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Items: 1 to 20 of 28

1.
Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A. Skinner, Jack Reilly, Jennifer Kerkhof, Cynthia J. Curry, Patrick S. Tarpey, Stephen P. Robertson, Isabelle Maystadt, Boris Keren, Joanne W. Dixon, Cindy Skinner, Rachel Stapleton, Lyse Ruaud, Evren Gumus, Phillis Lakeman, Mariëlle Alders, Matthew L. Tedder, Charles E. Schwartz, Michael J. Friez, Bekim Sadikovic, Roger E. Stevenson
Eur J Hum Genet. 2022 Apr; 30(4): 420–427. Published online 2022 Jan 7. doi: 10.1038/s41431-021-01018-1
PMCID:
PMC8990020
2.
Geyan Wu, Hu Peng, Miaoling Tang, Meisongzhu Yang, Jun Wang, Yameng Hu, Ziwen Li, Jun Li, Zheng Li, Libing Song
EBioMedicine. 2021 Sep; 71: 103558. Published online 2021 Sep 11. doi: 10.1016/j.ebiom.2021.103558
PMCID:
PMC8441092
3.
Dorota Monies, Mohammed Abouelhoda, Mirna Assoum, Nabil Moghrabi, Rafiullah Rafiullah, Naif Almontashiri, Mohammed Alowain, Hamad Alzaidan, Moeen Alsayed, Shazia Subhani, Edward Cupler, Maha Faden, Amal Alhashem, Alya Qari, Aziza Chedrawi, Hisham Aldhalaan, Wesam Kurdi, Sameena Khan, Zuhair Rahbeeni, Maha Alotaibi, Ewa Goljan, Hadeel Elbardisy, Mohamed ElKalioby, Zeeshan Shah, Hibah Alruwaili, Amal Jaafar, Ranad Albar, Asma Akilan, Hamsa Tayeb, Asma Tahir, Mohammed Fawzy, Mohammed Nasr, Shaza Makki, Abdullah Alfaifi, Hanna Akleh, Suad Yamani, Dalal Bubshait, Mohammed Mahnashi, Talal Basha, Afaf Alsagheir, Musad Abu Khaled, Khalid Alsaleem, Maisoon Almugbel, Manal Badawi, Fahad Bashiri, Saeed Bohlega, Raashida Sulaiman, Ehab Tous, Syed Ahmed, Talal Algoufi, Hamoud Al-Mousa, Emadia Alaki, Susan Alhumaidi, Malak Althagafi, Hadeel Alghamdi, Malak Alghamdi, Ahmed Sahly, Shapar Nahrir, Ali Al-Ahmari, Hisham Alkuraya, Ali Almehaidib, Mohammed Abanemai, Fahad Alsohaibaini, Bandar Alsaud, Rand Arnaout, Ghada M.H. Abdel-Salam, Hasan Aldhekri, Suzan AlKhater, Khalid Alqadi, Essam Alsabban, Turki Alshareef, Khalid Awartani, Hanaa Banjar, Nada Alsahan, Ibraheem Abosoudah, Abdullah Alashwal, Wajeeh Aldekhail, Sami Alhajjar, Sulaiman Al-Mayouf, Abdulaziz Alsemari, Walaa Alshuaibi, Saeed Altala, Abdulhadi Altalhi, Salah Baz, Muddathir Hamad, Tariq Abalkhail, Badi Alenazi, Alya Alkaff, Fahad Almohareb, Fuad Al Mutairi, Mona Alsaleh, Abdullah Alsonbul, Somaya Alzelaye, Shakir Bahzad, Abdulaziz Bin Manee, Ola Jarrad, Neama Meriki, Bassem Albeirouti, Amal Alqasmi, Mohammed AlBalwi, Nawal Makhseed, Saeed Hassan, Isam Salih, Mustafa A. Salih, Marwan Shaheen, Saadeh Sermin, Shamsad Shahrukh, Shahrukh Hashmi, Ayman Shawli, Ameen Tajuddin, Abdullah Tamim, Ahmed Alnahari, Ibrahim Ghemlas, Maged Hussein, Sami Wali, Hatem Murad, Brian F. Meyer, Fowzan S. Alkuraya
Am J Hum Genet. 2019 Jun 6; 104(6): 1182–1201. Published online 2019 May 23. doi: 10.1016/j.ajhg.2019.04.011
PMCID:
PMC6562004
4.
