Chad Huff, PhD
Department of Epidemiology, Division of Cancer Prevention and Population Sciences
About Dr. Chad Huff
My research is concentrated on understanding human evolution and the genetic basis of human disease through statistical, computational, and population genomics. My work spans a number of human genetics subdisciplines, including disease-gene identification, mutation rate estimation, detection of recent positive selection, and reconstruction of demographic history. I am currently focused on developing new methods to analyze genomic data and by applying these methods to discover novel insights about the genetic basis of human disease, with particular emphasis on identifying and characterizing genes that increase the risk of developing common cancers (colon, breast, head and neck, lung, pancreatic, prostate, and thyroid).
Major Accomplishments
- Strong publication record, with over 20 peer-reviewed papers, including three papers in Science, two in Nature Genetics, three in Genome Research, and one each in American Journal of Human Genetics, PLoS Genetics, and PNAS.
- Excellent progress in obtaining extramural funding in the first year as an independent investigator, with two established subcontracts, two submitted R01 proposals as a PI, and eight submitted R01 proposals as a co-investigator.
- Principal designer for the algorithm in the Variant Annotation, Analysis, and Search Tool (VAAST), which is a tool designed to identify disease-causing variation from next generation sequence data (Patent application number 61/381,239).
- Designed algorithm and software for the software package Estimation of Recent Shared Ancestry (ERSA), which greatly expands the range of familial relationships that can be detected from genomic data (Patent application number 61/433,921).
Present Title & Affiliation
Primary Appointment
Professor, Department of Epidemiology, Division of Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX
Associate Professor with Term Tenure, Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX
Dual/Joint/Adjunct Appointment
Professor, Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX
Research Interests
* Identifying intermediate-risk and high-risk cancer susceptibility loci from the analysis of rare genetic variation.
* Developing methods and software to identify disease-causing genes from sequence data.
* Developing new methods for pedigree analysis and cryptic relationship identification from genomic data.
* Estimating human mutation rates.
* Uncovering the genetic basis of recent positive selection in humans.
* Reconstructing human demographic history.
Education & Training
Degree-Granting Education
| 2008 | University of Utah, Salt Lake City, Utah, US, Biological Anthropology, Ph.D |
| 2004 | University of Utah, Salt Lake City, Utah, US, Biological Anthropology, M.S |
| 1996 | Missouri State University, Springfield, Missouri, US, Computer Information Systems, BA |
Postgraduate Training
| 2017-2017 | Postdoc, Heart of Leadership Program, University of Texas MD Anderson Cancer Center, Houston, Texas |
Experience & Service
Faculty Academic Appointments
Associate Professor with Term Tenure, Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX, 2017 - 2023
Assistant Professor, Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX, 2012 - 2017
Postdoctoral Fellow, The University of Utah, Salt Lake City, UT, 2008 - 2012
Other Professional Positions
Software Developer, Whitehead Institute for Biomedical Research, Cambridge, MA, 2001 - 2002
Database Consultant, iDBA, St. Louis, MO, 2000
Database Architect, Stockell Consulting, St. Louis, MO, 1999 - 2000
Database Consultant, Oracle, St. Louis, MO, 1998 - 1999
Database Consultant, MacKenzie and Roth, St. Louis, MO, 1997 - 1998
Database Administrator, Southwestern Bell, St. Louis, MO, 1996 - 1997
Extramural Institutional Committee Activities
Member, Graduate Education Committee, The University of Texas MD Anderson Cancer Center, 2023 - 2024
Chair, Housing, Parking & Mobility, Safety & Security subcommittee of the Graduate Education Committee, The University of Texas MD Anderson Cancer Center, 2023 - 2024
Member, Computing Storage and Backups Subcommittee of the Technology Infrastructure Informatics Committee, The University of Texas MD Anderson Cancer Center, 2020 - 2022
Voting Member, Research and Academics Informatics (RAI) Committee, The University of Texas MD Anderson Cancer Center, 2020 - Present
Member, Department of Biostatistics Associate Director of IS Hiring Committee, The University of Texas MD Anderson Cancer Center, 2019
Member, FY20 Department of Biostatistics Faculty Search Committee, The University of Texas MD Anderson Cancer Center, 2019 - 2020
Member, FY20 Department of Epidemiology Faculty Search Committee, The University of Texas MD Anderson Cancer Center, 2019 - 2020
Member, Department of Epidemiology Database Access Committee (DBAC) for the Patient History Database (PHDB), The University of Texas MD Anderson Cancer Center, 2018 - Present
Member, FY19 Department of Epidemiology Faculty Search Committee, The University of Texas MD Anderson Cancer Center, 2018 - 2019
Member, Department of Lymphoma and Myeloma Chair Search Advisory Committee, The University of Texas MD Anderson Cancer Center, 2018 - 2019
Member, FY19 Department of Biostatistics Faculty Search Committee, The University of Texas MD Anderson Cancer Center, 2018 - 2019
Member, Data Safety Monitoring Board, The University of Texas MD Anderson Cancer Center, 2017 - 2019
Chair, Research Storage Planning and Governance Consortium, The University of Texas MD Anderson Cancer Center, 2016 - Present
Chair, Institutional Research Data Storage Committee, The University of Texas MD Anderson Cancer Center, 2016 - Present
Committee Member, Faculty Advisory Mentoring Committee, The University of Texas MD Anderson Cancer Center, 2014 - 2019
Member, ePHDB Executive Committee, The University of Texas MD Anderson Cancer Center, 2014 - 2015
Member, Institutional Research Data Storage Committee, The University of Texas MD Anderson Cancer Center, 2014 - Present
Member, Research Storage Planning and Governance Consortium, The University of Texas MD Anderson Cancer Center, 2014 - Present
Member, High Performance Computing Steering Committee, The University of Texas MD Anderson Cancer Center, 2013 - 2014
Member, High Performance Computing Governance Committee/High Performance Research Computing Committee, The University of Texas MD Anderson Cancer Center, 2013 - Present
Member, Psychosocial, Behavioral and Health Services Research Committee, The University of Texas MD Anderson Cancer Center, 2012 - 2015
Editorial Activities
Panel Member, GSBS Alfred G. Knudsen Jr. Award Selection Panel, 2021
Honors & Awards
| 2017 - 2019 | Andrew Sabin Fellows Award, The University of Texas MD Anderson Cancer Center |
| 2015 | Leading Mentor in Cancer Prevention, The Division of Cancer Prevention and Population Sciences |
| 2011 - 2012 | Ruth L. Kirschstein National Research Service Award (T32) |
| 2010 - 2012 | AAAS/Science program for Excellence in Science |
| 1993 - 1996 | Missouri Higher Education Academic Scholarship |
| 1993 - 1996 | Missouri State University Presidential Scholar |
| 1993 | National Merit Scholarship |
Professional Memberships
Selected Presentations & Talks
Local Presentations
- 2019. Insights from Ongoing Whole-Exome Case-Control Studies in Melanoma and Colorectal, Ovarian, and Pancreatic Cancer. Conference. The University of Texas MD Anderson Cancer Center. Houston, TX, US.
- 2017. Design and Execution of Whole-Exome Studies of Cancer Risk. Conference. Department of Epidemiology Seminar Series, MDACC. Houston, TX, US.
- 2015. Identifying cancer predisposition genes from large-scale sequencing studies. Conference. The University of Texas MD Anderson Cancer Center. Houston, TX, US.
- 2013. Common and rare variants in cancer susceptibility: Application of next-generation sequencing in cancer epidemiology. Conference. MDACC. Houston, TX, US.
- Identifying disease genes through familial and case-control next-generation sequencing studies. Invited. UT School of Public Health. Houston, TX, US.
- Insights from Ongoing Whole-Exome Case-Control Studies in Melanoma and Colorectal, Ovarian, and Pancreatic Cancer. Invited. Human Genetics Seminar Series, UT School of Public Health. Houston, TX, US.
- Identification and Characterization of Cancer Predisposition Genes from Large-Scale Sequencing Studies. Invited. Gulf Coast Consortia for Quantitative Biosciences. Houston, TX, US.
- Identification and Characterization of Cancer Predisposition Genes from Large-Scale Sequencing Studies. Invited. UT School of Public Health. Houston, TX, US.
- Insights into demographic history and high-altitude adaptation in Tibet from whole-genome sequence analysis. Invited. University of Utah. Salt Lake City, UT, US.
- A Whole-Exome Case Control Association Study to Characterize the Contribution of Rare Coding Variation to Pancreatic Cancer Risk, Human Genetics Seminar Series. Invited. UT School of Public Health. Houston, TX, US.
Regional Presentations
- 2019. Utilizing High-Throughput Sequencing Studies to Characterize Risks Conferred by Genetic Variation in Cancer Predisposition Genes. Invited. University of Hawaii Cancer Center, Epidemiology Program Seminar Series, US.
- 2015. Genomic analysis tools for familial and case-control sequencing studies. Invited. Texas A&M University. College Station, TX, US.
- 2009. Evidence for genetic hitchhiking at the inflammatory bowel disease 5 (IBD5) locus. Conference. University of Utah. Deer Valley, UT, US.
- 2009. Mobile elements prefer ancient genealogies. Conference. Institute for Systems Biology. Seattle, WA, US.
National Presentations
- 2023. Pediatric Rhabdomyosarcoma Precision Multi-Omics to Inform Susceptibility and Outcomes (PROmISe) P01 Project Proposal Virtual Meeting. Conference. Germline Genetics Project, US.
- 2021. Insights from Ongoing Case-Control Sequencing Studies in Other Cancers. Conference. Hepatocellular Carcinoma Epidemiology Consortium (HCCEC) Annual Meeting. Houston, TX, US.
- 2019. Whole Exome Sequencing Projects to Identify Ovarian Cancer Susceptibility Genes. Conference. Genetic and Functional Genomics Analyses of Epithelial Ovarian Cancer. Houston, TX, US.
- 2019. Insights from Ongoing Case-Control Sequencing Studies in Other Cancers. Conference. Hepatocellular Carcinoma Epidemiology Consortium (HCCEC) Annual Meeting. Houston, TX, US.
- 2019. Whole-Exome Case-Control Study of Ovarian Cancer. Conference. Ovarian Cancer Association Consortium (OCAC) Annual Meeting, US.
- 2017. Whole Exome Sequencing of Sporadic Pancreatic Cancer to Identify Susceptibility Genes, Pancreatic Cancer Case-Control Consortium (PanC4). Conference. Whole Exome Sequencing of Sporadic Pancreatic Cancer to Identify Susceptibility Genes, Pancreatic Cancer Case-Control Consortium (PanC4), US.
- 2016. Exome sequencing for sporadic pancreatic ductal adenocarcinoma, Pancreatic Cancer Genome-wide Association Consortiums Meeting. Conference. PANC4, PANSCAN, PANGEN, US.
- 2016. Lessons Learned on the Application of Exome Sequencing to Cancer Epidemiology Studies. Invited. NCI Sequencing Strategies for Population and Cancer Epidemiology Studies (SeqSPACE) webinar, US.
- 2015. Whole-exome case-control association and somatic-germline interaction analyses of five major cancer types, Translating Cancer Epidemiology: From Cells to Clinic and Population. Conference. Huntsman Cancer Institute. Salt Lake City, UT, US.
- 2014. Detecting statistical interaction between somatic mutational events and germline variation from next-generation sequence data. Conference. Pacific Symposium on Biocomputing, HI, US.
- 2013. pVAAST: A new method for family-based rare variant association testing. Conference. The American Society of Human Genetics 63rd Annual Meeting. Boston, MA, US.
- 2007. The hitchhiking effect of incomplete selective sweeps. Conference. The 76th Annual Meeting of the American Association of Physical Anthropologists. Philadelphia, PA, US.
International Presentations
- 2018. Statistical and Computational Challenges in High-Throughput Genomics with Application to Precision Medicine, Genomic analysis tools for familial and case-control sequencing association studies. Conference. Banff International Research Station for Mathematical Innovation and Discovery (BIRS), of Casa Mateatica Oaxaca (CMO). Oaxaca, MX.
