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1Academic Journal
المؤلفون: Nicholas Carr, Luca Brunelli, Makenzie Fulmer, Jennifer Rumpel, Abhishek Makkar, Burhan Mahmood, Sarah Keene, Natalie Rintoul, K. Taylor Wild, Amir Ashrafi, Semsa Gogcu, Carrie Rau, David Pattison, Hunter Best, Steven Boyden, Rong Mao
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101099- (2024)
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Lucilla Pizzo, Tracey Lewis, Ashini Bolia, Brendan O'Fallon, Erica Andersen, Hunter Best
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101485- (2024)
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: Brendan O’Fallon, Jacob Durtschi, Ana Kellogg, Tracey Lewis, Devin Close, Hunter Best
المصدر: BMC Bioinformatics, Vol 23, Iss 1, Pp 1-14 (2022)
مصطلحات موضوعية: Copy number variants (CNV), Next generation sequencing, Hidden Markov model, Whole exome sequencing, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2105
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4Academic JournalP243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care
المؤلفون: Sabrina Malone-Jenkins, Brian Shayota, Chelsea Solorzano, Rachel Palmquist, Steven Boyden, Barry Moore, Thomas Nicholas, Rong Mao, Pinar Bayrak-Toydemir, Katherine Noble, Andrew Farrell, Edgar Hernandez, Shawn Rynearson, Carson Holt, Alistair Ward, Najla Al-Sweel, Jian Zhao, Makenzie Fulmer, Lucilla Pizzo, Ting Wen, John O'Shea, Robert Lewis, Hayley Reynolds, Eric Fredrickson, Kelsey Nicholson, David Pattison, Hunter Best, Luca Brunelli, Mark Yandell, Gabor Marth, Aaron Quinlan, John Carey, Martin Tristani-Firouzi, Joshua Bonkowsky
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100271- (2023)
وصف الملف: electronic resource
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5Academic Journal
المؤلفون: Barry Moore, Thomas Nicholas, Rong Mao, Brian Shayota, Steven Boyden, Chelsea Solorzano, Rachel Palmquist, Pinar Bayrak-Toydemir, Katherine Noble, Andrew Farrell, Edgar Hernandez, Shawn Rynearson, Carson Holt, Alistair Ward, Eric Fredrickson, Kelsey Nicholson, David Pattison, Jian Zhao, Makenzie Fulmer, Lucilla Pizzo, Ting Wen, John O'Shea, Robert Lewis, Hayley Reynolds, Betsy Ostrander, Hunter Best, Luca Brunelli, Mark Yandell, Gabor Marth, Aaron Quinlan, John Carey, Martin Tristani-Firouzi, Joshua Bonkowsky, Sabrina Malone-Jenkins
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100563- (2023)
وصف الملف: electronic resource
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6Academic Journal
المؤلفون: Scott Reading, Mohamed Jama, Pinar Bayrak-Toydemir, Hunter Best, Eric Fredrickson, Makenzie Fulmer, Rong Mao, Sherin Shaaban, Yuan Ji
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100589- (2023)
وصف الملف: electronic resource
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7Academic Journal
المؤلفون: Joseph Reiley, Pablo Botas, Christine E. Miller, Jian Zhao, Sabrina Malone Jenkins, Hunter Best, Peter H. Grubb, Rong Mao, Julián Isla, Luca Brunelli
المصدر: Children, Vol 10, Iss 6, p 991 (2023)
مصطلحات موضوعية: artificial intelligence, natural language processing, genomics, differential diagnosis, computer assisted diagnosis, electronic medical record, Pediatrics, RJ1-570
وصف الملف: electronic resource
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8Academic Journal
