1. A 129‐kb Deletion on Chromosome 12 Confers Substantial Protection Against Rheumatoid Arthritis, Implicating the Gene SLC2A3. Issue 2 (2nd December 2013) Authors: Veal, Colin D.; Reekie, Katherine E.; Lorentzen, Johnny C.; Gregersen, Peter K.; Padyukov, Leonid; Brookes, Anthony J. Journal: Human mutation Issue: Volume 35:Issue 2(2014:Feb.) Page Start: 248 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Short‐Read Multiplex Sequencing Method for Reliable, Cost‐Effective and High‐Throughput Genotyping in Large‐Scale Studies. Issue 2 (19th December 2013) Authors: Cao, Hongzhi; Wang, Yu; Zhang, Wei; Chai, Xianghua; Zhang, Xiandong; Chen, Shiping; Yang, Fan; Zhang, Caifen; Guo, Yulai; Liu, Ying; Tang, Zhoubiao; Chen, Caifen; Xue, Yaxin; Zhen, Hefu; Xu, Yinyin; Rao, Bin; Liu, Tao; Zhao, Meiru; Zhang, Wenwei; Li, Yingrui Journal: Human mutation Issue: Volume 35:Issue 2(2014:Feb.) Page Start: 270 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Analysis of Crossover Breakpoints Yields New Insights into the Nature of the Gene Conversion Events Associated with Large NF1 Deletions Mediated by Nonallelic Homologous Recombination. Issue 2 (2nd December 2013) Authors: Bengesser, Kathrin; Vogt, Julia; Mussotter, Tanja; Mautner, Victor‐Felix; Messiaen, Ludwine; Cooper, David N.; Kehrer‐Sawatzki, Hildegard Journal: Human mutation Issue: Volume 35:Issue 2(2014:Feb.) Page Start: 215 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Contents. Issue 2 (February 2014) Journal: Human mutation Issue: Volume 35:Issue 2(2014:Feb.) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Discovery and Functional Assessment of Gene Variants in the Vascular Endothelial Growth Factor Pathway. Issue 2 (27th November 2013) Authors: Paré‐Brunet, Laia; Glubb, Dylan; Evans, Patrick; Berenguer‐Llergo, Antoni; Etheridge, Amy S.; Skol, Andrew D.; Di, Anna; Duan, Shiwei; Gamazon, Eric R.; Innocenti, Federico Journal: Human mutation Issue: Volume 35:Issue 2(2014:Feb.) Page Start: 227 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Distinct Patterns of Genetic Variations in Potential Functional Elements in Long Noncoding RNAs. Issue 2 (25th November 2013) Authors: Bhartiya, Deeksha; Jalali, Saakshi; Ghosh, Sourav; Scaria, Vinod Journal: Human mutation Issue: Volume 35:Issue 2(2014:Feb.) Page Start: 192 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2. Issue 2 (3rd December 2013) Authors: Guidugli, Lucia; Carreira, Aura; Caputo, Sandrine M.; Ehlen, Asa; Galli, Alvaro; Monteiro, Alvaro N.A.; Neuhausen, Susan L.; Hansen, Thomas V.O.; Couch, Fergus J.; Vreeswijk, Maaike P.G. Journal: Human mutation Issue: Volume 35:Issue 2(2014:Feb.) Page Start: 151 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Human Cell Line Model for Cancer‐Associated KRAS Noncoding SNP. Issue 2 (February 2014) Authors: Lauring, Josh Journal: Human mutation Issue: Volume 35:Issue 2(2014:Feb.) Page Start: v Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease. Issue 2 (12th December 2013) Authors: Conte, Matilde Immacolata; Pescatore, Alessandra; Paciolla, Mariateresa; Esposito, Elio; Miano, Maria Giuseppina; Lioi, Maria Brigida; McAleer, Maeve A.; Giardino, Giuliana; Pignata, Claudio; Irvine, Alan D.; Scheuerle, Angela E.; Royer, Ghislaine; Hadj‐Rabia, Smail; Bodemer, Christine; Bonnefont... Journal: Human mutation Issue: Volume 35:Issue 2(2014:Feb.) Page Start: 165 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Lake Louise Mutation Detection Meeting 2013: Clinical Translation of Next‐Generation Sequencing Requires Optimization of Workflows and Interpretation of Variants. Issue 2 (27th November 2013) Authors: Smith, Amanda; Boycott, Kym M.; Jarinova, Olga Journal: Human mutation Issue: Volume 35:Issue 2(2014:Feb.) Page Start: 265 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