Sophie R Wang
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Explore the profile of Sophie R Wang including associated specialties, affiliations and a list of published articles.
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10
Citations
636
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Recent Articles
1.
Ried J, Jeff M J, Chu A, Bragg-Gresham J, Dongen J, Huffman J, et al.
Nat Commun
. 2016 Nov;
7:13357.
PMID: 27876822
Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that...
2.
Winkler T, Justice A, Graff M, Barata L, Feitosa M, Chu S, et al.
PLoS Genet
. 2016 Jun;
12(6):e1006166.
PMID: 27355579
[This corrects the article DOI: 10.1371/journal.pgen.1005378.].
3.
Wang S, Malik S, Tan I, Chan Y, Hoi Q, Ow J, et al.
J Mol Diagn
. 2016 Mar;
18(3):416-424.
PMID: 26970585
Targeted next-generation sequencing is becoming increasingly common as a clinical diagnostic and prognostic test for patient- and tumor-specific genetic profiles as well as to optimally select targeted therapies. Here, we...
4.
Winkler T, Justice A, Graff M, Barata L, Feitosa M, Chu S, et al.
PLoS Genet
. 2015 Oct;
11(10):e1005378.
PMID: 26426971
Genome-wide association studies (GWAS) have identified more than 100 genetic variants contributing to BMI, a measure of body size, or waist-to-hip ratio (adjusted for BMI, WHRadjBMI), a measure of body...
5.
Wang S, Jacobsen C, Carmichael H, Edmund A, Robinson J, Olney R, et al.
Hum Mutat
. 2015 Feb;
36(4):474-81.
PMID: 25703509
Based on the observation of reduced stature in relatives of patients with acromesomelic dysplasia, Maroteaux type (AMDM), caused by homozygous or compound heterozygous mutations in natriuretic peptide receptor-B gene (NPR2),...
6.
Wang S, Agarwala V, Flannick J, Chiang C, Altshuler D, Hirschhorn J
Am J Hum Genet
. 2014 Apr;
94(5):710-20.
PMID: 24768551
Finnish samples have been extensively utilized in studying single-gene disorders, where the founder effect has clearly aided in discovery, and more recently in genome-wide association studies of complex traits, where...
7.
Chan Y, Lim E, Sandholm N, Wang S, McKnight A, Ripke S, et al.
Am J Hum Genet
. 2014 Mar;
94(3):437-52.
PMID: 24607388
In most complex diseases, much of the heritability remains unaccounted for by common variants. It has been postulated that lower-frequency variants contribute to the remaining heritability. Here, we describe a...
8.
Dauber A, Ercan A, Lee J, James P, Jacobs P, Ashline D, et al.
Hum Mol Genet
. 2014 Jan;
23(11):2880-7.
PMID: 24403049
Leukocyte adhesion deficiency type II is a hereditary disorder of neutrophil migration caused by mutations in the guanosine diphosphate-fucose transporter gene (SLC35C1). In these patients, inability to generate key fucosylated...
9.
Wang S, Carmichael H, Andrew S, Miller T, Moon J, Derr M, et al.
J Clin Endocrinol Metab
. 2013 Jun;
98(8):E1428-37.
PMID: 23771920
Context: The majority of patients presenting with short stature do not receive a definitive diagnosis. Advances in genetic sequencing allow for large-scale screening of candidate genes, potentially leading to genetic...
10.
Yang J, Loos R, Powell J, Medland S, Speliotes E, Chasman D, et al.
Nature
. 2012 Sep;
490(7419):267-72.
PMID: 22982992
There is evidence across several species for genetic control of phenotypic variation of complex traits, such that the variance among phenotypes is genotype dependent. Understanding genetic control of variability is...