- 2016. Rare variant cancer association studies with heterogeneous sequencing datasets. Conference. The American Society of Human Genetics 66th Annual Meeting. Vancouver B.C, CA.
- 2012. Incorporating pedigree information and phylogenetic conservation in tests of rare-variant association. Conference. 20th Annual International Conference on Intelligent Systems for Molecular Biology, special interest group HiTSeq: High-throughput sequencing algorithms and applications. Long Beach, US.
- 2011. Disease-gene identification and sex-specific mutation rate estimation from whole-genome sequence data on 21 individuals in a 5-generation heart disease pedigree. Conference. The American Society of Human Genetics 61st Annual Meeting. Montreal, CA.
Grant & Contract Support
| Date: | 2026 - 2028 |
| Title: | Integrating rare genetic variation and common variant polygenic background to characterize the heritability and transcriptomic landscape of neuroblastoma |
| Funding Source: | NIH/NCI |
| Role: | Co-I |
| ID: | R03/14504754 |
| Date: | 2026 - 2031 |
| Title: | Cancer Prevention Research Training at MD Anderson Cancer Center |
| Funding Source: | NIH/NCI |
| Role: | Mentor |
| ID: | T32CA306834-01A1 |
| Date: | 2026 - 2031 |
| Title: | Mechanistic Insights into R-Loop Accumulation and Tumor Initiation in Li-Fraumeni Syndrome |
| Funding Source: | NIH |
| Role: | Co-I |
| ID: | R01 |
| Date: | 2026 - 2028 |
| Title: | Discovery of Germline Susceptibility Variants for Nonsyndromic Craniosynostosis and Their Pleiotropic Roles in Cancer |
| Funding Source: | NIH / NCI |
| Role: | Co-I |
| ID: | R03 / GRANT14436627 |
| Date: | 2026 - 2028 |
| Title: | Leveraging Genetic Variation and Tumor Microenvironment Expression Profiling for Melanoma Metastasis Prediction |
| Funding Source: | NIH / NCI |
| Role: | Co-I |
| ID: | R21 / GRANT14436560 |
| Date: | 2026 - 2031 |
| Title: | The Role of Genetic Variants on Risk Stratification and Prediction of Immunotherapy Response in Hepatocellular Carcinoma |
| Funding Source: | NIH/NCI |
| Role: | PI |
| ID: | GRANT14479988 |
| Date: | 2026 - 2026 |
| Title: | The Jeffrey Pride Foundation of Pediatric Cancer Research |
| Funding Source: | MDACC |
| Role: | PI |
| ID: | FP00028232 |
| Date: | 2025 - 2030 |
| Title: | Pediatric Rhabdomyosarcoma Precision Omics to Inform Susceptibility and Outcomes: The PROmISe Study |
| Funding Source: | NIH |
| Role: | PI |
| ID: | P01 |
| Date: | 2025 - 2029 |
| Title: | Harnessing the power of genetic relatedness for disease gene discovery |
| Funding Source: | NIH |
| Role: | PI |
| ID: | R01GM133169 |
| Date: | 2025 - 2030 |
| Title: | Mapping HSP90- and HSP70-buffered genetic variations in humans |
| Funding Source: | NIH |
| Role: | Collaborator |
| ID: | R01 |
| Date: | 2025 - 2030 |
| Title: | Integrative Analysis of the Genetic and Environmental Determinants of Hereditary Cancers |
| Funding Source: | NIH |
| Role: | PI |
| ID: | R01 |
| Date: | 2025 - 2030 |
| Title: | AI-based phenotyping and novel approaches to rare variant analysis in large-scale EHR-linked biobanks for genetic discovery in FTD and ALS |
| Funding Source: | NIH |
| Role: | Co-PI |
| Date: | 2025 - 2027 |
| Title: | Leveraging Genetic Variation and Tumor Microenvironment Expression Profiling for Melanoma Metastasis Prediction |
| Funding Source: | NCI |
| Role: | Co-I |
| ID: | R21CA289834 |
| Date: | 2025 - 2030 |
| Title: | Increasing Uptake of Germline Genetic Testing among Prostate Cancer Patients in a Diverse Safety Net Hospital |
| Funding Source: | CPRIT |
| Role: | Advisor |
| ID: | RP250475 |
| Date: | 2025 - 2030 |
| Title: | Leveraging whole genome sequencing with functional genomics to enhance nonsyndromic cleft lip/palate (NSCLP) gene discovery |
| Funding Source: | NIH |
| Role: | PI |
| ID: | R01 DE033908 |
| Date: | 2025 - 2030 |
| Title: | Dissecting and Targeting Mutant p53-Driven Osteosarcomagenesis |
| Funding Source: | NIH/NCI |
| Role: | PI |
| ID: | R01 |
| Date: | 2025 - 2030 |
| Title: | Comprehensive analysis of common and rare genetic variants for risk stratification and prediction of immunotherapy response in Hepatocellular Carcinoma (HCC) |
| Funding Source: | NCI |
| Role: | PI |
| ID: | R01CA301697 |
| Date: | 2025 - 2029 |
| Title: | Harnessing the power of genetic relatedness for disease gene discovery |
| Funding Source: | NIH |
| Role: | Co-PI |
| ID: | R01 GM133169 |
| Date: | 2024 - 2029 |
| Title: | Leveraging whole genome sequencing and functional genomic characterization to improve nonsyndromic cleft lip/palate (NSCLP) gene discovery |
| Funding Source: | NIH |
| Role: | PI |
| ID: | FP00022177 |
| Date: | 2024 - 2028 |
| Title: | Leveraging Large-Scale Biobanks to Discover and Define Rare Variant Effects in Hypertrophic Cardiomyopathy |
| Funding Source: | Vanderbilt/NIH |
| Role: | Co-I |
| ID: | R01 HL174052 |
| Date: | 2024 - 2028 |
| Title: | Leveraging Large-Scale Biobanks to Discover and Define Rare Variant Effects in Hypertrophic Cardiomyopathy |
| Funding Source: | NIH |
| Role: | Co-I |
| ID: | R01 HL174052 |
| Date: | 2024 - 2029 |
| Title: | Leveraging whole genome sequencing and functional genomic characterization to improve NSCLP gene discovery |
| Funding Source: | UT Health Science Center Houston |
| Role: | Principal Investigator-MDACC |
| ID: | R01 |
| Date: | 2024 - 2028 |
| Title: | Leveraging Large-Scale Biobanks to Discover and Define Rare Variant Effects in Hypertrophic Cardiomyopathy |
| Funding Source: | NIH |
| Role: | Co-I |
| ID: | R01 |
| Date: | 2024 - 2028 |
| Title: | Leveraging Large‐Scale Biobanks to Discover and Define Rare Variant Effects in Hypertrophic Cardiomyopathy |
| Funding Source: | Vanderbilt/NIH |
| Role: | Co-I |
| ID: | R01 |
| Date: | 2024 - 2026 |
| Title: | Assessment of germline variations and cell type–specific expression signatures to predict melanoma metastasis |
| Funding Source: | NIH |
| Role: | Co-I |
| Date: | 2023 - 2028 |
| Title: | Harnessing WGS data and functional genomics to improve NSCLP gene discovery |
| Funding Source: | UT Health-NIH/NIDCR |
| Role: | Principal Investigator-MDACC |
| ID: | R01 DE032885 |
| Date: | 2023 - 2024 |
| Title: | Multiethnic GWAS and TWAS to Inform Risk Prediction for Prostate Cancer |
| Funding Source: | Prostate Cancer Foundation |
| Role: | Co-PI |
| ID: | U01CA257328 |
| Date: | 2023 - 2028 |
| Title: | Integrating Epidemiologic and Genomic Data to Elucidate the Genetic Overlap Between Congenital Anomalies and Pediatric Cancer |
| Funding Source: | NIH |
| Role: | PI |
| ID: | R01 CA284531 |
| Date: | 2023 - 2025 |
| Title: | Molecular epidemiology of acute lymphoblastic leukemia in children with Down syndrome |
| Funding Source: | NIH |
| Role: | Co-PI |
| ID: | R01 CA249867 |
| Date: | 2023 - 2028 |
| Title: | A multi-ethnic genome-wide association study with whole-exome sequencing to identify common and rare genetic risk factors for hepatocellular carcinoma |
| Funding Source: | NIH |
| Role: | PI |
| ID: | 1 R01 CA278219-01A1 |
| Date: | 2023 - 2028 |
| Title: | Reclassifying VUSs and identifying the phenotypic variability of pathogenic variants in Inherited Retinal Diseases using large-scale EMR biobanks |
| Funding Source: | Vanderbilt/NIH |
| Role: | MPI |
| Date: | 2023 - 2027 |
| Title: | Discovery and Characterization of Rare Variant Effects in Dilated Cardiomyopathy via Large-Scale Biobank Analysis |
| Funding Source: | Vanderbilt-NIH/NHLBI |
| Role: | Co-I |
| ID: | R01 HL167509-01A1 |
| Date: | 2023 - 2025 |
| Title: | Development of Large-Scale Hypothesis Testing Methods for Performing Genetic Meditation Analysis |
| Funding Source: | MD Anderson Cancer Center |
| Role: | Co-I |
| ID: | Andrew Sabin Family Foundation Fellowship Award |
| Date: | 2023 - 2028 |
| Title: | Leveraging comorbidity-based phenotyping and distant relatedness in large-scale EHR biobanks for case identification and novel genetic discovery in frontotemporal dementia |
| Funding Source: | Vanderbilt-NIH/NIA |
| Role: | Multiple Principal Investigator |
| ID: | R01 AG079587 |
| Date: | 2023 - 2026 |
| Title: | Multi-level assessment of genetic ancestry, social factors, and somatic profiles as mediators of multiple myeloma disparities |
| Funding Source: | Cancer Prevention & Research Institute of Texas (CPRIT) |
| Role: | Collaborator |
| ID: | RP230158 |
| Date: | 2022 - 2027 |
| Title: | Genetic susceptibility of hepatocellular carcinoma with whole–exome sequencing in absence of virus infection: multiethnic analysis |
| Funding Source: | NIH/NCI |
| Role: | PI |
| ID: | R01 CA278219 |
| Date: | 2022 - 2025 |
| Title: | Leveraging novel methods to improve nonsyndromic cleft lip/palate gene discovery |
| Funding Source: | University of Pittsburgh – NIH/NIDCR |
| Role: | Co-I |
| ID: | R03 DE032160 |
| Date: | 2022 - 2027 |
| Title: | Leveraging comorbidity-based phenotyping and distant relatedness in large-scale EHR biobanks for case identification and novel genetic discovery in frontotemporal dementia |
| Funding Source: | Vanderbilt-NIH/NCI |
| Role: | Multiple Principal Investigator |
| ID: | R0 1AG079587 |
| Date: | 2022 - 2027 |
| Title: | Multiple Myeloma in the Hispanic Population: Susceptibility, Clinical Features, and Somatic Profiles |
| Funding Source: | NIH/NCI |
| Role: | Co-I |
| ID: | R01 CA272618 |
| Date: | 2022 - 2027 |
| Title: | Leveraging comorbidity-based phenotyping and distant relatedness in large-scale EHR biobanks for case identification and novel genetic discovery in retinitis pigmentosa |
| Funding Source: | Vanderbilt University-NIH/NCI |
| Role: | Multiple Principal Investigator |
| ID: | R01 EY034372 |
| Date: | 2022 - 2027 |
| Title: | Genome-Wide Association Study (GWAS) of Hepatocellular Carcinoma (HCC) in Multi-Ethnic US Population |
| Funding Source: | NIH/NCI |
| Role: | Co-I |
| ID: | FP00014573 |
| Date: | 2021 - 2022 |
| Title: | X01 DE031445 "Whole genome sequencing studies of multiplex nonsyndromic cleft lip/palate families" |
| Funding Source: | |
| Role: |
