Michael Epstein PhD

Department of Human Genetics
Professor

(404) 712-8289
mpepste@emory.edu

615 Michael Street
Suite 305L
Atlanta, GA 30322

Overview

My research focuses on statistical techniques for human gene mapping of complex traits. This work involves two synergistic components: a methodological component focused on developing novel statistical techniques for improved gene mapping and an applied component focused on using existing methods to map genes involved in diseases such as schizophrenia, epilepsy, and post-traumatic stress disorder.

I am also Director of the Center for Computational and Quantitative Genetics at Emory. The Center's focus is on development and application of quantitative tools for mapping genes involved in human traits.

Academic Appointment

Professor, Department of Human Genetics, Emory University
Adjunct Professor, Department of Biostatistics and Bioinformatics, Emory University

Education

Degrees

PhD from University of Michigan
M.S. from University of Michigan
BS from Duke University

Research

Focus

My research focuses on statistical techniques for human gene mapping of complex traits. This work involves two synergistic components: a methodological component focused on developing novel statistical techniques for improved gene mapping and an applied component focused on using existing methods to map genes involved in diseases such as schizophrenia.

Publications

Phenotypic heterogeneity in familial epilepsies is influenced by polygenic risk for generalized and focal epilepsies.
Epilepsia
03/06/2025 Authors: Ellis CA; Ottman R; Epstein MP; Epi4K Consortium; Berkovic SF; Oliver KL
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.

01/17/2025 Authors: Robinson K; Singh SK; Walkup RB; Fawwal DV; Adeyemo WL; Beaty TH; Butali A; Bux CJ; Chung WK; Cutler DJ
A powerful framework for differential co-expression analysis of general risk factors.

12/03/2024 Authors: Bass AJ; Cutler DJ; Epstein MP
Genome-wide study of gene-by-sex interactions identifies risks for cleft palate.
Hum Genet Volume: 143 Page(s): 1341 - 1352
11/01/2024 Authors: Robinson K; Parrish R; Adeyemo WL; Beaty TH; Butali A; Bux CJ; Gowans LJJ; Hecht JT; Moreno Uribe L; Murray JC
Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.
EBioMedicine Volume: 109 Page(s): 105404
11/01/2024 Authors: Oliver KL; Scheffer IE; Ellis CA; Grinton BE; Epi4K Consortium; Berkovic SF; Bahlo M
Diet and Survival in Black Women With Epithelial Ovarian Cancer.
JAMA Netw Open Volume: 7 Page(s): e2440279
10/01/2024 Authors: Armidie TA; Bandera EV; Johnson CE; Peres LC; Haller K; Terry P; Akonde M; Peters ES; Cote ML; Hastert TA
SCAMPI: A scalable statistical framework for genome-wide interaction testing harnessing cross-trait correlations.

09/14/2024 Authors: Bian S; Bass AJ; Liu Y; Wingo AP; Wingo T; Cutler DJ; Epstein MP
Omnibus proteome-wide association study identifies 43 risk genes for Alzheimer disease dementia.
Am J Hum Genet Volume: 111 Page(s): 1848 - 1863
09/05/2024 Authors: Hu T; Parrish RL; Dai Q; Buchman AS; Tasaki S; Bennett DA; Seyfried NT; Epstein MP; Yang J
Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias.
Am J Hum Genet Volume: 111 Page(s): 1805 - 1809
09/05/2024 Authors: Ellis CA; Oliver KL; Harris RV; Ottman R; Scheffer IE; Mefford HC; Epstein MP; Berkovic SF; Bahlo M
Proteome-wide association studies using summary pQTL data of three tissues identified 30 risk genes of Alzheimer's disease dementia.

09/04/2024 Authors: Hu T; Liu Q; Dai Q; Parrish RL; Buchman AS; Tasaki S; Seyfried NT; Wang Y; Bennett DA; De Jager PL
MorphLink: Bridging Cell Morphological Behaviors and Molecular Dynamics in Multi-modal Spatial Omics.
bioRxiv
08/26/2024 Authors: Huang J; Yuan C; Jiang J; Chen J; Badve SS; Gokmen-Polar Y; Segura RL; Yan X; Lazar A; Gao J
SR-TWAS: leveraging multiple reference panels to improve transcriptome-wide association study power by ensemble machine learning.
Nat Commun Volume: 15 Page(s): 6646
08/05/2024 Authors: Parrish RL; Buchman AS; Tasaki S; Wang Y; Avey D; Xu J; De Jager PL; Bennett DA; Epstein MP; Yang J
Familial aggregation of seizure outcomes in four familial epilepsy cohorts.
Epilepsia Volume: 65 Page(s): 2030 - 2040
07/01/2024 Authors: Ellis CA; Tu D; Oliver KL; Mefford HC; Hauser WA; Buchhalter J; Epstein MP; Cao Q; EPGP Consortium; Epi4K Consortium
Cis- and trans-eQTL TWASs of breast and ovarian cancer identify more than 100 susceptibility genes in the BCAC and OCAC consortia.
Am J Hum Genet Volume: 111 Page(s): 1084 - 1099
06/06/2024 Authors: Head ST; Dezem F; Todor A; Yang J; Plummer J; Gayther S; Kar S; Schildkraut J; Epstein MP
SR-TWAS: Leveraging Multiple Reference Panels to Improve TWAS Power by Ensemble Machine Learning.
medRxiv
05/13/2024 Authors: Parrish RL; Buchman AS; Tasaki S; Wang Y; Avey D; Xu J; De Jager PL; Bennett DA; Epstein MP; Yang J
Genome-wide study of gene-by-sex interactions identifies risks for cleft palate.
medRxiv
05/03/2024 Authors: Robinson K; Parrish R; Adeyemo WL; Beaty TH; Butali A; Bux CJ; Gowans LJ; Hecht JT; Moreno L; Murray JC
Identifying latent genetic interactions in genome-wide association studies using multiple traits.
Genome Med Volume: 16 Page(s): 62
04/25/2024 Authors: Bass AJ; Bian S; Wingo AP; Wingo TS; Cutler DJ; Epstein MP
The role of copy number variants in the genetic architecture of common familial epilepsies.
Epilepsia Volume: 65 Page(s): 792 - 804
03/01/2024 Authors: Epi4K Consortium
Mapping inherited genetic variation with opposite effects on autoimmune disease and cancer identifies candidate drug targets associated with the anti-tumor immune response.
medRxiv
12/28/2023 Authors: Chen J; Epstein MP; Schildkraut JM; Kar SP
STACCato: Supervised Tensor Analysis tool for studying Cell-cell Communication using scRNA-seq data across multiple samples and conditions.

