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Using the Sankey diagram to visualize article features on the topics of whole-exome sequencing (WES) and whole-genome sequencing (WGS) since 2012: Bibliometric analysis
Li, Meng-Ju, Chien, Tsair-Wei, Liao, Kuang-Wen, Lai, Feng-Jie
Published in Medicine (Baltimore) (23.09.2022)
Published in Medicine (Baltimore) (23.09.2022)
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Journal Article
Rare ocular toxicity induced by pertuzumab/QL1209 in healthy chinese subjects: case reports and whole-exome sequencing analysis
Ma, Junlong, Chen, Wenjing, Hu, Zhanqing, Huang, Jie, Guo, Chengxian, Zou, Chan, Yang, Guoping
Published in Investigational new drugs (01.08.2022)
Published in Investigational new drugs (01.08.2022)
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Journal Article
Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES)
Liu, Yong, Cao, Yu, Li, Yaxiong, Lei, Dongyun, Li, Lin, Hou, Zong Liu, Han, Shen, Meng, Mingyao, Shi, Jianlin, Zhang, Yayong, Wang, Yi, Niu, Zhaoyi, Xie, Yanhua, Xiao, Benshan, Wang, Yuanfei, Li, Xiao, Yang, Lirong, Wang, Wenju, Jiang, Lihong
Published in Medical science monitor (05.03.2018)
Published in Medical science monitor (05.03.2018)
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Journal Article
High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the “Réunion Paradox”
Chacon-Camacho, O.F., Astiazarán, M.C., Vera-Duarte, G., Gutiérrez-Múgica, H., Macriz-Romero, N., Graue-Hernandez, E.O., Zenteno, J.C.
Published in European journal of medical genetics (01.10.2023)
Published in European journal of medical genetics (01.10.2023)
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Journal Article
Whole exome sequencing reveals the different responsiveness to Enterovirus 71 vaccination in Chinese children
Zhang, Li, Yu, Chengxiao, Ge, Zijun, Tao, Hong, Meng, Fanyue, Xu, Xin, Tian, Ting, Song, Ci, Hu, Zhibin, Li, Jingxin, Zhu, Fengcai
Published in International journal of infectious diseases (01.08.2020)
Published in International journal of infectious diseases (01.08.2020)
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Journal Article
Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan
Chien, Yin-Hsiu, Lee, Ni-Chung, Weng, Wen-Chin, Chen, Li-Chu, Huang, Yu-Hsuan, Wu, Chao-Szu, Hwu, Wuh-Liang
Published in Neurological sciences (01.07.2022)
Published in Neurological sciences (01.07.2022)
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Journal Article
A Novel Rare Missense Variation of the NOD2 Gene: Evidencesof Implication in Crohn's Disease
Frade-Proud'Hon-Clerc, Sara, Smol, Thomas, Frenois, Frédéric, Sand, Olivier, Vaillant, Emmanuel, Dhennin, Véronique, Bonnefond, Amélie, Froguel, Philippe, Fumery, Mathurin, Guillon-Dellac, Nathalie, Gower-Rousseau, Corinne, Vasseur, Francis
Published in International journal of molecular sciences (15.02.2019)
Published in International journal of molecular sciences (15.02.2019)
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Journal Article
Fuzzy PD-sliding mode control design for networked system with time delays
Aslam, Muhammad Shamrooz, Shamrooz, Summera, Bilal, Hazrat
Published in European journal of control (01.07.2024)
Published in European journal of control (01.07.2024)
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Journal Article
Exome sequencing in genuine empty follicle syndrome: Novel candidate genes
Lledó, Belen, Piqueras, Juan J., Lozano, Francisca M., Hortal, Mónica, Morales, Ruth, Ortiz, José A., Guerrero, Jaime, Benabeu, Andrea, Bernabeu, Rafael
Published in European journal of obstetrics & gynecology and reproductive biology (01.06.2024)
Published in European journal of obstetrics & gynecology and reproductive biology (01.06.2024)
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Journal Article
Combined clinical and genomic analysis uncovers neonatal-onset Wilson disease in two siblings with idiopathic cholestasis
Khabou, Boudour, Guirat, Manel, Hsairi, Manel, Gargouri, Lamia, Charfi, Slim, Kacem, Mohamed Hadj, Boudawara, Tahia, Kammoun, Hassen, Fakhfakh, Faiza, Kacem, Hassen Hadj
Published in Clinica chimica acta (01.01.2026)
Published in Clinica chimica acta (01.01.2026)
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Journal Article
Rare variant analyses in large-scale cohorts identified SLC13A1 associated with chronic pain
Ao, Xiang, Parisien, Marc, Zidan, Maha, Grant, Audrey V., Martinsen, Amy E., Winsvold, Bendik S., Diatchenko, Luda
Published in Pain (Amsterdam) (01.08.2023)
Published in Pain (Amsterdam) (01.08.2023)
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Journal Article
