檢索結果 - Martin Broly
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1
Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism 由 Roser Corominas, Xinping Yang, Guan Ning Lin, Shuli Kang, Yun Shen, Lila Ghamsari, Martin Broly, Maria Rodriguez, Stanley Tam, Shelly A. Wanamaker, Changyu Fan, S. Stephen Yi, Murat Taşan, Irma Lemmens, Xingyan Kuang, Nan Zhao, Dheeraj Malhotra, Jacob J. Michaelson, Vladimir Vacic, Michael A. Calderwood, Frederick P. Roth, Jan Tavernier, Steve Horvath, Kourosh Salehi‐Ashtiani, Dmitry Korkin, Jonathan Sebat, David E. Hill, Tong Hao, Marc Vidal, Lilia M. Iakoucheva
出版 2014Artigo -
2
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder 由 Martin Broly, Bogdan Polevoda, Kamel Awayda, Ning Tong, Jenna M. Lentini, Thomas Besnard, Wallid Deb, Declan O’Rourke, Júlia Baptista, Sian Ellard, Mohammed Almannai, Mais Hashem, Ferdous Abdulwahab, Hanan E. Shamseldin, Saeed M Al-Tala, Fowzan S. Alkuraya, A. S. Leon, Rosa Laura E. van Loon, Alessandra Ferlini, Mariabeatrice Sanchini, Stefania Bigoni, Andrea Ciorba, Hans van Bokhoven, Zafar Iqbal, Almundher Al‐Maawali, Fathiya Al-Murshedi, Anuradha Ganesh, Watfa Al‐Mamari, Sze Chern Lim, Lynn Pais, Natasha J. Brown, Saima Riazuddin, Stéphane Bézieau, Dragony Fu, Bertrand Isidor, Benjamin Cogné, Mitchell R. O’Connell
出版 2022Artigo -
3
A Proteome-Scale Map of the Human Interactome Network 由 Thomas Rolland, Murat Taşan, Benoît Charloteaux, Samuel Pevzner, Quan Zhong, Nidhi Sahni, S. Stephen Yi, Irma Lemmens, Celia Fontanillo, Roberto Mosca, Atanas Kamburov, Susan Dina Ghiassian, Xinping Yang, Lila Ghamsari, Dawit Balcha, Bridget E. Begg, Pascal Braun, Marc Brehme, Martin Broly, Anne‐Ruxandra Carvunis, Dan Convery-Zupan, Roser Corominas, Jasmin Coulombe‐Huntington, Elizabeth Dann, Matija Dreze, Amélie Dricot, Changyu Fan, Eric A. Franzosa, Fana Gebreab, Bryan J. Gutierrez, Madeleine F. Hardy, Mike Jin, Shuli Kang, Ruth Kiros, Guan Ning Lin, Katja Luck, Andrew MacWilliams, Jörg Menche, Ryan R. Murray, Alexandre Palagi, Matthew M. Poulin, Xavier Rambout, John Rasla, Patrick Reichert, Viviana Romero, Elien Ruyssinck, Julie M. Sahalie, Annemarie Scholz, Akash Shah, Amitabh Sharma, Yun Shen, Kerstin Spirohn, Stanley Tam, Alexander O. Tejeda, Shelly A. Wanamaker, Jean‐Claude Twizere, Kerwin Vega, Jennifer Walsh, Michael E. Cusick, Yu Xia, Albert‐László Barabási, Lilia M. Iakoucheva, Patrick Aloy, Javier De Las Rivas, Jan Tavernier, Michael A. Calderwood, David E. Hill, Tong Hao, Frederick P. Roth, Marc Vidal
出版 2014Artigo -
4
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior 由 Holly K. Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels, Aubrie Soucy, Casie A. Genetti, Victoria Suslovitch, Lance H. Rodan, George E. Tiller, Gaëtan Lesca, Karen W. Gripp, Reza Asadollahi, Ada Hamosh, Carolyn Applegate, Peter D. Turnpenny, Marleen Simon, Catharina M.L. Volker‐Touw, Koen L.I. van Gassen, Ellen van Binsbergen, Rolph Pfundt, Thatjana Gardeitchik, Bert B.A. de Vries, LaDonna Immken, Catherine A. Buchanan, Marcia Willing, Tomi L. Toler, Emily Fassi, Laura Baker, Fleur Vansenne, Xiaodong Wang, Julian L. Ambrus, Madeleine Fannemel, Jennifer E. Posey, Emanuele Agolini, Antonio Novelli, Anita Rauch, Paranchai Boonsawat, Christina Fagerberg, Martin J. Larsen, Maria Kibæk, Audrey Labalme, Alice Poisson, Katelyn Payne, Laurence E. Walsh, Kimberly A. Aldinger, Jorune Balciuniene, Cara Skraban, Christopher Gray, Jill R. Murrell, Caleb Bupp, Giulia Pascolini, Paola Grammatico, Martin Broly, Sébastien Küry, Mathilde Nizon, Iqra Ghulam Rasool, Muhammad Yasir Zahoor, Cornelia Kraus, André Reis, Muhammad Aamir Iqbal, Kévin Uguen, Séverine Audebert‐Bellanger, Claude Férec, Sylvia Redon, Janice Baker, Yunhong Wu, Guiseppe Zampino, Steffan Syrbe, Ines Brösse, Rami Abou Jamra, William B. Dobyns, Lilian Cohen, Anne Blomhoff, Cyril Mignot, Boris Keren, Thomas Courtin, Pankaj B. Agrawal, Alan H. Beggs, Timothy W. Yu
出版 2021Artigo
相關主題
Biology
Gene
Genetics
Autism
Autism spectrum disorder
Computational biology
Intellectual disability
Interactome
Medicine
Psychiatry
RNA
Acetylation
Allele
Alternative splicing
Artificial intelligence
Attention deficit
Attention deficit hyperactivity disorder
Bioinformatics
Clinical psychology
Computer science
Gene isoform
Genetic variants
Genome
Genotype
Human genetics
Human proteome project
Interconnectivity
Loss function
Messenger RNA
Missense mutation