| Date: | 2021 - 2026 |
| Title: | Identification and characterization of CDKN2A variants associated with melanoma risk |
| Funding Source: | University of Utah/NIH |
| Role: | Co-I |
| ID: | R01 CA262088 |
| Date: | 2021 - 2026 |
| Title: | Genome-Wide Association Study (GWAS) & Whole-Genome Sequencing (WGS) in Hepatocellular Carcinoma (HCC) in African American and Hispanics |
| Funding Source: | NIH/NCI |
| Role: | MPI |
| ID: | R01CA264997/FP00012579 |
| Date: | 2021 - 2026 |
| Title: | Dissecting and Targeting RB1-Mutant Osteosarcoma |
| Funding Source: | UT Health Science Center at Houston-NIH/NCI |
| Role: | Co-I |
| ID: | R01 CA246130 |
| Date: | 2020 - 2024 |
| Title: | Identifying Novel Cancer Predisposition Syndromes: An Integrative Epidemiologic and Genomic Approach |
| Funding Source: | Baylor College of Medicine/DOD |
| Role: | Co-I |
| ID: | W81XWH-20-1-0567 |
| Date: | 2020 - 2022 |
| Title: | Functional Evaluation of Candidate Genes for Melanoma |
| Funding Source: | University of Utah/NIH/NCI |
| Role: | PI |
| Date: | 2020 - 2027 |
| Title: | Establishing Clonal Mosaicism and Risk Across the Cancer Continuum |
| Funding Source: | NIH/NCI |
| Role: | Co-I |
| ID: | R35 CA253092 |
| Date: | 2020 - 2025 |
| Title: | Characterization of variants of uncertain significance (VUS) in cancer predisposition genes |
| Funding Source: | Mayo Clinic/NIH/NCI |
| Role: | PI |
| Date: | 2019 - 2024 |
| Title: | Genetic Overlap Between Anomalies and Cancer in Kids: The GOBACK Study |
| Funding Source: | NIH/NCI |
| Role: | Principal Investigator-MDACC |
| Date: | 2019 - 2023 |
| Title: | Characterizing Molecular Subtypes of Ovarian Cancer in African-American Women |
| Funding Source: | University of Utah-NIHNCI |
| Role: | Principal Investigator-MDACC |
| ID: | R01 CA200854 |
| Date: | 2019 - 2024 |
| Title: | Harnessing the power of genetic relatedness for disease gene discovery |
| Funding Source: | Vanderbilt-NIH/NIGMS |
| Role: | Multiple Principal Investigator |
| ID: | R01 GM133169 |
| Date: | 2019 - 2024 |
| Title: | Risk Characterization of Genomic Features in Large Cancer Pedigree Resource |
| Funding Source: | University of Utah/NIH/NCI |
| Role: | Principal Investigator-MDACC |
| Date: | 2019 - 2024 |
| Title: | Dissecting and Targeting RB1-Mutant Osteosarcoma |
| Funding Source: | NIH/NCI |
| Role: | Principal Investigator-MDACC |
| Date: | 2019 - 2024 |
| Title: | Molecular Predictors Associated with Unique Ancestry Driven Prostate Cancer Health Disparities Among African Americans and Puerto Rico Men |
| Funding Source: | NIH/NCI |
| Role: | Co-I |
| ID: | R01 Ca232326 |
| Date: | 2019 - 2021 |
| Title: | Machine Learning for Pancreas Cancer Risk |
| Funding Source: | John Hopkins - SU2C |
| Role: | Co-Leader |
| Date: | 2017 - 2019 |
| Title: | Comprehensive Analysis of the Kids First Pediatric Research Project on Adolescent Idiopathic Scoliosis |
| Funding Source: | NIH |
| Role: | Principal Investigator-MDACC |
| ID: | R03 HD094104 |
| Date: | 2017 - 2019 |
| Title: | Next-Generation Sequencing to Identify and Characterize Breast Cancer Risk Genes in Hispanic American Women |
| Funding Source: | Andrew Sabin Family Fellows Award |
| Role: | PI |
| Date: | 2017 - 2022 |
| Title: | A Highly Focused Approach to Prostate Cancer Predisposition Gene Identification |
| Funding Source: | University of Utah/NIH/NCI |
| Role: | Co-I |
| Date: | 2017 - 2022 |
| Title: | NO TITLE PROVIDED |
| Funding Source: | University of Texas Health Science Center at Houston |
| Role: | Principal Investigator-MDACC |
| ID: | R01 HG009498 |
| Date: | 2016 - 2021 |
| Title: | Tbx3-regulated alternative RNA processing in cardiac conduction system development |
| Funding Source: | NIH/NHLBI |
| Role: | Principal Investigator-MDACC |
| ID: | R01 HL132397 |
| Date: | 2016 - 2020 |
| Title: | Discovery of Novel Genetic Predictors of Late Anthracycline Cardiotoxicity in Long-Term Childhood Cancer Survivors |
| Funding Source: | Cancer Prevention & Research Institute of Texas (CPRIT) |
| Role: | Co-I |
| ID: | RP160262 |
| Date: | 2015 - 2017 |
| Title: | Integrating Physiology and Genomics to Reveal Functional Adaptation in High-Altitude Tibetans |
| Funding Source: | NIH/NHLBI |
| Role: | Principal Investigator-MDACC |
| ID: | R00 HL118215 |
| Date: | 2015 - 2022 |
| Title: | Discovery of Novel Rare Variants as Ovarian Cancer Susceptibility Factors |
| Funding Source: | NIH/NCI |
| Role: | Multiple Principal Investigator |
| ID: | R01 CA188943 |
| Date: | 2015 - 2017 |
| Title: | RNAs and Melanoma Risk |
| Funding Source: | NIH/NCI |
| Role: | Co-I |
| ID: | CA199350 |
| Date: | 2015 - 2021 |
| Title: | Discovery of Risk Loci and Genomics of Pancreatic Cancer through Exome Sequencing |
| Funding Source: | NIH/NCI |
| Role: | Multiple Principal Investigator |
| ID: | R01 CA181244 |
| Date: | 2015 - 2022 |
| Title: | High-throughput Sequencing to Identify Novel Melanoma Susceptibility Genes |
| Funding Source: | NIH/NCI |
| Role: | Multiple Principal Investigator |
| ID: | R01 CA195614 |
| Date: | 2015 - 2020 |
| Title: | High-throughput Sequencing to Identify Novel Prostate Cancer Susceptibility Genes |
| Funding Source: | NIH/NCI |
| Role: | Multiple Principal Investigator |
| ID: | R01 CA193807 |
| Date: | 2015 - 2018 |
| Title: | High-throughput sequencing to identify novel prostate cancer susceptibility genes and genes influencing prostate cancer aggressiveness |
| Funding Source: | Cancer Prevention & Research Institute of Texas (CPRIT) |
| Role: | PI |
| ID: | RP150061 |
| Date: | 2015 - 2020 |
| Title: | Arsenic Exposure and Risk of Prostate Cancer in Black, Hispanic and White Men |
| Funding Source: | NIH/NCI |
| Role: | Co-I |
| Date: | 2014 - 2017 |
| Title: | Computational and experimental analysis of non-coding SNPs in drug addition |
| Funding Source: | NIH/NCI |
| Role: | Principal Investigator-MDACC |
| Date: | 2014 - 2020 |
| Title: | Exome sequencing for head and neck cancer susceptibility genes |
| Funding Source: | NIH/NCI |
| Role: | Principal Investigator-MDACC |
| ID: | R01 DE023414 |
| Date: | 2014 - 2019 |
| Title: | Massively parallel sequencing for lethal prostate cancer genes |
| Funding Source: | NIH/NCI |
| Role: | Principal Investigator-MDACC |
| Date: | 2014 - 2019 |
| Title: | Mechanism of Erythropoiesis |
| Funding Source: | NIH/NCI |
| Role: | PI |
| Date: | 2014 - 2021 |
| Title: | Next generation sequencing to identify novel colorectal cancer genes |
| Funding Source: | NIH/NCI |
| Role: | Multiple Principal Investigators |
| ID: | R01 CA177935 |
| Date: | 2013 - 2017 |
| Title: | VAAST+: tool for variant prioritization, risk assessment, and disease-gene finding |
| Funding Source: | NIH/NIGMS |
| Role: | Principal Investigator-MDACC |
| ID: | R01 GM104390-01 |
| Date: | 2013 - 2018 |
| Title: | Exome Sequencing to Identify Breast Cancer Risk Factors in Hispanic Americans |
| Funding Source: | NIH/NCI |
| Role: | Multiple Principal Investigator |
| ID: | R01 CA181421 |
| Date: | 2013 - 2016 |
| Title: | A Workflow system for quality-assured sequence data analysis |
| Funding Source: | NIH/NCI |
| Role: | Co-I |
| ID: | U01 CA180958 |
| Date: | 2013 - 2015 |
| Title: | Circulating microRNAs as prognostic biomarkers for gliomas; a pilot study |
| Funding Source: | NIH/NCI |
| Role: | Co-I |
| Date: | 2013 - 2018 |
| Title: | Multidisciplinary investigation of genetic susceptibility to bladder cancer |
| Funding Source: | NIH/NCI |
| Role: | Co-I |
| Date: | 2013 - 2018 |
| Title: | Exome sequencing to identify germline predictors of recurrence in lung cancer |
| Funding Source: | NIH/NCI |
| Role: | Co-I |
| Date: | 2013 - 2018 |
| Title: | Whole Exome Sequencing Study in Lung Cancer Risk |
| Funding Source: | NIH/NCI |
| Role: | Co-I |
| Date: | 2013 - 2018 |
| Title: | Sibling study of age-related macular degeneration |
| Funding Source: | NIH/NCI |
| Role: | Principal Investigator-MDACC |
| Date: | 2012 - 2018 |
| Title: | Massively Parallel Sequencing for Familiar Colon Cancer Genes |
| Funding Source: | NIH/NCI |
| Role: | Principal Investigator-MDACC |
| ID: | R01 CA164138 |
| Date: | 2012 - 2015 |
| Title: | Rare Disease Susceptibility Alleles in Children with Crohn Disease |
| Funding Source: | NIH/NIDDK |
| Role: | Principal Investigator-MDACC |
| ID: | DK091374 |
| Date: | 2011 - 2012 |
| Title: | Multidisciplinary Pulmonary and Critical Care Research Training Program |
| Funding Source: | NIH/NCI |
| Role: | Co-I |
| ID: | T32 HL105321 |
| Date: | 2010 - 2014 |
| Title: | Genetic Analysis of Anticipation in Lynch Syndrome |
| Funding Source: | Cancer Prevention & Research Institute of Texas (CPRIT) |
| Role: | Co-I |
| ID: | RP110054 |
| Date: | 2010 - 2014 |
| Title: | Transdisciplinary Research in Cancer of the Lung (TRICL) ; Area 3: Epidemiologic Architecture of Lung Cancer and Smoking |
| Funding Source: | NIH/NCI |
| Role: | Co-I |
| ID: | U19 CA148127 |
| Date: | 2009 - 2021 |
| Title: | MD Anderson Cancer Center Prostate SPORE Project 4. Mitochondria, MicroRNA, and Metabolites in Predicting Aggressive Prostate Cancer |
| Funding Source: | NIH/NCI |
| Role: | Co-I |
| ID: | P50 CA140388 |
Selected Publications
Peer-Reviewed Articles
- Tark JY, Renwick A, Tettamanti G, Harris RD, Desrosiers TA, Olshan AF, Janitz AE, Scheurer ME, Shumate CJ, Scheuerle AE, Plon SE, Huff CD, Nordgren A, Luke B, Lupo PJ, Schraw JM. A Population-Based Assessment of Cancer Risk in Children With VACTERL. Am J Med Genet A, 2025. e-Pub 2025. PMID: 41432111.
- Tark JY, Renwick A, Yu Y, Sabo A, Olshan AF, Plon SE, Huff CD, Lupo PJ. Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk. Pediatr Blood Cancer:e70055, 2025. e-Pub 2025. PMID: 41431348.
- Hsu CJ, Schraw JM, Rasmussen SA, Chambers TM, Desrosiers TA, Huff CD, Janitz AE, Kirby RS, Nestoridi E, Nembhard WN, Salemi JL, Shumate C, Tanner JP, Yazdy MM, Scheurer ME, Rabin KR, Lupo PJ. Structural birth defects and leukemia risk in children with Down syndrome. Sci Rep 16(1):1741, 2025. e-Pub 2025. PMID: 41381659.