L Colleaux, M May, J Belougne, D Lepaslier, C Schwartz, M Fontes
J Med Genet. 1996 May; 33(5): 353–357. doi: 10.1136/jmg.33.5.353
PMCID:
PMC1050600
5.
S L Lloyd, C A Sargent, J Chalmers, E Lim, S S Habeebu, N A Affara
Nucleic Acids Res. 1991 Sep 25; 19(18): 4835–4841. doi: 10.1093/nar/19.18.4835
PMCID:
PMC328776
6.
Weiya Ni, Andrew A Perez, Shannon Schreiner, Charles M Nicolet, Peggy J Farnham
Nucleic Acids Res. 2020 Jun 19; 48(11): 5986–6000. Published online 2020 May 14. doi: 10.1093/nar/gkaa384
PMCID:
PMC7293018
7.
Loredana Poeta, Agnese Padula, Maria Brigida Lioi, Hans van Bokhoven, Maria Giuseppina Miano
Genes (Basel) 2021 Jul; 12(7): 1088. Published online 2021 Jul 18. doi: 10.3390/genes12071088
PMCID:
PMC8305412
8.
Daniela Kleine-Kohlbrecher, Jesper Christensen, Julien Vandamme, Iratxe Abarrategui, Mads Bak, Niels Tommerup, Xiaobing Shi, Or Gozani, Juri Rappsilber, Anna Elisabetta Salcini, Kristian Helin
Mol Cell. 2010 Apr 23; 38(2-2): 165–178. doi: 10.1016/j.molcel.2010.03.002
PMCID:
PMC2989439
9.
Loredana Poeta, Agnese Padula, Benedetta Attianese, Mariaelena Valentino, Lucia Verrillo, Stefania Filosa, Cheryl Shoubridge, Adriano Barra, Charles E Schwartz, Jesper Christensen, Hans van Bokhoven, Kristian Helin, Maria Brigida Lioi, Patrick Collombat, Jozef Gecz, Lucia Altucci, Elia Di Schiavi, Maria Giuseppina Miano
Hum Mol Genet. 2019 Dec 15; 28(24): 4089–4102. Published online 2019 Nov 6. doi: 10.1093/hmg/ddz254
PMCID:
PMC7002875
10.
Patrick S Tarpey, Raffaella Smith, Erin Pleasance, Annabel Whibley, Sarah Edkins, Claire Hardy, Sarah O'Meara, Calli Latimer, Ed Dicks, Andrew Menzies, Phil Stephens, Matt Blow, Chris Greenman, Yali Xue, Chris Tyler-Smith, Deborah Thompson, Kristian Gray, Jenny Andrews, Syd Barthorpe, Gemma Buck, Jennifer Cole, Rebecca Dunmore, David Jones, Mark Maddison, Tatiana Mironenko, Rachel Turner, Kelly Turrell, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, Jon Teague, Adam Butler, Andrew Jenkinson, Mingming Jia, David Richardson, Rebecca Shepherd, Richard Wooster, M Isabel Tejada, Francisco Martinez, Gemma Carvill, Rene Goliath, Arjan P M de Brouwer, Hans van Bokhoven, Hilde Van Esch, Jamel Chelly, Martine Raynaud, Hans-Hilger Ropers, Fatima E Abidi, Anand K Srivastava, James Cox, Ying Luo, Uma Mallya, Jenny Moon, Josef Parnau, Shehla Mohammed, John L Tolmie, Cheryl Shoubridge, Mark Corbett, Alison Gardner, Eric Haan, Sinitdhorn Rujirabanjerd, Marie Shaw, Lucianne Vandeleur, Tod Fullston, Douglas F Easton, Jackie Boyle, Michael Partington, Anna Hackett, Michael Field, Cindy Skinner, Roger E Stevenson, Martin Bobrow, Gillian Turner, Charles E Schwartz, Jozef Gecz, F Lucy Raymond, P Andrew Futreal, Michael R Stratton
Nat Genet.
