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Catherine A. Schaefer, PhD

cathy.schaefer@kp.org

Kaiser Permanente Researcher Profiles

Catherine  Schaefer, PhD

Catherine Schaefer, PhD, joined the Division of Research in 1989. Dr. Schaefer’s primary research interests include the epidemiology of psychiatric and neurologic disorders, genetic epidemiology, and early antecedents of adult chronic disease, focusing especially on bipolar disorder, schizophrenia, and multiple sclerosis.

In collaboration with others at the Division of Research and scientists at UCSF, Dr. Schaefer began and heads the Research Program on Genes, Environment, and Health (RPGEH), a biobank that links biospecimens and genetic data with participant surveys and comprehensive electronic health records on a diverse cohort of 200,000 members of Kaiser Permanente in Northern California. The program serves as the foundation for the Kaiser Permanente Research Bank, which includes members from Kaiser Permanente regions across the country. The RPGEH is a resource for research on the genetic epidemiology and pharmacogenetics of many diseases and conditions.

Current Positions

  • Managing Director of Special Projects

Section Affiliations

Primary Research Interests

  • Epidemiology of psychiatric and neurologic disorders
  • Early antecedents of adult chronic disease
  • Genetic epidemiology

Related Websites

Studies

Clinically Actionable Pharmacogenetic Loci and Drug-Gene Combinations in the Multi-Ethnic KP Research Bank

This project will examine the new Kaiser Permanente Research Bank genomic data (N=300,000) on pharmacogenes, comparing results of genotyping with other sources of data, and to provide information about the prevalence of altered drug metabolization status in different ancestry groups, as well as data on the frequency of exposure to drug-gene combinations with potential clinical consequences of altered metabolization in the KP population. The results of this project will be useful to KP in considering the implications of pharmacogenetic testing, and also to researchers interested in using the data on pharmacogenes to better understand the health consequences of pharmacogenetic variation.

Investigator: Schaefer, Catherine

Funder: KP Research Bank

Statin Treatment and Incident Alzheimer’s Disease and Related Dementias in a Large, Multi-ethnic Health Plan

The study will assess the effects of statin treatment on risk of Alzheimer’s disease and related dementias, controlling for potential confounding and examining potential mediating factors among Kaiser Permanente Northern California members during the years 1996 to 2020. A second aim will examine the role of genetic factors in the association of statin treatment and dementia risk in a cohort of genotyped KPNC members.

Investigator: Schaefer, Catherine

Funder: National Institute on Aging

Genetics at an Extreme: An Efficient Genomic Study of Individuals with Clinically Severe Major Depression Receiving ECT

This
study brings together investigators from around the world to carry out a
genetics study of severe major depressive disorder (MDD) treated with
electroconvulsive therapy (ECT). The National Network of Depression Centers
and allied centers in the U.S. will carry out a genetics study that will
enroll 25,000 patients receiving ECT for severe MDD. The centers will also
carry out a genome-wide association study comparing these 25,000 cases with
50,000 non-depressed and tightly matched previously collected controls. They
will also carry out a genome-wide association study of response to ECT in the
10,000 patients with prospective follow-up data.  Analysis will consider changes in measures
of depression and cognitive function, test for genetic variances associated
with these responses, and examine prediction models.

Investigator: Schaefer, Catherine

Funder: National Institute of Mental Health

ICLIC-MS for Enhancing Outcomes Research and Clinical Care in Multiple Sclerosis

The goal of this project is 1) to collect longitudinal measures of cognitive function, quality of life, and physical disability on a multi-ethnic sample of 3,000 individuals with multiple sclerosis (MS), using a web-based interface, Clinical and Longitudinal Information Collection for MS (ICLIC-MS); 2) to use these data in conjunction with already-collected data on genetic and environmental factors that affect risk of MS to better understand factors that influence progression of MS; and 3) to develop a report to provide information to treating neurologists about changes in cognitive function, quality of life, and physical disability that can be used to inform treatment of MS.

Investigator: Schaefer, Catherine

Funder: National Institute of Nursing Research

The Bipolar Sequencing Consortium for Combined Analyses and Follow-Up

The International Bipolar Sequencing Consortium brings together whole-genome and exome sequence data from multiple case-control and family studies of bipolar disorder for the purpose of investigating the genetic architecture of this condition. Data from multiple institutions and studies will be combined and harmonized to examine associations of genetic variation with bipolar disorder. De-identified exome sequence data from 483 individuals with bipolar disorder and 483 matched controls will be provided from the Multi-Ethnic Genome-wide Association Study of Bipolar Disorder at Kaiser Permanente Northern California, which will participate in analyses of the harmonized dataset from all study sites.

Investigator: Schaefer, Catherine

Funder: National Institute of Mental Health

Cognitive Function and Physical Disability in White, Black and Hispanic MS Patients

Cognitive impairment, physical disability and progressive disease are common but understudied clinical outcomes that substantially impact quality of life for individuals with multiple sclerosis (MS). Systematic assessment of cognitive function, disability and progression is neither routinely performed, nor results captured electronically, for most MS patients undergoing medical care. To help address this gap, we have recently developed and validated a new guided, web-based interface (ICLIC-MS) for longitudinal data collection of MS-validated measures for these important outcomes and other symptoms. We will recruit and collect comprehensive data on cognitive function, physical disability and disease progression over three years from a multi-ethnic cohort of 600 individuals with confirmed MS or clinically isolated syndrome (CIS). The study will be nested in the Kaiser Permanente (KP) MS Research Program which is part of the KP Medical Care Program in the Northern California Region.

