M. Epstein

D. Stein, H. Zar, M. Epstein, 2020, The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry.

Brain DNA Methylation Patterns in CLDN5 Associated With Cognitive Decline

A. Wingo, D. Bennett, M. Epstein, 2019, Biological Psychiatry.

Powerful and robust cross‐phenotype association test for case‐parent trios

M. Epstein, K. Conneely, K. A. Broadaway, 2018, Genetic epidemiology.

Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

Michael R. Johnson, I. Scheffer, H. Mefford, 2017 .

Rare variants in MYH15 modify amyotrophic lateral sclerosis risk.

M. Epstein, P. Jin, J. Glass, 2019, Human molecular genetics.

Title : Powerful Genetic Association Analysis for Common or Rare Variants with High Dimensional Structured Traits Running Title : DKAT for Genetic Association Studies

M. Epstein, K. Conneely, T. Thornton, 2017 .

Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.

T. Beaty, D. Cutler, M. Epstein, 2020, American journal of human genetics.

OTTERS: A powerful TWAS framework leveraging summary-level reference data

T. Lehtimäki, Hongyu Zhao, A. Battle, 2022, bioRxiv.

Full article title: Neuropsychiatric Phenotypes in 3q29 Deletion Syndrome and Novel Features of ASD: Results from the 3q29 Registry

M. Epstein, M. Zwick, C. Saulnier, 2018, bioRxiv.

Full article title: Neuropsychiatric Phenotypes in 3q29 Deletion Syndrome and Novel Features of ASD: Results from the 3q29 Registry

M. Epstein, M. Zwick, C. Saulnier, 2018, bioRxiv.

Association between DNA methylation levels in brain tissue and late-life depression in community-based participants

A. Wingo, D. Bennett, M. Epstein, 2020, Translational Psychiatry.

Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia

M. Epstein, M. E. Lynch, J. Fridovich-Keil, 2013, Journal of Inherited Metabolic Disease.

Modifiers of ovarian function in girls and women with classic galactosemia.

M. Epstein, J. Fridovich-Keil, K. A. Broadaway, 2013, The Journal of clinical endocrinology and metabolism.

Biomarkers of ovarian function in girls and women with classic galactosemia.

M. Epstein, J. Fridovich-Keil, J. Lustbader, 2009, Fertility and sterility.

The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence

Colin A. Ellis, M. Epstein, S. Berkovic, 2019, Annals of neurology.

Phenotypic Characterization of Juvenile Idiopathic Arthritis in African American Children

M. Epstein, K. Conneely, S. Prahalad, 2016, The Journal of Rheumatology.

Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors

Colin A. Ellis, M. Epstein, S. Berkovic, 2020, Epilepsia.

Fast and Robust Association Tests for Untyped SNPs in Case-Control Studies

G. Satten, A. Allen, M. Epstein, 2010, Human Heredity.

Examination of reproductive aging milestones among women who carry the FMR1 premutation.

M. Epstein, S. Sherman, K. Charen, 2007, Human reproduction.

Association of a Polymorphism in the Indoleamine-2,3-Dioxygenase Gene and Interferon-α-Induced Depression in Patients with Chronic Hepatitis C

M. Epstein, J. Albrecht, P. Qiu, 2011, Molecular Psychiatry.

Association of FKBP5 polymorphisms and childhood abuse with risk of posttraumatic stress disorder symptoms in adults.

K. Ressler, M. Epstein, C. Nemeroff, 2008, JAMA.

Improved association analyses of disease subtypes in case‐parent triads

G. Satten, M. Epstein, I. Waldman, 2006, Genetic epidemiology.

OTTERS: A powerful TWAS framework leveraging summary-level reference data

T. Lehtimäki, Hongyu Zhao, A. Battle, 2022, bioRxiv.

The FMR1 Premutation and Attention-Deficit Hyperactivity Disorder (ADHD): Evidence for a Complex Inheritance

M. Epstein, J. Hunter, S. Sherman, 2012, Behavior genetics.

Robust Rare-Variant Association Tests for Quantitative Traits in General Pedigrees

M. Epstein, K. Conneely, Yunxuan Jiang, 2017, Statistics in Biosciences.

Links Between the Sequence Kernel Association and the Kernel-Based Adaptive Cluster Tests

M. Epstein, T. Fingerlin, Weiming Zhang, 2017, Statistics in Biosciences.

An Adaptive Genetic Association Test Using Double Kernel Machines

M. Epstein, Xiang Zhan, Debashis Ghosh, 2014, Statistics in Biosciences.

Brain proteome-wide association study implicates novel proteins in depression pathogenesis

Benjamin A. Logsdon, A. Wingo, K. Ressler, 2021, Nature Neuroscience.

