检索结果 - Thomas E. Mullen
- Showing 1 - 11 results of 11
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SnapShot-Seq: A Method for Extracting Genome-Wide, In Vivo mRNA Dynamics from a Single Total RNA Sample 由 Jesse Gray, David A. Harmin, Sarah A. Boswell, Nicole Cloonan, Thomas E. Mullen, Joseph J. Ling, Nimrod Miller, Scott Kuersten, Yongchao Ma, Steven A. McCarroll, Sean M. Grimmond, Michael Springer
出版 2014Artigo -
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Infant mortality: the contribution of genetic disorders 由 Monica H. Wojcik, Talia S. Schwartz, Katri Thiele, Heather Paterson, Rachel Stadelmaier, Thomas E. Mullen, Grace E. VanNoy, Casie A. Genetti, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Wen‐Hann Tan, Pankaj B. Agrawal
出版 2019Artigo -
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Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood 由 Simon Edvardson, Claudia M. Nicolae, Pankaj B. Agrawal, Cyril Mignot, Katelyn Payne, Asuri N. Prasad, Chitra Prasad, Laurie S. Sadler, Caroline Nava, Thomas E. Mullen, Amber Begtrup, Berivan Baskin, Zöe Powis, Avraham Shaag, Boris Keren, George‐Lucian Moldovan, Orly Elpeleg
出版 2017Artigo -
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Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing 由 Jill L. Maron, Stephen F. Kingsmore, Kristen Wigby, Shimul Chowdhury, David Dimmock, Brenda B. Poindexter, Kristen Suhrie, Jerry Vockley, Thomas G. Diacovo, Bruce D. Gelb, Annemarie Stroustrup, Cynthia M. Powell, Andrea Trembath, Matthew Gallen, Thomas E. Mullen, Pranoot Tanpaiboon, Dallas Reed, Anne Kurfiss, Jonathan M. Davis
出版 2021Artigo -
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Characterization of bipolar disorder patient-specific induced pluripotent stem cells from a family reveals neurodevelopmental and mRNA expression abnormalities 由 Jon M. Madison, Fangjian Zhou, Aparna Nigam, Ali Hussain, Douglas Barker, Ralda Nehme, Karlijn van der Ven, Jonathan Y. Hsu, Pavlina Wolf, Morgan Fleishman, C O'Dushlaine, Samuel A. Rose, Kimberly Chambert, Frank H. Lau, Tim Ahfeldt, Erroll H. Rueckert, Steven D. Sheridan, Daniel M. Fass, James Nemesh, Thomas E. Mullen, Laurence Dahéron, Steven A. McCarroll, Pamela Sklar, Roy H. Perlis, Stephen J. Haggarty
出版 2015Artigo -
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Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb... 由 Katherine Johnson, Marta Bértoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera‐Pruszczyk, Anna Potulska‐Chromik, Nicolas Deconinck, Carina Wallgren‐Pettersson, Sonja Strang‐Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández‐Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmuş, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub
出版 2018Artigo -
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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells 由 Davor Lessel, Christina Gehbauer, Nuria C. Bramswig, Caroline Schluth–Bolard, Sathish Venkataramanappa, Koen L.I. van Gassen, Maja Hempel, Tobias B. Haack, Anja Barešić, Casie A. Genetti, Mariana F.A. Funari, Ivana Lessel, Leonie Kuhlmann, Ruth Simon, Pentao Liu, Jonas Denecke, Alma Kuechler, Ineke de Kruijff, Moneef Shoukier, Monkol Lek, Thomas E. Mullen, Hermann-Josef Lüdecke, Antônio Marcondes Lerário, Robin Kobbe, Thorsten Krieger, Bénédicte Demeer, Marine Lebrun, Boris Keren, Caroline Nava, Julien Buratti, Alexandra Afenjar, Marwan Shinawi, María J. Guillen Sacoto, Julie Gauthier, Fadi F. Hamdan, Anne‐Marie Laberge, Philippe M. Campeau, Raymond J. Louie, Sara Cathey, Immo Prinz, Alexander A.L. Jorge, Paulien A. Terhal, Boris Lenhard, Dagmar Wieczorek, Tim M. Strom, Pankaj B. Agrawal, Stefan Britsch, Eva Tolosa, Christian Kubisch
出版 2018Artigo -
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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death 由 Alicia B. Byrne, Peer Arts, Thuong Ha, Karin S. Kassahn, Lynn Pais, Anne O’Donnell‐Luria, François Aguet, Harindra Arachchi, Christina Austin‐Tse, Lawrence Babb, Samantha Baxter, Harrison Brand, Jaime Chang, Katherine R. Chao, Ryan L. Collins, Beryl B. Cummings, Kayla Delano, Stephanie DiTroia, Eleina England, Emily Evangelista, Selin Everett, Laurent C. Francioli, Jack B. Fu, Vijay Ganesh, Kiran Garimella, Laura D. Gauthier, Julia K. Goodrich, Sanna Gudmundsson, Stacey J. Hall, Yongqing Huang, Steve Jahl, Kristen M. Laricchia, Kathryn E. Larkin, Monkol Lek, Gabrielle Lemire, Rachel B. Lipson, Alysia Kern Lovgren, Daniel G. MacArthur, Brian Mangilog, Stacy Mano, Jamie L. Marshall, Thomas E. Mullen, Kevin Nguyen, Emily O’Heir, Melanie O’Leary, Ikeoluwa Osei‐Owusu, Jorge Perez de Acha Chavez, Emma Pierce‐Hoffman, Heidi L. Rehm, Jillian Serrano, Moriel Singer‐Berk, Hana Snow, Matthew Solomonson, Rachel G. Son, Abigail Sveden, Michael E. Talkowski, Grace Tiao, Miriam S. Udler, Zaheer M. Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo Wang, Nicholas A. Watts, Ben Weisburd, Clara E. Williamson, Michael W. Wilson, Lauren Witzgall, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Shifa Zhang, Milena Babic, Mahalia S. B. Frank, Jinghua Feng, Paul Wang, David Lawrence, Leila Eshraghi, Luis Arriola, John Toubia, Van Hung Nguyen, Disna Abeysuriya, Lesley C. Adès, David J. Amor, Susan Arbuckle, Madhura Bakshi, Bligh Berry, Tiffany Boughtwood, Adam Bournazos, Alessandra Bray, Fiona Chan, Yuen Chan, Clara W. T. Chung, Jonathan R. Clark, Jackie Collett, Alison Colley, Felicity Collins, Sandra T. Cooper, Mark Corbett, Jane E. Dahlstrom, Peter A. Dargaville
出版 2023Artigo
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