Investigator: Schaefer, Catherine

Funder: National Multiple Sclerosis Society

Replication of PheWAS for TRPV4 Variant in Kaiser Permanente GERA Cohort

We will use the RPGEH GERA cohort to investigate associations of genetic variation (SNP genotypes) with several related conditions, including congestive heart failure, chronic kidney disease, and possibly related phenotypes. Our first objective will be to replicate findings of association of a specific genetic variant with a number of phenotypes, including congestive heart failure, pulmonary edema, and kidney disease. We will utilize the same phenotype definitions as in the original analysis, based on algorithmic extraction of electronic medical record data. In parallel, we will pursue our second and third objectives, which focus on a more in-depth analysis of the role of genome-wide variation in congestive heart failure and kidney disease. This will involve the development of deep phenotypes for these conditions that utilize extensive characterization of these conditions using KPNC electronic records.

Investigator: Schaefer, Catherine

Funder: GlaxoSmithKline PLC

Genome-Wide Study of Hearing Impairment

More than 25% of individuals over age 65 and 50% of individuals over age 80 suffer from varying levels of age-related hearing impairment (AHRI), and adults are losing hearing at earlier ages than in the past. There is strong evidence that both genetic and environmental factors play a role in AHRI. This is a genome-wide association study that is orders of magnitude larger than previous studies in a cohort of 100,000 individuals nested in the Kaiser Research Program on Genes, Environment, and Health. This project provides an efficient and innovative opportunity to obtain a comprehensive understanding of how these genetic factors impact AHRI, which may help identify individuals at greater risk. Understanding the genetic factors will also lead to better understanding of the underlying biological mechanisms of AHRI, which may improve potential treatments.

Investigator: Schaefer, Catherine

Funder: University of California, San Francisco, Project Grant

BioBank Northern California – Regional

The KP Research Bank aims to recruit 280,000 members (200,000 in the general cohort, 30,000 in the cancer cohort, and 50,000 in the pregnancy cohort) total across all regions, to increase the overall Biobank collection to 500,000 (410,000 in the general cohort, 30,000 in the cancer cohort, and 60,000 in the pregnancy cohort). Members will be consented to provide a biospecimen and complete a survey. Regions will participate in the recruitment and other Research Bank-related efforts, including scientific, strategic and operational.

Investigator: Schaefer, Catherine

Funder: Kaiser Foundation Research Institute

Publications

Transcriptome-wide association study identifies novel candidate susceptibility genes for migraine

Authors: Meyers, Travis J;Yin, Jie;Herrera, Victor A;Pressman, Alice R;Hoffmann, Thomas J;Schaefer, Catherine;Avins, Andrew L;Choquet, Hélène

HGG Adv. 2023 Jul 13;4(3):100211. Epub 2023-06-09.

PubMed abstract

Rare and low-frequency coding genetic variants contribute to pediatric-onset multiple sclerosis

Authors: Horton, Mary K; Schaefer, Catherine; Barcellos, Lisa F; et al.

Mult Scler. 2023 Apr;29(4-5):505-511. Epub 2023-02-08.

PubMed abstract

A Cross-Trait, Mendelian Randomization Study to Investigate Whether Migraine Is a Risk Factor for Multiple Sclerosis

Authors: Horton, Mary K; Schaefer, Catherine A; Barcellos, Lisa F; et al.

Neurology. 2023 Mar 28;100(13):e1353-e1362. Epub 2023-01-11.

PubMed abstract

Polygenic risk score association with multiple sclerosis susceptibility and phenotype in Europeans

Authors: Shams, Hengameh; Schaefer, Catherine; Oksenberg, Jorge R; et al.

Brain. 2023 Feb 13;146(2):645-656.

PubMed abstract

Circulating insulin-like growth factors and risks of overall, aggressive and early-onset prostate cancer: a collaborative analysis of 20 prospective studies and Mendelian randomization analysis

Authors: Watts, Eleanor L; Schaefer, Catherine A; Van Den Eeden, Stephen K; Travis, Ruth C; et al.

Int J Epidemiol. 2023 Feb 08;52(1):71-86.

PubMed abstract

Modest effect of statins on fasting glucose in a longitudinal electronic health record based cohort

Authors: Haldar, Tanushree; Oni-Orisan, Akinyemi; Hoffmann, Thomas J; Schaefer, Catherine; Iribarren, Carlos; Krauss, Ronald M; Medina, Marisa W; Risch, Neil

Cardiovasc Diabetol. 2022 Jul 14;21(1):132. Epub 2022-07-14.

PubMed abstract

Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia

Authors: Palmer, Duncan S; Schaefer, Catherine; Scott, Laura; Neale, Benjamin M; et al.

Nat Genet. 2022 05;54(5):541-547. Epub 2022-04-11.

PubMed abstract

Case-control study of adverse childhood experiences and multiple sclerosis risk and clinical outcomes

Authors: Horton, Mary K; McCurdy, Shannon; Shao, Xiaorong; Bellesis, Kalliope; Chinn, Terrence; Schaefer, Catherine; Barcellos, Lisa F

PLoS One. 2022;17(1):e0262093. Epub 2022-01-13.

