Exploratory evaluation of MR permeability with 18F-FDG PET mapping in pediatric brain tumors: a report from the Pediatric Brain Tumor Consortium

…, FH Fahey, S Vajapeyam, SS Ng… - Journal of Nuclear …, 2013 - Soc Nuclear Med
The purpose of this study was to develop a method of registering 18 F-FDG PET with MR
permeability images for investigating the correlation of 18 F-FDG uptake, permeability, and …

Exome sequencing as a tool for Mendelian disease gene discovery

MJ Bamshad, SB Ng, AW Bigham, HK Tabor… - Nature Reviews …, 2011 - nature.com
Exome sequencing — the targeted sequencing of the subset of the human genome that is
protein coding — is a powerful and cost-effective new tool for dissecting the genetic basis of …

Effect of emulsion fuel on engine emissions–A review

AK Hasannuddin, JY Wira, R Srithar, S Sarah… - Clean Technologies and …, 2016 - Springer
Emulsion fuel is an unconventional fuel for diesel engines, which can be used without
modifications in the engine. The benefits of an emulsion fuel include lowering the emissions of …

Massively parallel sequencing and rare disease

SB Ng, DA Nickerson, MJ Bamshad… - Human molecular …, 2010 - academic.oup.com
Massively parallel sequencing has enabled the rapid, systematic identification of variants
on a large scale. This has, in turn, accelerated the pace of gene discovery and disease …

Targeted capture and massively parallel sequencing of 12 human exomes

SB Ng, EH Turner, PD Robertson, SD Flygare… - Nature, 2009 - nature.com
Genome-wide association studies suggest that common genetic variants explain only a
modest fraction of heritable risk for common diseases, raising the question of whether rare …

Exome sequencing identifies the cause of a mendelian disorder

SB Ng, KJ Buckingham, C Lee, AW Bigham, HK Tabor… - Nature …, 2010 - nature.com
We demonstrate the first successful application of exome sequencing to discover the gene
for a rare mendelian disorder of unknown cause, Miller syndrome (MIM%263750). For four …

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

SB Ng, AW Bigham, KJ Buckingham, MC Hannibal… - Nature …, 2010 - nature.com
We demonstrate the successful application of exome sequencing 1 , 2 , 3 to discover a gene
for an autosomal dominant disorder, Kabuki syndrome (OMIM%147920). We subjected the …

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

…, S Girirajan, E Karakoc, AP MacKenzie, SB Ng… - Nature …, 2011 - nature.com
Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a
strong genetic component complicated by substantial locus heterogeneity 1 , 2 . We …

[HTML][HTML] Impact of diabetes on the effects of sodium glucose co-transporter-2 inhibitors on kidney outcomes: collaborative meta-analysis of large placebo-controlled …

…, P Judge, MJ Landray, KJ Mayne, SYA Ng… - The Lancet, 2022 - thelancet.com
Background Large trials have shown that sodium glucose co-transporter-2 (SGLT2) inhibitors
reduce the risk of adverse kidney and cardiovascular outcomes in patients with heart …

Identification of differential RNA modifications from nanopore direct RNA sequencing with xPore

…, YT Goh, PML Yap, JY Chooi, WJ Chng, SB Ng… - Nature …, 2021 - nature.com
RNA modifications, such as N 6 -methyladenosine (m 6 A), modulate functions of cellular
RNA species. However, quantifying differences in RNA modifications has been challenging. …