Published in final edited form as: Nat Genet. 2009 May; 41(5): 535–543. Published online 2009 Apr 19. doi: 10.1038/ng.367
PMCID:
PMC2872007
11.
Benjamin A Diner, Tuo Li, Todd M Greco, Marni S Crow, John A Fuesler, Jennifer Wang, Ileana M Cristea
Mol Syst Biol. 2015 Feb; 11(2): 787. Published online 2015 Feb 9. doi: 10.15252/msb.20145808
PMCID:
PMC4358659
12.
Mark T. Ross, Darren V. Grafham, Alison J. Coffey, Steven Scherer, Kirsten McLay, Donna Muzny, Matthias Platzer, Gareth R. Howell, Christine Burrows, Christine P. Bird, Adam Frankish, Frances L. Lovell, Kevin L. Howe, Jennifer L. Ashurst, Robert S. Fulton, Ralf Sudbrak, Gaiping Wen, Matthew C. Jones, Matthew E. Hurles, T. Daniel Andrews, Carol E. Scott, Stephen Searle, Juliane Ramser, Adam Whittaker, Rebecca Deadman, Nigel P. Carter, Sarah E. Hunt, Rui Chen, Andrew Cree, Preethi Gunaratne, Paul Havlak, Anne Hodgson, Michael L. Metzker, Stephen Richards, Graham Scott, David Steffen, Erica Sodergren, David A. Wheeler, Kim C. Worley, Rachael Ainscough, Kerrie D. Ambrose, M. Ali Ansari-Lari, Swaroop Aradhya, Robert I. S. Ashwell, Anne K. Babbage, Claire L. Bagguley, Andrea Ballabio, Ruby Banerjee, Gary E. Barker, Karen F. Barlow, Ian P. Barrett, Karen N. Bates, David M. Beare, Helen Beasley, Oliver Beasley, Alfred Beck, Graeme Bethel, Karin Blechschmidt, Nicola Brady, Sarah Bray-Allen, Anne M. Bridgeman, Andrew J. Brown, Mary J. Brown, David Bonnin, Elspeth A. Bruford, Christian Buhay, Paula Burch, Deborah Burford, Joanne Burgess, Wayne Burrill, John Burton, Jackie M. Bye, Carol Carder, Laura Carrel, Joseph Chako, Joanne C. Chapman, Dean Chavez, Ellson Chen, Guan Chen, Yuan Chen, Zhijian Chen, Craig Chinault, Alfredo Ciccodicola, Sue Y. Clark, Graham Clarke, Chris M. Clee, Sheila Clegg, Kerstin Clerc-Blankenburg, Karen Clifford, Vicky Cobley, Charlotte G. Cole, Jen S. Conquer, Nicole Corby, Richard E. Connor, Robert David, Joy Davies, Clay Davis, John Davis, Oliver Delgado, Denise DeShazo, Pawandeep Dhami, Yan Ding, Huyen Dinh, Steve Dodsworth, Heather Draper, Shannon Dugan-Rocha, Andrew Dunham, Matthew Dunn, K. James Durbin, Ireena Dutta, Tamsin Eades, Matthew Ellwood, Alexandra Emery-Cohen, Helen Errington, Kathryn L. Evans, Louisa Faulkner, Fiona Francis, John Frankland, Audrey E. Fraser, Petra Galgoczy, James Gilbert, Rachel Gill, Gernot Glöckner, Simon G. Gregory, Susan Gribble, Coline Griffiths, Russell Grocock, Yanghong Gu, Rhian Gwilliam, Cerissa Hamilton, Elizabeth A. Hart, Alicia