- Colin Leitzinger, C, Lawson-Michod, KA, Johnson, CE, Vlasac, IM, Yoder, SJ, Mesa, TE, Roeber, D, Huff, C, Hildebrandt, MA, Haller, K, Alberg, AJ, Bandera, EV, Bondy, ML, Cote, ML, Hastert, TA, Peters, ES, Terry, P, Lawson, A, Berchuck, A, Fridley, BL, Chern, JY, Doherty, JA, Marks, JR, Schildkraut, J, Christensen, B, Salas, LA, Peres, LC. Retrotransposon methylation profiles and survival in Black women with high-grade serous ovarian carcinoma. Clinical epigenetics 17(1), 2025. e-Pub 2025. PMID: 40734190.
- Feng H, Wu L, Zhao B, Huff C, Zhang J, Wu J, Lin L, Wei P, Wu C. Benchmarking DNA foundation models for genomic and genetic tasks. Nat Commun 16(1):10780, 2025. e-Pub 2025. PMID: 41315262.
- Evans, GF, Baker, JT, Petty, LE, Petty, AS, Polikowsky, HG, Bohlender, R, Chen, HH, Chou, CY, Viljoen, KZ, Beilby, JM, Kraft, SJ, Zhu, W, Landman, JM, Morrow, AR, Bian, D, Scartozzi, AC, Huff, C, Below, JE. COMPADRE. American journal of human genetics 112(11):2805-2813, 2025. e-Pub 2025. PMID: 41072407.
- Lawson-Michod, KA, Johnson, CE, Barnard, ME, Davidson, NR, Collin, LJ, Nix, D, Huff, C, Berchuck, A, Salas, LA, Greene, CS, Marks, JR, Peres, LC, Doherty, JA, Schildkraut, J. Homologous Recombination Deficiency and Survival in Ovarian High-Grade Serous Carcinoma by Self-Reported Race. Cancer Epidemiology Biomarkers and Prevention 34(11):2007-2014, 2025. e-Pub 2025. PMID: 40905821.
- Chang, YH, Bresnahan, S, Taylor Head, S, Harrison, TA, Yu, Y, Huff, C, Pasaniuc, B, Lindstrom̈, S, Bhattacharya, A. Isoform-level analyses of 6 cancers uncover extensive genetic risk mechanisms undetected at the gene-level. British journal of cancer 133(6):874-885, 2025. e-Pub 2025. PMID: 40775447.
- Polikowsky, HG, Scartozzi, AC, Shaw, DM, Pruett, DG, Chen, HH, Petty, LE, Petty, AS, Lowther, EJ, Cho, SH, Yu, Y, Mozaffari, S, Avery, CL, Harris, KM, Gordon, RL, Beilby, JM, Viljoen, KZ, Jones, RM, Huff, C, Highland, HM, Kraft, SJ, Below, JE. Large-scale genome-wide analyses of stuttering. Nature Genetics 57(8):1835-1847, 2025. e-Pub 2025. PMID: 40721530.
- Graham AM, Saputra E, Kirilenko B, Presnell JS, Harrington A, Huff C, Hiller M, Clark N. Convergent reduction of olfactory genes and olfactory bulb size in mammalian species at altitude. Curr Biol 35(13):3269-3277.e4, 2025. e-Pub 2025. PMID: 40562037.
- Onwuka EA, Magyar CL, Martin-Giacalone BA, Scheurer ME, Marquez-Do DA, Zobeck M, Atkinson EG, Rudzinski ER, Arnold MA, Barkauskas DA, Hall D, Khan J, Shern JF, Scheet P, Crompton B, Linardic CM, Hawkins DS, Venkatramani R, Mirabello L, Huff CD, Richard MA, Lupo PJ. The impact of genetic ancestry on survival outcomes in pediatric rhabdomyosarcoma: A report from the Children's Oncology Group. HGG Adv 6(3):100466, 2025. e-Pub 2025. PMID: 40495382.
- Lawson-Michod KA, Marks JR, Collin LJ, Nix DA, Davidson NR, Huff CD, Yu Y, Atkinson A, Johnson CE, Salas LA, Peres LC, Greene CS, Schildkraut JM, Doherty JA. Genomic Characterization of High-Grade Serous Ovarian Carcinoma Reveals Distinct Somatic Features in Black Individuals. Cancer Res 85(9):1725-1737, 2025. e-Pub 2025. PMID: 40063699.
- Schraw, JM, Tark, JY, Desrosiers, TA, Chambers, TM, Shumate, CJ, Nembhard, WN, Yazdy, MM, Nestoridi, E, Malone, MW, Laetsch, TW, Widemann, BC, Janitz, AE, Tanner, JP, Kirby, RS, Salemi, JL, Spector, LG, Huff, C, Plon, SE, Lupo, PJ. Risk of carcinomas among children and adolescents with birth defects. Cancer Epidemiology 95, 2025. e-Pub 2025. PMID: 39848200.
- Hoang TT, Schraw JM, Shumate C, Desrosiers TA, Nembhard WN, Yazdy M, Nestoridi E, Janitz AE, Kirby RS, Salemi JL, Tanner JP, Chambers TM, Taylor MD, Huff CD, Plon SE, Lupo PJ, Scheurer ME. Co-occurrence of congenital anomalies and childhood brain tumors in 22 million live births. Neuro Oncol 27(7):1910-1922, 2025. e-Pub 2025. PMID: 40138258.
- Gu, H, Yu, Y, Sisoudiya, SD, Mishra, P, Li, H, Schraw, JM, Scheurer, ME, Muzny, DM, Mitchell, D, Taylor, O, Jhangiani, SN, Dugan, SP, Wu, Y, Doddapaneni, HV, Bhamidipati, S, Gingras, MC, Posey, JE, Gibbs, RA, Huff, C, Plon, SE, Lupo, PJ, Sabo, A. An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports KAT6B as a novel neuroblastoma susceptibility gene. Genetics in Medicine Open 3, 2025. e-Pub 2025.
- Lancaster MC, Chen HH, Shoemaker MB, Fleming MR, Strickland TL, Baker JT, Evans GF, Polikowsky HG, Samuels DC, Huff CD, Roden DM, Below JE. Detection of distant relatedness in biobanks to identify undiagnosed cases of Mendelian disease as applied to Long QT syndrome. Nature communications 15(1), 2024. e-Pub 2024. PMID: 39209900.
- Venkatesh N, Tidwell RS, Yu Y, Aparicio A, Zurita AJ, Subudhi SK, Siddiqui BA, Mukhida SS, Gregg JR, Corn PG, Koutroumpakis E, McQuade JL, Frigo DE, Pilie PG, Huff C, Logothetis CJ, Hahn AW. Body composition in recurrent prostate cancer and the role of steroidogenic genotype. Endocr Relat Cancer 31(12), 2024. e-Pub 2024. PMID: 39324992.
- Hahn, AW, Manyam, GC, Chapin, BF, Zhang, M, Yu, Y, Pettaway, CA, Chery, LJ, Pisters, LL, Ward, JF, Gregg, JR, Papadopoulos, JN, Kamat, A, Lozano, M, Hoang, A, Broom, BM, Wang, X, Huff, C, Logothetis, CJ, Troncoso, P, Pilie, PG, Davis, JW. A phase II trial of apalutamide for intermediate-risk prostate cancer and molecular correlates. BJU international 134(3):449-458, 2024. e-Pub 2024. PMID: 38837608.
- DeMartino S, Keefer JM, Huff C. Endometrial Adenocarcinoma After a Benign Biopsy Without Atypia: A Case Report. Cureus 16(8):e67906, 2024. e-Pub 2024. PMID: 39328680.
- Plowman, JN, Matoy, EJ, Uppala, LV, Draves, SB, Watson, CJ, Sefranek, BA, Stacey, M, Anderson, SP, Belshan, MA, Blue, EE, Huff, C, Fu, Y, Stessman, HA. Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies. Human Genetics and Genomics Advances 5(3), 2024. e-Pub 2024. PMID: 38734904.
- Matoy, EJ, Plowman, JN, Watson, CJ, Belshan, MA, Blue, EE, Huff, C, Stessman, HA. In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk. Human Genetics and Genomics Advances 5(3), 2024. e-Pub 2024. PMID: 38654521.
- Hahn AW, Tidwell RS, Pilie PG, Yu Y, Liu J, Surasi DS, Titus M, Zhang J, Venkatesh N, Panaretakis T, Gregg JR, Zurita AJ, Siddiqui BA, Corn PG, Subudhi SK, Msaouel P, Koutroumpakis E, Huff CD, Aparicio A, McQuade JL, Frigo DE, Logothetis CJ. Body composition as a determinant of the therapeutic index with androgen signaling inhibition. Prostate Cancer Prostatic Dis 28(3):802-808, 2024. e-Pub 2024. PMID: 39019979.
- Aparicio, A, Tidwell, RS, Yadav, SS, Chen, JS, Zhang, M, Liu, J, Guo, S, Pilie, PG, Yu, Y, Song, X, Vundavilli, H, Jindal, S, Zhu, K, Viscuse, PV, Lebenthal, J, Hahn, AW, Soundararajan, R, Corn, P, Zurita-Saavedra, A, Subudhi, SK, Zhang, J, Wang, W, Huff, C, Troncoso, P, Allison, JP, Sharma, P, Logothetis, CJ. A Modular Trial of Androgen Signaling Inhibitor Combinations Testing a Risk-Adapted Strategy in Patients with Metastatic Castration-Resistant Prostate Cancer. Clinical Cancer Research 30(13):2751-2763, 2024. e-Pub 2024. PMID: 38683200.
- Gu, J, Chery, LJ, González, GM, Huff, C, Strom, SS, Jones, J, Griffith, DP, Canfield, SE, Wang, X, Huang, X, Roberson, P, Meng, QH, Troncoso, P, Ittmann, MM, Covinsky, MH, Scheurer, ME, Irizarry-Ramírez, M, Pettaway, CA. A west African ancestry-associated SNP on 8q24 predicts a positive biopsy in African American men with suspected prostate cancer following PSA screening. Prostate 84(7):694-705, 2024. e-Pub 2024. PMID: 38477020.
- . CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. Genome Biol 25(1):53, 2024. e-Pub 2024. PMID: 38389099.
- Lawrence ES, Gu W, Bohlender RJ, Anza-Ramirez C, Cole AM, Yu JJ, Hu H, Heinrich EC, O'Brien KA, Vasquez CA, Cowan QT, Bruck PT, Mercader K, Alotaibi M, Long T, Hall JE, Moya EA, Bauk MA, Reeves JJ, Kong MC, Salem RM, Vizcardo-Galindo G, Macarlupu JL, Figueroa-Mujica R, Bermudez D, Corante N, Gaio E, Fox KP, Salomaa V, Havulinna AS, Murray AJ, Malhotra A, Powel FL, Jain M, Komor AC, Cavalleri GL, Huff CD, Villafuerte FC, Simonson TS. Functional EPAS1/HIF2A missense variant is associated with hematocrit in Andean highlanders. Sci Adv 10(6):eadj5661, 2024. e-Pub 2024. PMID: 38335297.
- Hansen DK, Dhakal B, Hamadani M, Dingli D, Jain T, Huff CA, Janakiram M, Liu YH, De Braganca KC, Lodowski N, Sander J, Okorozo P, McFarland L, Perciavalle M, Huo S, Qureshi ZP, Patel KK. Clinician and administrator perspectives on outpatient administration of ciltacabtagene autoleucel in relapsed or refractory multiple myeloma. Front Immunol 15:1405452, 2024. e-Pub 2024. PMID: 38915401.
- Rios JJ, Li Y, Paria N, Bohlender RJ, Huff C, Rosenfeld JA, Liu P, Bi W, Haga K, Fukuda M, Vashisth S, Kaur K, Chahrour MH, Bober MB, Duker AL, Ladha FA, Hanchard NA, Atala K, Khanshour AM, Smith L, Wise CA, Delgado MR. RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation. Am J Hum Genet 110(12):2103-2111, 2023. e-Pub 2023. PMID: 37924809.
