Results 211 to 220 of about 1,041,152 (399)
Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing [PDF]
, 2011 Mitchell Stark, Susan L. Woods, Michael G. Gartside, Vanessa Bonazzi, Ken Dutton‐Regester, Lauren G. Aoude, Donald Chow, Chris Sereduk, Natalie M. Niemi, Nanyun Tang, Jonathan J. Ellis, Jeffrey G. Reid, Victoria Zismann, Sonika Tyagi, Donna M. Muzny, Irene Newsham, Yuanqing Wu, Jane M. Palmer, Thomas A. Pollak, David Youngkin, Bradford Brooks, Catherine Lanagan, Christopher Schmidt, Boštjan Kobe, Jeffrey P. MacKeigan, Hongwei Yin, Kevin M. Brown, Richard A. Gibbs, Jeffrey M. Trent, Nicholas K. Hayward +29 moreopenalex +1 more sourceAdvancing human genetics research and drug discovery through exome sequencing of the UK Biobank
Nature Genetics, 2021 J. Szustakowski, S. Balasubramanian, E. Kvikstad, S. Khalid, Paola G. Bronson, Ariella Sasson, Emily Wong, Daren Liu, J. Wade Davis, C. Haefliger, A. Katrina Loomis, Rajesh Mikkilineni, H. J. Noh, Samir Wadhawan, X. Bai, A. Hawes, O. Krasheninina, Ricardo Ulloa, Alex Lopez, Erin N. Smith, Jeffrey F. Waring, Christopher D. Whelan, Ellen A. Tsai, J. Overton, W. Salerno, H. Jacob, S. Szalma, H. Runz, Gregory Hinkle, P. Nioi, S. Petrovski, Melissa R. Miller, A. Baras, L. Mitnaul, J. Reid, Oleg Carlos Saurabh Goncalo Nilanjana Christina Boris M Moiseyenko Rios Saha Abecasis Banerjee Beechert Bo, O. Moiseyenko, Carlos Rios, Saurabh Saha, Gonçalo R. Abecasis, N. Banerjee, Christina Beechert, Boris Boutkov, M. Cantor, G. Coppola, A. Economides, Gisu Eom, Caitlin Forsythe, Erin D. Fuller, Zhenhua Gu, L. Habegger, Marcus Jones, R. Lanche, Michael Lattari, Michelle Leblanc, Dadong Li, L. Lotta, Kia Manoochehri, A. Mansfield, E. Maxwell, Jason Mighty, Mrunali Nafde, S. O’Keeffe, Max Orelus, Maria Sotiropoulos Padilla, R. Panea, Tommy Polanco, Manasi Pradhan, A. Rasool, T. Schleicher, Deepika Sharma, A. Shuldiner, J. Staples, C. V. van Hout, Louis Widom, Sarah E. Wolf, Sally John, Chia-Yen Chen, David Sexton, V. Kupelian, Eric Marshall, Timothy Swan, Susan Eaton, Jimmy Z. Liu, Stephanie J. Loomis, M. Jensen, Saranya Duraisamy, Jason Tetrault, David Merberg, S. Badola, M. Reppell, Jason Grundstad, Xiuwen Zheng, A. Deaton, Margaret M. Parker, Lucas D. Ward, A. Flynn-Carroll, Caroline Austin, Ruth March, M. Pangalos, A. Platt, Mike Snowden, A. Matakidou, Sebastian Wasilewski, Quanli Wang, Sri V. V. Deevi, K. Carss, Katherine R Smith, Morten Sogaard, Xinli Hu, Xing Chen, Zhan Ye +111 moresemanticscholar +1 more sourceSemantic prioritization of novel causative genomic variants.
PLoS Computational Biology, 2017 Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today.Imane Boudellioua, Rozaimi B Mahamad Razali, Maxat Kulmanov, Yasmeen Hashish, Vladimir B Bajic, Eva Goncalves-Serra, Nadia Schoenmakers, Georgios V Gkoutos, Paul N Schofield, Robert Hoehndorf +9 moredoaj +1 more sourceA companion to the preclinical common data elements for genomics, transcriptomics, and epigenomics data in rodent epilepsy models. A report of the TASK3‐WG4 omics working group of the ILAE/AES joint translational TASK force
Epilepsia Open, EarlyView., 2022 Abstract
The International League Against Epilepsy/American Epilepsy Society (ILAE/AES) Joint Translational Task Force established the TASK3 working groups to create common data elements (CDEs) for various preclinical epilepsy research disciplines. The aim of the CDEs is to improve the standardization of experimental designs across a range of epilepsy ...Erwin A. van Vliet, Michael S. Hildebrand, James D. Mills, Gary P. Brennan, Tore Eid, Susan A. Masino, Vicky Whittemore, Laura Bindila, Kevin K. Wang, Manisha Patel, Piero Perucca, Christopher A. Reid +11 morewiley +1 more sourceWhole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa [PDF]
