Michael P Epstein
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Explore the profile of Michael P Epstein including associated specialties, affiliations and a list of published articles.
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124
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4499
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Recent Articles
1.
Ellis C, Ottman R, Epstein M, Berkovic S, Oliver K
Epilepsia
. 2025 Mar;
PMID: 40047626
Objective: Although previous research shows that generalized and focal epilepsies have at least some distinct genetic influences, it remains uncertain why some families manifest both types of epilepsy. We tested...
2.
Robinson K, Robinson K, Singh S, Walkup R, Fawwal D, Adeyemo W, et al.
medRxiv
. 2025 Jan;
PMID: 39867391
Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by lower lip pits and orofacial clefts (OFCs). With a prevalence of approximately 1 in 35,000 live births, it...
3.
Bass A, Cutler D, Epstein M
bioRxiv
. 2024 Dec;
PMID: 39677786
Differential co-expression analysis (DCA) aims to identify genes in a pathway whose shared expression depends on a risk factor. While DCA provides insights into the biological activity of diseases, existing...
4.
Robinson K, Parrish R, Adeyemo W, Beaty T, Butali A, Buxo C, et al.
Hum Genet
. 2024 Oct;
143(11):1341-1352.
PMID: 39361040
Structural birth defects affect 3-4% of all live births and, depending on the type, tend to manifest in a sex-biased manner. Orofacial clefts (OFCs) are the most common craniofacial structural...
5.
Bian S, Bass A, Liu Y, Wingo A, Wingo T, Cutler D, et al.
bioRxiv
. 2024 Sep;
PMID: 39314278
Family-based heritability estimates of complex traits are often considerably larger than their single-nucleotide polymorphism (SNP) heritability estimates. This discrepancy may be due to non-additive effects of genetic variation, including variation...
6.
Ellis C, Oliver K, Harris R, Ottman R, Scheffer I, Mefford H, et al.
Am J Hum Genet
. 2024 Aug;
111(9):1805-1809.
PMID: 39168121
Polygenic risk scores (PRSs) are an important tool for understanding the role of common genetic variants in human disease. Standard best practices recommend that PRSs be analyzed in cohorts that...
7.
Parrish R, Buchman A, Tasaki S, Wang Y, Avey D, Xu J, et al.
Nat Commun
. 2024 Aug;
15(1):6646.
PMID: 39103319
Multiple reference panels of a given tissue or multiple tissues often exist, and multiple regression methods could be used for training gene expression imputation models for transcriptome-wide association studies (TWAS)....
8.
Hu T, Parrish R, Dai Q, Buchman A, Tasaki S, Bennett D, et al.
Am J Hum Genet
. 2024 Jul;
111(9):1848-1863.
PMID: 39079537
Transcriptome-wide association study (TWAS) tools have been applied to conduct proteome-wide association studies (PWASs) by integrating proteomics data with genome-wide association study (GWAS) summary data. The genetic effects of PWAS-identified...
9.
Robinson K, Parrish R, Adeyemo W, Beaty T, Butali A, Buxo C, et al.
medRxiv
. 2024 May;
PMID: 38746184
Structural birth defects affect 3-4% of all live births and, depending on the type, tend to manifest in a sex-biased manner. Orofacial clefts (OFCs) are the most common craniofacial structural...
10.
Ellis C, Tu D, Oliver K, Mefford H, Hauser W, Buchhalter J, et al.
Epilepsia
. 2024 May;
65(7):2030-2040.
PMID: 38738647
Objective: To assess the possible effects of genetics on seizure outcome by estimating the familial aggregation of three outcome measures: seizure remission, history of ≥4 tonic-clonic seizures, and seizure control...