PubMed abstract

Hereditary Spherocytosis

Authors: Zamora, Edgar A.; Schaefer, Catherine A.

Treasure Island (FL): StatPearls Publishing; 2022.

PubMed abstract

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

Authors: Jia, Xiaoming; Schaefer, Catherine; Scott, Laura J; et al.

Mol Psychiatry. 2021 09;26(9):5239-5250. Epub 2021-01-22.

PubMed abstract

A validation study for remote testing of cognitive function in multiple sclerosis

Authors: Barcellos LF; Horton M; Shao X; Bellesis KH; Chinn T; Waubant E; Bakshi N; Marcus J; Benedict RH; Schaefer C

Mult Scler. 2021 04;27(5):795-798. Epub 2020-07-14.

PubMed abstract

A large-scale association study detects novel rare variants, risk genes, functional elements, and polygenic architecture of prostate cancer susceptibility

Authors: Emami, Nima C; Presti, Joseph; Habel, Laurel A; Sakoda, Lori C; Schaefer, Catherine; Van Den Eeden, Stephen K; Witte, John S; et al.

Cancer Res. 2021 04 01;81(7):1695-1703. Epub 2020-12-08.

PubMed abstract

The impact of adjusting for baseline in pharmacogenomic genome-wide association studies of quantitative change

Authors: Oni-Orisan A; Haldar T; Ranatunga DK; Medina MW; Schaefer C; Krauss RM; Iribarren C; Risch N; Hoffmann TJ

NPJ Genom Med. 2020 Jan 16;5(1):1. Epub 2020-01-16.

PubMed abstract

Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations

Authors: Jorgenson, Eric; Choquet, Hélène; Yin, Jie; Hoffmann, Thomas J; Banda, Yambazi; Kvale, Mark N; Risch, Neil; Schaefer, Catherine; Asgari, Maryam M

Commun Biol. 2020 12 14;3(1):765. Epub 2020-12-14.

PubMed abstract

Pregnancy does not modify the risk of MS in genetically susceptible women

Authors: Adams, Cameron J; Schaefer, Catherine; Barcellos, Lisa F; et al.

Neurol Neuroimmunol Neuroinflamm. 2020 11;7(6). Epub 2020-10-09.

PubMed abstract

Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk

Authors: Sieh, Weiva; Alexeeff, Stacey E; Sakoda, Lori C; Risch, Neil; Habel, Laurel A; et al.

Nat Commun. 2020 10 09;11(1):5116. Epub 2020-10-09.

PubMed abstract

Associations of CYP2C9 and CYP2C19 pharmacogenetic variation with phenytoin-induced cutaneous adverse drug reactions

Authors: Fohner AE; Rettie AE; Thai KK; Ranatunga DK; Lawson BL; Liu VX; Schaefer CA

Clin Transl Sci. 2020 09;13(5):1004-1009. Epub 2020-04-18.

PubMed abstract

Meta-analysis of 26,638 Individuals Identifies Two Genetic Loci Associated with Left Ventricular Ejection Fraction

Authors: Choquet H; Thai KK; Jiang C; Ranatunga DK; Hoffmann TJ; Go AS; Lindsay AC; Ehm MG; Waterworth DM; Risch N; Schaefer C

Circ Genom Precis Med. 2020 08;13(4):e002804. Epub 2020-06-30.

PubMed abstract

Analysis of putative cis-regulatory elements regulating blood pressure variation

Authors: Nandakumar P; Kwok PY; Risch N; Chakravarti A; Chakravarti A; et al.

Hum Mol Genet. 2020 07 21;29(11):1922-1932.

PubMed abstract

A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness

Authors: Choquet H; Schaefer C; Risch N; Jorgenson E; et al.

Commun Biol. 2020 06 11;3(1):301. Epub 2020-06-11.

PubMed abstract

Breastfeeding is associated with reduced risk of multiple sclerosis in males, predominantly among HLA-DRB1*15:01 carriers

Authors: Hedström AK; Adams C; Shao X; Schaefer C; Olsson T; Barcellos LF; Alfredsson L

Mult Scler J Exp Transl Clin. 2020 Apr-Jun;6(2):2055217320928101. Epub 2020-06-01.

PubMed abstract

The impact of adjusting for baseline in pharmacogenomic genome-wide association studies of quantitative change

Authors: Oni-Orisan A; Haldar T; Ranatunga DK; Medina MW; Schaefer C; Krauss RM; Iribarren C; Risch N; Hoffmann TJ

NPJ Genom Med. 2020;5:1. Epub 2020-01-16.

PubMed abstract

The associations of anthropometric, behavioural and sociodemographic factors with circulating concentrations of IGF-I, IGF-II, IGFBP-1, IGFBP-2, and IGFBP-3 in a pooled analysis of 16,024 men from 22 studies

Authors: Watts EL; Habel LA; Schaefer CA; Van Den Eeden SK; Travis RC; et al.

Int J Cancer. 2019 12 15;145(12):3244-3256. Epub 2019-04-04.

PubMed abstract

Maternal cortisol during pregnancy and offspring schizophrenia: Influence of fetal sex and timing of exposure

Authors: Ellman LM; Murphy SK; Maxwell SD; Calvo EM; Cooper T; Schaefer CA; Bresnahan MA; Susser ES; Brown AS

Schizophr Res. 2019 11;213:15-22. Epub 2019-07-22.