Hawes, Paul D. Heath, Katja Heitmann, Steffen Hennig, Judith Hernandez, Bernd Hinzmann, Sarah Ho, Michael Hoffs, Phillip J. Howden, Elizabeth J. Huckle, Jennifer Hume, Paul J. Hunt, Adrienne R. Hunt, Judith Isherwood, Leni Jacob, David Johnson, Sally Jones, Pieter J. de Jong, Shirin S. Joseph, Stephen Keenan, Susan Kelly, Joanne K. Kershaw, Ziad Khan, Petra Kioschis, Sven Klages, Andrew J. Knights, Anna Kosiura, Christie Kovar-Smith, Gavin K. Laird, Cordelia Langford, Stephanie Lawlor, Margaret Leversha, Lora Lewis, Wen Liu, Christine Lloyd, David M. Lloyd, Hermela Loulseged, Jane E. Loveland, Jamieson D. Lovell, Ryan Lozado, Jing Lu, Rachael Lyne, Jie Ma, Manjula Maheshwari, Lucy H. Matthews, Jennifer McDowall, Stuart McLaren, Amanda McMurray, Patrick Meidl, Thomas Meitinger, Sarah Milne, George Miner, Shailesh L. Mistry, Margaret Morgan, Sidney Morris, Ines Müller, James C. Mullikin, Ngoc Nguyen, Gabriele Nordsiek, Gerald Nyakatura, Christopher N. O’Dell, Geoffery Okwuonu, Sophie Palmer, Richard Pandian, David Parker, Julia Parrish, Shiran Pasternak, Dina Patel, Alex V. Pearce, Danita M. Pearson, Sarah E. Pelan, Lesette Perez, Keith M. Porter, Yvonne Ramsey, Kathrin Reichwald, Susan Rhodes, Kerry A. Ridler, David Schlessinger, Mary G. Schueler, Harminder K. Sehra, Charles Shaw-Smith, Hua Shen, Elizabeth M. Sheridan, Ratna Shownkeen, Carl D. Skuce, Michelle L. Smith, Elizabeth C. Sotheran, Helen E. Steingruber, Charles A. Steward, Roy Storey, R. Mark Swann, David Swarbreck, Paul E. Tabor, Stefan Taudien, Tineace Taylor, Brian Teague, Karen Thomas, Andrea Thorpe, Kirsten Timms, Alan Tracey, Steve Trevanion, Anthony C. Tromans, Michele d’Urso, Daniel Verduzco, Donna Villasana, Lenee Waldron, Melanie Wall, Qiaoyan Wang, James Warren, Georgina L. Warry, Xuehong Wei, Anthony West, Siobhan L. Whitehead, Mathew N. Whiteley, Jane E. Wilkinson, David L. Willey, Gabrielle Williams, Leanne Williams, Angela Williamson, Helen Williamson, Laurens Wilming, Rebecca L. Woodmansey, Paul W. Wray, Jennifer Yen, Jingkun Zhang, Jianling Zhou, Huda Zoghbi, Sara Zorilla, David Buck, Richard Reinhardt, Annemarie Poustka, André Rosenthal, Hans Lehrach, Alfons Meindl, Patrick J. Minx, LaDeana W. Hillier, Huntington F. Willard, Richard K. Wilson, Robert H. Waterston, Catherine M. Rice, Mark Vaudin, Alan Coulson, David L. Nelson, George Weinstock, John E. Sulston, Richard Durbin, Tim Hubbard, Richard A. Gibbs, Stephan Beck, Jane Rogers, David R. Bentley
Nature.
