The More Things Change… Child Neurology in the Age of Next-Generation Sequencing

Kamil Khafizov, Maxim V. Ivanov, Olga V. Glazova, Sergei P. Kovalenko, Computational approaches to study the effects of small genomic variations Journal of Molecular Modeling. ,vol. 21, pp. 251- 251 ,(2015) , 10.1007/S00894-015-2794-Y

Alice Frigerio, Karol Wright, Whitney Wooderchak-Donahue, Oon T. Tan, Rebecca Margraf, David A. Stevenson, J. Fredrik Grimmer, Pinar Bayrak-Toydemir, Genetic Variants Associated with Port-Wine Stains PLOS ONE. ,vol. 10, ,(2015) , 10.1371/JOURNAL.PONE.0133158

Xiaojing Xu, Xiaoxu Yang, Qixi Wu, Aijie Liu, Xiaoling Yang, Adam Yongxin Ye, August Yue Huang, Jiarui Li, Meng Wang, Zhe Yu, Sheng Wang, Zhichao Zhang, Xiru Wu, Liping Wei, Yuehua Zhang, Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome. Human Mutation. ,vol. 36, pp. 861- 872 ,(2015) , 10.1002/HUMU.22819

Nancy B. Spinner, Laura K. Conlin, Mosaicism and clinical genetics American Journal of Medical Genetics Part C-seminars in Medical Genetics. ,vol. 166, pp. 397- 405 ,(2014) , 10.1002/AJMG.C.31421

Amber Volk, Erin Conboy, Beverly Wical, Marc Patterson, Salman Kirmani, Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective Molecular Syndromology. ,vol. 6, pp. 23- 31 ,(2015) , 10.1159/000371598

Ian M. Campbell, Chad A. Shaw, Pawel Stankiewicz, James R. Lupski, Somatic mosaicism: implications for disease and transmission genetics. Trends in Genetics. ,vol. 31, pp. 382- 392 ,(2015) , 10.1016/J.TIG.2015.03.013

Jerry Vockley, Piero Rinaldo, Michael J. Bennett, Dietrich Matern, Georgirene D. Vladutiu, Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Molecular Genetics and Metabolism. ,vol. 71, pp. 10- 18 ,(2000) , 10.1006/MGME.2000.3066

James C. Whisstock, Arthur M. Lesk, Prediction of protein function from protein sequence and structure. Quarterly Reviews of Biophysics. ,vol. 36, pp. 307- 340 ,(2003) , 10.1017/S0033583503003901

Magdalena E. Tyburczy, Kira A. Dies, Jennifer Glass, Susana Camposano, Yvonne Chekaluk, Aaron R. Thorner, Ling Lin, Darcy Krueger, David N. Franz, Elizabeth A. Thiele, Mustafa Sahin, David J. Kwiatkowski, Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing PLOS Genetics. ,vol. 11, pp. e1005637- ,(2015) , 10.1371/JOURNAL.PGEN.1005637

Elaine R. Mardis, Next-Generation DNA Sequencing Methods Annual Review of Genomics and Human Genetics. ,vol. 9, pp. 387- 402 ,(2008) , 10.1146/ANNUREV.GENOM.9.081307.164359