12/16/2023 Authors: Dai Q; Epstein MP; Yang J
Pruning and thresholding approach for methylation risk scores in multi-ancestry populations.
Epigenetics Volume: 18 Page(s): 2187172
12/01/2023 Authors: Chen J; Gatev E; Everson T; Conneely KN; Koen N; Epstein MP; Kobor MS; Zar HJ; Stein DJ; Hls A
Cis- and trans-eQTL TWAS of breast and ovarian cancer identify more than 100 risk associated genes in the BCAC and OCAC consortia.
bioRxiv
11/13/2023 Authors: Head ST; Dezem F; Todor A; Yang J; Plummer J; Gayther S; Kar S; Schildkraut J; Epstein MP
Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.
HGG Adv Volume: 4 Page(s): 100234
10/12/2023 Authors: Robinson K; Mosley TJ; Rivera-Gonzlez KS; Jabbarpour CR; Curtis SW; Adeyemo WL; Beaty TH; Butali A; Bux CJ; Cutler DJ
Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.
Genet Med Volume: 25 Page(s): 100918
10/01/2023 Authors: Diaz Perez KK; Curtis SW; Sanchis-Juan A; Zhao X; Head T; Ho S; Carter B; McHenry T; Bishop MR; Valencia-Ramirez LC
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?
Am J Med Genet A Volume: 191 Page(s): 2558 - 2570
10/01/2023 Authors: Diaz Perez KK; Chung S; Head ST; Epstein MP; Hecht JT; Wehby GL; Weinberg SM; Murray JC; Marazita ML; Leslie EJ
Association of inflammation-related exposures and ovarian cancer survival in a multi-site cohort study of Black women.
Br J Cancer Volume: 129 Page(s): 1119 - 1125
10/01/2023 Authors: Johnson CE; Alberg AJ; Bandera EV; Peres LC; Akonde M; Collin LJ; Cote ML; Hastert TA; Hbert JR; Peters ES
Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes.
Hum Genet Volume: 142 Page(s): 1531 - 1541
10/01/2023 Authors: Curtis SW; Carlson JC; Beaty TH; Murray JC; Weinberg SM; Marazita ML; Cotney JL; Cutler DJ; Epstein MP; Leslie EJ
CILIARY AND CELL STRUCTURE GENE VARIANTS CONTRIBUTE TO THE ETIOPATHOGENESIS OF BILIARY ATRESIA (BA): EXOME AND SNP ARRAY ANALYSIS OF > 1700 NORTH AMERICAN CHILDREN WITH BA
Volume: 78 Page(s): S129 - S131
10/01/2023 Authors: Chopra P; Guthery S; Johnston R; Cutler D; Moore B; Claussen H; Epstein M; Mac M; Hellen D; Rajagopalan R
Identifying latent genetic interactions in genome-wide association studies using multiple traits.
bioRxiv
09/13/2023 Authors: Bass AJ; Bian S; Wingo AP; Wingo TS; Cutler DJ; Epstein MP
Sex differences in brain protein expression and disease.
Nat Med Volume: 29 Page(s): 2224 - 2232
09/01/2023 Authors: Wingo AP; Liu Y; Gerasimov ES; Vattathil SM; Liu J; Cutler DJ; Epstein MP; Blokland GAM; Thambisetty M; Troncoso JC
Cerebrospinal fluid proteomics define the natural history of autosomal dominant Alzheimer's disease.
Nat Med Volume: 29 Page(s): 1979 - 1988
08/01/2023 Authors: Johnson ECB; Bian S; Haque RU; Carter EK; Watson CM; Gordon BA; Ping L; Duong DM; Epstein MP; McDade E
Enrichment of De Novo Variants in 491 Cleft Palate Trios
Volume: 115 Page(s): 853 - 853
05/01/2023 Authors: Robinson K; Curtis S; Beaty TH; Butali A; Cutler DJ; Epstein MP; Buxo-Martinez CJ; Shaw GM; Hecht JT; Uribe ML
Integrating Human Brain Proteomes With GWAS Results to Identify Causal Brain Proteins for the Major Psychiatric Disorders
Volume: 93 Page(s): S55 - S56
05/01/2023 Authors: Wingo T; Liu Y; Gerasimov ES; Vattathil S; Liu J; Cutler D; Epstein M; Blokland G; Duong D; Bennett D
Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.
medRxiv
04/06/2023 Authors: Robinson K; Mosley TJ; Rivera-Gonzlez KS; Jabbarpour CR; Curtis SW; Adeyemo WL; Beaty TH; Butali A; Bux CJ; Cutler DJ
POIROT: a powerful test for parent-of-origin effects in unrelated samples leveraging multiple phenotypes.
Bioinformatics Volume: 39
04/03/2023 Authors: Head ST; Leslie EJ; Cutler DJ; Epstein MP
Rare genetic variants in SEC24D modify orofacial cleft phenotypes.
medRxiv
03/27/2023 Authors: Curtis SW; Carlson JC; Beaty TH; Murray JC; Weinberg SM; Marazita ML; Cotney JL; Cutler DJ; Epstein MP; Leslie EJ
OTTERS: a powerful TWAS framework leveraging summary-level reference data.
Nat Commun Volume: 14 Page(s): 1271
03/07/2023 Authors: Dai Q; Zhou G; Zhao H; Vsa U; Franke L; Battle A; Teumer A; Lehtimki T; Raitakari OT; Esko T
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?
medRxiv
02/07/2023 Authors: Perez KKD; Chung S; Head ST; Epstein MP; Hecht JT; Wehby GL; Weinberg SM; Murray JC; Marazita ML; Leslie EJ
Newborn differential DNA methylation and subcortical brain volumes as early signs of severe neurodevelopmental delay in a South African Birth Cohort Study.
World J Biol Psychiatry Volume: 23 Page(s): 601 - 612
10/01/2022 Authors: Hls A; Wedderburn CJ; Groenewold NA; Gladish N; Jones MJ; Koen N; MacIsaac JL; Lin DTS; Ramadori KE; Epstein MP
Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons.
Am J Hum Genet Volume: 109 Page(s): 1500 - 1519
08/04/2022 Authors: Kozlova A; Zhang S; Kotlar AV; Jamison B; Zhang H; Shi S; Forrest MP; McDaid J; Cutler DJ; Epstein MP
Efficient estimation of indirect effects in case-control studies using a unified likelihood framework.
Stat Med Volume: 41 Page(s): 2879 - 2893
07/10/2022 Authors: Satten GA; Curtis SW; Solis-Lemus C; Leslie EJ; Epstein MP
Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.
EBioMedicine Volume: 81 Page(s): 104079
07/01/2022 Authors: Oliver KL; Ellis CA; Scheffer IE; Ganesan S; Leu C; Sadleir LG; Heinzen EL; Mefford HC; Bass AJ; Curtis SW
Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome.
Proc Natl Acad Sci U S A Volume: 119 Page(s): e2118124119
05/31/2022 Authors: Kong HE; Lim J; Linsalata A; Kang Y; Malik I; Allen EG; Cao Y; Shubeck L; Johnston R; Huang Y
Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.
Epilepsia Volume: 63 Page(s): 723 - 735
03/01/2022 Authors: Koko M; Motelow JE; Stanley KE; Bobbili DR; Dhindsa RS; May P; Canadian Epilepsy Network; Epi4K Consortium; Epilepsy Phenome/Genome Project; EpiPGX Consortium
Metabolic effects of the schizophrenia-associated 3q29 deletion.
Transl Psychiatry Volume: 12 Page(s): 66
02/17/2022 Authors: Pollak RM; Purcell RH; Rutkowski TP; Malone T; Pachura KJ; Bassell GJ; Epstein MP; Dawson PA; Smith MR; Jones DP
Brain DNA Methylation Patterns in CLDN5 Associated With Cognitive Decline.
Biol Psychiatry Volume: 91 Page(s): 389 - 398
02/15/2022 Authors: Hls A; Robins C; Conneely KN; Edgar R; De Jager PL; Bennett DA; Wingo AP; Epstein MP; Wingo TS
TIGAR-V2: Efficient TWAS tool with nonparametric Bayesian eQTL weights of 49 tissue types from GTEx V8.
HGG Adv Volume: 3 Page(s): 100068
01/13/2022 Authors: Parrish RL; Gibson GC; Epstein MP; Yang J
Omnibus proteome-wide association study (PWAS-O) identified 43 risk genes for Alzheimers disease dementia