, 2011 Stephan Züchner, Julia E. Dallman, Rong Wen, Gary W. Beecham, Adam C. Naj, Amjad Farooq, Martin Kohli, Patrice L. Whitehead, William Hulme, Ioanna Konidari, Yvonne J. K. Edwards, Guiqing Cai, Inga Peter, David Seo, Joseph D. Buxbaum, Jonathan L. Haines, Susan H. Blanton, Juan I. Young, Eduardo C. Alfonso, Jeffery M. Vance, Byron L. Lam, Margaret A Pericak‐Vance +21 moreopenalex +1 more sourceDetecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (Caroline Gully Brown, Matthew Bower, Matthew Schomaker, Jessica Goldstein, Jeanine Jarnes, Chester B. Whitley, Nishitha R. Pillai +6 morewiley +1 more sourceNanopore Sequencing Solves an Elusive Case of Sotos Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.Pasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman, Francesca Del Vecchio Blanco, Mariateresa Zanobio, Margherita Scarpato, Margherita Russo, Maria Elena Onore, Giulio Piluso, TUDP Study Group, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Manuela Morleo, Nicola Brunetti Pierri, Giancarlo Parenti, Carmine Spampanato, Giulio Piluso, Michele Pinelli, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Andrea Accogli, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Donatella Milani, Corrado Romano, Pinella Failla, Donatella Greco, Chiara Pantaleoni, Claudia Ciaccio, Stefano D’Arrigo, Antonietta Coppola, Teresa Mattina, Marcella Zollino, Domizia Pasquetti, Federica L. Erario, Albina Tummolo, Claudia Santoro, Anna Grandone, Livia Garavelli, Carla Marini, Stefania Bigoni, Carmelo Piscopo, Antonio Trabacca, Marta De Rinaldis, Vincenzo Nigro, Gioacchino Scarano, Annalaura Torella +52 morewiley +1 more sourceLarge-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
Cell, 2019 F. Satterstrom, J. Kosmicki, Jiebiao Wang, M. Breen, S. Rubeis, Joon-Yong An, Minshi Peng, Ryan L. Collins, J. Grove, L. Klei, C. Stevens, J. Reichert, Maureen S. Mulhern, M. Artomov, Sherif Gerges, B. Sheppard, Xinyi Xu, A. Bhaduri, Utku Norman, H. Brand, Grace B. Schwartz, Rachel Nguyen, Elizabeth E. Guerrero, Caroline Dias, C. Betancur, E. Cook, L. Gallagher, M. Gill, J. Sutcliffe, A. Thurm, M. Zwick, A. Børglum, M. State, A. E. Cicek, M. Talkowski, D. Cutler, B. Devlin, Stephan J Sanders, K. Roeder, M. Daly, J. Buxbaum, B. Aleksic, R. Anney, M. Barbosa, S. Bishop, A. Brusco, J. Bybjerg-Grauholm, Á. Carracedo, M. Chan, A. Chiocchetti, B. Chung, H. Coon, M. Cuccaro, Aurora Curró, B. Bernardina, Ryan N. Doan, E. Domenici, Shan Dong, C. Fallerini, M. Fernández-Prieto, G. Ferrero, C. Freitag, M. Fromer, J. Gargus, D. Geschwind, E. Giorgio, J. González-Peñas, Stephen J. Guter, D. Halpern, Emily Hansen-Kiss, Xin He, G. Herman, I. Hertz-Picciotto, D. Hougaard, C. Hultman, I. Ionita-Laza, Suma Jacob, J. Jamison, A. Jugessur, Miia Kaartinen, G. Knudsen, A. Kolevzon, I. Kushima, S. L. Lee, T. Lehtimäki, Elaine T. Lim, Carla Lintas, W. Lipkin, D. Lopergolo, F. Lopes, Yunin J. Ludeña, P. Maciel, P. Magnus, B. Mahjani, N. Maltman, D. Manoach, G. Meiri, I. Menashe, Judith S Miller, N. Minshew, Eduarda M.S. Montenegro, D. Moreira, E. Morrow, O. Mors, P. Mortensen, Matthew W. Mosconi, P. Muglia, B. Neale, M. Nordentoft, N. Ozaki, A. Palotie, M. Parellada, M. Passos-Bueno, M. Pericak-Vance, A. Persico, Isaac Pessah, K. Puura, A. Reichenberg, A. Renieri, E. Riberi, E. Robinson, K. Samocha, S. Sandin, S. Santangelo, G. Schellenberg, S. Scherer, S. Schlitt, R. Schmidt, Lauren M. Schmitt, I. M. Silva, T. Singh, P. Siper, Moyra J. Smith, G. Soares, C. Stoltenberg, P. Surén, E. Susser, J. Sweeney, P. Szatmari, Lara Tang, F. Tassone, K. Teufel, E. Trabetti, M. P. Trelles, C. Walsh, L. Weiss, T. Werge, Donna M. Werling, Emilie M. Wigdor, E. Wilkinson, A. Willsey, T. Yu, M. Yu, R. Yuen, E. Zachi, E. Agerbo, T. Als, V. Appadurai, Marie Bækvad-Hansen, R. Belliveau, A. Buil, C. Carey, Felecia Cerrato, K. Chambert, C. Churchhouse, S. Dalsgaard, D. Demontis, Ashley L. Dumont, J. Goldstein, C. Hansen, M. Hauberg, M. Hollegaard, D. Howrigan, Hailiang Huang, J. Maller, Alicia R. Martin, Joanna Martin, M. Mattheisen, J. Moran, Jonatan Pallesen, D. Palmer, C. Pedersen, M. Pedersen, T. Poterba, J. Poulsen, S. Ripke, A. Schork, W. Thompson, P. Turley, R. Walters +189 moresemanticscholar +1 more sourceAbnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre +11 morewiley +1 more source
