Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
Lupski, James R., Reid, Jeffrey G., Gonzaga-Jauregui, Claudia, Rio Deiros, David, Chen, David C.Y., Nazareth, Lynne, Bainbridge, Matthew, Dinh, Huyen +14 more·2010·New England Journal of Medicine
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- Ethical issues in the evaluation of adults with suspected genetic neuromuscular disordersXiao-Wei W. Su, P. Kang, J. Russell, Z. Simmons · 2016 · Muscle and Nerve
- The genetic epidemiology of the form of microcephaly ascribed to mutation at the WDR62 locusAlan Edmund Stark · 2016 · Annals of Translational Medicine
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- Realising the benefits of genetics for health.C. Wright, Philippa C. Brice, A. Stewart, H. Burton · 2010 · The Lancet
- The first Irish genome and ways of improving sequence accuracyY. Ju, Y. J. Yoo, Jong-Il Kim, Jeong-Sun Seo · 2010 · Genome Biology
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- Autoimmune DisordersSergio E. Baranzini · 2012 · Elsevier eBooks
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- The Charcot-Marie-Tooth diseases: how can we identify and develop novel therapeutic targets?Rhys C. Roberts · 2012 · Brain : a journal of neurology
- Deriving clinical action from whole-genome analysis.D. Wall, P. Tonellato · 2012 · Personalized Medicine
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- mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via ClassificationsZhongshan Li, Zhenwei Liu, Yiyi Jiang, Denghui Chen, Ran Xia, Zhong Sheng Sun, Jinyu Wu · 2016 · Human Mutation
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- Personalized Medicine: Temper Expectations—ResponseLiam R. Brunham, M. Hayden · 2012
- NDesign: software for study design for the detection of rare variants from next-generation sequencing dataYuki Sugaya, Yasuaki Akazawa, Akira Saito, S. Kamitsuji · 2012 · Journal of Human Genetics
- Mixed Modeling with Whole Genome DataJing Hua Zhao, Jian’an Luan · 2012 · Journal of Probability and Statistics
- Clinical utility of sequence-based genotype compared with that derivable from genotyping arraysAlexander A. Morgan, Rong Chen, A. Butte · 2012 · J. Am. Medical Informatics Assoc.
- Trusting new age weapons to tackle titinK. J. Nowak · 2012 · Brain
- Rapid genetic diagnosis in single-gene movement disordersA. Singleton · 2012 · Movement Disorders
- New insights into small fiber neuropathyYuen T. So · 2012 · Annals of Neurology
- Next-generation Sequencing in Clinical Molecular DiagnosticsJohn R. ten Bosch, Joshua L. Deignan, W. Grody · 2011 · Encyclopedia of Life Sciences
- Understanding Protein Function - The Disparity Between Bioinformatics and Molecular MethodsK. Hupert-Kocurek, J. Kaguni · 2011
- Advances in translational research in neuromuscular diseases.D. Pleasure · 2011 · Archives of Neurology
- Enfermedad de Charcot-Marie-Tooth: revisión con énfasis en la fisiopatología del pie cavoJosé Berciano, Elena Gallardo, A. G. García, Ana L. Pelayo-Negro, J. Infante, Onofre Combarros · 2011
- Applied Human Genetic Epidemiology.Bertram K. C. Chan · 2018 · Advances in Experimental Medicine and Biology
- Neuromuscular DisordersS. Khadilkar, R. Yadav, B. Patel · 2018 · Springer Singapore
- Overview of Policy, Ethical, and Social Considerations in Genomic and Personalized MedicineS. Haga · 2017 · Elsevier eBooks
- [Research progress in the mouse models of Charcot-Marie-Tooth disease type 2 (CMT2)].Zhen Yu, Chun-jie Luan, Ming-Min Gu · 2014 · Yi chuan = Hereditas
- From the Phenotype to the Genotype via BioinformaticsCali E. Willet, Claire M. Wade · 2014 · Methods in molecular biology
- Clinical Decision Support for Personalized MedicineBrandon M. Welch, Kensaku Kawamoto, B. Drohan, K. Hughes · 2014 · Elsevier eBooks
- [Genetic diagnosis and molecular pathology of inherited neuropathy].H. Takashima · 2012 · Rinshō shinkeigaku Clinical neurology
- Genetics in Pediatric MedicineB. Korf · 2012 · Springer eBooks
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- Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4CR. Grewal, Kinsi Oberoi, L. Peddareddygari · 2018 · Case Reports in Neurology
- Autosomal recessive demyelinating or axonal Charcot–Marie–Tooth neuropathyK. Claeys, M. Lammens, J. Senderek, J. Weis · 2014
- Genomsequenzierung zur Identifikation von MutationenM. Nowrousian · 2013 · BIOspektrum