المؤلفون: Binsheng Gong, Dan Li, Rebecca Kusko, Natalia Novoradovskaya, Yifan Zhang, Shangzi Wang, Carlos Pabón-Peña, Zhihong Zhang, Kevin Lai, Wanshi Cai, Jennifer S. LoCoco, Eric Lader, Todd A. Richmond, Vinay K. Mittal, Liang-Chun Liu, Donald J. Johann, James C. Willey, Pierre R. Bushel, Ying Yu, Chang Xu, Guangchun Chen, Daniel Burgess, Simon Cawley, Kristina Giorda, Nathan Haseley, Fujun Qiu, Katherine Wilkins, Hanane Arib, Claire Attwooll, Kevin Babson, Longlong Bao, Wenjun Bao, Anne Bergstrom Lucas, Hunter Best, Ambica Bhandari, Halil Bisgin, James Blackburn, Thomas M. Blomquist, Lisa Boardman, Blake Burgher, Daniel J. Butler, Chia-Jung Chang, Alka Chaubey, Tao Chen, Marco Chierici, Christopher R. Chin, Devin Close, Jeffrey Conroy, Jessica Cooley Coleman, Daniel J. Craig, Erin Crawford, Angela del Pozo, Ira W. Deveson, Daniel Duncan, Agda Karina Eterovic, Xiaohui Fan, Jonathan Foox, Cesare Furlanello, Abhisek Ghosal, Sean Glenn, Meijian Guan, Christine Haag, Xinyi Hang, Scott Happe, Brittany Hennigan, Jennifer Hipp, Huixiao Hong, Kyle Horvath, Jianhong Hu, Li-Yuan Hung, Mirna Jarosz, Jennifer Kerkhof, Benjamin Kipp, David Philip Kreil, Paweł Łabaj, Pablo Lapunzina, Peng Li, Quan-Zhen Li, Weihua Li, Zhiguang Li, Yu Liang, Shaoqing Liu, Zhichao Liu, Charles Ma, Narasimha Marella, Rubén Martín-Arenas, Dalila B. Megherbi, Qingchang Meng, Piotr A. Mieczkowski, Tom Morrison, Donna Muzny, Baitang Ning, Barbara L. Parsons, Cloud P. Paweletz, Mehdi Pirooznia, Wubin Qu, Amelia Raymond, Paul Rindler, Rebecca Ringler, Bekim Sadikovic, Andreas Scherer, Egbert Schulze, Robert Sebra, Rita Shaknovich, Qiang Shi, Tieliu Shi, Juan Carlos Silla-Castro, Melissa Smith, Mario Solís López, Ping Song, Daniel Stetson, Maya Strahl, Alan Stuart, Julianna Supplee, Philippe Szankasi, Haowen Tan, Lin-ya Tang, Yonghui Tao, Shraddha Thakkar, Danielle Thierry-Mieg, Jean Thierry-Mieg, Venkat J. Thodima, David Thomas, Boris Tichý, Nikola Tom, Elena Vallespin Garcia, Suman Verma, Kimbley Walker, Charles Wang, Junwen Wang, Yexun Wang, Zhining Wen, Valtteri Wirta, Leihong Wu, Chunlin Xiao, Wenzhong Xiao, Shibei Xu, Mary Yang, Jianming Ying, Shun H. Yip, Guangliang Zhang, Sa Zhang, Meiru Zhao, Yuanting Zheng, Xiaoyan Zhou, Christopher E. Mason, Timothy Mercer, Weida Tong, Leming Shi, Wendell Jones, Joshua Xu
المصدر: Genome Biology, Vol 22, Iss 1, Pp 1-23 (2021)
مصطلحات موضوعية: Oncopanel sequencing, Target enrichment, Molecular diagnostics, Reproducibility, Analytical performance, Precision medicine, Biology (General), QH301-705.5, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1474-760X
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9Academic Journal
المؤلفون: Sabrina Malone Jenkins, Rachel Palmquist, Ashley L. Kapron, Carrie Torr, D. Hunter Best, Mary Anne Karren, Luca Brunelli, Mark Yandell, Martin Tristani-Firouzi, David Dimmock, Brian Watts, Jeffrey R. Botkin, Ann Johnson, Joshua L. Bonkowsky
المصدر: Journal of Clinical and Translational Science, Vol 5 (2021)
مصطلحات موضوعية: Medicine
Relation: https://www.cambridge.org/core/product/identifier/S2059866121008335/type/journal_article; https://doaj.org/toc/2059-8661; https://doaj.org/article/3306a7dcbdec461b8bf1fa13ee2cd96b
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10Academic Journal
المؤلفون: Brent S. Pedersen, Joe M. Brown, Harriet Dashnow, Amelia D. Wallace, Matt Velinder, Martin Tristani-Firouzi, Joshua D. Schiffman, Tatiana Tvrdik, Rong Mao, D. Hunter Best, Pinar Bayrak-Toydemir, Aaron R. Quinlan
المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-8 (2021)
Relation: https://doi.org/10.1038/s41525-021-00227-3; https://doaj.org/toc/2056-7944; https://doaj.org/article/709f6f141917434d9d3529666fde6ab7
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11
المصدر: Advances in Pulmonary Hypertension. 20:157-163
مصطلحات موضوعية: General Medicine
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12