PubMed abstract

Assessing the clinical impact of CYP2C9 pharmacogenetic variation on phenytoin prescribing practice and patient response in an integrated health system

Authors: Fohner AE; Ranatunga DK; Thai KK; Lawson BL; Risch N; Oni-Orisan A; Jelalian AT; Rettie AE; Liu VX; Schaefer CA

Pharmacogenet Genomics. 2019 10;29(8):192-199.

PubMed abstract

Multiple Stakeholder Views on Data Sharing in a Biobank in an Integrated Healthcare Delivery System: Implications for Biobank Governance

Authors: Tai CG; Harris-Wai J; Schaefer C; Liljestrand P; Somkin CP

Public Health Genomics. 2019 Jun 05:1-10.

PubMed abstract

Telomere length and socioeconomic status at neighborhood and individual levels among 80,000 adults in the Genetic Epidemiology Research on Adult Health and Aging cohort

Authors: Alexeeff, Stacey E; Schaefer, Catherine A; Risch, Neil; Sakoda, Lori C; Quesenberry, Charles P; Van Den Eeden, Stephen K; et al.

Environ Epidemiol. 2019 Jun;3(3):e049. Epub 2019-05-01.

PubMed abstract

miRNA contributions to pediatric-onset multiple sclerosis inferred from GWAS

Authors: Rhead B; Schaefer C; Barcellos LF; US Network of Pediatric MS Centers; et al.

Ann Clin Transl Neurol. 2019 Jun;6(6):1053-1061. Epub 2019-05-15.

PubMed abstract

Genetic risk factors for pediatric-onset multiple sclerosis

Authors: Gianfrancesco MA; Schaefer C; Barcellos LF; Network of Pediatric Multiple Sclerosis Centers; et al.

Mult Scler. 2018 12;24(14):1825-1834. Epub 2017-10-05.

PubMed abstract

A Large Multi-ethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci

Authors: Hoffmann TJ; Choquet H; Yin J; Banda Y; Kvale MN; Glymour M; Schaefer C; Risch N; Jorgenson E

Genetics. 2018 10;210(2):499-515. Epub 2018-08-14.

PubMed abstract

Characterization of Statin Low-Density Lipoprotein Cholesterol Dose-Response Using Electronic Health Records in a Large Population-Based Cohort

Authors: Oni-Orisan A; Hoffmann TJ; Ranatunga D; Medina MW; Jorgenson E; Schaefer C; Krauss RM; Iribarren C; Risch N

Circ Genom Precis Med. 2018 Sep;11(9):e002043.

PubMed abstract

Incorporating machine learning approaches to assess putative environmental risk factors for multiple sclerosis

Authors: Mowry EM; Hedström AK; Gianfrancesco MA; Shao X; Schaefer CA; Shen L; Bellesis KH; Briggs FBS; Olsson T; Alfredsson L; Barcellos LF

Mult Scler Relat Disord. 2018 Aug;24:135-141. Epub 2018-06-23.

PubMed abstract

A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci

Authors: Choquet H; Schaefer C; Risch N; Jorgenson E; et al.

Nat Commun. 2018 06 11;9(1):2278. Epub 2018-06-11.

PubMed abstract

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

Authors: Wray NR; Schaefer C; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; et al.

Nat Genet. 2018 05;50(5):668-681. Epub 2018-04-26.

PubMed abstract

A large electronic-health-record-based genome-wide study of serum lipids

Authors: Hoffmann TJ; Schaefer C; Iribarren C; Risch N; et al.

Nat Genet. 2018 03;50(3):401-413. Epub 2018-03-05.

PubMed abstract

Remote assessment of verbal memory in MS patients using the California Verbal Learning Test

Authors: Barcellos LF; Bellesis KH; Shen L; Shao X; Chinn T; Frndak S; Drake A; Bakshi N; Marcus J; Schaefer C; Benedict RH

Mult Scler. 2018 03;24(3):354-357. Epub 2017-02-01.

PubMed abstract

A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure

Authors: Choquet H; Thai KK; Yin J; Hoffmann TJ; Kvale MN; Banda Y; Schaefer C; Risch N; Nair KS; Melles R; Jorgenson E

Nat Commun. 2017 Dec 13;8(1):2108. Epub 2017-12-13.

PubMed abstract

The interaction between smoking and HLA genes in multiple sclerosis: replication and refinement

Authors: Hedström AK; Schaefer CA; Alfredsson L; et al.

Eur J Epidemiol. 2017 Oct;32(10):909-919. Epub 2017-06-08.

PubMed abstract

Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study

Authors: Jorgenson E; Thai KK; Hoffmann TJ; Sakoda LC; Kvale MN; Banda Y; Schaefer C; Risch N; Mertens J; Weisner C; Choquet H

Mol Psychiatry. 2017 Sep;22(9):1359-1367. Epub 2017-05-09.

PubMed abstract

Maternal serum cytokine levels and risk of bipolar disorder

Authors: Cheslack-Postava K; Cremers S; Bao Y; Shen L; Schaefer CA; Brown AS

Brain Behav Immun. 2017 Jul;63:108-114. Epub 2016-07-29.

PubMed abstract

Evidence for a causal relationship between low vitamin D, high BMI, and pediatric-onset MS

Authors: Gianfrancesco MA; Barcellos LF; Waubant E; Network of Pediatric Multiple Sclerosis Centers; et al.

