نتائج البحث - Aashish N. Adhikari

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  1. 1
    De novo prediction of protein folding pathways and structure using the principle of sequential stabilization

    De novo prediction of protein folding pathways and structure using the principle of sequential stabilization حسب Aashish N. Adhikari, Karl F. Freed, Tobin R. Sosnick

    منشور في 2012
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  2. 2
    The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health

    The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health حسب Audrey C. Woerner, Renata C. Gallagher, Jerry Vockley, Aashish N. Adhikari

    منشور في 2021
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  3. 3
    ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden

    ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden حسب Andrew G. Sharo, Yangyun Zou, Aashish N. Adhikari, Steven E. Brenner

    منشور في 2023
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  4. 4
    Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant <i>BCL11B</i>

    Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant <i>BCL11B</i> حسب Divya Punwani, Yong Zhang, Jason Yu, Morton J. Cowan, Sadhna Rana, Antonia Kwan, Aashish N. Adhikari, Carlos O. Lizama, Bryce A. Mendelsohn, Shawn P. Fahl, Ajithavalli Chellappan, Rajgopal Srinivasan, Steven E. Brenner, David L. Wiest, Jennifer M. Puck

    منشور في 2016
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  5. 5
    Opportunities and challenges for the computational interpretation of rare variation in clinically important genes

    Opportunities and challenges for the computational interpretation of rare variation in clinically important genes حسب Gregory McInnes, Andrew G. Sharo, Megan L. Koleske, Julia E. H. Brown, Matthew Norstad, Aashish N. Adhikari, Sheng Wang, Steven E. Brenner, Jodi Halpern, Barbara A. Koenig, David Magnus, Renata C. Gallagher, Kathleen M. Giacomini, Russ B. Altman

    منشور في 2021
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  6. 6
    Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay

    Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay حسب Dustin Shigaki, Orit Adato, Aashish N. Adhikari, Shengcheng Dong, Alex Hawkins‐Hooker, Fumitaka Inoue, Tamar Juven‐Gershon, Henry Kenlay, Beth Martin, Ayoti Patra, Dmitry Penzar, Max Schubach, Chenling Xiong, Zhongxia Yan, Alan P. Boyle, Anat Kreimer, Ivan V. Kulakovskiy, John E. Reid, Ron Unger, Nir Yosef, Jay Shendure, Nadav Ahituv, Martin Kircher, M Beer

    منشور في 2019
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  7. 7
    The role of exome sequencing in newborn screening for inborn errors of metabolism

    The role of exome sequencing in newborn screening for inborn errors of metabolism حسب Aashish N. Adhikari, Renata C. Gallagher, Yaqiong Wang, Robert J. Currier, George S. Amatuni, Laia Bassaganyas, Flavia Chen, Kunal Kundu, Mark Kvale, Sean D. Mooney, Robert L. Nussbaum, Savanna S. Randi, Jeremy R. Sanford, Joseph T.C. Shieh, Rajgopal Srinivasan, Uma Sunderam, Hao Tang, Dedeepya Vaka, Yangyun Zou, Barbara A. Koenig, Pui‐Yan Kwok, Neil Risch, Jennifer M. Puck, Steven E. Brenner

    منشور في 2020
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  8. 8
    The landscape of tolerated genetic variation in humans and primates

    The landscape of tolerated genetic variation in humans and primates حسب Hong Gao, Tobias Hamp, Jeffrey M. Ede, Joshua G. Schraiber, Jeremy F. McRae, Moriel Singer‐Berk, Yanshen Yang, Anastasia Dietrich, Petko Fiziev, Lukas F. K. Kuderna, Laksshman Sundaram, Yibing Wu, Aashish N. Adhikari, Yair Field, Chen Chen, Serafim Batzoglou, François Aguet, Gabrielle Lemire, Rebecca Reimers, Daniel J. Balick, Mareike C. Janiak, Martin Kuhlwilm, Joseph D. Orkin, Shivakumara Manu, Alejandro Valenzuela, Juraj Bergman, Marjolaine Rouselle, Felipe Ennes Silva, Lídia Águeda, Julie Blanc, Marta Gut, Dorien de Vries, Ian Goodhead, R. Alan Harris, Muthuswamy Raveendran, Axel Jensen, Idriss S. Chuma, Julie E. Horvath, Christina Hvilsom, David Juan, Peter Frandsen, Fabiano Rodrigues de Melo, Fabrício Bertuol, Hazel Byrne, Iracilda Sampaio, Izeni Pires Farias, João Valsecchi, Mariluce Rezende Messias, Maria Nazareth Ferreira da Silva, Mihir Trivedi, Rogério Vieira Rossi, Tomas Hrbek, Nicole Andriaholinirina, C. Rabarivola, Alphonse Zaramody, Clifford J. Jolly, Jane E. Phillips‐Conroy, Gregory K. Wilkerson, Christian R. Abee, Joe H. Simmons, Eduardo Fernández‐Duque, ee Kanthaswamy, Fekadu Shiferaw, Dong‐Dong Wu, Long Zhou, Yong Shao, Guojie Zhang, Julius D. Keyyu, Sascha Knauf, Minh Đức Lê, Esther Lizano, Stefan Merker, Arcadi Navarro, Thomas Batallion, Tilo Nadler, Chiea Chuen Khor, Jessica Lee, Patrick Tan, Weng Khong Lim, Andrew C. Kitchener, Dietmar Zinner, Marta Gut, Amanda Melin, Katerina Guschanski, Mikkel Heide Schierup, Robin M. D. Beck, Govindhaswamy Umapathy, Christian Roos, Jean P. Boubli, Monkol Lek, Shamil Sunyaev, Anne O’Donnell‐Luria, Heidi L. Rehm, Jinbo Xu, Jeffrey Rogers, Tomàs Marquès‐Bonet, Kyle Kai‐How Farh

