Case Report: A 3’ splice site variation in RORB exon 3 associated with idiopathic generalized epilepsy in a child by Dandan Shi, Nannan Li, Caifang Fan, Qiang Luo

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Exome sequencing of UK birth cohorts [version 2; peer review: 2 approved, 1 approved with reservations] by Petr Danecek, Amy Hough, John Wright, Karen Ho, Nicholas J. Timpson, Sarah J. Lindsay, Davide Bonfanti, Daniel S. Malawsky, Rafaq Azad, Deborah Plowman, Sara Widaa, Gemma Shireby, Emla Fitzsimons, David Bann, Matthew E. Hurles, Hilary C. Martin, Susan M. Ring, Dan Mason, Michael A. Quail, Wei Huang, Vivek Iyer, Mahmoud Koko, Iaroslav Popov, Laurie Fabian, Gennadii Zakharov, Ruth Y. Eberhardt, Emma E. Wade, Qin Qin Huang

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Genomic landscape of head and neck cancer in Asia: A comprehensive meta-analysis of 1016 samples by Srikanth S. Manda, Nafisa Arfa, Neha Sharma, Aparna R. Parikh, Thomas J. Roberts, Sewanti Limaye, Venkataraman Ramachandran, Kumar Prabhash, Moni A. Kuriakose, Prashant Kumar

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Genetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis by Ting-Yu Chang, Zhu Wei Lim, Yi-Tzu Chu, Wan-Ju Wu, Mei-Hui Lee, Shun-Ping Chang, Dong-Jay Lee, Wen-Hsiang Lin, Ming Ho, Jin-Chung Shih, Gwo-Chin Ma, Ming Chen

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Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability by Baoqiong Liao, Baoqiong Liao, Wuming Xie, Shuwen He

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Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency with two novel mutations: a case report and review of literature by Minyuan Liu, Qi Ji, Senlin Zhang, Jing Qian, Bohan Li, Jie Li, Peifang Xiao, Shaoyan Hu

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Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of... by Mohammad‐Reza Ghasemi, Zahra Esmaeilizadeh, Sahand Tehrani Fateh, Hossein Sadeghi, Saman Bagheri, Farzad Hashemi‐Gorji, Morteza Sheikhi Nooshabadi, Rasoul Madannezhad, Toktam Sadat Tavabe Ghavami, Reza Mirfakhraie, Mohammad Miryounesi

Subjects: “…whole exome sequencing (WES)…”
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Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center by Simona Fecarotta, Lorenzo Vaccaro, Alessandra Verde, Marianna Alagia, Alessandro Rossi, Chiara Colantuono, Maria Teresa Cacciapuoti, Patrizia Annunziata, Sara Riccardo, Antonio Grimaldi, Tonya Fusco, Rosa De Santis, Fernando Barretta, Lucia Albano, Daniela Crisci, Fabiana Vallone, Antonietta Tarallo, Marcella Cesana, Nicola Brunetti-Pierri, Giulia Frisso, Margherita Ruoppolo, Davide Cacchiarelli, Giancarlo Parenti

Subjects: “…Whole exome sequencing (WES)…”
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Discovery of mutated oncodriver genes associated with glioblastoma originated from stem cells of subventricular zone through whole exome sequence profile analysis, and drug repurpo... by Arnob Sarker, Burhan Uddin, Reaz Ahmmed, Sabkat Mahmud, Alvira Ajadee, Md. Al Amin Pappu, Md. Abdul Aziz, Md. Nurul Haque Mollah

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