01/01/2022 Authors: Hu T; Parrish R; Dai Q; Buchman A; Tasaki S; Bennett D; Seyfried N; Epstein M; Yang J
Noise-augmented directional clustering of genetic association data identifies distinct mechanisms underlying obesity
PLOS GENETICS Volume: 18
01/01/2022 Authors: Grant A; Gill DP; Kirk PDW; Burgess SP; Balding D; Epstein MP
Association between maternal depression during pregnancy and newborn DNA methylation.
Transl Psychiatry Volume: 11 Page(s): 572
11/08/2021 Authors: Drzymalla E; Gladish N; Koen N; Epstein MP; Kobor MS; Zar HJ; Stein DJ; Hls A
FAT4 identified as a potential modifier of orofacial cleft laterality.
Genet Epidemiol Volume: 45 Page(s): 721 - 735
10/01/2021 Authors: Curtis SW; Chang D; Sun MR; Epstein MP; Murray JC; Feingold E; Beaty TH; Weinberg SM; Marazita ML; Lipinski RJ
Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.
Fertil Steril Volume: 116 Page(s): 843 - 854
09/01/2021 Authors: Trevino CE; Rounds JC; Charen K; Shubeck L; Hipp HS; Spencer JB; Johnston HR; Cutler DJ; Zwick ME; Epstein MP
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Mol Psychiatry Volume: 26 Page(s): 4496 - 4510
08/01/2021 Authors: Cleynen I; Engchuan W; Hestand MS; Heung T; Holleman AM; Johnston HR; Monfeuga T; McDonald-McGinn DM; Gur RE; Morrow BE
Author Correction: Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.
Sci Rep Volume: 11 Page(s): 15164
07/20/2021 Authors: Trevino CE; Holleman AM; Corbitt H; Maslen CL; Rosser TC; Cutler DJ; Johnston HR; Rambo-Martin BL; Oberoi J; Dooley KJ
Craniofacial features of 3q29 deletion syndrome: Application of next-generation phenotyping technology.
Am J Med Genet A Volume: 185 Page(s): 2094 - 2101
07/01/2021 Authors: Mak BC; Sanchez Russo R; Gambello MJ; Fleischer N; Black ED; Leslie E; Murphy MM; Emory 3q29 Project; Mulle JG
Brain proteome-wide association study implicates novel proteins in depression pathogenesis.
Nat Neurosci Volume: 24 Page(s): 810 - 817
06/01/2021 Authors: Wingo TS; Liu Y; Gerasimov ES; Gockley J; Logsdon BA; Duong DM; Dammer EB; Lori A; Kim PJ; Ressler KJ
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.
Genet Med Volume: 23 Page(s): 872 - 880
05/01/2021 Authors: Sanchez Russo R; Gambello MJ; Murphy MM; Aberizk K; Black E; Burrell TL; Carlock G; Cubells JF; Epstein MT; Espana R
The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip.
HGG Adv Volume: 2
04/08/2021 Authors: Curtis SW; Chang D; Lee MK; Shaffer JR; Indencleef K; Epstein MP; Cutler DJ; Murray JC; Feingold E; Beaty TH
Novel Variance-Component TWAS method for studying complex human diseases with applications to Alzheimer's dementia.
PLoS Genet Volume: 17 Page(s): e1009482
04/01/2021 Authors: Tang S; Buchman AS; De Jager PL; Bennett DA; Epstein MP; Yang J
Diverse genetic causes of polymicrogyria with epilepsy.
Epilepsia Volume: 62 Page(s): 973 - 983
04/01/2021 Authors: Epilepsy Phenome/Genome Project, Epi4K Consortium
Behavioral changes and growth deficits in a CRISPR engineered mouse model of the schizophrenia-associated 3q29 deletion.
Mol Psychiatry Volume: 26 Page(s): 772 - 783
03/01/2021 Authors: Rutkowski TP; Purcell RH; Pollak RM; Grewenow SM; Gafford GM; Malone T; Khan UA; Schroeder JP; Epstein MP; Bassell GJ
Integrating human brain proteomes with genome-wide association data implicates new proteins in Alzheimer's disease pathogenesis.
Nat Genet Volume: 53 Page(s): 143 - 146
02/01/2021 Authors: Wingo AP; Liu Y; Gerasimov ES; Gockley J; Logsdon BA; Duong DM; Dammer EB; Robins C; Beach TG; Reiman EM
Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors.
Epilepsia Volume: 61 Page(s): 2667 - 2674
12/01/2020 Authors: Ellis CA; Ottman R; Epstein MP; Berkovic SF; Epi4K Consortium
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome.
Nat Med Volume: 26 Page(s): 1912 - 1918
12/01/2020 Authors: Davies RW; Fiksinski AM; Breetvelt EJ; Williams NM; Hooper SR; Monfeuga T; Bassett AS; Owen MJ; Gur RE; Morrow BE
Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.
Sci Rep Volume: 10 Page(s): 18051
10/22/2020 Authors: Trevino CE; Holleman AM; Corbitt H; Maslen CL; Rosser TC; Cutler DJ; Johnston HR; Rambo-Martin BL; Oberoi J; Dooley KJ
Association between DNA methylation levels in brain tissue and late-life depression in community-based participants.
Transl Psychiatry Volume: 10 Page(s): 262
07/30/2020 Authors: Hls A; Robins C; Conneely KN; De Jager PL; Bennett DA; Epstein MP; Wingo TS; Wingo AP
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.
Am J Hum Genet Volume: 107 Page(s): 124 - 136
07/02/2020 Authors: Bishop MR; Diaz Perez KK; Sun M; Ho S; Chopra P; Mukhopadhyay N; Hetmanski JB; Taub MA; Moreno-Uribe LM; Valencia-Ramirez LC
Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report.
BMC Psychiatry Volume: 20 Page(s): 184
04/22/2020 Authors: Murphy MM; Burrell TL; Cubells JF; Epstein MT; Espana R; Gambello MJ; Goines K; Klaiman C; Koh S; Russo RS
Leveraging Family History in Case-Control Analyses of Rare Variation.
Genetics Volume: 214 Page(s): 295 - 303
02/01/2020 Authors: Solis-Lemus CR; Fischer ST; Todor A; Liu C; Leslie EJ; Cutler DJ; Ghosh D; Epstein MP
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Am J Hum Genet Volume: 106 Page(s): 26 - 40
01/02/2020 Authors: Zhao Y; Diacou A; Johnston HR; Musfee FI; McDonald-McGinn DM; McGinn D; Crowley TB; Repetto GM; Swillen A; Breckpot J
The "maternal effect" on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence.
Ann Neurol Volume: 87 Page(s): 132 - 138
01/01/2020 Authors: Ellis CA; Berkovic SF; Epstein MP; Ottman R; Epi4K Consortium
Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies.
Epilepsia Volume: 60 Page(s): 2194 - 2203
11/01/2019 Authors: Epi4K Consortium
METABOLIC DYSFUNCTION AS A CONTRIBUTOR TO PHENOTYPES OF THE SCHIZOPHRENIA-ASSOCIATED 3Q29 DELETION
Volume: 29 Page(s): S224 - S225
10/01/2019 Authors: Pollak R; Purcell R; Rutkowski T; Malone T; Pachura K; Bassell GJ; Epstein MP; Caspary T; Dawson PA; Jones DP
TIGAR: An Improved Bayesian Tool for Transcriptomic Data Imputation Enhances Gene Mapping of Complex Traits.
Am J Hum Genet Volume: 105 Page(s): 258 - 266
08/01/2019 Authors: Nagpal S; Meng X; Epstein MP; Tsoi LC; Patrick M; Gibson G; De Jager PL; Bennett DA; Wingo AP; Wingo TS
Efficacy and safety of ombitasvir/paritaprevir/ritonavir and dasabuvir with low-dose ribavirin in patients with chronic hepatitis C virus genotype 1a infection without cirrhosis.
J Viral Hepat Volume: 26 Page(s): 1027 - 1030