    منشور في 2023
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  9. 9
    The landscape of tolerated genetic variation in humans and primates

    The landscape of tolerated genetic variation in humans and primates حسب Hong Gao, Tobias Hamp, Jeffrey M. Ede, Joshua G. Schraiber, Jeremy F. McRae, Moriel Singer‐Berk, Yanshen Yang, Anastasia S. D. Dietrich, Petko Fiziev, Lukas F. K. Kuderna, Laksshman Sundaram, Yibing Wu, Aashish N. Adhikari, Yair Field, Chen Chen, Serafim Batzoglou, François Aguet, Gabrielle Lemire, Rebecca Reimers, Daniel J. Balick, Mareike C. Janiak, Martin Kuhlwilm, Joseph D. Orkin, Shivakumara Manu, Alejandro Valenzuela, Juraj Bergman, Marjolaine Rousselle, Felipe Ennes Silva, Lídia Águeda, Julie Blanc, Marta Gut, Dorien de Vries, Ian Goodhead, R. Alan Harris, Muthuswamy Raveendran, Axel Jensen, Idriss S. Chuma, Julie E. Horvath, Christina Hvilsom, David Juan, Peter Frandsen, Fabiano Rodrigues de Melo, Fabrício Bertuol, Hazel Byrne, Iracilda Sampaio, Izeni Pires Farias, João Valsecchi, Mariluce Rezende Messias, Maria Nazareth Ferreira da Silva, Mihir Trivedi, Rogério Vieira Rossi, Tomas Hrbek, Nicole Andriaholinirina, C. Rabarivola, Alphonse Zaramody, Clifford J. Jolly, Jane E. Phillips‐Conroy, Gregory K. Wilkerson, Christian R. Abee, Joe H. Simmons, Eduardo Fernández‐Duque, Sree Kanthaswamy, Fekadu Shiferaw, Dong‐Dong Wu, Long Zhou, Yong Shao, Guojie Zhang, Julius D. Keyyu, Sascha Knauf, Minh Đức Lê, Esther Lizano, Stefan Merker, Arcadi Navarro, Thomas Bataillon, Tilo Nadler, Chiea Chuen Khor, Jessica Lee, Patrick Tan, Weng Khong Lim, Andrew C. Kitchener, Dietmar Zinner, Marta Gut, Amanda Melin, Katerina Guschanski, Mikkel Heide Schierup, Robin M. D. Beck, Govindhaswamy Umapathy, Christian Roos, Jean P. Boubli, Monkol Lek, Shamil Sunyaev, Anne O’Donnell‐Luria, Heidi L. Rehm, Jinbo Xu, Jeffrey Rogers, Tomàs Marquès‐Bonet, Kyle Kai‐How Farh

    منشور في 2023
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  10. 10
    CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

    CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods حسب Shantanu Jain, Constantina Bakolitsa, Steven E. Brenner, Predrag Radivojac, John Moult, Susanna Repo, Roger A. Hoskins, Gaia Andreoletti, Daniel Barsky, Ajithavalli Chellapan, Hoyin Chu, Navya Dabbiru, Naveen K. Kollipara, Melissa Ly, Andrew J. Neumann, Lipika R. Pal, Eric Odell, Gaurav Pandey, Robin C. Peters-Petrulewicz, Rajgopal Srinivasan, Stephen F. Yee, Sri Jyothsna Yeleswarapu, Maya Zuhl, Ogün Adebalı, Ayoti Patra, M Beer, Raghavendra Hosur, Jian Peng, Brady Bernard, M. Victoria Berry, Shengcheng Dong, Alan P. Boyle, Aashish N. Adhikari, Jingqi Chen, Zhiqiang Hu, Robert Wang, Yaqiong Wang, Max J. Miller, Yanran Wang, Yana Bromberg, Paola Turina, Emidio Capriotti, James J. Han, Kıvılcım Öztürk, Hannah Carter, Giulia Babbi, Samuele Bovo, Pietro Di Lena, Pier Luigi Martelli, Castrense Savojardo, Rita Casadio, Melissa Cline, Greet De Baets, Sandra Bonache, Orland Dı́ez, Sara Gutiérrez‐Enríquez, Alejandro Fernández, Gemma Montalban, Lars Ootes, Selen Özkan, Natàlia Padilla, Casandra Riera, Xavier de la Cruz, Mark Diekhans, Peter J. Huwe, Qiong Wei, Qifang Xu, Roland L. Dunbrack, Valer Gotea, Laura Elnitski, Gennady Margolin, Piero Fariselli, Ivan V. Kulakovskiy, Vsevolod J. Makeev, Dmitry Penzar, Ilya E. Vorontsov, Alexander V. Favorov, Julia Forman, Marcia A. Hasenahuer, Marı́a Silvina Fornasari, Gustavo Parisi, Žiga Avsec, Muhammed Hasan Çelik, Thi Yen Duong Nguyen, Julien Gagneur, Fangyuan Shi, Matthew D. Edwards, Yuchun Guo, Kevin Tian, Haoyang Zeng, David K. Gifford, Jonathan Göke, Jan Zaucha, Julian Gough, Graham R. S. Ritchie, Adam Frankish, Jonathan M. Mudge, Jennifer Harrow, Erin L. Young, Yao Yu

    منشور في 2024
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