Peter J. Hulick
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View article: Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review
Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review Open
Myhre syndrome is a rare disorder that typically results from a de novo SMAD4 variant. De novo SMAD4 variants have recently been shown to be associated with ‘selfish selection’ in the male germline, explaining their exclusive paternal orig…
View article: Advancing the science of genomic learning healthcare systems
Advancing the science of genomic learning healthcare systems Open
Introduction Identifying key characteristics of exemplar genomic learning healthcare systems (gLHS) and knowledge gaps that can be explored by collaboration among them is likely to accelerate the sharing of best practices and generation of…
View article: Polygenic Score Complements Family History and Lynch Syndrome Genes for Predicting Colorectal Cancer Risk
Polygenic Score Complements Family History and Lynch Syndrome Genes for Predicting Colorectal Cancer Risk Open
PURPOSE Family history (FH) and pathogenic variants (PVs) in Lynch syndrome (LS) genes are established risk factors of colorectal cancer (CRC). This study evaluates whether newly published polygenic scores (PGSs) improve CRC prediction of …
View article: SIU-ICUD: Germline Genetic Susceptibility to Prostate Cancer: Utility and Clinical Implementation
SIU-ICUD: Germline Genetic Susceptibility to Prostate Cancer: Utility and Clinical Implementation Open
Background/Objectives: Prostate cancer is the most common cancer among men globally and a leading cause of cancer-related death. Germline genetic evaluation is increasingly recognized as essential for men with high-risk features such as a …
View article: Estimating Cancer Penetrance in Carriers of <scp><i>BRCA2</i></scp> Pathogenic Variants Using Cancer‐Specific Polygenic Scores
Estimating Cancer Penetrance in Carriers of <span><i>BRCA2</i></span> Pathogenic Variants Using Cancer‐Specific Polygenic Scores Open
Introduction BRCA2 is a causal gene for hereditary breast and ovarian cancer (HBOC) syndrome. However, its association with other cancers and interplay with polygenic scores (PGS) remains unclear. Methods An observational cohort study for …
View article: P612: Adherence to clinical follow-up care in patients identified with familial hypercholesterolemia through population genetic screening program
P612: Adherence to clinical follow-up care in patients identified with familial hypercholesterolemia through population genetic screening program Open
View article: Personalized medicine in a community health system: the Endeavor Health experience
Personalized medicine in a community health system: the Endeavor Health experience Open
CONTEXT: Genomic and personalized medicine implementation efforts have largely centered on specialty care in tertiary health systems. There are few examples of fully integrated care systems that span the healthcare continuum. In 2014, Ende…
View article: Validation of <scp>GenProb</scp>‐<scp>T1D</scp> and its clinical utility for differentiating types of diabetes in a biobank from a US healthcare system
Validation of <span>GenProb</span>‐<span>T1D</span> and its clinical utility for differentiating types of diabetes in a biobank from a US healthcare system Open
Atypical diabetes with overlapping clinical features of type 1 (T1D) and type 2 (T2D) is common and challenging diagnostically and for implementing effective treatment. Here, we validate a recently reported genetic probability of type 1 di…
View article: P545: Using direct messaging for patient engagement in inherited cancer risk management: A pilot intervention
P545: Using direct messaging for patient engagement in inherited cancer risk management: A pilot intervention Open
NorthShore University HealthSystem integrated a family health history screening tool into primary care (Genetic Wellness Assessment, GWA) and into routine screening mammogram (Breast Health Assessment, BHA) utilizing the electronic health …
View article: Personalized medicine in a community health system: the NorthShore experience
Personalized medicine in a community health system: the NorthShore experience Open
Genomic and personalized medicine implementation efforts have largely centered on specialty care in tertiary health systems. There are few examples of fully integrated care systems that span the healthcare continuum. In 2014, NorthShore Un…
View article: Effects of Social Determinants and Pharmacogenetic Medication Interactions on 90-Day Hospital Readmissions
Effects of Social Determinants and Pharmacogenetic Medication Interactions on 90-Day Hospital Readmissions Open
Context: The present study builds on our prior work that demonstrated an association between pharmacogenetic interactions and 90-day readmission. Objective: Evaluate aggregate contribution of social determinants, comorbidity, and gene-x-dr…
View article: Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2 Open
View article: Table S4 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Table S4 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk Open
Association results after the adjustment for nearby GWAS index SNPs for genes with predicted gene expression levels associated with ovarian cancer risk at P < 2.21E-6.
View article: Data from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Data from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk Open
Large-scale genome-wide association studies (GWAS) have identified approximately 35 loci associated with epithelial ovarian cancer (EOC) risk. The majority of GWAS-identified disease susceptibility variants are located in noncoding regions…
View article: Table S7 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Table S7 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk Open
Variants with P < 5E-8 either in BCAC or OCAC between 42,836,399 and 44,910,520 on the chromosome 17.
View article: Table S2 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Table S2 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk Open
Chromosomal regions with predicted gene expression levels associated with epithelial ovarian cancer risk at P < 2.21E-6 with either ovarian or cross-tissue model.
View article: Table S1 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Table S1 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk Open
Internal performance of ovarian and cross-tissue gene expression prediction models built using GTEx data.
View article: Table S4 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Table S4 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk Open
Association results after the adjustment for nearby GWAS index SNPs for genes with predicted gene expression levels associated with ovarian cancer risk at P < 2.21E-6.
View article: Table S8 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Table S8 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk Open
Association results between minor alleles of 467 variants incorportated in cross tissue gene expression prediction model for the gene of CRHR1.
View article: Table S5 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Table S5 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk Open
Genes coregulated in predicted expression at 2q31.1, 9p22.3, 17q21.31 and 17q21.32.
View article: Table S2 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Table S2 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk Open
Chromosomal regions with predicted gene expression levels associated with epithelial ovarian cancer risk at P < 2.21E-6 with either ovarian or cross-tissue model.
View article: Table S1 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Table S1 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk Open
Internal performance of ovarian and cross-tissue gene expression prediction models built using GTEx data.
View article: Table S6 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Table S6 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk Open
Association results between associated genes with P < P < 2.21E-6 and risk of different histotypes of epithelial ovarian cancer.
View article: Table S3 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Table S3 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk Open
Known common variants identified from genome-wide assocation studies and their bioinformatically predicted target genes.
View article: Table S7 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Table S7 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk Open
Variants with P < 5E-8 either in BCAC or OCAC between 42,836,399 and 44,910,520 on the chromosome 17.
View article: Table S6 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Table S6 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk Open
Association results between associated genes with P < P < 2.21E-6 and risk of different histotypes of epithelial ovarian cancer.
View article: Online Supplementary Materials from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Online Supplementary Materials from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk Open
Online Supplementary Documents
View article: Table S5 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Table S5 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk Open
Genes coregulated in predicted expression at 2q31.1, 9p22.3, 17q21.31 and 17q21.32.
View article: Table S8 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Table S8 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk Open
Association results between minor alleles of 467 variants incorportated in cross tissue gene expression prediction model for the gene of CRHR1.
View article: Data from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Data from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk Open
Large-scale genome-wide association studies (GWAS) have identified approximately 35 loci associated with epithelial ovarian cancer (EOC) risk. The majority of GWAS-identified disease susceptibility variants are located in noncoding regions…