08/01/2019 Authors: Poordad F; Sedghi S; Pockros PJ; Ravendhran N; Reindollar R; Lucey MR; Epstein M; Bank L; Bernstein D; Trinh R
Rare variants in MYH15 modify amyotrophic lateral sclerosis risk.
Hum Mol Genet Volume: 28 Page(s): 2309 - 2318
07/15/2019 Authors: Kim H; Lim J; Bao H; Jiao B; Canon SM; Epstein MP; Xu K; Jiang J; Parameswaran J; Li Y
Epilepsy in families: Age at onset is a familial trait, independent of syndrome.
Ann Neurol Volume: 86 Page(s): 91 - 98
07/01/2019 Authors: Ellis CA; Churilov L; Epstein MP; Xie SX; Bellows ST; Ottman R; Berkovic SF; Epi4K Consortium
Powerful and Efficient Strategies for Genetic Association Testing of Symptom and Questionnaire Data in Psychiatric Genetic Studies.
Sci Rep Volume: 9 Page(s): 7523
05/17/2019 Authors: Holleman AM; Broadaway KA; Duncan R; Todor A; Almli LM; Bradley B; Ressler KJ; Ghosh D; Mulle JG; Epstein MP
MORE LESIONS PER PATIENT DETECTED WITH HIGH-QUALITY VERSUS ADEQUATE COLON CLEANSING: A POST HOC ANALYSIS OF UNIFORM SEGMENTAL CLEANSING SCORES USING THE HAREFIELD CLEANSING SCALE
Volume: 156 Page(s): S377 - S377
05/01/2019 Authors: Esteban JM; Mokashi S; Epstein M
Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy
NEW ENGLAND JOURNAL OF MEDICINE Volume: 380
04/18/2019 Authors: Lerche H; Berkovic SF; Lowenstein DH; May P; Wolking S; Musa MK; Lal D; Heyne HO; Bobbili DR; Perez-Palma E
Developmental Outcomes in Duarte Galactosemia.
Pediatrics Volume: 143
01/01/2019 Authors: Carlock G; Fischer ST; Lynch ME; Potter NL; Coles CD; Epstein MP; Mulle JG; Kable JA; Barrett CE; Edwards SM
Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry.
Mol Autism Volume: 10 Page(s): 30
01/01/2019 Authors: Pollak RM; Murphy MM; Epstein MP; Zwick ME; Klaiman C; Saulnier CA; Emory 3q29 Project; Mulle JG
SCHIZOPHRENIA POLYGENIC RISK SCORE ANALYSIS IN 22Q11.2 DELETION SYNDROME
Volume: 29 Page(s): 1069 - 1070
01/01/2019 Authors: Monfeuga T; Epstein MP; Holleman AM; Cleynen I; Johnston H; Zhao Y; McDonald-McGinn DM; Gur RE; Warren ST; Vermeesch J
Robust Rare-Variant Association Tests For Quantitative Traits in General Pedigrees.
Stat Biosci Volume: 10 Page(s): 491 - 505
12/01/2018 Authors: Jiang Y; Conneely KN; Epstein MP
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
Am J Med Genet A Volume: 176 Page(s): 2172 - 2181
10/01/2018 Authors: Zhao Y; Guo T; Fiksinski A; Breetvelt E; McDonald-McGinn DM; Crowley TB; Diacou A; Schneider M; Eliez S; Swillen A
Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Am J Hum Genet Volume: 103 Page(s): 457
09/06/2018 Authors: Demaerel W; Hestand MS; Vergaelen E; Swillen A; Lpez-Snchez M; Prez-Jurado LA; McDonald-McGinn DM; Zackai E; Emanuel BS; Morrow BE
Powerful and robust cross-phenotype association test for case-parent trios.
Genet Epidemiol Volume: 42 Page(s): 447 - 458
07/01/2018 Authors: Fischer ST; Jiang Y; Broadaway KA; Conneely KN; Epstein MP
Testing cross-phenotype effects of rare variants in longitudinal studies of complex traits.
Genet Epidemiol Volume: 42 Page(s): 320 - 332
06/01/2018 Authors: Rudra P; Broadaway KA; Ware EB; Jhun MA; Bielak LF; Zhao W; Smith JA; Peyser PA; Kardia SLR; Epstein MP
The Neuropsychiatric and Behavioral Phenotypes of 3q29 Deletion Syndrome
Volume: 83 Page(s): S262 - S262
05/01/2018 Authors: Pollak R; Murphy M; Epstein M; Zwick M; Saulnier C; Mulle J
Kernel machine methods for integrative analysis of genome-wide methylation and genotyping studies.
Genet Epidemiol Volume: 42 Page(s): 156 - 167
03/01/2018 Authors: Zhao N; Zhan X; Huang Y-T; Almli LM; Smith A; Epstein MP; Conneely K; Wu MC
Tracking evolution of aromatase inhibitor resistance with circulating tumour DNA analysis in metastatic breast cancer.
Ann Oncol Volume: 29 Page(s): 145 - 153
01/01/2018 Authors: Fribbens C; Garcia Murillas I; Beaney M; Hrebien S; O'Leary B; Kilburn L; Howarth K; Epstein M; Green E; Rosenfeld N
Development of a highly sensitive liquid biopsy platform to detect clinically-relevant cancer mutations at low allele fractions in cell-free DNA.
PLoS One Volume: 13 Page(s): e0194630
01/01/2018 Authors: Gale D; Lawson ARJ; Howarth K; Madi M; Durham B; Smalley S; Calaway J; Blais S; Jones G; Clark J
Analytical validation of a next generation sequencing liquid biopsy assay for high sensitivity broad molecular profiling.
PLoS One Volume: 13 Page(s): e0193802
01/01/2018 Authors: Plagnol V; Woodhouse S; Howarth K; Lensing S; Smith M; Epstein M; Madi M; Smalley S; Leroy C; Hinton J
Isolation and Comparative Transcriptome Analysis of Human Fetal and iPSC-Derived Cone Photoreceptor Cells.
Stem Cell Reports Volume: 9 Page(s): 1898 - 1915
12/12/2017 Authors: Welby E; Lakowski J; Di Foggia V; Budinger D; Gonzalez-Cordero A; Lun ATL; Epstein M; Patel A; Cuevas E; Kruczek K
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Am J Hum Genet Volume: 101 Page(s): 616 - 622
10/05/2017 Authors: Demaerel W; Hestand MS; Vergaelen E; Swillen A; Lpez-Snchez M; Prez-Jurado LA; McDonald-McGinn DM; Zackai E; Emanuel BS; Morrow BE
Reply to Plss et al.: The strength of PEMapper/PECaller lies in unbiased calling using large sample sizes.
Proc Natl Acad Sci U S A Volume: 114 Page(s): E8323
10/03/2017 Authors: Johnston HR; Chopra P; Wingo TS; Patel V; Epstein MP; Mulle JG; Warren ST; Zwick ME; Cutler DJ
Powerful Genetic Association Analysis for Common or Rare Variants with High-Dimensional Structured Traits.
Genetics Volume: 206 Page(s): 1779 - 1790
08/01/2017 Authors: Zhan X; Zhao N; Plantinga A; Thornton TA; Conneely KN; Epstein MP; Wu MC
Phenotypic analysis of 303 multiplex families with common epilepsies.
Brain Volume: 140 Page(s): 2144 - 2156
08/01/2017 Authors: Epi4K Consortium
Links Between the Sequence Kernel Association and the Kernel-Based Adaptive Cluster Tests
Statistics in Biosciences Volume: 9 Page(s): 246 - 258
06/01/2017 Authors: Zhang W; Epstein MP; Fingerlin TE; Ghosh D
Norepinephrine regulates cocaine-primed reinstatement via 1-adrenergic receptors in the medial prefrontal cortex.
Neuropharmacology Volume: 119 Page(s): 134 - 140
06/01/2017 Authors: Schmidt KT; Schroeder JP; Foster SL; Squires K; Smith BM; Pitts EG; Epstein MP; Weinshenker D
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data.
Eur J Hum Genet Volume: 25 Page(s): 894 - 899
06/01/2017 Authors: Epi4K Consortium; EuroEPINOMICS-RES Consortium; Epilepsy Phenome Genome Project
PEMapper and PECaller provide a simplified approach to whole-genome sequencing.
Proc Natl Acad Sci U S A Volume: 114 Page(s): E1923 - E1932