- Wang A, Shen J, Rodriguez AA, Saunders EJ, Chen F, Janivara R, Darst BF, Sheng X, Xu Y, Chou AJ, Benlloch S, Dadaev T, Brook MN, Plym A, Sahimi A, Hoffman TJ, Takahashi A, Matsuda K, Momozawa Y, Fujita M, Laisk T, Figuerêdo J, Muir K, Ito S, Liu X, Project BJ, Uchio Y, Kubo M, Kamatani Y, Lophatananon A, Wan P, Andrews C, Lori A, Choudhury PP, Schleutker J, Tammela TLJ, Sipeky C, Auvinen A, Giles GG, Southey MC, MacInnis RJ, Cybulski C, Wokolorczyk D, Lubinski J, Rentsch CT, Cho K, Mcmahon BH, Neal DE, Donovan JL, Hamdy FC, Martin RM, Nordestgaard BG, Nielsen SF, Weischer M, Bojesen SE, Røder A, Stroomberg HV, Batra J, Chambers S, Horvath L, Clements JA, Tilly W, Risbridger GP, Gronberg H, Aly M, Szulkin R, Eklund M, Nordstrom T, Pashayan N, Dunning AM, Ghoussaini M, Travis RC, Key TJ, Riboli E, Park JY, Sellers TA, Lin HY, Albanes D, Weinstein S, Cook MB, Mucci LA, Giovannucci E, Lindstrom S, Kraft P, Hunter DJ, Penney KL, Turman C, Tangen CM, Goodman PJ, Thompson IM, Hamilton RJ, Fleshner NE, Finelli A, MÉ P, Stanford JL, Ostrander EA, Koutros S, Beane Freeman LE, Stampfer M, Wolk A, Håkansson N, Andriole GL, Hoover RN, Machiela MJ, Sørensen KD, Borre M, Blot WJ, Zheng W, Yeboah ED, Mensah JE, Lu YJ, Zhang HW, Feng N, Mao X, Wu Y, Zhao SC, Sun Z, Thibodeau SN, McDonnell SK, Schaid DJ, West CML, Barnett G, Maier C, Schnoeller T, Luedeke M, Kibel AS, Drake BF, Cussenot O, Cancel-Tassin G, Menegaux F, Truong T, Koudou YA, John EM, Grindedal EM, Maehle L, Khaw KT, Ingles SA, Stern MC, Vega A, Gómez-Caamaño A, Fachal L, Rosenstein BS, Kerns SL, Ostrer H, Teixeira MR, Paulo P, Brandão A, Watya S, Lubwama A, Bensen JT, Butler EN, Mohler JL, Taylor JA, Kogevinas M, Dierssen-Sotos T, Castaño-Vinyals G, Cannon-Albright L, Teerlink CC, Huff CD, Pilie P, Yu Y, Bohlender RJ, Gu J, Strom SS, Multigner L, Blanchet P, Brureau L, Kaneva R, Slavov C, Mitev V, Leach RJ, Brenner H, Chen X, Holleczek B, Schöttker B, Klein EA, Hsing AW, Kittles RA, Murphy AB, Logothetis. Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants. Nature Genetics 55(12):2065-2074, 2023. e-Pub 2023. PMID: 37945903.
- Darst BF, Saunders E, Dadaev T, Sheng X, Wan P, Pooler L, Xia LY, Chanock S, Berndt SI, Wang Y, Patel AV, Albanes D, Weinstein SJ, Gnanapragasam V, Huff C, Couch FJ, Wolk A, Giles GG, Nguyen-Dumont T, Milne RL, Pomerantz MM, Schmidt JA, Travis RC, Key TJ, Stopsack KH, Mucci LA, Catalona WJ, Marosy B, Hetrick KN, Doheny KF, MacInnis RJ, Southey MC, Eeles RA, Wiklund F, Conti DV, Kote-Jarai Z, Haiman CA. Germline Sequencing Analysis to Inform Clinical Gene Panel Testing for Aggressive Prostate Cancer. JAMA Oncol 9(11):1514-1524, 2023. e-Pub 2023. PMID: 37733366.
- Darst, BF, Shen, J, Madduri, RK, Rodriguez, AA, Xiao, Y, Sheng, X, Saunders, EJ, Dadaev, T, Brook, MN, Hoffmann, TJ, Muir, K, Wan, P, Le Marchand, L, Wilkens, LR, Wang, Y, Schleutker, J, MacInnis, RJ, Cybulski, C, Neal, D, Nordestgaard, BG, Nielsen, SF, Batra, J, Clements, JA, Cancer BioResource, AP, Gronberg, H, Pashayan, N, Travis, RC, Park, JY, Albanes, D, Weinstein, SJ, Mucci, L, Hunter, DJ, Penney, KL, Tangen, CM, Hamilton, R, Parent, ME, Stanford, JL, Koutros, S, Wolk, A, Sorensen, KD, Blot, WJ, Yeboah, E, Mensah, JE, Lu, YJ, Schaid, DJ, Thibodeau, SN, West, CM, Brenner, H, Huff, C, Logothetis, CJ. Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry. American journal of human genetics 110(7):1200-1206, 2023. e-Pub 2023. PMID: 37311464.
- Chen F, Madduri RK, Rodriguez AA, Darst BF, Chou A, Sheng X, Wang A, Shen J, Saunders EJ, Rhie SK, Bensen JT, Ingles SA, Kittles RA, Strom SS, Rybicki BA, Nemesure B, Isaacs WB, Stanford JL, Zheng W, Sanderson M, John EM, Park JY, Xu J, Wang Y, Berndt SI, Huff CD, Yeboah ED, Tettey Y, Lachance J, Tang W, Rentsch CT, Cho K, Mcmahon BH, Biritwum RB, Adjei AA, Tay E, Truelove A, Niwa S, Sellers TA, Yamoah K, Murphy AB, Crawford DC, Patel AV, Bush WS, Aldrich MC, Cussenot O, Petrovics G, Cullen J, Neslund-Dudas CM, Stern MC, Kote-Jarai Z, Govindasami K, Cook MB, Chokkalingam AP, Hsing AW, Goodman PJ, Hoffmann TJ, Drake BF, Hu JJ, Keaton JM, Hellwege JN, Clark PE, Jalloh M, Gueye SM, Niang L, Ogunbiyi O, Idowu MO, Popoola O, Adebiyi AO, Aisuodionoe-Shadrach OI, Ajibola HO, Jamda MA, Oluwole OP, Nwegbu M, Adusei B, Mante S, Darkwa-Abrahams A, Mensah JE, Diop H, Van Den Eeden SK, Blanchet P, Fowke JH, Casey G, Hennis AJ, Lubwama A, Thompson IM, Leach R, Easton DF, Preuss MH, Loos RJ, Gundell SM, Wan P, Mohler JL, Fontham ET, Smith GJ, Taylor JA, Srivastava S, Eeles RA, Carpten JD, Kibel AS, Multigner L, MÉ P, Menegaux F, Cancel-Tassin G, Klein EA, Andrews C, Rebbeck TR, Brureau L, Ambs S, Edwards TL, Watya S, Chanock SJ, Witte JS, Blot WJ, Michael Gaziano J, Justice AC, Conti DV, Haiman CA. Evidence of Novel Susceptibility Variants for Prostate Cancer and a Multiancestry Polygenic Risk Score Associated with Aggressive Disease in Men of African Ancestry. Eur Urol 84(1):13-21, 2023. e-Pub 2023. PMID: 36872133.
- Martin-Giacalone BA, Richard MA, Scheurer ME, Khan J, Sok P, Shetty PB, Chanock SJ, Li SA, Yeager M, Marquez-Do DA, Barkauskas DA, Hall D, McEvoy MT, Brown AL, Sabo A, Scheet P, Huff CD, Skapek SX, Hawkins DS, Venkatramani R, Mirabello L, Lupo PJ. Germline genetic variants and pediatric rhabdomyosarcoma outcomes: a report from the Children's Oncology Group. J Natl Cancer Inst 115(6):733-741, 2023. e-Pub 2023. PMID: 36951526.
- Xu A, Liu M, Huang MF, Zhang Y, Hu R, Gingold JA, Liu Y, Zhu D, Chien CS, Wang WC, Liao Z, Yuan F, Hsu CW, Tu J, Yu Y, Rosen T, Xiong F, Jia P, Yang YP, Bazer DA, Chen YW, Li W, Huff CD, Zhu JJ, Aguilo F, Chiou SH, Boles NC, Lai CC, Hung MC, Zhao Z, Van Nostrand EL, Zhao R, Lee DF. Rewired m6A epitranscriptomic networks link mutant p53 to neoplastic transformation. Nature communications 14(1):1694, 2023. e-Pub 2023. PMID: 36973285.
- Wang A, Xu Y, Yu Y, Nead KT, Kim T, Xu K, Dadaev T, Saunders E, Sheng X, Wan P, Pooler L, Xia LY, Chanock S, Berndt SI, Gapstur SM, Stevens V, Albanes D, Weinstein SJ, Gnanapragasam V, Giles GG, Nguyen-Dumont T, Milne RL, Pomerantz MM, Schmidt JA, Stopsack KH, Mucci LA, Catalona WJ, Hetrick KN, Doheny KF, MacInnis RJ, Southey MC, Eeles RA, Wiklund F, Kote-Jarai Z, de Smith AJ, Conti DV, Huff C, Haiman CA, Darst BF. Clonal hematopoiesis and risk of prostate cancer in large samples of European ancestry men. Hum Mol Genet 32(3):489-495, 2023. e-Pub 2023. PMID: 36018819.
- DeVries AA, Dennis J, Tyrer JP, Peng PC, Coetzee SG, Reyes AL, Plummer JT, Davis BD, Chen SS, Dezem FS, Aben KKH, Anton-Culver H, Antonenkova NN, Beckmann MW, Beeghly-Fadiel A, Berchuck A, Bogdanova NV, Bogdanova-Markov N, Brenton JD, Butzow R, Campbell I, Chang-Claude J, Chenevix-Trench G, Cook LS, DeFazio A, Doherty JA, Dörk T, Eccles DM, Eliassen AH, Fasching PA, Fortner RT, Giles GG, Goode EL, Goodman MT, Gronwald J, Group OS, Group A, Håkansson N, Hildebrandt MAT, Huff C, Huntsman DG, Jensen A, Kar S, Karlan BY, Khusnutdinova EK, Kiemeney LA, Kjaer SK, Kupryjanczyk J, Labrie M, Lambrechts D, Le ND, Lubinski J, May T, Menon U, Milne RL, Modugno F, Monteiro AN, Moysich KB, Odunsi K, Olsson H, Pearce CL, Pejovic T, Ramus SJ, Riboli E, Riggan MJ, Romieu I, Sandler DP, Schildkraut JM, Setiawan VW, Sieh W, Song H, Sutphen R, Terry KL, Thompson PJ, Titus L, Tworoger SS, Van Nieuwenhuysen E, Edwards DV, Webb PM, Wentzensen N, Whittemore AS, Wolk A, Wu AH, Ziogas A, Freedman ML, Lawrenson K, Pharoah PDP, Easton DF, Gayther SA, Jones MR. Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci. J Natl Cancer Inst 114(11):1533-1544, 2022. e-Pub 2022. PMID: 36210504.
- Strati P, Jallouk AP, Sun R, Choi J, Das K, Cherng HJ, Ahmed S, Lee HJ, Iyer SP, Nair R, Nastoupil LJ, Steiner RE, Huff CD, Yu Y, Mistry H, Pulsifer B, Noorani M, Saini N, Shpall EJ, Kebriaei P, Flowers CR, Westin JR, Hildebrandt MAT, Neelapu SS. Impact of conditioning chemotherapy on lymphocyte kinetics and outcomes in LBCL patients treated with CAR T-cell therapy. Leukemia 36(11):2669-2677, 2022. e-Pub 2022. PMID: 36127509.
- Yu Y, Alvarado R, Petty LE, Bohlender RJ, Shaw DM, Below JE, Bejar N, Ruiz OE, Tandon B, Eisenhoffer GT, Kiss DL, Huff CD, Letra A, Hecht JT. Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate. Hum Mol Genet 31(14):2348-2357, 2022. e-Pub 2022. PMID: 35147171.