TIGAR: An Improved Bayesian Tool for Transcriptomic Data Imputation Enhances Gene Mapping of Complex Traits

Jingjing Yang, David A. Bennett, Greg Gibson, 2018, bioRxiv.

Genotypic and haplotypic associations of the DBH gene with plasma dopamine β-hydroxylase activity in African Americans

M. Epstein, Yi-lang Tang, G. Anderson, 2007, European Journal of Human Genetics.

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

Michael R. Johnson, I. Scheffer, H. Mefford, 2017, The Lancet Neurology.

A tobit variance-component method for linkage analysis of censored trait data.

Michael P Epstein, Michael Boehnke, Xihong Lin, 2003, American journal of human genetics.

Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy.

M. Boehnke, M. Epstein, S. Moroi, 2003, American journal of ophthalmology.

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.

M. Boehnke, M. Epstein, D. Mackey, 2005, American journal of human genetics.

A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10

Michael P Epstein, Michael Boehnke, Alan Sugar, 2004, American journal of medical genetics. Part A.

Norepinephrine regulates cocaine-primed reinstatement via α1-adrenergic receptors in the medial prefrontal cortex

Karl T. Schmidt, M. Epstein, D. Weinshenker, 2017, Neuropharmacology.

A Kernel Method for Dissecting Genetic Signals in Tests of High-Dimensional Phenotypes

Claudia R. Solís-Lemus, D. Ghosh, B. Bradley, 2021, bioRxiv.

Powerful Genetic Association Analysis for Common or Rare Variants with High-Dimensional Structured Traits

Xiang Zhan, Michael P Epstein, Michael C Wu, 2017, Genetics.

Robust Rare-Variant Association Tests for Quantitative Traits in General Pedigrees

M. Epstein, K. Conneely, Yunxuan Jiang, 2017, Statistics in Biosciences.

Integrating human brain proteomes with genome-wide association data implicates new proteins in Alzheimer’s disease pathogenesis

Benjamin A. Logsdon, A. Wingo, D. Bennett, 2021, Nature Genetics.

TIGAR-V2: Efficient TWAS tool with nonparametric Bayesian eQTL weights of 49 tissue types from GTEx V8

G. Gibson, M. Epstein, Jingjing Yang, 2021, bioRxiv.

Links Between the Sequence Kernel Association and the Kernel-Based Adaptive Cluster Tests

Debashis Ghosh, Michael P. Epstein, Tasha E. Fingerlin, 2017 .

Metabolic effects of the schizophrenia-associated 3q29 deletion

Dean P. Jones, M. Epstein, S. Warren, 2020, bioRxiv.

Behavioral changes and growth deficits in a CRISPR engineered mouse model of the schizophrenia-associated 3q29 deletion

M. Epstein, S. Warren, G. Gafford, 2018, bioRxiv.

Phenotypes in 3 q 29 Deletion Syndrome and Novel Features of ASD : Results from the 3 q 29 Registry

M. Epstein, M. Zwick, C. Saulnier, 2018 .

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Alex V. Kotlar, Sunny X. Tang, E. Zackai, 2020, Molecular Psychiatry.

Ovarian function in Duarte galactosemia.

M. Epstein, J. Fridovich-Keil, C. Ficicioglu, 2011, Fertility and sterility.

Gastrointestinal Health in Classic Galactosemia.

M. Epstein, J. Fridovich-Keil, J. Mulle, 2016, JIMD reports.

Developmental Outcomes in Duarte Galactosemia

M. Epstein, C. Coles, M. E. Lynch, 2019, Pediatrics.

Epimerase-deficiency galactosemia is not a binary condition.

M. Epstein, J. Fridovich-Keil, F. Scaglia, 2006, American journal of human genetics.

Coding de novo mutations identified by WGS reveal novel orofacial cleft genes

T. Beaty, D. Cutler, M. Epstein, 2020, bioRxiv.

A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14.

Chun Li, Kaisa Silander, Soumitra Ghosh, 2004, Diabetes.

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.

H M Stringham, M P Epstein, C Li, 2000, American journal of human genetics.