03/07/2017 Authors: Johnston HR; Chopra P; Wingo TS; Patel V; International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome; Epstein MP; Mulle JG; Warren ST; Zwick ME; Cutler DJ
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
Lancet Neurol Volume: 16 Page(s): 135 - 143
02/01/2017 Authors: Epi4K consortium; Epilepsy Phenome/Genome Project
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.
Am J Hum Genet Volume: 100 Page(s): 179
01/05/2017 Authors: EuroEPINOMICS-RES Consortium. Electronic address: euroepinomics-RES@ua.ac.be; Epilepsy Phenome/Genome Project; Epi4K Consortium; EuroEPINOMICS-RES Consortium
Gastrointestinal Health in Classic Galactosemia.
JIMD Rep Volume: 33 Page(s): 27 - 32
01/01/2017 Authors: Shaw KA; Mulle JG; Epstein MP; Fridovich-Keil JL
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
Am J Hum Genet Volume: 99 Page(s): 287 - 298
08/04/2016 Authors: Epi4K Consortium
Bayesian Statistical Inference in Ion-Channel Models with Exact Missed Event Correction.
Biophys J Volume: 111 Page(s): 333 - 348
07/26/2016 Authors: Epstein M; Calderhead B; Girolami MA; Sivilotti LG
Phenotypic Characterization of Juvenile Idiopathic Arthritis in African American Children.
Volume: 43 Page(s): 799 - 803
04/01/2016 Authors: Fitzpatrick L; Broadaway KA; Ponder L; Angeles-Han ST; Jenkins K; Rouster-Stevens K; Pelajo CF; Conneely K; Epstein MP; Lopez-Benitez J
Genetic effects on sleep/wake variation of seizures.
Epilepsia Volume: 57 Page(s): 557 - 565
04/01/2016 Authors: Winawer MR; Shih J; Beck ES; Hunter JE; Epstein MP; EPGP Investigators
Phenotypic Characterization of Juvenile Idiopathic Arthritis in African American Children
JOURNAL OF RHEUMATOLOGY Volume: 43 Page(s): 799 - 803
04/01/2016 Authors: Fitzpatrick L; Broadaway KA; Ponder L; Angeles-Han ST; Jenkins K; Rouster-Stevens K; Pelajo CF; Conneely K; Epstein MP; Lopez-Benitez J
A Statistical Approach for Testing Cross-Phenotype Effects of Rare Variants.
Am J Hum Genet Volume: 98 Page(s): 525 - 540
03/03/2016 Authors: Broadaway KA; Cutler DJ; Duncan R; Moore JL; Ware EB; Jhun MA; Bielak LF; Zhao W; Smith JA; Peyser PA
An Adaptive Genetic Association Test Using Double Kernel Machines.
Stat Biosci Volume: 7 Page(s): 262 - 281
10/01/2015 Authors: Zhan X; Epstein MP; Ghosh D
Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy.
Epilepsy Behav Volume: 51 Page(s): 321 - 327
10/01/2015 Authors: Fallil Z; Pardoe H; Bachman R; Cunningham B; Parulkar I; Shain C; Poduri A; Knowlton R; Kuzniecky R; EPGP Investigators
An Adaptive Genetic Association Test Using Double Kernel Machines
Statistics in Biosciences Volume: 7 Page(s): 262 - 281
10/01/2015 Authors: Zhan X; Epstein MP; Ghosh D
Identification of Shared Genomic Regions in Distantly Related Pairs of Cases with Juvenile Idiopathic Arthritis
ARTHRITIS & RHEUMATOLOGY Volume: 67
10/01/2015 Authors: Prahalad S; Broadaway KA; Bohnsack JF; Dodd A; Hersh AO; Angeles-Han ST; Jang SR; Sudman M; Thompson SD; Zwick M
Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
ANNALS OF NEUROLOGY Volume: 78 Page(s): 323 - 328
08/01/2015 Authors: Abou-Khalil B; Alldredge BK; Allen AS; Andermann E; Andermann F; Amrom D; Bautista JF; Berkovic SF; Boro A; Cascino G
Kernel Approach for Modeling Interaction Effects in Genetic Association Studies of Complex Quantitative Traits.
Genet Epidemiol Volume: 39 Page(s): 366 - 375
07/01/2015 Authors: Broadaway KA; Duncan R; Conneely KN; Almli LM; Bradley B; Ressler KJ; Epstein MP
Testing in Microbiome-Profiling Studies with MiRKAT, the Microbiome Regression-Based Kernel Association Test.
Am J Hum Genet Volume: 96 Page(s): 797 - 807
05/07/2015 Authors: Zhao N; Chen J; Carroll IM; Ringel-Kulka T; Epstein MP; Zhou H; Zhou JJ; Ringel Y; Li H; Wu MC
A statistical approach for rare-variant association testing in affected sibships.
Am J Hum Genet Volume: 96 Page(s): 543 - 554
04/02/2015 Authors: Epstein MP; Duncan R; Ware EB; Jhun MA; Bielak LF; Zhao W; Smith JA; Peyser PA; Kardia SLR; Satten GA
Correcting systematic inflation in genetic association tests that consider interaction effects: application to a genome-wide association study of posttraumatic stress disorder.
JAMA Psychiatry Volume: 71 Page(s): 1392 - 1399
12/01/2014 Authors: Almli LM; Duncan R; Feng H; Ghosh D; Binder EB; Bradley B; Ressler KJ; Conneely KN; Epstein MP
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
Am J Hum Genet Volume: 95 Page(s): 360 - 370
10/02/2014 Authors: EuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; Epi4K Consortium
Flexible and robust methods for rare-variant testing of quantitative traits in trios and nuclear families.
Genet Epidemiol Volume: 38 Page(s): 542 - 551
09/01/2014 Authors: Jiang Y; Conneely KN; Epstein MP
Capturing needles in haystacks: a comparison of B-cell receptor sequencing methods.
BMC Immunol Volume: 15 Page(s): 29
08/05/2014 Authors: Bashford-Rogers RJM; Palser AL; Idris SF; Carter L; Epstein M; Callard RE; Douek DC; Vassiliou GS; Follows GA; Hubank M
Utilizing population controls in rare-variant case-parent association tests.
Am J Hum Genet Volume: 94 Page(s): 845 - 853
06/05/2014 Authors: Jiang Y; Satten GA; Han Y; Epstein MP; Heinzen EL; Goldstein DB; Allen AS
Growth and Development of Children and Young Adults with Classic Galactosemia
Volume: 35
06/01/2014 Authors: Butler-Cephas AM; Broadaway KA; Epstein MP; Ditkoff EL; Fridovich-Keil JL
Accounting for population stratification in DNA methylation studies.
Genet Epidemiol Volume: 38 Page(s): 231 - 241
04/01/2014 Authors: Barfield RT; Almli LM; Kilaru V; Smith AK; Mercer KB; Duncan R; Klengel T; Mehta D; Binder EB; Epstein MP
Analysis of gene-gene interactions using gene-trait similarity regression.
Hum Hered Volume: 78 Page(s): 17 - 26
01/01/2014 Authors: Wang X; Epstein MP; Tzeng J-Y
Revealing individual signatures of human T cell CDR3 sequence repertoires with Kidera Factors.
PLoS One Volume: 9 Page(s): e86986
01/01/2014 Authors: Epstein M; Barenco M; Klein N; Hubank M; Callard RE
Racial and ethnic differences in epilepsy classification among probands in the Epilepsy Phenome/Genome Project (EPGP).
Epilepsy Res Volume: 107 Page(s): 306 - 310
12/01/2013 Authors: Friedman D; Fahlstrom R; EPGP Investigators
Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia.
J Inherit Metab Dis Volume: 36 Page(s): 1049 - 1061
11/01/2013 Authors: Ryan EL; Lynch ME; Taddeo E; Gleason TJ; Epstein MP; Fridovich-Keil JL