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- Tu J, Huo Z, Yu Y, Zhu D, Xu A, Huang MF, Hu R, Wang R, Gingold JA, Chen YH, Tsai KL, Forcioli-Conti NR, Huang SXL, Webb TR, Su J, Bazer DA, Jia P, Yustein JT, Wang LL, Hung MC, Zhao Z, Huff CD, Shen J, Zhao R, Lee DF. Hereditary retinoblastoma iPSC model reveals aberrant spliceosome function driving bone malignancies. Proc Natl Acad Sci U S A 119(16):e2117857119, 2022. e-Pub 2022. PMID: 35412907.
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- Yu Y, Chang K, Chen JS, Bohlender RJ, Fowler J, Zhang D, Huang M, Chang P, Li Y, Wong J, Wang H, Gu J, Wu X, Schildkraut J, Cannon-Albright L, Ye Y, Zhao H, Hildebrandt MAT, Permuth JB, Li D, Scheet P, Huff CD. A whole-exome case-control association study to characterize the contribution of rare coding variation to pancreatic cancer risk. HGG Adv 3(1):100078, 2022. e-Pub 2022. PMID: 35047863.
- Karlsson Q, Brook MN, Dadaev T, Wakerell S, Saunders EJ, Muir K, Neal DE, Giles GG, MacInnis RJ, Thibodeau SN, McDonnell SK, Cannon-Albright L, Teixeira MR, Paulo P, Cardoso M, Huff C, Li D, Yao Y, Scheet P, Permuth JB, Stanford JL, Dai JY, Ostrander EA, Cussenot O, Cancel-Tassin G, Hoegel J, Herkommer K, Schleutker J, Tammela TLJ, Rathinakannan V, Sipeky C, Wiklund F, Grönberg H, Aly M, Isaacs WB, Dickinson JL, FitzGerald LM, Chua MLK, Nguyen-Dumont T, Consortium P, Schaid DJ, Southey MC, Eeles RA, Kote-Jarai Z. Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study. Eur Urol Oncol 4(4):570-579, 2021. e-Pub 2021. PMID: 33436325.
- Puvvula PK, Yu Y, Sullivan KR, Eyob H, Rosenberg J, Welm A, Huff C, Moon AM. Inhibiting an RBM39/MLL1 epigenomic regulatory complex with dominant-negative peptides disrupts cancer cell transcription and proliferation. Cell Rep 35(9):109156, 2021. e-Pub 2021. PMID: 34077726.
- Petty LE, Phillippi-Falkenstein K, Kubisch HM, Raveendran M, Harris RA, Vallender EJ, Huff CD, Bohm RP, Rogers J, Below JE. Pedigree reconstruction and distant pairwise relatedness estimation from genome sequence data: A demonstration in a population of rhesus macaques (Macaca mulatta). Mol Ecol Resour 21(4):1333-1346, 2021. e-Pub 2021. PMID: 33386679.
- Song H, Dicks EM, Tyrer J, Intermaggio M, Chenevix-Trench G, Bowtell DD, Traficante N, Group A, Brenton J, Goranova T, Hosking K, Piskorz A, van Oudenhove E, Doherty J, Harris HR, Rossing MA, Duerst M, Dork T, Bogdanova NV, Modugno F, Moysich K, Odunsi K, Ness R, Karlan BY, Lester J, Jensen A, Krüger Kjaer S, Høgdall E, Campbell IG, Lázaro C, Pujara MA, Cunningham J, Vierkant R, Winham SJ, Hildebrandt M, Huff C, Li D, Wu X, Yu Y, Permuth JB, Levine DA, Schildkraut JM, Riggan MJ, Berchuck A, Webb PM, Group OS, Cybulski C, Gronwald J, Jakubowska A, Lubinski J, Alsop J, Harrington P, Chan I, Menon U, Pearce CL, Wu AH, de Fazio A, Kennedy CJ, Goode E, Ramus S, Gayther S, Pharoah P. Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer. J Med Genet 58(5):305-313, 2021. e-Pub 2021. PMID: 32546565.
- Graff M, Justice AE, Young KL, Marouli E, Zhang X, Fine RS, Lim E, Buchanan V, Rand K, Feitosa MF, Wojczynski MK, Yanek LR, Shao Y, Rohde R, Adeyemo AA, Aldrich MC, Allison MA, Ambrosone CB, Ambs S, Amos C, Arnett DK, Atwood L, Bandera EV, Bartz T, Becker DM, Berndt SI, Bernstein L, Bielak LF, Blot WJ, Bottinger EP, Bowden DW, Bradfield JP, Brody JA, Broeckel U, Burke G, Cade BE, Cai Q, Caporaso N, Carlson C, Carpten J, Casey G, Chanock SJ, Chen G, Chen M, Chen YI, Chen WM, Chesi A, Chiang CWK, Chu L, Coetzee GA, Conti DV, Cooper RS, Cushman M, Demerath E, Deming SL, Dimitrov L, Ding J, Diver WR, Duan Q, Evans MK, Falusi AG, Faul JD, Fornage M, Fox C, Freedman BI, Garcia M, Gillanders EM, Goodman P, Gottesman O, Grant SFA, Guo X, Hakonarson H, Haritunians T, Harris TB, Harris CC, Henderson BE, Hennis A, Hernandez DG, Hirschhorn JN, McNeill LH, Howard TD, Howard B, Hsing AW, Hsu YH, Hu JJ, Huff CD, Huo D, Ingles SA, Irvin MR, John EM, Johnson KC, Jordan JM, Kabagambe EK, Kang SJ, Kardia SL, Keating BJ, Kittles RA, Klein EA, Kolb S, Kolonel LN, Kooperberg C, Kuller L, Kutlar A, Lange L, Langefeld CD, Le Marchand L, Leonard H, Lettre G, Levin AM, Li Y, Li J, Liu Y, Liu Y, Liu S, Lohman K, Lotay V, Lu Y, Maixner W, Manson JE, McKnight B, Meng Y, Monda KL, Monroe K, Moore JH, Mosley TH, Mudgal P, Murphy AB, Nadukuru R, Nalls MA, Nathanson KL, Nayak U, N'Diaye A, Nemesure B, Neslund-Dudas C, Neuhouser ML, Nyante S, Ochs-Balcom H, Ogundiran TO, Ogunniyi A, Ojengbede O, Okut H, Olopade OI, Olshan A, Padhukasahasram B, Palmer J, Palmer CD, Palmer ND, Papanicolaou G, Patel SR, Pettaway CA, Peyser PA, Press MF, Rao DC, Rasmussen-Torvik LJ, Redline S, Reiner AP, Rhie SK, Rodriguez-Gil JL, Rotimi CN, Rotter JI, Ruiz-Narvaez EA, Rybicki BA, Salako B, Sale MM, Sanderson M, Schadt E, Schreiner PJ, Schurmann C, Schwartz AG, Shriner DA, Signorello LB, Singleton AB, Siscovick DS, Smith JA, Smith S, Speliotes E, Spitz M, Stanford JL, Stevens VL, Stram A, Strom SS, Sucheston L, Sun YV. Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. Am J Hum Genet 108(4):564-582, 2021. e-Pub 2021. PMID: 33713608.
- Hu F, Yu Y, Chen JS, Hu H, Scheet P, Huff CD. Integrated case-control and somatic-germline interaction analyses of soft-tissue sarcoma. J Med Genet 58(3):145-153, 2021. e-Pub 2021. PMID: 32447321.
- Conti DV, Darst BF, Moss LC, Saunders EJ, Sheng X, Chou A, Schumacher FR, Olama AAA, Benlloch S, Dadaev T, Brook MN, Sahimi A, Hoffmann TJ, Takahashi A, Matsuda K, Momozawa Y, Fujita M, Muir K, Lophatananon A, Wan P, Le Marchand L, Wilkens LR, Stevens VL, Gapstur SM, Carter BD, Schleutker J, Tammela TLJ, Sipeky C, Auvinen A, Giles GG, Southey MC, MacInnis RJ, Cybulski C, Wokolorczyk D, Lubinski J, Neal DE, Donovan JL, Hamdy FC, Martin RM, Nordestgaard BG, Nielsen SF, Weischer M, Bojesen SE, Røder MA, Iversen P, Batra J, Chambers S, Moya L, Horvath L, Clements JA, Tilley W, Risbridger GP, Gronberg H, Aly M, Szulkin R, Eklund M, Nordström T, Pashayan N, Dunning AM, Ghoussaini M, Travis RC, Key TJ, Riboli E, Park JY, Sellers TA, Lin HY, Albanes D, Weinstein SJ, Mucci LA, Giovannucci E, Lindstrom S, Kraft P, Hunter DJ, Penney KL, Turman C, Tangen CM, Goodman PJ, Thompson IM, Hamilton RJ, Fleshner NE, Finelli A, MÉ P, Stanford JL, Ostrander EA, Geybels MS, Koutros S, Freeman LEB, Stampfer M, Wolk A, Håkansson N, Andriole GL, Hoover RN, Machiela MJ, Sørensen KD, Borre M, Blot WJ, Zheng W, Yeboah ED, Mensah JE, Lu YJ, Zhang HW, Feng N, Mao X, Wu Y, Zhao SC, Sun Z, Thibodeau SN, McDonnell SK, Schaid DJ, West CML, Burnet N, Barnett G, Maier C, Schnoeller T, Luedeke M, Kibel AS, Drake BF, Cussenot O, Cancel-Tassin G, Menegaux F, Truong T, Koudou YA, John EM, Grindedal EM, Maehle L, Khaw KT, Ingles SA, Stern MC, Vega A, Gómez-Caamaño A, Fachal L, Rosenstein BS, Kerns SL, Ostrer H, Teixeira MR, Paulo P, Brandão A, Watya S, Lubwama A, Bensen JT, Fontham ETH, Mohler J, Taylor JA, Kogevinas M, Llorca J, Castaño-Vinyals G, Cannon-Albright L, Teerlink CC, Huff CD, Strom SS, Multigner L, Blanchet P, Brureau L, Kaneva R, Slavov C, Mitev V, Leach RJ, Weaver B, Brenner H, Cuk K, Holleczek B, Saum KU, Klein EA, Hsing AW, Kittles RA, Murphy AB, Logothetis CJ, Kim J, Neuhausen SL, Steele L, Ding YC, Isaacs WB, Nemesure B, Hennis AJM, Carpten J, Pandha H, Michael A, De Ruyck K, Meer D. Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction. Nat Genet 53(3):413, 2021. e-Pub 2021. PMID: 33473200.
- Huynh-Le MP, Fan CC, Karunamuni R, Thompson WK, Martinez ME, Eeles RA, Kote-Jarai Z, Muir K, Schleutker J, Pashayan N, Batra J, Grönberg H, Neal DE, Donovan JL, Hamdy FC, Martin RM, Nielsen SF, Nordestgaard BG, Wiklund F, Tangen CM, Giles GG, Wolk A, Albanes D, Travis RC, Blot WJ, Zheng W, Sanderson M, Stanford JL, Mucci LA, West CML, Kibel AS, Cussenot O, Berndt SI, Koutros S, Sørensen KD, Cybulski C, Grindedal EM, Menegaux F, Khaw KT, Park JY, Ingles SA, Maier C, Hamilton RJ, Thibodeau SN, Rosenstein BS, Lu YJ, Watya S, Vega A, Kogevinas M, Penney KL, Huff C, Teixeira MR, Multigner L, Leach RJ, Cannon-Albright L, Brenner H, John EM, Kaneva R, Logothetis CJ, Neuhausen SL, De Ruyck K, Pandha H, Razack A, Newcomb LF, Fowke JH, Gamulin M, Usmani N, Claessens F, Gago-Dominguez M, Townsend PA, Bush WS, Roobol MJ, MÉ P, Hu JJ, Mills IG, Andreassen OA, Dale AM, Seibert TM, collaborators U, APCB, Investigators NP, Steering Committee IS, Collaborators, Investigators CP, Steering Committee PS, Consortium P. Polygenic hazard score is associated with prostate cancer in multi-ethnic populations. Nat Commun 12(1):1236, 2021. e-Pub 2021. PMID: 33623038.