المؤلفون: Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, Pinar Bayrak-Toydemir, Hunter Best, Rhonda Brandon, Jillian G Buchan, Elizabeth C Chao, Elaine Chen, Jacob Clifford, Ana S Cohen, Laura K Conlin, Soma Das, Kyle W Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia B Hammer, Steven M Harrison, Kathryn E Hatchell, Lindsay Havens Dyer, Lily U Hoang, James M Holt, Vaidehi Jobanputra, Izabela D Karbassi, Hutton M Kearney, Melissa A Kelly, Jacob M Kelly, Michelle L Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S Lebo, Christian R Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria K Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen J Rasmussen, Kyle Retterer, Carol J Saunders, Elizabeth Spiteri, Christine M Stanley, Anna Szuto, Ryan J Taft, Isabelle Thiffault, Brittany C Thomas, Amanda Thomas-Wilson, Erin Thorpe, Timothy J Tidwell, Meghan C Towne, Hana Zouk
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13
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14
المؤلفون: Rong Mao, Joseph Brown, Brent S. Pedersen, Harriet Dashnow, Amelia D. Wallace, Joshua D. Schiffman, Pinar Bayrak-Toydemir, Aaron R. Quinlan, D. Hunter Best, Tatiana Tvrdik, Martin Tristani-Firouzi, Matt Velinder
المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-8 (2021)
NPJ Genomic Medicineمصطلحات موضوعية: Population, Biology, QH426-470, Compound heterozygosity, Article, Deep sequencing, 03 medical and health sciences, 0302 clinical medicine, Genetics research, Genetics, SNP, Allele, education, Indel, Molecular Biology, Allele frequency, Exome, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, Sequence annotation, Medicine, 030217 neurology & neurosurgery
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15Evaluating the analytical validity of circulating tumor DNA sequencing assays for precision oncology
المؤلفون: Agda Karina Eterovic, Rebecca Ringler, Binsheng Gong, Jiashi Wang, Christopher E. Mason, Garima Kushwaha, Abhisek Ghosal, James C. Willey, Zhihong Zhang, Wenzhong Xiao, Natalia Novoradovskaya, Joshua Xu, Mary Yang, Zhiguang Li, Leihong Wu, Philippe Szankasi, Paul Rindler, Suman Verma, Simon Cawley, Daniel Stetson, Yilin Zhang, Fergal Casey, Nathan Haseley, Fujun Qiu, Paula Proszek, Mirna Jarosz, Ira W. Deveson, Kevin Lai, Donald J. Johann, Rebecca Kusko, Haowen Tan, Tim R. Mercer, Chia Jung Chang, Kristina Giorda, Tieliu Shi, Blake Burgher, Kyle Horvath, Leming Shi, Pierre R. Bushel, Guangchun Chen, Melissa Smith, Igor Stevanovski, Devin W. Close, Liang Feng, Lin-ya Tang, Liang-Chun Liu, Todd Richmond, Wendell D. Jones, Daniel Duncan, Andreas Scherer, Jorge Dinis, Chang Xu, Rita Shaknovich, Tom Morrison, Ping Song, Nikola Tom, Weida Tong, Quan Zhen Li, Lihyun Sun, Charles Ma, Dalila B. Megherbi, Robert Sebra, Sean Glenn, Narasimha Marella, Ambica Bhandari, Jennifer S. LoCoco, Zhichao Liu, Jeoffrey Schageman, Mehdi Pirooznia, Scott Happe, Hanane Arib, Maya Strahl, Dan Li, Hunter Best, Venkat J. Thodima, Amelia Raymond, Jeffrey Conroy, Mike Hubank, Piotr A. Mieczkowski, Carlos Pabón-Peña, James Blackburn, Li-Yuan Hung, Sa Zhang, Bindu Swapna Madala, Guangliang Zhang, Jonathan Choi
المصدر: Nature biotechnology
مصطلحات موضوعية: Validation study, Biomedical Engineering, Bioengineering, Computational biology, Biology, Medical Oncology, Applied Microbiology and Biotechnology, Article, Circulating Tumor DNA, 03 medical and health sciences, 0302 clinical medicine, Synthetic DNA, Limit of Detection, Neoplasms, Proficiency testing, False positive paradox, Humans, Precision Medicine, 030304 developmental biology, 0303 health sciences, Reproducibility, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Variant allele, Sequence Analysis, DNA, Precision oncology, Circulating tumor DNA, Practice Guidelines as Topic, Molecular Medicine, 030217 neurology & neurosurgery, Biotechnology
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16
المؤلفون: Brian Watts, Luca Brunelli, Jeffrey R. Botkin, Ashley L. Kapron, Rachel Palmquist, David Dimmock, D. Hunter Best, Carrie B. Torr, Joshua L. Bonkowsky, Sabrina Malone Jenkins, Mark Yandell, Mary Anne Karren, Martin Tristani-Firouzi, Ann Johnson
المصدر: Journal of Clinical and Translational Science
