Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations von O'Roak, Brian J, Deriziotis, Pelagia, Lee, Choli, Vives, Laura, Schwartz, Jerrod J, Girirajan, Santhosh, Karakoc, Emre, MacKenzie, Alexandra P, Ng, Sarah B, Baker, Carl, Rieder, Mark J, Nickerson, Deborah A, Bernier, Raphael, Fisher, Simon E, Shendure, Jay, Eichler, Evan E

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Targeted capture and massively parallel sequencing of 12 human exomes von Ng, Sarah B, Shendure, Jay, Turner, Emily H, Robertson, Peggy D, Flygare, Steven D, Bigham, Abigail W, Lee, Choli, Shaffer, Tristan, Wong, Michelle, Bhattacharjee, Arindam, Eichler, Evan E, Bamshad, Michael, Nickerson, Deborah A

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Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers von Kumar, Akash, White, Thomas A, MacKenzie, Alexandra P, Clegg, Nigel, Lee, Choli, Dumpit, Ruth F, Coleman, Ilsa, Ng, Sarah B, Salipante, Stephen J, Rieder, Mark J, Nickerson, Deborah A, Corey, Eva, Lange, Paul H, Morrissey, Colm, Vessella, Robert L, Nelson, Peter S, Shendure, Jay

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A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease von Burgner, David, Davila, Sonia, Breunis, Willemijn B, Ng, Sarah B, Li, Yi, Bonnard, Carine, Ling, Ling, Wright, Victoria J, Thalamuthu, Anbupalam, Odam, Miranda, Shimizu, Chisato, Burns, Jane C, Levin, Michael, Kuijpers, Taco W, Hibberd, Martin L

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Single-nucleotide evolutionary constraint scores highlight disease-causing mutations von Cooper, Gregory M, Goode, David L, Ng, Sarah B, Sidow, Arend, Bamshad, Michael J, Shendure, Jay, Nickerson, Deborah A

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Exome-wide DNA capture and next generation sequencing in domestic and wild species von Cosart, Ted, Beja-Pereira, Albano, Chen, Shanyuan, Ng, Sarah B, Shendure, Jay, Luikart, Gordon

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Next generation sequence analysis for mitochondrial disorders von Vasta, Valeria, Ng, Sarah B, Turner, Emily H, Shendure, Jay, Hahn, Si Houn

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Exome sequencing as a tool for Mendelian disease gene discovery von Bamshad, Michael J, Shendure, Jay, Ng, Sarah B, Bigham, Abigail W, Tabor, Holly K, Emond, Mary J, Nickerson, Deborah A

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Identification of differential RNA modifications from nanopore direct RNA sequencing with xPore von Pratanwanich, Ploy N., Yao, Fei, Chen, Ying, Koh, Casslynn W. Q., Wan, Yuk Kei, Hendra, Christopher, Poon, Polly, Goh, Yeek Teck, Yap, Phoebe M. L., Chooi, Jing Yuan, Chng, Wee Joo, Ng, Sarah B., Thiery, Alexandre, Goh, W. S. Sho, Göke, Jonathan

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Determination of isoform-specific RNA structure with nanopore long reads von Aw, Jong Ghut Ashley, Lim, Shaun W., Wang, Jia Xu, Lambert, Finnlay R. P., Tan, Wen Ting, Shen, Yang, Zhang, Yu, Kaewsapsak, Pornchai, Li, Chenhao, Ng, Sarah B., Vardy, Leah A., Tan, Meng How, Nagarajan, Niranjan, Wan, Yue

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cis- and trans-Acting Determinants of Transcription Termination by Yeast RNA Polymerase II von Steinmetz, Eric J., Ng, Sarah B. H., Cloute, Joseph P., Brow, David A.

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Spatial profiling of gastric cancer patient-matched primary and locoregional metastases reveals principles of tumour dissemination von Sundar, Raghav, Liu, Drolaiz HW, Hutchins, Gordon GA, Slaney, Hayley L, Silva, Arnaldo NS, Oosting, Jan, Hayden, Jeremy D, Hewitt, Lindsay C, Ng, Cedric CY, Mangalvedhekar, Amrita, Ng, Sarah B, Tan, Iain BH, Tan, Patrick, Grabsch, Heike I

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Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome von Hannibal, Mark C., Buckingham, Kati J., Ng, Sarah B., Ming, Jeffrey E., Beck, Anita E., McMillin, Margaret J., Gildersleeve, Heidi I., Bigham, Abigail W., Tabor, Holly K., Mefford, Heather C., Cook, Joseph, Yoshiura, Koh-ichiro, Matsumoto, Tadashi, Matsumoto, Naomichi, Miyake, Noriko, Tonoki, Hidefumi, Naritomi, Kenji, Kaname, Tadashi, Nagai, Toshiro, Ohashi, Hirofumi, Kurosawa, Kenji, Hou, Jia-Woei, Ohta, Tohru, Liang, Deshung, Sudo, Akira, Morris, Colleen A., Banka, Siddharth, Black, Graeme C., Clayton-Smith, Jill, Nickerson, Deborah A., Zackai, Elaine H., Shaikh, Tamim H., Donnai, Dian, Niikawa, Norio, Shendure, Jay, Bamshad, Michael J.

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome von Bamshad, Michael J, Shendure, Jay, Ng, Sarah B, Bigham, Abigail W, Buckingham, Kati J, Hannibal, Mark C, McMillin, Margaret J, Gildersleeve, Heidi I, Beck, Anita E, Tabor, Holly K, Cooper, Gregory M, Mefford, Heather C, Lee, Choli, Turner, Emily H, Smith, Joshua D, Rieder, Mark J, Yoshiura, Koh-ichiro, Matsumoto, Naomichi, Ohta, Tohru, Niikawa, Norio, Nickerson, Deborah A

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Single-nucleotide-resolution sequencing of human N 6-methyldeoxyadenosine reveals strand-asymmetric clusters associated with SSBP1 on the mitochondrial genome von Koh, Casslynn W Q, Goh, Yeek Teck, Toh, Joel D W, Neo, Suat Peng, Ng, Sarah B, Gunaratne, Jayantha, Gao, Yong-Gui, Quake, Stephen R, Burkholder, William F, Goh, Wee Siong S

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Massively parallel exon capture and library-free resequencing across 16 genomes von Shendure, Jay, Turner, Emily H, Lee, Choli, Ng, Sarah B, Nickerson, Deborah A

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Massively parallel sequencing and rare disease von Ng, Sarah B., Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay

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Haplotype-resolved genome sequencing of a Gujarati Indian individual von Kitzman, Jacob O, Shendure, Jay, MacKenzie, Alexandra P, Adey, Andrew, Hiatt, Joseph B, Patwardhan, Rupali P, Sudmant, Peter H, Ng, Sarah B, Alkan, Can, Qiu, Ruolan, Eichler, Evan E

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Individualised multiplexed circulating tumour DNA assays for monitoring of tumour presence in patients after colorectal cancer surgery von Ng, Sarah B., Chua, Clarinda, Ng, Matthew, Gan, Anna, Poon, Polly SY, Teo, Melissa, Fu, Cherylin, Leow, Wei Qiang, Lim, Kiat Hon, Chung, Alexander, Koo, Si-Lin, Choo, Su Pin, Ho, Danliang, Rozen, Steve, Tan, Patrick, Wong, Mark, Burkholder, William F., Tan, Iain Beehuat

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Methods for genomic partitioning von Turner, Emily H, Ng, Sarah B, Nickerson, Deborah A, Shendure, Jay

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