- Chen HH, Shaw DM, Petty LE, Graff M, Bohlender RJ, Polikowsky HG, Zhong X, Kim D, Buchanan VL, Preuss MH, Shuey MM, Loos RJF, Huff CD, Cox NJ, Bastarache JA, Bastarache L, North KE, Below JE. Host genetic effects in pneumonia. Am J Hum Genet 108(1):194-201, 2021. e-Pub 2021. PMID: 33357513.
- Conti DV, Darst BF, Moss LC, Saunders EJ, Sheng X, Chou A, Schumacher FR, Olama AAA, Benlloch S, Dadaev T, Brook MN, Sahimi A, Hoffmann TJ, Takahashi A, Matsuda K, Momozawa Y, Fujita M, Muir K, Lophatananon A, Wan P, Le Marchand L, Wilkens LR, Stevens VL, Gapstur SM, Carter BD, Schleutker J, Tammela TLJ, Sipeky C, Auvinen A, Giles GG, Southey MC, MacInnis RJ, Cybulski C, Wokolorczyk D, Lubinski J, Neal DE, Donovan JL, Hamdy FC, Martin RM, Nordestgaard BG, Nielsen SF, Weischer M, Bojesen SE, Røder MA, Iversen P, Batra J, Chambers S, Moya L, Horvath L, Clements JA, Tilley W, Risbridger GP, Gronberg H, Aly M, Szulkin R, Eklund M, Nordström T, Pashayan N, Dunning AM, Ghoussaini M, Travis RC, Key TJ, Riboli E, Park JY, Sellers TA, Lin HY, Albanes D, Weinstein SJ, Mucci LA, Giovannucci E, Lindstrom S, Kraft P, Hunter DJ, Penney KL, Turman C, Tangen CM, Goodman PJ, Thompson IM, Hamilton RJ, Fleshner NE, Finelli A, MÉ P, Stanford JL, Ostrander EA, Geybels MS, Koutros S, Freeman LEB, Stampfer M, Wolk A, Håkansson N, Andriole GL, Hoover RN, Machiela MJ, Sørensen KD, Borre M, Blot WJ, Zheng W, Yeboah ED, Mensah JE, Lu YJ, Zhang HW, Feng N, Mao X, Wu Y, Zhao SC, Sun Z, Thibodeau SN, McDonnell SK, Schaid DJ, West CML, Burnet N, Barnett G, Maier C, Schnoeller T, Luedeke M, Kibel AS, Drake BF, Cussenot O, Cancel-Tassin G, Menegaux F, Truong T, Koudou YA, John EM, Grindedal EM, Maehle L, Khaw KT, Ingles SA, Stern MC, Vega A, Gómez-Caamaño A, Fachal L, Rosenstein BS, Kerns SL, Ostrer H, Teixeira MR, Paulo P, Brandão A, Watya S, Lubwama A, Bensen JT, Fontham ETH, Mohler J, Taylor JA, Kogevinas M, Llorca J, Castaño-Vinyals G, Cannon-Albright L, Teerlink CC, Huff CD, Strom SS, Multigner L, Blanchet P, Brureau L, Kaneva R, Slavov C, Mitev V, Leach RJ, Weaver B, Brenner H, Cuk K, Holleczek B, Saum KU, Klein EA, Hsing AW, Kittles RA, Murphy AB, Logothetis CJ, Kim J, Neuhausen SL, Steele L, Ding YC, Isaacs WB, Nemesure B, Hennis AJM, Carpten J, Pandha H, Michael A, De Ruyck K, Meer D. Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction. Nat Genet 53(1):65-75, 2021. e-Pub 2021. PMID: 33398198.
- Darst BF, Wan P, Sheng X, Bensen JT, Ingles SA, Rybicki BA, Nemesure B, John EM, Fowke JH, Stevens VL, Berndt SI, Huff CD, Strom SS, Park JY, Zheng W, Ostrander EA, Walsh PC, Srivastava S, Carpten J, Sellers TA, Yamoah K, Murphy AB, Sanderson M, Crawford DC, Gapstur SM, Bush WS, Aldrich MC, Cussenot O, Yeager M, Petrovics G, Cullen J, Neslund-Dudas C, Kittles RA, Xu J, Stern MC, Kote-Jarai Z, Govindasami K, Chokkalingam AP, Multigner L, Parent ME, Menegaux F, Cancel-Tassin G, Kibel AS, Klein EA, Goodman PJ, Drake BF, Hu JJ, Clark PE, Blanchet P, Casey G, Hennis AJM, Lubwama A, Thompson IM, Leach R, Gundell SM, Pooler L, Xia L, Mohler JL, Fontham ETH, Smith GJ, Taylor JA, Eeles RA, Brureau L, Chanock SJ, Watya S, Stanford JL, Mandal D, Isaacs WB, Cooney K, Blot WJ, Conti DV, Haiman CA. A Germline Variant at 8q24 Contributes to Familial Clustering of Prostate Cancer in Men of African Ancestry. Eur Urol 78(3):316-320, 2020. e-Pub 2020. PMID: 32409115.
- Thompson BA, Snow AK, Koptiuch C, Kohlmann WK, Mooney R, Johnson S, Huff CD, Yu Y, Teerlink CC, Feng BJ, Neklason DW, Cannon-Albright LA, Tavtigian SV. A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis. Clin Genet 97(6):943-944, 2020. e-Pub 2020. PMID: 32424863.
- Du Z, Hopp H, Ingles SA, Huff C, Sheng X, Weaver B, Stern M, Hoffmann TJ, John EM, Van Den Eeden SK, Strom S, Leach RJ, Thompson IM, Witte JS, Conti DV, Haiman CA. A genome-wide association study of prostate cancer in Latinos. Int J Cancer 146(7):1819-1826, 2020. e-Pub 2020. PMID: 31226226.
- Wu X, Wen CP, Ye Y, Tsai M, Wen C, Roth JA, Pu X, Chow WH, Huff C, Cunningham S, Huang M, Wu S, Tsao CK, Gu J, Lippman SM. Author Correction: Personalized Risk Assessment in Never, Light, and Heavy Smokers in a prospective cohort in Taiwan. Sci Rep 10(1):5514, 2020. e-Pub 2020. PMID: 32251345.
- Jakubek YA, Chang K, Sivakumar S, Yu Y, Giordano MR, Fowler J, Huff CD, Kadara H, Vilar E, Scheet P. Large-scale analysis of acquired chromosomal alterations in non-tumor samples from patients with cancer. Nat Biotechnol 38(1):90-96, 2020. e-Pub 2020. PMID: 31685958.
- Delisle BP, Yu Y, Puvvula P, Hall AR, Huff C, Moon AM. Tbx3-Mediated Regulation of Cardiac Conduction System Development and Function: Potential Contributions of Alternative RNA Processing. Pediat Cardiol 40(7):1388-1400, 2019. e-Pub 2019. PMID: 31372681.
- Voskanian A, Katsonis P, Lichtarge O, Pejaver V, Radivojac P, Mooney SD, Capriotti E, Bromberg Y, Wang Y, Miller M, Martelli PL, Savojardo C, Babbi G, Casadio R, Cao Y, Sun Y, Shen Y, Garg A, Pal D, Yu Y, Huff CD Tavtigian SV, Young E, Neuhausen SL, Ziv E, Pal LR, Andreoletti G, Brenner SE, Kann MG. Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer. Hum Mutat 40(9):1612-1622, 2019. e-Pub 2019. PMID: 31241222.
- Williams LB, Javed A, Sabri A, Morgan DJ, Huff CD, Grigg JR, Heng XT, Khng AJ, IHIM H, Morrison MA, Owen LA, Anderson K, Kinard K, Greenlees R, Novacic D, Nida Sen H, Zein WM, Rodgers GM, Vitale AT, Haider NB, Hillmer AM, Ng PC, Shankaracharya, Cheng A, Zheng L, Gillies MC, van Slegtenhorst M, van Hagen PM, TOAR M, Farley GL, Polo M, Malatack J, Curtin J, Martin F, Arbuckle S, Alexander SI, Chircop M, Davila S, Digre KB, Jamieson RV, DeAngelis MM. ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. Genet Med 21(9):2103-2115, 2019. e-Pub 2019. PMID: 30967659.
- Lupo PJ, Schraw JM, Desrosiers TA, Nembhard WN, Langlois PH, Canfield MA, Copeland G, Meyer RE, Brown AL, Chambers TM, Sok P, Danysh HE, Carozza SE, Sisoudiya SD, Hilsenbeck SG, Janitz AE, Oster ME, Scheuerle AE, Schiffman JD, Luo C, Mian A, Mueller BA, Huff CD, Rasmussen SA, Scheurer ME, Plon SE. Association Between Birth Defects and Cancer Risk Among Children and Adolescents in a Population-Based Assessment of 10 Million Live Births. JAMA Oncol 5(8):1150-1158, 2019. e-Pub 2019. PMID: 31219523.
- Petty LE, Highland HM, Gamazon ER, Hu H, Karhade M, Chen HH, de Vries PS, Grove ML, Aguilar D, Bell GI, Huff CD, Hanis CL, Doddapaneni H, Munzy DM, Gibbs RA, Ma J, Parra EJ, Cruz M, Valladares-Salgado A, Arking DE, Barbeira A, Im HK, Morrison AC, Boerwinkle E, Below JE. Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample. Hum Mol Genet 28(7):1212-1224, 2019. e-Pub 2019. PMID: 30624610.
- Adam L, San Lucas FA, Fowler R, Yu Y, Wu W, Liu Y, Wang H, Menter D, Tetzlaff MT, Ensor J, Manyam G, Arold ST, Huff C, Kopetz S, Scheet P, Overman MJ. DNA Sequencing of Small Bowel Adenocarcinomas Identifies Targetable Recurrent Mutations in the ERBB2 Signaling Pathway. Clin Cancer Res 25(2):641-651, 2019. e-Pub 2019. PMID: 30352910.
- Teerlink CC, Huff C, Stevens J, Yu Y, Holmen SL, Silvis MR, Trombetti K, Zhao H, Grossman D, Farnham JM, Wen J, Facelli JC, Thomas A, Babst M, Florell SR, Meyer L, Zone JJ, Leachman S, Cannon-Albright LA. A Nonsynonymous Variant in the GOLM1 Gene in Cutaneous Malignant Melanoma. J Natl Cancer Inst 110(12):1380-1385, 2018. e-Pub 2018. PMID: 29659923.
- Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskait? Z, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J, Consortium SGP, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff CD, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O’Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JR, Jackson AP. DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency. Am J hum Genet 103(6):1038-1044, 2018. e-Pub 2018.
- Chen JS, Hu F, Kugathasan S, Jorde LB, Nix D, Rutherford A, Denson L, Watkins WS, Prahalad S, Huff C, Guthery SL. Targeted Gene Sequencing in Children with Crohn's Disease and Their Parents: Implications for Missing Heritability. G3 (Bethesda) 8(9):2881-2888, 2018. e-Pub 2018. PMID: 30166421.
- Vickrey AI, Bruders R, Kronenberg Z, Mackey E, Bohlender RJ, Maclary ET, Maynez R, Osborne EJ, Johnson KP, HUff CD, Yandell M, Shapiro MD. Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon. Elife 7, 2018. e-Pub 2018. PMID: 30014848.
- Lin SH, Raju GS, Huff C, Ye Y, Gu J, Chen JS, Hildebrandt MAT, Liang H, Menter DG, Morris J, Hawk E, Stroehlein JR, Futreal A, Kopetz S, Mishra L, Wu X. The somatic mutation landscape of premalignant colorectal adenoma. Gut 67(7):1299-1305, 2018. e-Pub 2018. PMID: 28607096.
- Yu Y, Hu H, Chen JS, Hu F, Fowler J, Scheet P, Zhao H, Huff CD. Integrated case-control and somatic-germline interaction analyses of melanoma susceptibility genes. Biochim Biophys Acta 1864(6 Pt B):2247-2254, 2018. e-Pub 2018. PMID: 29317335.