Neurology. 2017 Apr 25;88(17):1623-1629. Epub 2017-03-29.

PubMed abstract

Causal Effect of Genetic Variants Associated With Body Mass Index on Multiple Sclerosis Susceptibility

Authors: Gianfrancesco MA; Schaefer C; Barcellos LF; et al.

Am J Epidemiol. 2017 02 01;185(3):162-171.

PubMed abstract

Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer

Authors: Hoffmann TJ; Sakoda LC; Habel LA; Quesenberry CP; Schaefer C; Risch N; Van Den Eeden SK; Witte JS; et al.

Nat Commun. 2017 Jan 31;8:14248. Epub 2017-01-31.

PubMed abstract

Circulating sex hormones in relation to anthropometric, sociodemographic and behavioural factors in an international dataset of 12,300 men

Authors: Watts EL; Habel LA; Schaefer CA; Travis RC; et al.

PLoS ONE. 2017;12(12):e0187741. Epub 2017-12-27.

PubMed abstract

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation

Authors: Hoffmann TJ; Ehret GB; Nandakumar P; Ranatunga D; Schaefer C; Kwok PY; Iribarren C; Chakravarti A; Risch N

Nat Genet. 2017 Jan;49(1):54-64. Epub 2016-11-14.

PubMed abstract

The Kaiser Permanente Northern California research program on genes, environment, and health (RPGEH) pregnancy cohort: study design, methodology and baseline characteristics

Authors: Hedderson MM; Ferrara A; Avalos LA; Van den Eeden SK; Gunderson EP; Li DK; Schaefer C; Croen LA; et al.

BMC Pregnancy Childbirth. 2016 Nov 29;16(1):381. Epub 2016-11-29.

PubMed abstract

A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records

Authors: Hoffmann TJ; Keats BJ; Yoshikawa N; Schaefer C; Risch N; Lustig LR

PLoS Genet. 2016 Oct;12(10):e1006371. Epub 2016-10-20.

PubMed abstract

Mendelian randomization shows a causal effect of low vitamin D on multiple sclerosis risk

Authors: Rhead B; Schaefer C; Barcellos LF; et al.

Neurol Genet. 2016 Oct;2(5):e97. Epub 2016-09-13.

PubMed abstract

Maternal T. gondii, offspring bipolar disorder and neurocognition

Authors: Freedman D; Bao Y; Shen L; Schaefer CA; Brown AS

Psychiatry Res. 2016 Sep 30;243:382-9. Epub 2016-07-07.

PubMed abstract

The Association of Refractive Error with Glaucoma in a Multiethnic Population

Authors: Shen L; Melles RB; Metlapally R; Barcellos L; Schaefer C; Risch N; Herrinton LJ; Wildsoet C; Jorgenson E

Ophthalmology. 2015 Aug 7.

PubMed abstract

Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies

Authors: George MF; Schaefer C; Barcellos LF; et al.

Neurol Genet. 2016 Aug;2(4):e87. Epub 2016-08-04.

PubMed abstract

Common coding variants in the HLA-DQB1 region confer susceptibility to age-related macular degeneration

Authors: Jorgenson E; Melles RB; Hoffmann TJ; Jia X; Sakoda LC; Kvale MN; Banda Y; Schaefer C; Risch N; Shen L

Eur J Hum Genet. 2016 Jul;24(7):1049-55. Epub 2016-01-06.

PubMed abstract

High consumption of coffee is associated with decreased multiple sclerosis risk; results from two independent studies

Authors: Hedström AK; Mowry EM; Gianfrancesco MA; Shao X; Schaefer CA; Shen L; Olsson T; Barcellos LF; Alfredsson L

J Neurol Neurosurg Psychiatr. 2016 May;87(5):454-60. Epub 2016-03-03.

PubMed abstract

A meta-analysis of individual participant data reveals an association between circulating levels of IGF-I and prostate cancer risk

Authors: Travis RC; Hamdy FC; Schenk JM; Endogenous Hormones, Nutritional Biomarkers and Prostate Cancer Collaborative Group; et al.

Cancer Res. 2016 04 15;76(8):2288-300. Epub 2016-02-26.

PubMed abstract

Fetal exposure to maternal stress and risk for schizophrenia spectrum disorders among offspring: Differential influences of fetal sex

Authors: Fineberg AM; Ellman LM; Schaefer CA; Maxwell SD; Shen L; H Chaudhury N; Cook AL; Bresnahan MA; Susser ES; Brown AS

Psychiatry Res. 2016 Feb 28;236:91-7. Epub 2015-12-18.

PubMed abstract

Feasibility study for remote assessment of cognitive function in multiple sclerosis

Authors: George MF; Holingue CB; Briggs FB; Shao X; Bellesis KH; Whitmer RA; Schaefer C; Benedict RH; Barcellos LF

J Neurol Neuromedicine. 2016;1(8):10-18.

PubMed abstract

Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort

Authors: Banda Y; Croen LA; Iribarren C; Kushi LH; Quesenberry CP; Sakoda LC; Van Den Eeden SK; Whitmer RA; Schaefer C; Risch N; et al.

Genetics. 2015 Aug;200(4):1285-95. Epub 2015-06-19.

