検索結果 - Sarah Ng
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Single-nucleotide-resolution sequencing of human<i>N</i>6-methyldeoxyadenosine reveals strand-asymmetric clusters associated with SSBP1 on the mitochondrial genome 著者: Casslynn W.Q. Koh, Yeek Teck Goh, Joel D. W. Toh, Suat Peng Neo, Sarah Ng, Jayantha Gunaratne, Yong‐Gui Gao, Stephen R. Quake, William F. Burkholder, W.S. Sho Goh
出版事項 2018Artigo -
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Targeted capture and massively parallel sequencing of 12 human exomes 著者: Sarah Ng, Emily H. Turner, Peggy D. Robertson, Steven Flygare, Abigail W. Bigham, Choli Lee, Tristan Shaffer, Michelle Wong, Arindam Bhattacharjee, Evan E. Eichler, Michael J. Bamshad, Deborah A. Nickerson, Jay Shendure
出版事項 2009Artigo -
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A Genome-Wide Association Study Identifies Novel and Functionally Related Susceptibility Loci for Kawasaki Disease 著者: David Burgner, Sonia Dávila, Willemijn B. Breunis, Sarah Ng, Yi Li, Carine Bonnard, Ling Ling, Victoria Wright, Anbupalam Thalamuthu, Miranda Odam, Chisato Shimizu, Jane C. Burns, Michael Levin, Taco W. Kuijpers, Martin L. Hibberd
出版事項 2009Artigo -
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Spatial profiling of gastric cancer patient-matched primary and locoregional metastases reveals principles of tumour dissemination 著者: Raghav Sundar, Drolaiz Hw Liu, Gordon G.A. Hutchins, Hayley Slaney, Arnaldo N. S. Silva, Jan Oosting, Jeremy D. Hayden, Lindsay C. Hewitt, Cedric Chuan Young Ng, Amrita Mangalvedhekar, Sarah Ng, Iain Tan, Patrick Tan, Heike I. Grabsch
出版事項 2020Artigo -
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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations 著者: Brian J. O’Roak, Pelagia Deriziotis, Choli Lee, Laura Vives, Jerrod J. Schwartz, Santhosh Girirajan, Emre Karakoç, Alexandra P MacKenzie, Sarah Ng, Carl Baker, Mark J. Rieder, Deborah A. Nickerson, Raphael Bernier, Simon E. Fisher, Jay Shendure, Evan E. Eichler
出版事項 2011Artigo -
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Identification of differential RNA modifications from nanopore direct RNA sequencing with xPore 著者: Ploy N. Pratanwanich, Fei Yao, Ying Chen, Casslynn W.Q. Koh, Yuk Kei Wan, Christopher Hendra, Polly Poon, Yeek Teck Goh, Phoebe M. L. Yap, Jing Yuan Chooi, Wee Joo Chng, Sarah Ng, Alexandre H. Thiéry, W.S. Sho Goh, Jonathan Göke
出版事項 2021Artigo -
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Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers 著者: Akash Kumar, Thomas A. White, Alexandra P MacKenzie, Nigel Clegg, Choli Lee, Ruth F. Dumpit, Ilsa M. Coleman, Sarah Ng, Stephen J. Salipante, Mark J. Rieder, Deborah A. Nickerson, Eva Corey, Paul H. Lange, Colm Morrissey, Robert L. Vessella, Peter S. Nelson, Jay Shendure
出版事項 2011Artigo -
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Tissue-specific cell-free DNA degradation quantifies circulating tumor DNA burden 著者: Guanhua Zhu, Yu Amanda Guo, Danliang Ho, Polly Poon, Zhong Wee Poh, Pui‐Mun Wong, Anna Gan, Mei Mei Chang, Dimitrios Kleftogiannis, Yi Ting Lau, Brenda Tay, Wan Jun Lim, Clarinda Chua, Tira J. Tan, Si‐Lin Koo, Dawn Q. Chong, Yoon Sim Yap, Iain Beehuat Tan, Sarah Ng, Anders J. Skanderup
出版事項 2021Artigo -
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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome 著者: Sarah Ng, Abigail W. Bigham, Kati J. Buckingham, Mark C. Hannibal, Margaret J. McMillin, Heidi Gildersleeve, Anita Beck, Holly K. Tabor, Gregory M. Cooper, Heather C Mefford, Choli Lee, Emily H. Turner, Joshua D. Smith, Mark J. Rieder, Koh-ichiro Yoshiura, Naomichi Matsumoto, Tohru Ohta, Norio Niikawa, Deborah A. Nickerson, Michael J. Bamshad, Jay Shendure
出版事項 2010Artigo -
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Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome 著者: François Bernier, Oana Caluseriu, Sarah Ng, Jeremy Schwartzentruber, Kati J. Buckingham, A. Micheil Innes, Ethylin Wang Jabs, Jeffrey W. Innis, Jane L. Schuette, Jerome L. Gorski, Peter H. Byers, Grégor Andelfinger, Victoria Mok Siu, Julie Lauzon, Bridget A. Fernandez, Margaret J. McMillin, Richard H. Scott, Hilary Racher, Jacek Majewski, Deborah A. Nickerson, Jay Shendure, Michael J. Bamshad, Jillian S. Parboosingh
出版事項 2012Artigo
関連主題
Biology
Genetics
Gene
Computational biology
DNA sequencing
Exome
Exome sequencing
Genome
Mutation
Genotype
Medicine
Phenotype
Single-nucleotide polymorphism
Evolutionary biology
Gene expression
Genomics
Massive parallel sequencing
RNA
Sanger sequencing
Cancer
Computer science
Exon
Haploinsufficiency
Human genome
International HapMap Project
Missense mutation
Pathology
RNA-Seq
Reference genome
Transcriptome