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Impact of integrated translational research on clinical exome sequencing (vol 23, pg 498, 2021) Klee, Eric W.; Cousin, Margot A.; Vairo, Filippo Pinto e; Morales-Rosado, Joel A.; Macke, Erica L.; Jenkinson, W. Garrett; Ferrer, Alejandro; Schultz-Rogers, Laura E.; Olson, Rory J.; Oliver, Gavin R.; Sigafoos, Ashley N.; Schwab, Tanya L.; Zimmermann, Michael T.; Urrutia, Raul A.; Kaiwar, Charu; Gupta, Aditi; Blackburn, Patrick R.; Boczek, Nicole J.; Prochnow, Carri A.; Lowy, Rebecca J.; Mulvihill, Lindsay A.; McAllister, Tammy M.; Aoudia, Stacy L.; Kruisselbrink, Teresa M.; Gunderson, Lauren B.; Kemppainen, Jennifer L.; Fisher, Laura J.; Tarnowski, Jessica M.; Hager, Megan M.; Kroc, Sarah A.; Bertsch, Nicole L.; Agre, Katherine E.; Jackson, Jessica L.; Macklin-Mantia, Sarah K.; Murphree, Marine I.; Rust, Laura M.; Bolster, Jolene M. Summer; Beck, Scott A.; Atwal, Paldeep S.; Ellingson, Marissa S.; Barnett, Sarah S.; Rasmussen, Kristen J.; Lahner, Carrie A.; Niu, Zhiyv; Hasadsri, Linda; Ferber, Matthew J.; Marcou, Cherisse A.; Clark, Karl J.; Pichurin, Pavel N.; Deyle, David R.; Morava-Kozicz, Eva; Gavrilova, Ralitza H.; Dhamija, Radhika; Wierenga, Klaas J.; Lanpher, Brendan C.; Babovic-Vuksanovic, Dusica; Farrugia, Gianrico; Schimmenti, Lisa A.; Stewart, A. Keith; Lazaridis, Konstantinos N. 分享 收藏
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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome Stephenson, Sarah E. M.; Costain, Gregory; Blok, Laura E. R.; Silk, Michael A.; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E.; Dowling, James J.; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z.; Rodan, Lance H.; Schwartz, Marc A.; Picker, Jonathan; Lynch, Sally A.; Gupta, Aditi; Rasmussen, Kristen J.; Schimmenti, Lisa A.; Klee, Eric W.; Niu, Zhiyv; Agre, Katherine E.; Chilton, Ilana; Chung, Wendy K.; Revah-Politi, Anya; Au, P. Y. Billie; Griffith, Christopher; Racobaldo, Melissa; Raas-Rothschild, Annick; Ben Zeev, Bruria; Barel, Ortal; Moutton, Sebastien; Morice-Picard, Fanny; Carmignac, Virginie; Cornaton, Jenny; Marle, Nathalie; Devinsky, Orrin; Stimach, Chandler; Wechsler, Stephanie Burns; Hainline, Bryan E.; Sapp, Katie; Willems, Marjolaine; Bruel, Angeline; Dias, Kerith-Rae; Evans, Carey-Anne; Roscioli, Tony; Sachdev, Rani; Temple, Suzanna E. L.; Zhu, Ying; Baker, Joshua J.; Scheffer, Ingrid E.; Gardiner, Fiona J.; Schneider, Amy L.; Muir, Alison M.; Mefford, Heather C.; Crunk, Amy; Heise, Elizabeth M.; Millan, Francisca; Monaghan, Kristin G.; Person, Richard; Rhodes, Lindsay; Richards, Sarah; Wentzensen, Ingrid M.; Cogne, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Vincent, Marie; Besnard, Thomas; Piton, Amelie; Marcelis, Carlo; Kato, Kohji; Koyama, Norihisa; Ogi, Tomoo; Goh, Elaine Suk-Ying; Richmond, Christopher; Amor, David J.; Boyce, Jessica