Lennox-Gastaut syndrome of unknown cause: phenotypic characteristics of patients in the Epilepsy Phenome/Genome Project.
Epilepsia Volume: 54 Page(s): 1898 - 1904
11/01/2013 Authors: Widdess-Walsh P; Dlugos D; Fahlstrom R; Joshi S; Shellhaas R; Boro A; Sullivan J; Geller E; EPGP Investigators
Meta-analysis confirms association between TNFA-G238A variant and JIA, and between PTPN22-C1858T variant and oligoarticular, RF-polyarticular and RF-positive polyarticular JIA.
Pediatr Rheumatol Online J Volume: 11 Page(s): 40
10/25/2013 Authors: Kaalla MJ; Broadaway KA; Rohani-Pichavant M; Conneely KN; Whiting A; Ponder L; Okou DT; Angeles-Han S; Rouster-Stevens K; Brown MR
Brominated flame retardant exposure: Heritability of age at menarche and menstrual cycle length
Break the Cycle of Environmental Health Disparities: Maternal and Child Health Aspects Page(s): 37 - 49
10/01/2013 Authors: Taylor KC; Small CM; Epstein MP; Terrell ML; Marcus M
De novo mutations in epileptic encephalopathies.
Nature Volume: 501 Page(s): 217 - 221
09/12/2013 Authors: Epi4K Consortium; Epilepsy Phenome/Genome Project; Allen AS; Berkovic SF; Cossette P; Delanty N; Dlugos D; Eichler EE; Epstein MP; Glauser T
The epilepsy phenome/genome project.
Clin Trials Volume: 10 Page(s): 568 - 586
08/01/2013 Authors: EPGP Collaborative; Abou-Khalil B; Alldredge B; Bautista J; Berkovic S; Bluvstein J; Boro A; Cascino G; Consalvo D; Cristofaro S
Modifiers of ovarian function in girls and women with classic galactosemia.
J Clin Endocrinol Metab Volume: 98 Page(s): E1257 - E1265
07/01/2013 Authors: Spencer JB; Badik JR; Ryan EL; Gleason TJ; Broadaway KA; Epstein MP; Fridovich-Keil JL
Assessing the impact of population stratification on association studies of rare variation.
Hum Hered Volume: 76 Page(s): 28 - 35
01/01/2013 Authors: Jiang Y; Epstein MP; Conneely KN
Bayesian approaches for mechanistic ion channel modeling.
Methods Mol Biol Volume: 1021 Page(s): 247 - 272
01/01/2013 Authors: Calderhead B; Epstein M; Sivilotti L; Girolami M
SNP set association analysis for familial data.
Genet Epidemiol Volume: 36 Page(s): 797 - 810
12/01/2012 Authors: Schifano ED; Epstein MP; Bielak LF; Jhun MA; Kardia SLR; Peyser PA; Lin X
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.
Bioinformatics Volume: 28 Page(s): 2747 - 2754
11/01/2012 Authors: Plagnol V; Curtis J; Epstein M; Mok KY; Stebbings E; Grigoriadou S; Wood NW; Hambleton S; Burns SO; Thrasher AJ
A permutation procedure to correct for confounders in case-control studies, including tests of rare variation.
Am J Hum Genet Volume: 91 Page(s): 215 - 223
08/10/2012 Authors: Epstein MP; Duncan R; Jiang Y; Conneely KN; Allen AS; Satten GA
Epi4K: Gene discovery in 4,000 genomes
EPILEPSIA Volume: 53 Page(s): 1457 - 1467
08/01/2012 Authors: Berkovic S; Cossette P; Delanty N; Dlugos D; Eichler E; Epstein M; Glauser T; Goldstein D; Heinzen E; Johnson MR
Depression and anxiety symptoms among women who carry the FMR1 premutation: impact of raising a child with fragile X syndrome is moderated by CRHR1 polymorphisms.
Am J Med Genet B Neuropsychiatr Genet Volume: 159B Page(s): 549 - 559
07/01/2012 Authors: Hunter JE; Leslie M; Novak G; Hamilton D; Shubeck L; Charen K; Abramowitz A; Epstein MP; Lori A; Binder E
Association of a polymorphism in the indoleamine- 2,3-dioxygenase gene and interferon--induced depression in patients with chronic hepatitis C.
Mol Psychiatry Volume: 17 Page(s): 781 - 789
07/01/2012 Authors: Smith AK; Simon JS; Gustafson EL; Noviello S; Cubells JF; Epstein MP; Devlin DJ; Qiu P; Albrecht JK; Brass CA
Families or Unrelated: The Evolving Debate in Genetic Association Studies.
J Biom Biostat Volume: 3 Page(s): e108
06/01/2012 Authors: Fardo DW; Charnigo R; Epstein MP
The FMR1 premutation and attention-deficit hyperactivity disorder (ADHD): evidence for a complex inheritance.
Behav Genet Volume: 42 Page(s): 415 - 422
05/01/2012 Authors: Hunter JE; Epstein MP; Tinker SW; Abramowitz A; Sherman SL
Sparse principal component analysis for identifying ancestry-informative markers in genome-wide association studies.
Genet Epidemiol Volume: 36 Page(s): 293 - 302
05/01/2012 Authors: Lee S; Epstein MP; Duncan R; Lin X
Stratification-score matching improves correction for confounding by population stratification in case-control association studies.
Genet Epidemiol Volume: 36 Page(s): 195 - 205
04/01/2012 Authors: Epstein MP; Duncan R; Broadaway KA; He M; Allen AS; Satten GA
Adjusting Rare Variant Association Tests for Population Stratification Using the Stratification Score
Volume: 36 Page(s): 149 - 149
02/01/2012 Authors: Satten GA; Ling B; Epstein MP; Allen AS
A Novel Permutation Strategy to Correct for Population Stratification in Case-Control Studies of Rare Variation
Volume: 36 Page(s): 124 - 124
02/01/2012 Authors: Epstein MP; Jiang Y; Conneely KN; Duncan R; Allen AS; Satten GA
Ovarian function in Duarte galactosemia.
Fertil Steril Volume: 96 Page(s): 469 - 473.e1
08/01/2011 Authors: Badik JR; Castaeda U; Gleason TJ; Spencer JB; Epstein MP; Ficicioglu C; Fitzgerald K; Fridovich-Keil JL
Stratification-Score-Based Matching Outperforms Other Matching Approaches when Controlling for Confounding
Volume: 34 Page(s): 946 - 946
12/01/2010 Authors: Satten GA; Epstein MP; Duncan R; Broadaway A; Allen AS
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome.
Genet Epidemiol Volume: 34 Page(s): 613 - 623
09/01/2010 Authors: Locke AE; Dooley KJ; Tinker SW; Cheong SY; Feingold E; Allen EG; Freeman SB; Torfs CP; Cua CL; Epstein MP
Heritability of acoustic startle magnitude, prepulse inhibition, and startle latency in schizophrenia and control families.
Psychiatry Res Volume: 178 Page(s): 236 - 243
07/30/2010 Authors: Hasenkamp W; Epstein MP; Green A; Wilcox L; Boshoven W; Lewison B; Duncan E
Score-based adjustment for confounding by population stratification in genetic association studies.
Genet Epidemiol Volume: 34 Page(s): 383 - 385
07/01/2010 Authors: Allen A; Epstein MP; Satten GA
Powerful SNP-set analysis for case-control genome-wide association studies.
Am J Hum Genet Volume: 86 Page(s): 929 - 942
06/11/2010 Authors: Wu MC; Kraft P; Epstein MP; Taylor DM; Chanock SJ; Hunter DJ; Lin X
Associations of progesterone receptor polymorphisms with age at menarche and menstrual cycle length.
Horm Res Paediatr Volume: 74 Page(s): 421 - 427
01/01/2010 Authors: Taylor KC; Small CM; Epstein MP; Sherman SL; Tang W; Wilson MM; Bouzyk M; Marcus M
