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Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities

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Gabrielle Bertier, Karine Sénécal, Pascal Borry & Danya F. Vears. (2017) Unsolved challenges in pediatric whole-exome sequencing: A literature analysis. Critical Reviews in Clinical Laboratory Sciences 54:2, pages 134-142.
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Abigail S. Carey & Wendy K. Chung. (2019) Genomic Sequencing for Infants and Children in Intensive Care Units. Current Pediatrics Reports 7:3, pages 78-82.
Crossref
Bharanidharan Devarajan, Ayyasamy Vanniarajan & Periasamy Sundaresan. 2019. Advances in Vision Research, Volume II. Advances in Vision Research, Volume II 403 415 .
Julie F. Foley, Dhiral P. Phadke, Owen Hardy, Sara Hardy, Victor Miller, Anup Madan, Kellie Howard, Kimberly Kruse, Cara Lord, Sreenivasa Ramaiahgari, Gregory G. Solomon, Ruchir R. Shah, Arun R. Pandiri, Ronald A. Herbert, Robert C. Sills & B. Alex Merrick. (2018) Whole exome sequencing in the rat. BMC Genomics 19:1.
Crossref
Swetha Narayanan, Bruce Blumberg, Marla L. Clayman, Vivian Pan & Catherine Wicklund. (2018) Exploring the Issues Surrounding Clinical Exome Sequencing in the Prenatal Setting. Journal of Genetic Counseling 27:5, pages 1228-1237.
Crossref
P. Hu, F. Qiao, Y. Wang, L. Meng, X. Ji, C. Luo, T. Xu, R. Zhou, J. Zhang, B. Yu, L. Wang, T. Wang, Q. Pan, D. Ma, D. Liang & Z. Xu. (2018) Clinical application of targeted next-generation sequencing in fetuses with congenital heart defect. Ultrasound in Obstetrics & Gynecology 52:2, pages 205-211.
Crossref
Roberto Pappesch. (2018) Technische Entwicklungen in der molekularen Gewebeanalytik. InFo Onkologie 21:S1, pages 19-23.
Crossref
Xiaofang Zeng, Tianyu Lian, Jianhui Lin, Suqi Li, Haikuo Zheng, Chunyan Cheng, Jue Ye, Zhicheng Jing, Xiaojian Wang & Wei Huang. (2018) Whole‐exome sequencing improves genetic testing accuracy in pulmonary artery hypertension. Pulmonary Circulation 8:2, pages 1-9.
Crossref
A.T.G. Chiu, S.L.C. Pei, C.C.Y. Mak, G.K.C. Leung, M.H.C. Yu, S.L. Lee, M. Vreeburg, R. Pfundt, I. van der Burgt, T. Kleefstra, T.M.-T. Frederic, S. Nambot, L. Faivre, A.-L. Bruel, M. Rossi, B. Isidor, S. Küry, B. Cogne, T. Besnard, M. Willems, M.R.F. Reijnders & B.H.Y. Chung. (2018) Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. Clinical Genetics 93:4, pages 880-890.
Crossref
Antonio Pannuti, Aleksandra Filipovic, Chindo Hicks, Elliot Lefkowitz, Travis Ptacek, Justin Stebbing & Lucio Miele. (2018) Novel putative drivers revealed by targeted exome sequencing of advanced solid tumors. PLOS ONE 13:3, pages e0194790.
Crossref
May Salem Al-Nbaheen. (2018) Analysis of Downs syndrome with molecular techniques for future diagnoses. Saudi Journal of Biological Sciences 25:3, pages 558-562.
Crossref
Roser Urreizti, Sarah Damanti, Carla Esteve, Héctor Franco-Valls, Laura Castilla-Vallmanya, Raul Tonda, Bru Cormand, Lluïsa Vilageliu, John M. Opitz, Giovanni Neri, Daniel Grinberg & Susana Balcells. (2018) A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome. Scientific Reports 8:1.
Crossref
Alessandro Borghesi, Maria Antonietta Mencarelli, Luigi Memo, Giovanni Battista Ferrero, Andrea Bartuli, Maurizio Genuardi, Mauro Stronati, Alberto Villani, Alessandra Renieri & Giovanni Corsello. (2017) Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant. Italian Journal of Pediatrics 43:1.
Crossref
Eirwen M. Miller, Nicole E. Patterson, Jenna Marcus Zechmeister, Michal Bejerano-Sagie, Maria Delio, Kunjan Patel, Nivedita Ravi, Wilber Quispe-Tintaya, Alexander Maslov, Nichelle Simmons, Maria Castaldi, Jan Vijg, Rouzan G. Karabakhtsian, John M. Greally, Dennis Y.S. Kuo & Cristina Montagna. (2017) Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants. Oncotarget 8:60, pages 102033-102045.
Crossref
Kathryn A. Phillips, Patricia A. Deverka, Harold C. Sox, Muin J. Khoury, Lewis G. Sandy, Geoffrey S. Ginsburg, Sean R. Tunis, Lori A. Orlando & Michael P. Douglas. (2017) Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research. Genetics in Medicine 19:10, pages 1081-1091.
Crossref
Zhongdong Lin, Zhenwei Liu, Xiucui Li, Feng Li, Ying Hu, Bingyu Chen, Zhen Wang & Yong Liu. (2017) Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies. Scientific Reports 7:1.
Crossref
Terence D. Capellini & Heather Dingwall. 2017. Building Bones: Bone Formation and Development in Anthropology. Building Bones: Bone Formation and Development in Anthropology 175 204 .
Sarah J. Smith, Carine R. Nemr & Shana O. Kelley. (2017) Chemistry-Driven Approaches for Ultrasensitive Nucleic Acid Detection. Journal of the American Chemical Society 139:3, pages 1020-1028.
Crossref
Nasim Vasli, Elizabeth Harris, Jason Karamchandani, Eric Bareke, Jacek Majewski, Norma B. Romero, Tanya Stojkovic, Rita Barresi, Hichem Tasfaout, Richard Charlton, Edoardo Malfatti, Johann Bohm, Chiara Marini-Bettolo, Karine Choquet, Marie-Josée Dicaire, Yi-Hong Shao, Ana Topf, Erin O’Ferrall, Bruno Eymard, Volker Straub, Gonzalo Blanco, Hanns Lochmüller, Bernard Brais, Jocelyn Laporte & Martine Tétreault. (2017) Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. Brain 140:1, pages 37-48.
Crossref
Eleonora Palagano, Lucia Susani, Ciro Menale, Ugo Ramenghi, Massimo Berger, Paolo Uva, Manuela Oppo, Paolo Vezzoni, Anna Villa & Cristina Sobacchi. (2017) Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis. Journal of Bone and Mineral Research 32:1, pages 99-105.
Crossref
Alison Hamilton, Martine Tétreault, David A. Dyment, Ruobing Zou, Kristin Kernohan, Michael T. Geraghty, Taila Hartley & Kym M. Boycott. (2016) Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care. Molecular Genetics & Genomic Medicine 4:5, pages 504-512.
Crossref
Natasha T. StrandeJonathan S. Berg. (2016) Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing. Annual Review of Genomics and Human Genetics 17:1, pages 303-332.
Crossref

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