O.; Morgan, Angela T.; Hildebrand, Michael S.; Kaspi, Antony; Bahlo, Melanie; Fridriksdottir, Run; Katrinardottir, Hildigunnur; Sulem, Patrick; Stefansson, Kari; Bjornsson, Hans Tomas; Mandelstam, Simone; Morleo, Manuela; Mariani, Milena; Scala, Marcello; Accogli, Andrea; Torella, Annalaura; Capra, Valeria; Wallis, Mathew; Jansen, Sandra; Waisfisz, Quinten; de Haan, Hugoline; Sadedin, Simon; Lim, Sze Chern; White, Susan M.; Ascher, David B.; Schenck, Annette; Lockhart, Paul J.; Christodoulou, John; Tan, Tiong Yang 分享 收藏
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Impact of integrated translational research on clinical exome sequencing Klee, Eric W.; Cousin, Margot A.; Vairo, Filippo Pinto e; Morales-Rosado, Joel A.; Macke, Erica L.; Jenkinson, W. Garrett; Ferrer, Alejandro; Schultz-Rogers, Laura E.; Olson, Rory J.; Oliver, Gavin R.; Sigafoos, Ashley N.; Schwab, Tanya L.; Zimmermann, Michael T.; Urrutia, Raul A.; Kaiwar, Charu; Gupta, Aditi; Blackburn, Patrick R.; Boczek, Nicole J.; Prochnow, Carri A.; Lowy, Rebecca J.; Mulvihill, Lindsay A.; McAllister, Tammy M.; Aoudia, Stacy L.; Kruisselbrink, Teresa M.; Gunderson, Lauren B.; Kemppainen, Jennifer L.; Fisher, Laura J.; Tarnowski, Jessica M.; Hager, Megan M.; Kroc, Sarah A.; Bertsch, Nicole L.; Agre, Katherine E.; Jackson, Jessica L.; Macklin-Mantia, Sarah K.; Murphree, Marine, I; Rust, Laura M.; Bolster, Jolene M. Summer; Beck, Scott A.; Atwal, Paldeep S.; Ellingson, Marissa S.; Barnett, Sarah S.; Rasmussen, Kristen J.; Lahner, Carrie A.; Niu, Zhiyv; Hasadsri, Linda; Ferber, Matthew J.; Marcou, Cherisse A.; Clark, Karl J.; Pichurin, Pavel N.; Deyle, David R.; Morava-Kozicz, Eva; Gavrilova, Ralitza H.; Dhamija, Radhika; Wierenga, Klaas J.; Lanpher, Brendan C.; Babovic-Vuksanovic, Dusica; Farrugia, Gianrico; Schimmenti, Lisa A.; Stewart, A. Keith; Lazaridis, Konstantinos N. 分享 收藏
Mycobacterium tuberculosis progresses through two phases of latent infection in humans Colangeli, Roberto; Gupta, Aditi; Vinhas, Solange Alves; Chippada Venkata, Uma Deepthi; Kim, Soyeon; Grady, Courtney; Jones-Lopez, Edward C.; Soteropoulos, Patricia; Palaci, Moises; Marques-Rodrigues, Patricia; Salgame, Padmini; Ellner, Jerrold J.; Dietze, Reynaldo; Alland, David 分享 收藏
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy NR4A2的从头变体与神经发育障碍和癫痫有关 Singh, Sakshi; Gupta, Aditi; Zech, Michael; Sigafoos, Ashley N.; Clark, Karl J.; Dincer, Yasemin; Wagner, Matias; Humberson, Jennifer B.; Green, Sarah; van Gassen, Koen; Brandt, Tracy; Schnur, Rhonda E.; Millan, Francisca; Si, Yue; Mall, Volker; Winkelmann, Juliane; Gavrilova, Ralitza H.; Klee, Eric W.; Engleman, Kendra; Safina, Nicole P.; Slaugh, Rachel; Bryant, Emily M.; Tan, Wen-Hann; Granadillo, Jorge; Misra, Sunita N.; Schaefer, G. Bradley; Towner, Shelley; Brilstra, Eva H.; Koeleman, Bobby P. C. 分享 收藏