Fast and robust association tests for untyped SNPs in case-control studies.
Hum Hered Volume: 70 Page(s): 167 - 176
01/01/2010 Authors: Allen AS; Satten GA; Bray SL; Dudbridge F; Epstein MP
Haplotype Association Analysis
HANDBOOK ON ANALYZING HUMAN GENETIC DATA Page(s): 241 - 276
01/01/2010 Authors: Epstein MP; Kwee LC
A Variance-Component Framework for Pedigree Analysis of Continuous and Categorical Outcomes.
Stat Biosci Volume: 1 Page(s): 181 - 198
11/01/2009 Authors: Epstein MP; Hunter JE; Allen EG; Sherman SL; Lin X; Boehnke M
Measures of ovarian function in galactosemia.
Fertil Steril Volume: 92 Page(s): e30
08/01/2009 Authors: Fridovich-Keil JL; Sanders RD; Spencer JB; Epstein MP; Lustbader JW; Vardhana PA
Biomarkers of ovarian function in girls and women with classic galactosemia.
Fertil Steril Volume: 92 Page(s): 344 - 351
07/01/2009 Authors: Sanders RD; Spencer JB; Epstein MP; Pollak SV; Vardhana PA; Lustbader JW; Fridovich-Keil JL
GENETIC VARIATION IN THE PROGESTERONE RECEPTOR AND AGE AT MENARCHE
Volume: 169 Page(s): S6 - S6
06/01/2009 Authors: Taylor KC; Small CM; Epstein MP; Sherman SL; Tang W; Wilson MM; Bouzyk M; Marcus M
Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice.
Hum Mol Genet Volume: 18 Page(s): 1633 - 1641
05/01/2009 Authors: Papale LA; Beyer B; Jones JM; Sharkey LM; Tufik S; Epstein M; Letts VA; Meisler MH; Frankel WN; Escayg A
AsktheGeneticist: five years of online experience.
Genet Med Volume: 11 Page(s): 294 - 304
04/01/2009 Authors: Tesla C; Korf BR; Holt L; Prucka S; Robin NH; Descartes M; Lose E; Stembridge A; Epstein M; Warren S
Corrigendum to "Behavioral responses of dopamine -hydroxylase knockout mice to modafinil suggest a dual noradrenergic-dopaminergic mechanism of action" (DOI:10.1016/j.pbb.2008.07.014)
Pharmacology Biochemistry and Behavior Volume: 92 Page(s): 197
03/01/2009 Authors: Mitchell HA; Bogenpohl JW; Liles LC; Epstein MP; Bozyczko-Coyne D; Williams M; Weinshenker D
HERITABILITY OF ACOUSTIC STARTLE, PREPULSE INHIBITION AND ONSET LATENCY IN SCHIZOPHRENIA AND CONTROL FAMILIES
Volume: 35 Page(s): 58 - 58
03/01/2009 Authors: Duncan EJ; Hasenkamp W; Epstein MP; Green A; Wilcox L; Boshoven W; Lewison B
The unfavorable effect of the A allele of the vitamin D receptor promoter polymorphism A-1012G has different mechanisms related to susceptibility and outcome of malignant melanoma.
Dermatoendocrinol Volume: 1 Page(s): 54 - 57
01/01/2009 Authors: Halsall JA; Osborne JE; Epstein MP; Pringle JH; Hutchinson PE
Behavioral responses of dopamine beta-hydroxylase knockout mice to modafinil suggest a dual noradrenergic-dopaminergic mechanism of action.
Pharmacol Biochem Behav Volume: 91 Page(s): 217 - 222
12/01/2008 Authors: Mitchell HA; Bogenpohl JW; Liles LC; Epstein MP; Bozyczko-Coyne D; Williams M; Weinshenker D
Fast and Robust Tests of Association for Untyped SNPs in Case-Control Studies
Volume: 32 Page(s): 674 - 674
11/01/2008 Authors: Epstein MP; Allen AS; Griffiths S; Dudbridge E; Satten GA
Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity.
Genet Epidemiol Volume: 32 Page(s): 553 - 559
09/01/2008 Authors: Hunter JE; Epstein MP; Tinker SW; Charen KH; Sherman SL
Genetic variability in inhibins and menstrual cycle characteristics
Volume: 167 Page(s): S23 - S23
06/01/2008 Authors: Taylor K; Small C; Dominguez C; Sherman S; Epstein M; Tang W; Wilson M; Bouzyk M; Marcus M
Prepulse inhibition and baseline startle are heritable in families of schizophrenia patients and healthy controls
Volume: 63 Page(s): 270S - 271S
04/01/2008 Authors: Hasenkamp W; Epstein M; Green A; Wilcox L; Boshoven W; Duncan E
Association of FKBP5 polymorphisms and childhood abuse with risk of posttraumatic stress disorder symptoms in adults.
JAMA Volume: 299 Page(s): 1291 - 1305
03/19/2008 Authors: Binder EB; Bradley RG; Liu W; Epstein MP; Deveau TC; Mercer KB; Tang Y; Gillespie CF; Heim CM; Nemeroff CB
Response to Lee etal.
American Journal of Human Genetics Volume: 82 Page(s): 526 - 528
02/08/2008 Authors: Epstein MP; Allen AS; Satten GA
Influence of child abuse on adult depression: moderation by the corticotropin-releasing hormone receptor gene.
Arch Gen Psychiatry Volume: 65 Page(s): 190 - 200
02/01/2008 Authors: Bradley RG; Binder EB; Epstein MP; Tang Y; Nair HP; Liu W; Gillespie CF; Berg T; Evces M; Newport DJ
A powerful and flexible multilocus association test for quantitative traits.
Am J Hum Genet Volume: 82 Page(s): 386 - 397
02/01/2008 Authors: Kwee LC; Liu D; Lin X; Ghosh D; Epstein MP
THE EPILEPSY PHENOME/GENOME PROJECT
Volume: 49 Page(s): 316 - 316
01/01/2008 Authors: Dlugos D; Knowlton R; Winawer M; Scherr E; Epstein M; Freyer C; Cristofaro S; Schardein K; Nesbit G; Williams M
Argonaute2 is essential for mammalian gastrulation and proper mesoderm formation.
PLoS Genet Volume: 3 Page(s): e227
12/28/2007 Authors: Alisch RS; Jin P; Epstein M; Caspary T; Warren ST
Gender differences in 542 Chinese inpatients with schizophrenia.
Schizophr Res Volume: 97 Page(s): 88 - 96
12/01/2007 Authors: Tang Y-L; Gillespie CF; Epstein MP; Mao P-X; Jiang F; Chen Q; Cai Z-J; Mitchell PB
Peginterferon alfa-2b and weight-based or flat-dose ribavirin in chronic hepatitis C patients: a randomized trial.
Hepatology Volume: 46 Page(s): 971 - 981
10/01/2007 Authors: Jacobson IM; Brown RS; Freilich B; Afdhal N; Kwo PY; Santoro J; Becker S; Wakil AE; Pound D; Godofsky E
Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors.
Proc Natl Acad Sci U S A Volume: 104 Page(s): 15537 - 15542
09/25/2007 Authors: Nakamoto M; Nalavadi V; Epstein MP; Narayanan U; Bassell GJ; Warren ST
Simple methods for high-density copy number variation data
Volume: 31 Page(s): 612 - 612
09/01/2007 Authors: Satten GA; Mulle JG; Allen AS; Epstein MP; Warren ST
A powerful multilocus association test for quantitative traits
Volume: 31 Page(s): 608 - 608
09/01/2007 Authors: Epstein MP; Kwee LC
Examination of reproductive aging milestones among women who carry the FMR1 premutation.
Hum Reprod Volume: 22 Page(s): 2142 - 2152
08/01/2007 Authors: Allen EG; Sullivan AK; Marcus M; Small C; Dominguez C; Epstein MP; Charen K; He W; Taylor KC; Sherman SL
Genotypic and haplotypic associations of the DBH gene with plasma dopamine beta-hydroxylase activity in African Americans.
Eur J Hum Genet Volume: 15 Page(s): 878 - 883
08/01/2007 Authors: Tang Y-L; Epstein MP; Anderson GM; Zabetian CP; Cubells JF
Simple correction for population stratification in case-control studies
Volume: 31 Page(s): 496 - 496
