Joel Hirschhorn
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Explore the profile of Joel Hirschhorn including associated specialties, affiliations and a list of published articles.
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Recent Articles
11.
Yengo L, Sidorenko J, Kemper K, Zheng Z, Wood A, Weedon M, et al.
Hum Mol Genet
. 2018 Aug;
27(20):3641-3649.
PMID: 30124842
Recent genome-wide association studies (GWAS) of height and body mass index (BMI) in ∼250000 European participants have led to the discovery of ∼700 and ∼100 nearly independent single nucleotide polymorphisms...
12.
Guo M, Liu Z, Willen J, Shaw C, Richard D, Jagoda E, et al.
Elife
. 2017 Dec;
6.
PMID: 29205154
GWAS have identified hundreds of height-associated loci. However, determining causal mechanisms is challenging, especially since height-relevant tissues (e.g. growth plates) are difficult to study. To uncover mechanisms by which height...
13.
Mace A, Tuke M, Deelen P, Kristiansson K, Mattsson H, Noukas M, et al.
Nat Commun
. 2017 Oct;
8(1):744.
PMID: 28963451
There are few examples of robust associations between rare copy number variants (CNVs) and complex continuous human traits. Here we present a large-scale CNV association meta-analysis on anthropometric traits in...
14.
Eicher J, Chami N, Kacprowski T, Nomura A, Chen M, Yanek L, et al.
Am J Hum Genet
. 2016 Jun;
99(1):40-55.
PMID: 27346686
Platelet production, maintenance, and clearance are tightly controlled processes indicative of platelets' important roles in hemostasis and thrombosis. Platelets are common targets for primary and secondary prevention of several conditions....
15.
Yu Y, Yao R, Wang L, Fan Y, Huang X, Hirschhorn J, et al.
BMC Genomics
. 2015 Sep;
16:701.
PMID: 26376624
Background: Human height is a complex trait with a strong genetic basis. Recently, a significant association between rare copy number variations (CNVs) and short stature has been identified, and candidate...
16.
Pasaniuc B, Zaitlen N, Shi H, Bhatia G, Gusev A, Pickrell J, et al.
Bioinformatics
. 2014 Jul;
30(20):2906-14.
PMID: 24990607
Motivation: Imputation using external reference panels (e.g. 1000 Genomes) is a widely used approach for increasing power in genome-wide association studies and meta-analysis. Existing hidden Markov models (HMM)-based imputation approaches...
17.
Evans D, Brion M, Paternoster L, Kemp J, McMahon G, Munafo M, et al.
PLoS Genet
. 2013 Nov;
9(10):e1003919.
PMID: 24204319
It is common practice in genome-wide association studies (GWAS) to focus on the relationship between disease risk and genetic variants one marker at a time. When relevant genes are identified...
18.
Hu Y, Berndt S, Gustafsson S, Ganna A, Hirschhorn J, North K, et al.
Am J Hum Genet
. 2013 Jul;
93(2):236-48.
PMID: 23891470
Meta-analysis of genome-wide association studies (GWASs) has led to the discoveries of many common variants associated with complex human diseases. There is a growing recognition that identifying "causal" rare variants...
19.
Demerath E, Liu C, Franceschini N, Chen G, Palmer J, Smith E, et al.
Hum Mol Genet
. 2013 Apr;
22(16):3329-46.
PMID: 23599027
African-American (AA) women have earlier menarche on average than women of European ancestry (EA), and earlier menarche is a risk factor for obesity and type 2 diabetes among other chronic...
20.
Vergult S, Dauber A, Delle Chiaie B, Van Oudenhove E, Simon M, Rihani A, et al.
Eur J Hum Genet
. 2011 Dec;
20(5):534-9.
PMID: 22166941
Although microdeletions of the long arm of chromosome 17 are being reported with increasing frequency, deletions of chromosome band 17q24.2 are rare. Here we report four patients with a microdeletion...