Sarah Ng

发表

Haplotype-resolved genome sequencing of a Gujarati Indian individual

Andrew C. Adey, Joseph B Hiatt, Peter H. Sudmant, 2011, Nature Biotechnology.

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

M. Rieder, J. Shendure, C. Baker, 2011, Nature Genetics.

Exome sequencing as a tool for Mendelian disease gene discovery

J. Shendure, Sarah Ng, D. Nickerson, 2011, Nature Reviews Genetics.

Exome sequencing identifies the cause of a Mendelian disorder

P. Shannon, J. Shendure, Sarah Ng, 2009, Nature Genetics.

Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes

Emily H Turner, J. Shendure, E. Eichler, 2009, Nature.

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Emily H Turner, M. Rieder, J. Shendure, 2010, Nature Genetics.

Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes

Emily H Turner, J. Shendure, E. Eichler, 2009, Nature.

Massively parallel sequencing and rare disease.

J. Shendure, Sarah Ng, D. Nickerson, 2010, Human molecular genetics.

Methods for genomic partitioning.

Jay Shendure, Deborah A Nickerson, Emily H Turner, 2009, Annual review of genomics and human genetics.

Massively parallel exon capture and library-free resequencing across 16 genomes

Jay Shendure, Deborah A Nickerson, Choli Lee, 2009, Nature Methods.

Trans genomic capture and sequencing of primate exomes reveals new targets of positive selection.

Jay Shendure, Renee D. George, Graham McVicker, 2011, Genome research.

cis- and trans-Acting Determinants of Transcription Termination by Yeast RNA Polymerase II

Sarah Ng, D. Brow, E. Steinmetz, 2006, Molecular and Cellular Biology.

cis- and trans-Acting Determinants of Transcription Termination by Yeast RNA Polymerase II

Sarah Ng, D. Brow, E. Steinmetz, 2006, Molecular and Cellular Biology.

chronic pancreatitis HP : hereditary pancreatitis Penetrance : the probability that an individual with a particular genotype expresses a particular phenotype Expressed pseudogene : a transition state between a functioning duplicated gene and a nonfunctional pseudogene INTRODUCTION Chronic pancreatit

E. Eichler, Sarah Ng, D. Nickerson, 2012 .

Next generation sequence analysis for mitochondrial disorders

Jay Shendure, Emily H Turner, Si Houn Hahn, 2009, Genome Medicine.

Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers

Stephen J. Salipante, Deborah A. Nickerson, Jay Shendure, 2011, Proceedings of the National Academy of Sciences.

Spatial profiling of gastric cancer patient-matched primary and locoregional metastases reveals principles of tumour dissemination

Sarah Ng, H. Grabsch, P. Tan, 2020, Gut.

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

Jay Shendure, Arend Sidow, Michael J Bamshad, 2010, Nature Methods.

Targeted Enrichment of Specific Regions in the Human Genome by Array Hybridization

M. Rieder, J. Shendure, Sarah Ng, 2010, Current Protocols in Human Genetics.

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

J. Shendure, H. Mefford, E. Zackai, 2011, American journal of medical genetics. Part A.

Detection of genomic alterations in breast cancer with circulating tumour DNA sequencing

Sarah Ng, T. Lim, I. Tan, 2019, Scientific Reports.

Multiregion ultra‐deep sequencing reveals early intermixing and variable levels of intratumoral heterogeneity in colorectal cancer

Sarah Ng, C. Chua, I. Tan, 2016, Molecular oncology.

Tissue-specific cell-free DNA degradation quantifies circulating tumor DNA burden

Sarah Ng, C. Chua, I. Tan, 2021, Nature Communications.

A non-active-site SET domain surface crucial for the interaction of MLL1 and the RbBP5/Ash2L heterodimer within MLL family core complexes.

J. Shendure, Sarah Ng, M. Bamshad, 2014, Journal of molecular biology.

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Jay Shendure, Deborah A Nickerson, Choli Lee, 2012, Nature Genetics.

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

Jay Shendure, Michael J Bamshad, Deborah A Nickerson, 2012, American journal of human genetics.

Exome-wide DNA capture and next generation sequencing in domestic and wild species

J. Shendure, Sarah Ng, G. Luikart, 2011, BMC Genomics.

The functionally conserved nucleoporins Nup124p from fission yeast and the human Nup153 mediate nuclear import and activity of the Tf1 retrotransposon and HIV-1 Vpr.

Sarah Ng, S. Gandotra, S. Mahalingam, 2005, Molecular biology of the cell.

Heatrich-BS enables efficient CpG enrichment and highly scalable cell-free DNA methylation profiling

Sarah Ng, L. F. Cheow, Ramya Viswanathan, 2021, bioRxiv.

Corrigendum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (Nature Genetics (2011) 43, (585-589))

M. Rieder, J. Shendure, C. Baker, 2012 .

Individualised multiplexed circulating tumour DNA assays for monitoring of tumour presence in patients after colorectal cancer surgery

Sarah Ng, W. Burkholder, S. Choo, 2017, Scientific Reports.