Associations of Progesterone Receptor Polymorphisms with Age at Menarche and Menstrual Cycle Length

M. Epstein, M. Bouzyk, M. Bouzyk, 2010, Hormone Research in Paediatrics.

Testing in Microbiome-Profiling Studies with MiRKAT, the Microbiome Regression-Based Kernel Association Test.

Hongzhe Li, Michael P Epstein, Michael C Wu, 2015, American journal of human genetics.

Association of FMR1 repeat size with ovarian dysfunction.

M. Epstein, S. Sherman, E. Allen, 2005, Human reproduction.

Diverse genetic causes of polymicrogyria with epilepsy

I. Scheffer, H. Mefford, E. Eichler, 2021, Epilepsia.

Utilizing population controls in rare-variant case-parent association tests.

Yujun Han, Michael P Epstein, Glen A Satten, 2014, American journal of human genetics.

A permutation procedure to correct for confounders in case-control studies, including tests of rare variation.

Michael P. Epstein, Andrew S. Allen, Karen N. Conneely, 2012, American journal of human genetics.

PEMapper / PECaller: A simplified approach to whole-genome sequencing

Jennifer Mulle, Michael E Zwick, Michael P Epstein, 2016, bioRxiv.

Kernel machine methods for integrative analysis of genome‐wide methylation and genotyping studies

Xiang Zhan, Yen-Tsung Huang, Michael P Epstein, 2018, Genetic epidemiology.

Testing cross‐phenotype effects of rare variants in longitudinal studies of complex traits

Debashis Ghosh, Pratyaydipta Rudra, K Alaine Broadaway, 2018, Genetic epidemiology.

Efficient Estimation of Indirect Effects in Case-Control Studies Using a Unified Likelihood Framework

Claudia R. Solís-Lemus, G. Satten, M. Epstein, 2021, bioRxiv.

Assessing the Impact of Population Stratification on Association Studies of Rare Variation

Michael P. Epstein, Karen N. Conneely, Yunxuan Jiang, 2013, Human Heredity.

Comparison of prospective and retrospective methods for haplotype inference in case‐control studies

G. Satten, M. Epstein, 2004, Genetic epidemiology.

Inference on haplotype effects in case-control studies using unphased genotype data.

G. Satten, M. Epstein, 2003, American journal of human genetics.

Influence of child abuse on adult depression: moderation by the corticotropin-releasing hormone receptor gene.

K. Ressler, M. Epstein, C. Nemeroff, 2008, Archives of general psychiatry.

Heritability of acoustic startle magnitude, prepulse inhibition, and startle latency in schizophrenia and control families

M. Epstein, W. Boshoven, Erica Duncan, 2010, Psychiatry Research.

Epilepsy in families: Age at onset is a familial trait, independent of syndrome

M. Epstein, S. Berkovic, S. Xie, 2019, Annals of neurology.

Kernel Approach for Modeling Interaction Effects in Genetic Association Studies of Complex Quantitative Traits

K Alaine Broadaway, Michael P Epstein, Lynn M Almli, 2015, Genetic epidemiology.

Genetic association analysis using data from triads and unrelated subjects.

Chun Li, Michael P Epstein, Richard C Trembath, 2005, American journal of human genetics.

SNP Set Association Analysis for Familial Data Running Title: SNP Set Analysis for Familial Data

Min A. Jhun, Xihong Lin, M. Epstein, 2012 .

Simple methods for assessing haplotype‐environment interactions in case‐only and case‐control studies

L C Kwee, M P Epstein, A K Manatunga, 2007, Genetic epidemiology.

A statistical approach for rare-variant association testing in affected sibships.

Min A. Jhun, G. Satten, M. Epstein, 2015, American journal of human genetics.

Correcting systematic inflation in genetic association tests that consider interaction effects: application to a genome-wide association study of posttraumatic stress disorder.

Debashis Ghosh, Michael P Epstein, Lynn M Almli, 2014, JAMA psychiatry.

Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome

A J Agopian, Cristina E. Trevino, D. Cutler, 2020, Scientific Reports.

Meta-analysis confirms association between TNFA-G238A variant and JIA, and between PTPN22-C1858T variant and oligoarticular, RF-polyarticular and RF-positive polyarticular JIA

Sampath Prahalad, K Alaine Broadaway, Michael P Epstein, 2013, Pediatric Rheumatology.