07/01/2007 Authors: Satten GA; Epstein MP; Allen AS
A simple and improved correction for population stratification in case-control studies.
Am J Hum Genet Volume: 80 Page(s): 921 - 930
05/01/2007 Authors: Epstein MP; Allen AS; Satten GA
Simple methods for assessing haplotype-environment interactions in case-only and case-control studies.
Genet Epidemiol Volume: 31 Page(s): 75 - 90
01/01/2007 Authors: Kwee LC; Epstein MP; Manatunga AK; Duncan R; Allen AS; Satten GA
Improved association analyses of disease subtypes in case-parent triads.
Genet Epidemiol Volume: 30 Page(s): 209 - 219
04/01/2006 Authors: Epstein MP; Waldman ID; Satten GA
Journal of the American Statistical Association: Comment
Journal of the American Statistical Association Volume: 101 Page(s): 104 - 118
03/01/2006 Authors: Sabatti C; Satten GA; Allen AS; Epstein MP; Chatterjee N; Spinka C; Chen J; Carroll RJ; Tzeng JY; Roeder K
Comment
Journal of the American Statistical Association Volume: 101 Page(s): 107 - 108
03/01/2006 Authors: Satten GA; Allen AS; Epstein MP
Epimerase-deficiency galactosemia is not a binary condition.
Am J Hum Genet Volume: 78 Page(s): 89 - 102
01/01/2006 Authors: Openo KK; Schulz JM; Vargas CA; Orton CS; Epstein MP; Schnur RE; Scaglia F; Berry GT; Gottesman GS; Ficicioglu C
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.
Am J Hum Genet Volume: 77 Page(s): 694 - 708
11/01/2005 Authors: Krafchak CM; Pawar H; Moroi SE; Sugar A; Lichter PR; Mackey DA; Mian S; Nairus T; Elner V; Schteingart MT
Simple retrospective approaches for detecting interaction effects in case-control studies
Volume: 29 Page(s): 259 - 260
11/01/2005 Authors: Kwee LC; Satten GA; Manatunga AK; Duncan R; Epstein MP
Improved association analyses of disease subtypes in case-parent triads
Volume: 29 Page(s): 246 - 246
11/01/2005 Authors: Epstein MP; Waldman ID; Satten GA
Genetic association analysis using data from triads and unrelated subjects.
Am J Hum Genet Volume: 76 Page(s): 592 - 608
04/01/2005 Authors: Epstein MP; Veal CD; Trembath RC; Barker JNWN; Li C; Satten GA
Association of FMR1 repeat size with ovarian dysfunction.
Hum Reprod Volume: 20 Page(s): 402 - 412
02/01/2005 Authors: Sullivan AK; Marcus M; Epstein MP; Allen EG; Anido AE; Paquin JJ; Yadav-Shah M; Sherman SL
A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10.
Am J Med Genet A Volume: 130A Page(s): 372 - 377
11/01/2004 Authors: Shimizu S; Krafchak C; Fuse N; Epstein MP; Schteingart MT; Sugar A; Eibschitz-Tsimhoni M; Downs CA; Rozsa F; Trager EH
Comparison of prospective and retrospective methods for haplotype inference in case-control studies.
Genet Epidemiol Volume: 27 Page(s): 192 - 201
11/01/2004 Authors: Satten GA; Epstein MP
A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14.
Diabetes Volume: 53 Page(s): 821 - 829
03/01/2004 Authors: Silander K; Scott LJ; Valle TT; Mohlke KL; Stringham HM; Wiles KR; Duren WL; Doheny KF; Pugh EW; Chines P
Inference on haplotype effects in case-control studies using unphased genotype data.
Am J Hum Genet Volume: 73 Page(s): 1316 - 1329
12/01/2003 Authors: Epstein MP; Satten GA
Prospective and retrospective variance-component linkage methods for complex trait data
Volume: 73 Page(s): 606 - 606
11/01/2003 Authors: Epstein MP; Lin X; Boehnke M
Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy.
Am J Ophthalmol Volume: 135 Page(s): 461 - 470
04/01/2003 Authors: Moroi SE; Gokhale PA; Schteingart MT; Sugar A; Downs CA; Shimizu S; Krafchak C; Fuse N; Elner SG; Elner VM
A tobit variance-component method for linkage analysis of censored trait data.
Am J Hum Genet Volume: 72 Page(s): 611 - 620
03/01/2003 Authors: Epstein MP; Lin X; Boehnke M
A tobit variance-component method for analyzing truncated trait data.
Volume: 71 Page(s): 452 - 452
10/01/2002 Authors: Epstein MP; Lin X; Boehnke M
Ascertainment-adjusted parameter estimates revisited.
Am J Hum Genet Volume: 70 Page(s): 886 - 895
04/01/2002 Authors: Epstein MP; Lin X; Boehnke M
Variance-component linkage methods for non-normally distributed trait data.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 69 Page(s): 228 - 228
10/01/2001 Authors: Epstein MP; Lin X; Boehnke M
Improved inference of relationship for pairs of individuals.
Am J Hum Genet Volume: 67 Page(s): 1219 - 1231
11/01/2000 Authors: Epstein MP; Duren WL; Boehnke M
The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. II. An autosomal genome scan for diabetes-related quantitative-trait loci.
Am J Hum Genet Volume: 67 Page(s): 1186 - 1200
11/01/2000 Authors: Watanabe RM; Ghosh S; Langefeld CD; Valle TT; Hauser ER; Magnuson VL; Mohlke KL; Silander K; Ally DS; Chines P
The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. I. An autosomal genome scan for genes that predispose to type 2 diabetes.
Am J Hum Genet Volume: 67 Page(s): 1174 - 1185
11/01/2000 Authors: Ghosh S; Watanabe RM; Valle TT; Hauser ER; Magnuson VL; Langefeld CD; Ally DS; Mohlke KL; Silander K; Kohtamki K
Improved relationship inference for pairs of individuals.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 67 Page(s): 308 - 308
10/01/2000 Authors: Epstein MP; Duren WL; Boehnke M
Improved identification of most probable relationships in relative pairs.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 65 Page(s): A248 - A248
10/01/1999 Authors: Epstein MP; Duren WL; Boehnke M
Genome-wide linkage analysis of type 2 diabetes-related quantitative traits in the FUSION study
DIABETES Volume: 48 Page(s): A46 - A46
01/01/1999 Authors: Watanabe RM; Langefeld CD; Epstein M; Valle T; Ghosh S; Collis FS; Boehnke M
Effects of topical ethacrynic acid adducts on intraocular pressure in rabbits and monkeys.
Arch Ophthalmol Volume: 110 Page(s): 699 - 702
05/01/1992 Authors: Tingey DP; Schroeder A; Epstein MP; Epstein DL
Thiol adducts of ethacrynic acid increase outflow facility in enucleated calf eyes.
Curr Eye Res Volume: 11 Page(s): 253 - 258
03/01/1992 Authors: Epstein DL; Hooshmand LB; Epstein MP
ON THE THEORY OF PICARD-VESSIOT EXTENSIONS
ANNALS OF MATHEMATICS Volume: 62 Page(s): 528 - 547
01/01/1955 Authors: EPSTEIN MP
ON THE THEORY OF PICARD-VESSIOT EXTENSIONS
Volume: 60 Page(s): 77 - 77
01/01/1954 Authors: EPSTEIN MP
Metabolic effects of the schizophrenia-associated 3q29 deletion
Translational Psychiatry Volume: 12
Authors: Pollak RM; Purcell RH; Rutkowski TP; Malone T; Pachura KJ; Bassell GJ; Epstein MP; Dawson PA; Smith MR; Jones DP

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