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
Picchiotti, Nicola, Fava, Francesca, Fallerini, Chiara, Benetti, Elisa, Valentino, Floriana, Furini, Simone, Amitrano, Sara, Bruttini, Mirella, Meloni, Ilaria, Sciarra, Francesca, Venneri, Mary Anna, Gori, Marco, Sanarico, Maurizio, Crawley, Francis P., Pagotto, Uberto, Mezzullo, Marco, Dominguez-Garrido, Elena, Planas-Serra, Laura, Schlüter, Agatha, Colobran, Roger, Soler-Palacin, Pere, Lapunzina, Pablo, Tenorio, Jair, Castagna, Maria Grazia, Marcelli, Marco, Renieri, Alessandra, Tommasi, Andrea, Palmieri, Maria, Fabbiani, Massimiliano, Zanelli, Giacomo, Sestini, Fausta, Bergantini, Laura, D'Alessandro, Miriana, Cameli, Paolo, Bennett, David, Anedda, Federico, Marcantonio, Simona, Scolletta, Sabino, Franchi, Federico, Mazzei, Maria Antonietta, Guerrini, Susanna, Frediani, Bruno, Tacconi, Danilo, Feri, Marco, Guidelli, Luca, Corridi, Marta, Nencioni, Cesira, Croci, Leonardo, Caldarelli, Gian Piero, Spagnesi, Maurizio, Piacentini, Paolo, Desanctis, Elena, Cappelli, Silvia, Verzuri, Agnese, Ognibene, Agostino, Vaghi, Massimo, Monforte, Antonella D'Arminio, Miraglia, Federica Gaia, Mondelli, Mario Umberto, Mantovani, Stefania, Girardis, Massimo, Venturelli, Sophie, Sita, Marco, Antinori, Andrea, Emiliozzi, Arianna, Siano, Matteo, Gabrieli, Arianna, Schiaroli, Elisabetta, Scotton, Pier Giorgio, Andretta, Francesca, Panese, Sandro, Baratti, Stefano, Scaggiante, Renzo, Gatti, Francesca, Parisi, Saverio Giuseppe, Quiros-Roldan, Eugenia, Monica, Matteo Della, Piscopo, Carmelo, Russo, Roberta, Andolfo, Immacolata, Fiorentino, Giuseppe, Castori, Marco, Merla, Giuseppe, Aucella, Filippo, Raggi, Pamela, Marciano, Carmen, Perna, Rita, Bassetti, Matteo, Biagio, Antonio Di, Sanguinetti, Maurizio, Masucci, Luca, Giorli, Alessia, Menatti, Elisabetta, Lena, Fabio, Coviello, Domenico A., Mussini, Cristina, Bosio, Giancarlo, Martinelli, Enrico, Mancarella, Sandro, Crotti, Lia
Published in EBioMedicine (01.03.2021)
Published in EBioMedicine (01.03.2021)
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Journal Article
The prognostic value of systematic genetic screening in amyotrophic lateral sclerosis patients
He, Di, Liu, Yining, Dong, Siqi, Shen, Dongchao, Yang, Xunzhe, Hao, Meng, Yin, Xianhong, He, Xinyi, Li, Yi, Wang, Yi, Liu, Mingsheng, Wang, Jiucun, Chen, Xiangjun, Cui, Liying
Published in Journal of neurology (01.03.2024)
Published in Journal of neurology (01.03.2024)
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Journal Article
Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders
Pavelekova, P., Necpal, J., Jech, R., Havrankova, P., Svantnerova, J., Jurkova, V., Gdovinova, Z., Lackova, A., Han, V., Winkelmann, J., Zech, M., Skorvanek, M.
Published in Parkinsonism & related disorders (01.06.2023)
Published in Parkinsonism & related disorders (01.06.2023)
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Journal Article
Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First‐Tier Approach
Petillo, Roberta, De Maggio, Ilaria, Piscopo, Carmelo, Chetta, Massimiliano, Tarsitano, Marina, Chiriatti, Luigi, Sannino, Elvira, Torre, Serena, D'Antonio, Marcella, D'Ambrosio, Paola, Rambaldi, Marco, Cioce, Maria, De Stefano, Valentina, Parisi, Maria Rita, Telese, Antonella, Oro, Maria, Rivieccio, Maria, Radio, Francesca Clementina, Mancini, Cecilia, Niceta, Marcello, Cordeddu, Viviana, Bruselles, Alessandro, Mammì, Corrado, Dattola, Adele, Fioretti, Tiziana, Esposito, Gabriella, Novelli, Antonio, Tessitore, Alessandro, Tessa, Alessandra, Santorelli, Filippo Maria, Iolascon, Achille, Monica, Matteo Della, Tartaglia, Marco, Priolo, Manuela
Published in Clinical genetics (01.08.2025)
Published in Clinical genetics (01.08.2025)
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Journal Article
Pharmacokinetics, Pharmacodynamics and Antiviral Efficacy of the MEK Inhibitor Zapnometinib in Animal Models and in Humans
Koch-Heier, Julia, Schönsiegel, Annika, Waidele, Lara Maria, Volk, Julian, Füll, Yvonne, Wallasch, Christian, Canisius, Sebastian, Burnet, Michael, Planz, Oliver
Published in Frontiers in pharmacology (15.06.2022)
Published in Frontiers in pharmacology (15.06.2022)
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Journal Article
The matter of significance – Has the p.(Glu121Lys) variant of TOR1A gene a pathogenic role in dystonia or Parkinson disease?
Milanowski, Łukasz, Hoffman-Zacharska, Dorota, Geremek, Maciej, Friedman, Andrzej, Figura, Monika, Koziorowski, Dariusz
Published in Journal of clinical neuroscience (01.02.2020)
Published in Journal of clinical neuroscience (01.02.2020)
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Journal Article