PubMed abstract

Automated Assay of Telomere Length Measurement and Informatics for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort

Authors: Lapham K; Croen LA; Iribarren C; Kushi LH; Quesenberry CP; Sakoda LC; Van Den Eeden SK; Whitmer RA; Risch N; Schaefer C; Blackburn EH; et al.

Genetics. 2015 Aug;200(4):1061-72. Epub 2015-06-19.

PubMed abstract

Genotyping Informatics and Quality Control for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort

Authors: Kvale MN; Croen LA; Iribarren C; Kushi LH; Quesenberry CP; Sakoda LC; Van Den Eeden SK; Whitmer RA; Schaefer C; Risch N; et al.

Genetics. 2015 Aug;200(4):1051-60. Epub 2015-06-19.

PubMed abstract

A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences

Authors: Hoffmann TJ; Van Den Eeden SK; Sakoda LC; Habel LA; Quesenberry CP; Schaefer C; Witte JS; et al.

Cancer Discov. 2015 Aug;5(8):878-91. Epub 2015-06-01.

PubMed abstract

Differences in the Genetic Susceptibility to Age-Related Macular Degeneration Clinical Subtypes

Authors: Shen L; Hoffmann TJ; Melles RB; Sakoda LC; Kvale MN; Banda Y; Schaefer C; Risch N; Jorgenson E

Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4290-9.

PubMed abstract

Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response

Authors: Wen CC; Yee SW; Liang X; Hoffmann TJ; Kvale MN; Banda Y; Jorgenson E; Schaefer C; Risch N; Giacomini KM

Clin Pharmacol Ther. 2015 May;97(5):518-25. Epub 2015-04-06.

PubMed abstract

Perinatal oxytocin increases the risk of offspring bipolar disorder and childhood cognitive impairment

Authors: Freedman D; Brown AS; Shen L; Schaefer CA

J Affect Disord. 2015 Mar 1;173:65-72. Epub 2014-11-08.

PubMed abstract

Imputation of the Rare HOXB13 G84E Mutation and Cancer Risk in a Large Population-Based Cohort

Authors: Hoffmann TJ; Sakoda LC; Habel LA; Asgari MM; Corley D; Kushi LH; Quesenberry CP; Schaefer C; Van Den Eeden SK; Risch N; Witte JS; et al.

PLoS Genet. 2015 Jan;11(1):e1004930. Epub 2015-01-28.

PubMed abstract

Interaction between passive smoking and two HLA genes with regard to multiple sclerosis risk

Authors: Hedström AK; Bomfim IL; Barcellos LF; Briggs F; Schaefer C; Kockum I; Olsson T; Alfredsson L

Int J Epidemiol. 2014 Dec;43(6):1791-8. Epub 2014-10-15.

PubMed abstract

Seroprevalence of Aquaporin-4-IgG in a Northern California Population Representative Cohort of Multiple Sclerosis

Authors: Pittock SJ; Lennon VA; Bakshi N; Shen L; McKeon A; Quach H; Briggs FB; Bernstein AL; Schaefer CA; Barcellos LF

JAMA Neurol. 2014 Nov;71(11):1433-6.

PubMed abstract

Estimating genotype error rates from high-coverage next-generation sequence data

Authors: Wall JD; Tang LF; Zerbe B; Kvale MN; Kwok PY; Schaefer C; Risch N

Genome Res. 2014 Nov;24(11):1734-9. Epub 2014-10-10.

PubMed abstract

Obesity during childhood and adolescence increases susceptibility to multiple sclerosis after accounting for established genetic and environmental risk factors

Authors: Gianfrancesco MA; Schaefer C; Barcellos LF; et al.

Obes Res Clin Pract. 2014 Sep-Oct;8(5):e435-47. Epub 2014-03-06.

PubMed abstract

Smoking and Risk of Multiple Sclerosis: Evidence of Modification by NAT1 Variants

Authors: Briggs FB; Schaefer C; Barcellos LF; et al.

Epidemiology. 2014 Jul;25(4):605-14.

PubMed abstract

Adverse socioeconomic position during the life course is associated with multiple sclerosis

Authors: Briggs FB; Acuña BS; Shen L; Bellesis KH; Ramsay PP; Quach H; Bernstein A; Schaefer C; Barcellos LF

J Epidemiol Community Health. 2014 Jul;68(7):622-9. Epub 2014-02-27.

PubMed abstract

Serological Documentation of Maternal Influenza Exposure and Bipolar Disorder in Adult Offspring

Authors: Canetta SE; Bao Y; Co MD; Ennis FA; Cruz J; Terajima M; Shen L; Kellendonk C; Schaefer CA; Brown AS

Am J Psychiatry. 2014 May 1;171(5):557-63.

PubMed abstract

Interaction between adolescent obesity and HLA risk genes in the etiology of multiple sclerosis

Authors: Hedström AK; Lima Bomfim I; Barcellos L; Gianfrancesco M; Schaefer C; Kockum I; Olsson T; Alfredsson L

Neurology. 2014 Mar 11;82(10):865-72. Epub 2014-02-05.

PubMed abstract

The effect of bariatric surgery on psychiatric course among patients with bipolar disorder

Authors: Ahmed AT; Warton EM; Schaefer CA; Shen L; McIntyre RS

Bipolar Disord. 2013 Nov;15(7):753-63. Epub 2013-08-05.