مصطلحات موضوعية: Whole genome sequencing, Protocol (science), Process management, business.industry, Brief Report, MEDLINE, Educational Innovations for Teaching Clinical and Translational Science, Research Methods and Technology, General Medicine, Phase (combat), Test (assessment), Laboratory Certification, Medicine, Research development, Return of results, business
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17
المؤلفون: Juliette Nectoux, Isabelle Nelson, Hunter Best, Anne-Sophie Lia, Cécile Masson, Lucie Guyant-Maréchal, Jean Michel Pedespan, Karima Ghorab, Marie Anne Barthez, Youna Ha, Jean-François Deleuze, Rong Mao, Cécile Laroche-Raynaud, Kathryn J. Swoboda, Xavier Hernandorena, Yue Si, Annick Toutain, Louis Viollet
المساهمون: University of Utah School of Medicine [Salt Lake City], Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Hôpital Charles Nicolle [Rouen], CHU Limoges, Hôpital Dupuytren [CHU Limoges], Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Le CHCB, Centre Hospitalier de la Côte Basque, Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre National de Génotypage (CNG), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Centre Hospitalier de la Côte Basque (CHCB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)
المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, 63 (12), pp.104063. ⟨10.1016/j.ejmg.2020.104063⟩
European Journal of Medical Genetics, 2020, 63 (12), pp.104063. ⟨10.1016/j.ejmg.2020.104063⟩مصطلحات موضوعية: Adult, Cytoplasmic Dyneins, Male, 0301 basic medicine, Heterozygote, Adolescent, [SDV]Life Sciences [q-bio], Mutation, Missense, 030105 genetics & heredity, Biology, Hyperreflexia, Lower motor neuron, Muscular Atrophy, Spinal, Upper Extremity, 03 medical and health sciences, Spinal muscular atrophies, Next generation sequencing, Reflex, Genetics, medicine, Humans, Exome, Child, Muscle, Skeletal, Genetics (clinical), Motor Neurons, Upper motor neuron, DYNC1H1, General Medicine, Spinal muscular atrophy, Middle Aged, medicine.disease, Penetrance, Pedigree, 3. Good health, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Upper motor neuron syndrome, Lower Extremity, Child, Preschool, Chromosomal region, Female, medicine.symptom
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18
المؤلفون: Amelia D. Wallace, Matt Velinder, Aaron R. Quinlan, Rong Mao, Brent S. Pedersen, Harriet Dashnow, Hunter Best, Joseph Brown, Pinar Bayrak-Toydemir, Tatiana Tvrdik
مصطلحات موضوعية: education.field_of_study, Genotype, Population, SNP, Computational biology, Allele, Biology, education, Indel, Exome, Allele frequency, Genome
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19
المؤلفون: Josue Flores-Daboub, Dave Viskochil, Sarah L. Dugan, Hunter Best, Wei Shen, Rong Mao
المصدر: Journal of Medical Genetics. 57:794-796
مصطلحات موضوعية: Male, 0301 basic medicine, Class I Phosphatidylinositol 3-Kinases, Somatic cell, MAP Kinase Kinase 1, 030105 genetics & heredity, Proto-Oncogene Proteins p21(ras), 03 medical and health sciences, Genetics, GNAS complex locus, Humans, Medicine, Genetic Predisposition to Disease, Megalencephaly, Child, Genetics (clinical), biology, Polydactyly, GNA11, Mosaicism, business.industry, Genetic Variation, High-Throughput Nucleotide Sequencing, medicine.disease, GTP-Binding Protein alpha Subunits, Proteus syndrome, 030104 developmental biology, Child, Preschool, Mutation, biology.protein, Cancer research, Female, business, Cell-Free Nucleic Acids, GNAQ, CLOVES syndrome
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20Academic Journal
المؤلفون: Kelli Sumner, David K. Crockett, Talia Muram, Kalyan Mallempati, Hunter Best, Rong Mao
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/b1/32/G3_(Bethesda)_2011_Nov_1_1(6)_451-456.tar.gz
وصف الملف: application/zip