Published in final edited form as: Nature. 2005 Mar 17; 434(7031): 325–337. doi: 10.1038/nature03440
PMCID:
PMC2665286
13.
Gaëlle Blandin, Sylvie Marchand, Karine Charton, Nathalie Danièle, Evelyne Gicquel, Jean-Baptiste Boucheteil, Azéddine Bentaib, Laetitia Barrault, Daniel Stockholm, Marc Bartoli, Isabelle Richard
Skelet Muscle. 2013; 3: 3. Published online 2013 Feb 15. doi: 10.1186/2044-5040-3-3
PMCID:
PMC3610214
14.
Jean-Philippe Lambert, Sarah Picaud, Takao Fujisawa, Huayun Hou, Pavel Savitsky, Liis Uusküla-Reimand, Gagan D. Gupta, Hala Abdouni, Zhen-Yuan Lin, Monika Tucholska, James D.R. Knight, Beatriz Gonzalez-Badillo, Nicole St-Denis, Joseph A. Newman, Manuel Stucki, Laurence Pelletier, Nuno Bandeira, Michael D. Wilson, Panagis Filippakopoulos, Anne-Claude Gingras
Mol Cell. 2019 Feb 7; 73(3): 621–638.e17. doi: 10.1016/j.molcel.2018.11.006
PMCID:
PMC6375729
15.
Robert Siddaway, Scott Milos, Étienne Coyaud, Hwa Young Yun, Shahir M. Morcos, Sanja Pajovic, Eric I. Campos, Brian Raught, Cynthia Hawkins
Mol Cell Proteomics. 2022 Oct; 21(10): 100411. Published online 2022 Sep 9. doi: 10.1016/j.mcpro.2022.100411
PMCID:
PMC9540345
16.
Jean-Philippe Lambert, Monika Tucholska, Christopher Go, James D.R. Knight, Anne-Claude Gingras
J Proteomics.
Published in final edited form as: J Proteomics. 2015 Apr 6; 118: 81–94. Published online 2014 Oct 2. doi: 10.1016/j.jprot.2014.09.011
PMCID:
PMC4383713
17.
Martina Oravcová, Minghua Nie, Nicola Zilio, Shintaro Maeda, Yasaman Jami-Alahmadi, Eros Lazzerini-Denchi, James A Wohlschlegel, Helle D Ulrich, Takanori Otomo, Michael N Boddy
eLife. 2022; 11: e79676. Published online 2022 Nov 14. doi: 10.7554/eLife.79676
PMCID:
PMC9708086
18.
Jae Jin Kim, Seo Yun Lee, Fade Gong, Anna M. Battenhouse, Daniel R. Boutz, Aarti Bashyal, Samantha T. Refvik, Cheng-Ming Chiang, Blerta Xhemalce, Tanya T. Paull, Jennifer S. Brodbelt, Edward M. Marcotte, Kyle M. Miller
Genes Dev. 2019 Dec 1; 33(23-24): 1751–1774. doi: 10.1101/gad.331231.119
PMCID:
PMC6942044
19.
Ramesh Kumar, Román González-Prieto, Zhenyu Xiao, Matty Verlaan-de Vries, Alfred C. O. Vertegaal
Nat Commun. 2017; 8: 1809. Published online 2017 Nov 27. doi: 10.1038/s41467-017-01900-x
PMCID:
PMC5703878
20.
Jennifer Raisch, Marie-Line Dubois, Marika Groleau, Dominique Lévesque, Thomas Burger, Carla-Marie Jurkovic, Romain Brailly, Gwendoline Marbach, Alyson McKenna, Catherine Barrette, Pierre-Étienne Jacques, François-Michel Boisvert
Mol Cell Proteomics. 2023 Oct; 22(10): 100644. Published online 2023 Sep 7. doi: 10.1016/j.mcpro.2023.100644
PMCID:
PMC10565876

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