J N Hirschhorn
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Explore the profile of J N Hirschhorn including associated specialties, affiliations and a list of published articles.
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Articles
16
Citations
1921
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0
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Recent Articles
1.
Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height
Papadopoulou A, Litkowski E, Graff M, Wang Z, Smit R, Chittoor G, et al.
NPJ Genom Med
. 2025 Feb;
10(1):14.
PMID: 40016231
We performed ancestry and sex specific Phenome Wide Association Studies (PheWAS) to explore disease related outcomes associated with genetically predicted height. This is the largest PheWAS on genetically predicted height...
2.
Smyth L, Kilner J, Nair V, Liu H, Brennan E, Kerr K, et al.
Clin Epigenetics
. 2021 May;
13(1):99.
PMID: 33933144
Background: A subset of individuals with type 1 diabetes mellitus (T1DM) are predisposed to developing diabetic kidney disease (DKD), the most common cause globally of end-stage kidney disease (ESKD). Emerging...
3.
Speakman J, Loos R, ORahilly S, Hirschhorn J, Allison D
Int J Obes (Lond)
. 2018 Jul;
42(8):1524-1531.
PMID: 29980761
Muller et al. [1] have provided a strong critique of the Genome-Wide Association Studies (GWAS) of body-mass index (BMI), arguing that the GWAS approach for the study of BMI is...
4.
Swartz J, Ciarlo R, Denhoff E, Abrha A, Diamond D, Hirschhorn J, et al.
J Pediatr Urol
. 2017 Feb;
13(3):293.e1-293.e6.
PMID: 28215832
Background: Bifid scrotum and hypospadias can be signs of undervirilization, yet boys presenting with these findings often do not undergo genetic evaluation. In some cases, identifying an underlying genetic diagnosis...
5.
MacArthur D, Manolio T, Dimmock D, Rehm H, Shendure J, Abecasis G, et al.
Nature
. 2014 Apr;
508(7497):469-76.
PMID: 24759409
The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing disease-causing sequence variants from the many potentially functional variants present in any human genome are urgently needed....
6.
Carmichael H, Shen Y, Nguyen T, Hirschhorn J, Dauber A
Clin Genet
. 2012 Nov;
84(3):213-22.
PMID: 23167750
Whole exome sequencing and chromosomal microarrays are two powerful technologies that have transformed the ability of researchers to search for potentially causal variants in human disease. This study combines these...
7.
Florez J, Sjogren M, Agapakis C, Burtt N, Almgren P, Lindblad U, et al.
Diabetologia
. 2007 Apr;
50(6):1209-17.
PMID: 17443311
Aims/hypothesis: Activation of the insulin receptor substrate-1 (IRS1) is a key initial step in the insulin signalling pathway. Despite several reports of association of the G972R polymorphism in its gene...
8.
Hunter D, Riboli E, Haiman C, Albanes D, Altshuler D, Chanock S, et al.
Nat Rev Cancer
. 2005 Dec;
5(12):977-85.
PMID: 16341085
Most cases of breast and prostate cancer are not associated with mutations in known high-penetrance genes, indicating the involvement of multiple low-penetrance risk alleles. Studies that have attempted to identify...
9.
Grand R, Montgomery R, Chitkara D, Hirschhorn J
Gut
. 2003 Apr;
52(5):617-9.
PMID: 12692040
No abstract available.
10.
Hirschhorn J, Lindgren C, Daly M, Kirby A, Schaffner S, Burtt N, et al.
Am J Hum Genet
. 2001 Jun;
69(1):106-16.
PMID: 11410839
Genomewide linkage analysis has been extremely successful at identification of the genetic variation underlying single-gene disorders. However, linkage analysis has been less successful for common human diseases and other complex...