PubMed abstract

Fine-Mapping the Genetic Association of the Major Histocompatibility Complex in Multiple Sclerosis: HLA and Non-HLA Effects

Authors: Patsopoulos NA; Barcellos LF; Schaefer C; de Bakker PI; et al.

PLoS Genet. 2013 Nov;9(11):e1003926. Epub 2013-11-21.

PubMed abstract

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

Authors: International Multiple Sclerosis Genetics Consortium (IMSGC); Barcellos LF; Schaefer C; McCauley JL; et al.

Nat Genet. 2013 Nov;45(11):1353-60. Epub 2013-09-29.

PubMed abstract

Maternal smoking during pregnancy and bipolar disorder in offspring

Authors: Talati A; Bao Y; Kaufman J; Shen L; Schaefer CA; Brown AS

Am J Psychiatry. 2013 Oct 1;170(10):1178-85.

PubMed abstract

Parental age and risk of bipolar disorder in offspring

Authors: Brown A; Bao Y; McKeague I; Shen L; Schaefer C

Psychiatry Res. 2013 Aug 15;208(3):225-31. Epub 2013-06-19.

PubMed abstract

Gestational Influenza and Bipolar Disorder in Adult Offspring

Authors: Parboosing R; Bao Y; Shen L; Schaefer CA; Brown AS

JAMA Psychiatry. 2013 Jul;70(7):677-85.

PubMed abstract

Low maternal retinol as a risk factor for schizophrenia in adult offspring

Authors: Bao Y; Ibram G; Blaner WS; Quesenberry CP; Shen L; McKeague IW; Schaefer CA; Susser ES; Brown AS

Schizophr Res. 2012 May;137(1-3):159-65. Epub 2012 Feb 29.

PubMed abstract

Midlife vs Late-Life Depressive Symptoms and Risk of Dementia: Differential Effects for Alzheimer Disease and Vascular Dementia

Authors: Barnes DE; Yaffe K; Byers AL; McCormick M; Schaefer C; Whitmer RA

Arch Gen Psychiatry. 2012 May;69(5):493-8.

PubMed abstract

New Models for Large Prospective Studies: Is There a Better Way?

Authors: Manolio TA; Schaefer C; Collins FS; et al.

Am J Epidemiol. 2012 May 1;175(9):859-66. Epub 2012 Mar 12.

PubMed abstract

Design and coverage of high throughput genotyping arrays optimized for individuals of East Asian, African American, and Latino race/ethnicity using imputation and a novel hybrid SNP selection algorithm

Authors: Hoffmann TJ; Iribarren C; Quesenberry C; Van den Eeden SK; Whitmer RA; Schaefer C; Risch N; et al.

Genomics. 2011 Dec;98(6):422-30. Epub 2011 Aug 28.

PubMed abstract

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Authors: International Multiple Sclerosis Genetics Consortium; Barcellos LF; Schaefer CA; Compston A; et al.

Nature. 2011 Aug 10;476(7359):214-9.

PubMed abstract

Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array

Authors: Hoffmann TJ; Iribarren C; Quesenberry C; Van den Eeden SK; Whitmer RA; Schaefer C; Risch N; et al.

Genomics. 2011 Aug;98(2):79-89. Epub 2011 Apr 30.

PubMed abstract

Maternal serum docosahexaenoic acid and schizophrenia spectrum disorders in adult offspring

Authors: Harper KN; Hibbeln JR; Deckelbaum R; Quesenberry CP Jr; Schaefer CA; Brown AS

Schizophr Res. 2011 May;128(1-3):30-6. Epub 2011 Feb 15.

PubMed abstract

Executive Function in Preschool Children: Test-Retest Reliability

Authors: Beck DM; Schaefer C; Pang K; Carlson SM

J Cogn Dev. 2011 Jan 01;12(2):169-193.

PubMed abstract

Structural brain alterations in schizophrenia following fetal exposure to the inflammatory cytokine interleukin-8

Authors: Ellman LM; Deicken RF; Vinogradov S; Kremen WS; Poole JH; Kern DM; Tsai WY; Schaefer CA; Brown AS

Schizophr Res. 2010 Aug;121(1-3):46-54. Epub 2010 Jun 9.

PubMed abstract

Is pregnancy after breast cancer safe?

Authors: Kranick JA; Schaefer C; Rowell S; Desai M; Petrek JA; Hiatt RA; Senie RT

Breast J. 2010 Jul-Aug;16(4):404-11. Epub 2010 May 26.

PubMed abstract

Cognitive decline in schizophrenia from childhood to midlife: a 33-year longitudinal birth cohort study

Authors: Kremen WS; Vinogradov S; Poole JH; Schaefer CA; Deicken RF; Factor-Litvak P; Brown AS

Schizophr Res. 2010 May;118(1-3):1-5. Epub 2010 Feb 12.

PubMed abstract

Prenatal exposure to maternal infection and executive dysfunction in adult schizophrenia

Authors: Brown AS; Vinogradov S; Kremen WS; Poole JH; Deicken RF; Penner JD; McKeague IW; Kochetkova A; Kern D; Schaefer CA

Am J Psychiatry. 2009 Jun;166(6):683-90. Epub 2009 Apr 15.

