WES) data have established confident genetic diagnoses in ∼40% of previously undiagnosed individuals recruited to the Deciphering Developmental Disorders (DDD) study. Here we aim to use the breadth of phenotypic inf
Autor:
Joanna, Kaplanis, Benjamin, Ide, Rashesh, Sanghvi, Matthew, Neville, Petr, Danecek, Tim, Coorens, Elena, Prigmore, Patrick, Short, Giuseppe, Gallone, Jeremy, McRae, Jenny, Carmichael, Angela, Barnicoat, Helen, Firth, Patrick, O'Brien, Raheleh, Rahbari, Chris, Odhams
Publikováno v:
Nature. 605(7910)
Mutations in the germline generates all evolutionary genetic variation and is a cause of genetic disease. Parental age is the primary determinant of the number of new germline mutations in an individual's genome
Autor:
Hemant, Bengani, Mark, Handley, Mohsan, Alvi, Rita, Ibitoye, Melissa, Lees, Sally Ann, Lynch, Wayne, Lam, Madeleine, Fannemel, Ann, Nordgren, H, Malmgren, M, Kvarnung, Sarju, Mehta, Shane, McKee, Margo, Whiteford, Fiona, Stewart, Fiona, Connell, Jill, Clayton-Smith, Sahar, Mansour, Shehla, Mohammed, Alan, Fryer, Jenny, Morton, Detelina, Grozeva, Tara, Asam, David, Moore, Alejandro, Sifrim, Jeremy, McRae, Matthew E, Hurles, Helen V, Firth, F Lucy, Raymond, Usha, Kini, Christoffer, Nellåker, Ddd Study, David R, FitzPatrick
Publikováno v:
Genetics in Medicine
Purpose: To characterize features associated with de novo mutations affecting SATB2 function in individuals ascertained on the basis of intellectual disability. Methods: Twenty previously unreported individuals with 19 different SATB2 mutations (11 l