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

M. Epstein, J. Pringle, J. Halsall, 2009, Dermato-endocrinology.

Fragile X‐associated primary ovarian insufficiency: evidence for additional genetic contributions to severity

M. Epstein, J. Hunter, S. Sherman, 2008, Genetic epidemiology.

Score‐based adjustment for confounding by population stratification in genetic association studies

Michael P Epstein, Glen A Satten, Andrew Allen, 2010, Genetic epidemiology.

Stratification‐Score Matching Improves Correction for Confounding by Population Stratification in Case‐Control Association Studies

K Alaine Broadaway, Michael P Epstein, Richard Duncan, 2012, Genetic epidemiology.

Behavioral responses of dopamine β-hydroxylase knockout mice to modafinil suggest a dual noradrenergic–dopaminergic mechanism of action

Heather A. Mitchell, M. Epstein, D. Bozyczko‐Coyne, 2008, Pharmacology Biochemistry and Behavior.

Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies

I. Scheffer, H. Mefford, D. Goldstein, 2019, Epilepsia.

SR-TWAS: Leveraging Multiple Reference Panels to Improve TWAS Power by Ensemble Machine Learning

M. Epstein, Y. Wang, J. Xu, 2023, medRxiv.

Pruning and thresholding approach for methylation risk scores in multi-ancestry populations

H. Zar, M. Epstein, H. Zar, 2022, medRxiv.

Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation

Cristina E. Trevino, D. Cutler, M. Epstein, 2021, Fertility and sterility.

A Variance-Component Framework for Pedigree Analysis of Continuous and Categorical Outcomes

Xihong Lin, M. Boehnke, M. Epstein, 2009, Statistics in biosciences.

Journal of the American Statistical Association: Comment

K. Roeder, C. Sabatti, R. Carroll, 2006 .

Families or Unrelated: The Evolving Debate in Genetic Association Studies

Richard Charnigo, Michael P. Epstein, David W. Fardo, 2012, Journal of biometrics & biostatistics.

An Adaptive Genetic Association Test Using Double Kernel Machines

Xiang Zhan, Debashis Ghosh, Michael P Epstein, 2015, Statistics in biosciences.

De novo mutations in the classic epileptic encephalopathies

Michael R. Johnson, I. Scheffer, H. Mefford, 2013, Nature.

Sparse Principal Component Analysis for Identifying Ancestry‐Informative Markers in Genome‐Wide Association Studies

Xihong Lin, M. Epstein, Seokho Lee, 2012, Genetic epidemiology.

Response to Lee et al.

Michael P. Epstein, Andrew S. Allen, Glen A. Satten, 2008 .

Full article title: Neuropsychiatric Phenotypes in 3q29 Deletion Syndrome and Novel Features of ASD: Results from the 3q29 Registry

M. Epstein, M. Zwick, C. Saulnier, 2018, bioRxiv.

Heritability of acoustic startle magnitude, prepulse inhibition, and startle latency in schizophrenia and control families

M. Epstein, W. Boshoven, Erica Duncan, 2010, Psychiatry Research.

Gastrointestinal Health in Classic Galactosemia.

M. Epstein, J. Fridovich-Keil, J. Mulle, 2016, JIMD Reports.

A statistical approach for rare-variant association testing in affected sibships.

Min A. Jhun, G. Satten, M. Epstein, 2015, American journal of human genetics.

Retrospective haplotype clustering methods for detecting haplotypes effects and haplotype-environment interactions

G. Satten, M. Epstein, J. Kao, 2008 .

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

Michael R. Johnson, G. Carvill, I. Scheffer, 2016, American journal of human genetics.

TIGAR-V2: Efficient TWAS tool with nonparametric Bayesian eQTL weights of 49 tissue types from GTEx V8

G. Gibson, M. Epstein, Jingjing Yang, 2021, bioRxiv.

The FMR1 Premutation and Attention-Deficit Hyperactivity Disorder (ADHD): Evidence for a Complex Inheritance

M. Epstein, J. Hunter, S. Sherman, 2011, Behavior Genetics.

Newborn differential DNA methylation and subcortical brain volumes as early signs of severe neurodevelopmental delay in a South African Birth Cohort Study

Dan J Stein, D. Stein, H. Zar, 2020, The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry.

OTTERS: a powerful TWAS framework leveraging summary-level reference data

Sina A. Gharib, T. Lehtimäki, Hongyu Zhao, 2023, Nature Communications.

Case-control Association Study of Autoimmunity Associated Variants in PDCD1 and Juvenile Idiopathic Arthritis

M. Epstein, K. Conneely, S. Prahalad, 2017, Current rheumatology reviews.