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum Konrad, Enrico D. H.; Nardini, Niels; Caliebe, Almuth; Nagel, Inga; Young, Dana; Horvath, Gabriella; Santoro, Stephanie L.; Shuss, Christine; Ziegler, Alban; Bonneau, Dominique; Kempers, Marlies; Pfundt, Rolph; Legius, Eric; Bouman, Arjan; Stuurman, Kyra E.; Ounap, Katrin; Pajusalu, Sander; Wojcik, Monica H.; Vasileiou, Georgia; Le Guyader, Gwenael; Schnelle, Hege M.; Berland, Siren; Zonneveld-Huijssoon, Evelien; Kersten, Simone; Gupta, Aditi; Blackburn, Patrick R.; Ellingson, Marissa S.; Ferber, Matthew J.; Dhamija, Radhika; Klee, Eric W.; McEntagart, Meriel; Lichtenbelt, Klaske D.; Kenney, Amy; Vergano, Samantha A.; Abou Jamra, Rami; Platzer, Konrad; Pierpont, Mary Ella; Khattar, Divya; Hopkin, Robert J.; Martin, Richard J.; Jongmans, Marjolijn C. J.; Chang, Vivian Y.; Martinez-Agosto, Julian A.; Kuismin, Outi; Kurki, Mitja, I; Pietilainen, Olli; Palotie, Aarno; Maarup, Timothy J.; Johnson, Diana S.; Pedersen, Katja Venborg; Laulund, Lone W.; Lynch, Sally A.; Blyth, Moira; Prescott, Katrina; Canham, Natalie; Ibitoye, Rita; Brilstra, Eva H.; Shinawi, Marwan; Fassi, Emily; Sticht, Heinrich; Gregor, Anne; Van Esch, Hilde; Zweier, Christiane 分享 收藏
Synergistic Lethality of a Binary Inhibitor of Mycobacterium tuberculosis KasA Kumar, Pradeep; Capodagli, Glenn C.; Awasthi, Divya; Shrestha, Riju; Maharaja, Karishma; Sukheja, Paridhi; Li, Shao-Gang; Inoyama, Daigo; Zimmerman, Matthew; Liang, Hsin Pin Ho; Sarathy, Jansy; Mina, Marizel; Rasic, George; Russo, Riccardo; Perryman, Alexander L.; Richmann, Todd; Gupta, Aditi; Singleton, Eric; Verma, Sheetal; Husain, Seema; Soteropoulos, Patricia; Wang, Zhe; Morris, Roxanne; Porter, Gene; Agnihotri, Gautam; Salgame, Padmini; Ekins, Sean; Rhee, Kyu Y.; Connell, Nancy; Dartois, Veronique; Neiditch, Matthew B.; Freundlich, Joel S.; Alland, David 分享 收藏
Bacterial Factors That Predict Relapse after Tuberculosis Therapy Colangeli, R.; Jedrey, H.; Kim, S.; Connell, R.; Ma, S.; Venkata, U. D. Chippada; Chakravorty, S.; Gupta, A.; Sizemore, E. E.; Diem, L.; Sherman, D. R.; Okwera, A.; Dietze, R.; Boom, W. H.; Johnson, J. L.; Mac Kenzie, W. R.; Alland, D. 分享 收藏
Asparagine synthetase deficiency-report of a novel mutation and review of literature (vol 32, pg 1900, 2017) 天冬酰胺合成酶缺乏症-新突变的报告和文献综述 (第32卷，1900页，2017) Gupta, Neerja; Tewari, Vishal Vishnu; Kumar, Manoj; Langeh, Nitika; Gupta, Aditi; Mishra, Pallavi; Kaur, Punit; Ramprasad, Vedam; Murugan, Sakthivel; Kumar, Reema; Jana, Manisha; Kabra, Madhulika 分享 收藏
Asparagine Synthetase deficiency-report of a novel mutation and review of literature 天冬酰胺合成酶缺乏症-一个新突变的报告和文献综述 Gupta, Neerja; Tewari, Vishal Vishnu; Kumar, Manoj; Langeh, Nitika; Gupta, Aditi; Mishra, Pallavi; Kaur, Punit; Ramprasad, Vedam; Murugan, Sakthivel; Kumar, Reema; Jana, Manisha; Kabra, Madhulika 分享 收藏
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