- A CMOS architecture allowing parallel DNA comparison for on-chip assemblyYuanqi Hu, Yan Liu, C. Toumazou, P. Georgiou · 2012 · 2012 IEEE International Symposium on Circuits and Systems
- Back to the future: From genome to metabolomeJoseph V. Thakuria, A. Zaranek, G. Church, Gerard T. Berry · 2012 · Human Mutation
- 1 – Introduction: Evaluation of Patients with Neuromuscular DisordersT. Bertorini · 2011
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- Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral NeuropathyJulie Choi, Zi-Tian Tang, Wendy Dong, Jenna Ulibarri, Elvisa Mehinovic, Simone Thomas, A. Höke, Sheng-Peng Jin · 2025 · Annals of Clinical and Translational Neurology
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- Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial CleftSiying Zhu, Hong-Xu Tao, Robert A. Cornell, Huan Liu · 2025 · Human Mutation
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- Novel Mutations Involved in Charcot-Marie-Tooth 4C and Intrafamilial Variability: Let's Not Miss the Forest for the TreesM. Gogou, E. Pavlou, V. Kimiskidis, K. Kouskouras, E. Pavlidou, Theophanis Papadopoulos, K. Haidopoulou, L. Fidani · 2020 · Journal of Pediatric Genetics
- L'approche basée sur le génotype déterminé par séquençage haut-débit en première intention et le partage international des données pour identifier de nouveaux gènes et nouveaux syndromes responsables d'anomalies du développementSébastien Moutton · 2019
- The Evolution of DNA Sequencing in PharmacogenomicsS. Scherer · 2019 · Advances in Molecular Pathology
- Identification of novel genetic causes of monogenic intellectual disabilityF. Mattioli · 2018
- The Effect of IL-4 Gene Polymorphism in Carpal Tunnel SyndromeA. Tekcan, B. Çevik, A. Inanır, Serbulent Yıgıt · 2016
- Clinical utility of next-generation sequencing in neurodevelopmental disorders: non-syndromic intellectual disability as a modelAhmet Okay Çağlayan · 2015 · Istanbul Bilim University Florence Nightingale Journal of Medicine
- Nucleic Acids as Molecular DiagnosticsA. Keller, E. Meese · 2014 · Wiley eBooks
- eXtasy simplified-towards opening the black boxD. Popović, A. Sifrim, Y. Moreau, B. De Moor · 2013 · IEEE International Conference on Bioinformatics and Biomedicine
- Genetics of Muscle DiseaseK. Nowak, P. Lamont, N. Laing · 2013
- Using NextGen sequencing to identify the molecular basisfor genetic disease: an evolutionary perspectiveR. Norgren · 2012 · Methods in Next Generation Sequencing
- Approches bioinformatiques pour l'exploitation des données génomiquesLieng Taing · 2012 · theses.fr (ABES)
- A New Journal and a New Model for Structured Data Dissemination for an Era of Genomic MedicineS. Kingsmore · 2012 · Journal of Genomes and Exomes
- Analyzing genomic data: understanding the genomeX. M. Fernández-Suárez · 2012 · WIREs Data Mining Knowl. Discov.
- Genetics of Parkinson DiseaseC. Sassi · 2011 · InTech eBooks
- Massively Parallel SequencingTracy Tucker, Marco A. Marra, J. M. Friedman · 2011
- The Future of Genomic EndocrinologyM. Dattani, J. Martínez-Barbera · 2011 · Front. Endocrin.
- Exome Sequencing in Mendelian DisordersJong‐Keuk Lee · 2010 · Journal of genetic medicine
- Translation of next-generation sequencing (NGS) into molecular diagnostics / Umsetzung von Next Generation Sequencing in der molekularen DiagnostikS. Kotschote, Carola L. Wagner, C. Marschall, K. Mayer, K. Hirv, M. Kerick, B. Timmermann, H. Klein · 2010 · Journal of Laboratory Medicine
- Progress in genomic technology: a new challenge for the palliative medicine?A. Astolfi, G. Biasco, E. Bruera, A. Surbone · 2010 · Journal of Pain and Symptom Management
- Mapping the human genome with newfound precisionJ. Oksenberg, S. Hauser · 2010 · Annals of Neurology
- The 6 billion genomes project.M. A. Goldman · 2010 · Personalized Medicine
- DNA Sequencing and Other Methods of Exonic and Genomic AnalysesJun Mitsui, Hiroyuki Ishiura, Shoji Tsuji · 2014 · Elsevier eBooks
- Utility of the “omics” in kidney disease: Methods of analysis, sampling considerations, and technical approaches in renal biomarkersVanessa Moreno · 2020 · Elsevier eBooks
- Charcot–Marie–Tooth DiseaseS. Khadilkar, R. Yadav, B. Patel · 2018
- Genetic Testing in Hereditary Colorectal CancerC. Lázaro, L. Feliubadaló, J. del Valle · 2018 · Springer eBooks
- Bioinformatics for Diseases Management: A Personalized Therapeutics ProspectiveKrishna Kanhaiya · 2017 · Springer eBooks