PubMed abstract

Prenatal infection and cavum septum pellucidum in adult schizophrenia

Authors: Brown AS; Deicken RF; Vinogradov S; Kremen WS; Poole JH; Penner JD; Kochetkova A; Kern D; Schaefer CA

Schizophr Res. 2009 Mar;108(1-3):285-7. Epub 2009 Jan 8.

PubMed abstract

Insulin-like growth factors, their binding proteins, and prostate cancer risk: analysis of individual patient data from 12 prospective studies

Authors: Roddam AW; Schaefer C; Quesenberry CP Jr; Galan P; et al.

Ann Intern Med. 2008 Oct 7;149(7):461-71, W83-8.

PubMed abstract

Maternal iron deficiency and the risk of schizophrenia in offspring

Authors: Insel BJ; Schaefer CA; McKeague IW; Susser ES; Brown AS

Arch Gen Psychiatry. 2008 Oct;65(10):1136-44.

PubMed abstract

Congenital anomalies and early functional impairments in a prospective birth cohort: risk of schizophrenia-spectrum disorder in adulthood

Authors: Waddington JL; Brown AS; Lane A; Schaefer CA; Goetz RR; Bresnahan M; Susser ES

Br J Psychiatry. 2008 Apr;192(4):264-7.

PubMed abstract

Race and risk of schizophrenia in a US birth cohort: another example of health disparity?

Authors: Bresnahan M; Begg MD; Brown A; Schaefer C; Sohler N; Insel B; Vella L; Susser E

Int J Epidemiol. 2007 Aug;36(4):751-8. Epub 2007 Apr 17.

PubMed abstract

The pharmacogenetics research network: from SNP discovery to clinical drug response

Authors: Giacomini KM; Schaefer CA; Pharmacogenetics Research Network; et al.

Clin Pharmacol Ther. 2007 Mar;81(3):328-45.

PubMed abstract

Elevated prenatal homocysteine levels as a risk factor for schizophrenia

Authors: Brown AS; Bottiglieri T; Schaefer CA; Quesenberry CP Jr; Liu L; Bresnahan M; Susser ES

Arch Gen Psychiatry. 2007 Jan;64(1):31-9.

PubMed abstract

Maternal-fetal blood incompatibility and the risk of schizophrenia in offspring

Authors: Insel BJ; Brown AS; Bresnahan MA; Schaefer CA; Susser ES

Schizophr Res. 2005 Dec 15;80(2-3):331-42. Epub 2005 Jul 11.

PubMed abstract

Response to Zhang et al. (2005): loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major depression. Neuron 45, 11-16

Authors: Glatt CE; Carlson E; Taylor TR; Risch N; Reus VI; Schaefer CA

Neuron. 2005 Dec 8;48(5):704-5; author reply 705-6.

PubMed abstract

Maternal exposure to toxoplasmosis and risk of schizophrenia in adult offspring

Authors: Brown AS; Schaefer CA; Quesenberry CP Jr; Liu L; Babulas VP; Susser ES

Am J Psychiatry. 2005 Apr;162(4):767-73.

PubMed abstract

Treatment with stimulants among youths in a large California health plan

Authors: Habel LA; Schaefer CA; Levine P; Bhat AK; Elliott G

J Child Adolesc Psychopharmacol. 2005 Feb;15(1):62-7.

PubMed abstract

Detection of postpartum depression and anxiety in a large health plan

Authors: Coates AO; Schaefer CA; Alexander JL

J Behav Health Serv Res. 2004 Apr-Jun;31(2):117-33.

PubMed abstract

Natural variation in human membrane transporter genes reveals evolutionary and functional constraints

Authors: Leabman MK; de la Cruz M; Pharmacogenetics Of Membrane Transporters Investigators; et al.

Proc Natl Acad Sci U S A. 2003 May 13;100(10):5896-901. Epub 2003 Apr 28.

PubMed abstract

Maternal prepregnant body mass and risk of schizophrenia in adult offspring

Authors: Schaefer CA; Brown AS; Wyatt RJ; Kline J; Begg MD; Bresnahan MA; Susser ES

Schizophr Bull. 2000;26(2):275-86.

PubMed abstract

Maternal exposure to respiratory infections and adult schizophrenia spectrum disorders: a prospective birth cohort study

Authors: Brown AS; Schaefer CA; Wyatt RJ; Goetz R; Begg MD; Gorman JM; Susser ES

Schizophr Bull. 2000;26(2):287-95.

PubMed abstract

Incidence and cumulative risk of treated schizophrenia in the prenatal determinants of schizophrenia study

Authors: Bresnahan MA; Brown AS; Schaefer CA; Begg MD; Wyatt RJ; Susser ES

Schizophr Bull. 2000;26(2):297-308.

PubMed abstract

The design of the prenatal determinants of schizophrenia study

Authors: Susser ES; Schaefer CA; Brown AS; Begg MD; Wyatt RJ

Schizophr Bull. 2000;26(2):257-73.

PubMed abstract

Role of a psychiatric outcome study in a large scale quality improvement project

Authors: Walter LJ; Schaefer C; Albright L; Parthasarathy S; Hunkeler EM; Westphal J; Williams M

Eval Program Plann. 1999 May;22(2):233-43.

PubMed abstract

Mortality following conjugal bereavement and the effects of a shared environment

Authors: Schaefer C; Quesenberry CP Jr; Wi S;

​Am J Epidemiol. 1995 Jun 15;141(12):1142-52.

PubMed abstract

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