- Yu Y, Hu H, Bohlender RJ, Hu F, Chen JS, Holt C, Fowler J, Guthery SL, Scheet P, Hildebrandt MAT, Yandell M, Huff CD. XPAT: A toolkit to conduct cross-platform association studies with heterogeneous sequencing datasets. Nucleic Acids Res 46(6):e32, 2018. e-Pub 2018. PMID: 29294048.
- Flygare S, Hernandez EJ, Phan L, Moore B, Li M, Fejes A, Hu H, Eilbeck K, Huff C, Jorde L, G Reese M, Yandell M. The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool. BMC Bioinformatics 19(1):57, 2018. e-Pub 2018. PMID: 29463208.
- Rogers AR, Bohlender RJ, Huff CD. Reply to Mafessoni and Prüfer: Inferences with and without singleton site patterns. Proc Natl Acad Sci U S A 114(48):E10258-E10260, 2017. e-Pub 2017. PMID: 29138325.
- Rogers AR, Bohlender RJ, Huff CD. Early history of Neanderthals and Denisovans. Proc Natl Acad Sci U S A 114(37):9859-9863, 2017. e-Pub 2017. PMID: 28784789.
- Tashi T, Scott Reading N, Wuren T, Zhang X, Moore LG, Hu H, Tang F, Shestakova A, Lorenzo F, Burjanivova T, Koul P, Guchhait P, Wittwer CT, Julian CG, Shah B, Huff CD, Gordeuk VR, Prchal JT, Ge R. Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2α) polymorphism lowers hemoglobin concentration in Tibetan highlanders. J Mol Med (Berl) 95(6):665-670, 2017. e-Pub 2017. PMID: 28233034.
- Shen J, Song R, Wan J, Huff C, Fang S, Lee JE, Zhao H. Global methylation of blood leukocyte DNA and risk of melanoma. Int J Cancer 140(7):1503-1509, 2017. e-Pub 2017. PMID: 28006848.
- Hu H, Petousi N, Glusman G, Yu Y, Bohlender R, Tashi T, Downie JM, Roach JC, Cole AM, Lorenzo FR, Rogers AR, Brunkow ME, Cavalleri G, Hood L, Alpatty SM, Prchal JT, Jorde LB, Robbins PA, Simonson TS, Huff CD. Evolutionary history of Tibetans inferred from whole-genome sequencing. PLoS Genet 13(4):e1006675, 2017. e-Pub 2017. PMID: 28448578.
- Ng MCY, Graff M, Lu Y, Justice AE, Mudgal P, Liu CT, Young K, Yanek LR, Feitosa MF, Wojczynski MK, Rand K, Brody JA, Cade BE, Dimitrov L, Duan Q, Guo X, Lange LA, Nalls MA, Okut H, Tajuddin SM, Tayo BO, Vedantam S, Bradfield JP, Chen G, Chen WM, Chesi A, Irvin MR, Padhukasahasram B, Smith JA, Zheng W, Allison MA, Ambrosone CB, Bandera EV, Bartz TM, Berndt SI, Bernstein L, Blot WJ, Bottinger EP, Carpten J, Chanock SJ, Chen YI, Conti DV, Cooper RS, Fornage M, Freedman BI, Garcia M, Goodman PJ, Hsu YH, Hu J, Huff CD, Ingles SA, John EM, Kittles R, Klein E, Li J, McKnight B, Nayak U, Nemesure B, Ogunniyi A, Olshan A, Press MF, Rohde R, Rybicki BA, Salako B, Sanderson M, Shao Y, Siscovick DS, Stanford JL, Stevens VL, Stram A, Strom SS, Vaidya D, Witte JS, Yao J, Zhu X, Ziegler RG, Zonderman AB, Adeyemo A, Ambs S, Cushman M, Faul JD, Hakonarson H, Levin AM, Nathanson KL, Ware EB, Weir DR, Zhao W, Zhi D, Study Group BMDIC, Arnett DK, Grant SFA, Kardia SLR, Oloapde OI, Rao DC, Rotimi CN, Sale MM, Williams LK, Zemel BS, Becker DM, Borecki IB, Evans MK, Harris TB, Hirschhorn JN, Li Y, Patel SR, Psaty BM, Rotter JI, Wilson JG, Bowden DW, Cupples LA, Haiman CA, Loos RJF, North KE. Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium. PLoS Genet 13(4):e1006719, 2017. e-Pub 2017. PMID: 28430825.
- Lanikova L, Reading NS, Hu H, Tashi T, Burjanivova T, Shestakova A, Siwakoti B, Thakur BK, Pun CB, Sapkota A, Abdelaziz S, Feng BJ, Huff CD, Hashibe M, Prchal JT. Evolutionary selected Tibetan variants of HIF pathway and risk of lung cancer. Oncotarget 8(7):11739-11747, 2017. e-Pub 2017. PMID: 28036300.
- Wu X, Wen CP, Ye Y, Tsai M, Wen C, Roth JA, Pu X, Chow WH, Huff C, Cunningham S, Huang M, Wu S, Tsao CK, Gu J, Lippman SM. Personalized Risk Assessment in Never, Light, and Heavy Smokers in a prospective cohort in Taiwan. Sci Rep 6:36482, 2016. e-Pub 2016. PMID: 27805040.
- Hu H, Coon H, Li M, Yandell M, Huff CD. VARPRISM: incorporating variant prioritization in tests of de novo mutation association. Genome Med 8(1):91, 2016. e-Pub 2016. PMID: 27562213.
- Staples J, Witherspoon DJ, Jorde LB, Nickerson DA, Mendelian Genomics UOWCF, Below JE, Huff CD. PADRE: Pedigree-Aware Distant-Relationship Estimation. Am J Hum Genet 99(1):154-62, 2016. e-Pub 2016. PMID: 27374771.
- Shen J, Wan J, Huff C, Fang S, Lee JE, Zhao H. Mitochondrial DNA 4977-base pair common deletion in blood leukocytes and melanoma risk. Pigment Cell Melanoma Res 29(3):372-8, 2016. e-Pub 2016. PMID: 26988264.
- Simonson TS, Huff CD, Witherspoon DJ, Prchal JT, Jorde LB. Adaptive genetic changes related to hemoglobin concentration in native high-altitude Tibetans. Exp Physiol 100(11):1263-8, 2015. e-Pub 2015. PMID: 26454145.
- Brown EL, Below JE, Fischer RS, Essigmann HT, Hu H, Huff C, Robinson DA, Petty LE, Aguilar D, Bell GI, Hanis CL. Genome-Wide Association Study of Staphylococcus aureus Carriage in a Community-Based Sample of Mexican-Americans in Starr County, Texas. PLoS ONe 10:11, 2015. e-Pub 2015. PMID: 26569114.
- Ramasamy R, Bakircioglu ME, Cengiz C, Karaca E, Scovell J, Jhangiani SN, Akdemir ZC, Bainbridge M, Yu Y, Huff C, Gibbs RA, Lupski JR, Lamb DJ. Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia. Fertil Steril 104(2):286-91, 2015. e-Pub 2015. PMID: 25956372.
- Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR, Ptácek LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ. Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. PLoS One 10(5):e0127045, 2015. e-Pub 2015. PMID: 25996915.
- Hu H, Huff CD, Yamamura Y, Wu X, Strom SS. The Relationship between Native American Ancestry, Body Mass Index and Diabetes Risk among Mexican-Americans. PLoS One 10(10):e0141260, 2015. e-Pub 2015. PMID: 26501420.
- Lorenzo FR, Huff C, Myllymäki M, Olenchock B, Swierczek S, Tashi T, Gordeuk V, Wuren T, Ri-Li G, McClain DA, Khan TM, Koul PA, Guchhait P, Salama ME, Xing J, Semenza GL, Liberzon E, Wilson A, Simonson TS, Jorde LB, Kaelin WG, Koivunen P, Prchal JT, Author C. A genetic mechanism for Tibetan high-altitude adaptation. Nat Genet 46(9):951-6, 2014. e-Pub 2014. PMID: 25129147.
- Park DJ, Tao K, Le Calvez-Kelm F, Nguyen-Dumont T, Robinot N, Hammet F, Odefrey F, Tsimiklis H, Teo ZL, Thingholm LB, Young EL, Voegele C, Lonie A, Pope BJ, Roane TC, Bell R, Hu H, Shankaracharya, Huff CD, Ellis J, Li J, Makunin IV, John EM, Andrulis IL, Terry MB, Daly M, Buys SS, Snyder C, Lynch HT, Devilee P, Giles GG, Hopper JL, Feng BJ, Lesueur F, Tavtigian SV, Southey MC, Goldgar DE. Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers. Cancer Discov 4(7):804-15, 2014. e-Pub 2014. PMID: 25050558.
- Hu H, Roach JC, Coon H, Guthery SL, Voelkerding KV, Margraf RL, Durtschi JD, Tavtigian SV, Shankaracharya, Wu W, Scheet P, Wang S, Xing J, Glusman G, Hubley R, Li H, Garg V, Moore B, Hood L, Galas DJ, Srivastava D, Reese MG, Jorde LB, Yandell M, Huff CD. A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data. Nat Biotechnol 32(7):663-9, 2014. e-Pub 2014. PMID: 24837662.
- Singleton MV, Guthery SL, Voelkerding KV, Chen K, Kennedy B, Margraf RL, Durtschi J, Eilbeck K, Reese MG, Jorde LB, Huff CD, Yandell M. Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families. Am J Hum Genet 94(4):599-610, 2014. e-Pub 2014. PMID: 24702956.
- Li H, Glusman G, Hu H, Shankaracharya, Caballero J, Hubley R, Witherspoon D, Guthery SL, Mauldin DE, Jorde LB, Hood L, Roach JC, Huff CD. Relationship estimation from whole-genome sequence data. PLoS Genet 10(1):e1004144, 2014. e-Pub 2014. PMID: 24497848.
- Li H, Glusman G, Huff CD, Caballero J, Roach JC. Accurate and Robust Prediction of Genetic Relationship from Whole-genome Sequences. PLoS One 9(2):e85437, 2014. e-Pub 2014. PMID: 24586241.
- Wuren T, Simonson TS, Qin G, Xing J, Huff CD, Witherspoon DJ, Jorde LB, Ge RL. Shared and unique signals of high-altitude adaptation in geographically distinct Tibetan populations. PLoS One 9(3):e88252, 2014. e-Pub 2014. PMID: 24642866.
- Hu H, Huff CD. Detecting Statistical Interaction Between Somatic Mutational Events and Germline Variation from Next-Generation Sequence Data. Pac Symp Biocomput:51-62, 2014. e-Pub 2014. PMID: 24297533.
- Hu H, Huff CD, Moore B, Flygare S, Reese MG, Yandell M. VAAST 2.0: Improved Variant Classification and Disease-gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix. Genet Epidemiol 37(6):622-34, 2013. e-Pub 2013. PMID: 23836555.
- Xing J, Wuren T, Simonson TS, Watkins WS, Witherspoon DJ, Wu W, Qin G, Huff CD, Jorde LB, Ge RL. Genomic analysis of natural selection and phenotypic variation in high-altitude mongolians. PLoS Genet 9(7):e1003634, 2013. e-Pub 2013. PMID: 23874230.
- Tomasic NL, Piterkova L, Huff CH, Bilic E, Yoon D, Miasnikova GY, Sergueeva AI, Niu X, Nekhai S, Gordeuk V, Prchal JT. Polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation has a different phenotype than Chuvash polycythemia (VHL 598C>T:R200W). Haematologica 98(4):560-7, 2013. e-Pub 2013. PMID: 23403324.
- Shapiro MD, Kronenberg Z, Li C, Domyan ET, Pan H, Campbell M, Tan H, Huff CD, Hu H, Vickrey AI, Nielsen SC, Stringham SA, Willerslev E, Gilbert MT, Yandell M, Zhang G, Wang J. Genomic Diversity and Evolution of the Head Crest in the Rock Pigeon. Science 339(6123):1063-7, 2013. e-Pub 2013. PMID: 23371554.
- Coon H, Darlington T, Pimentel R, Smith KR, Huff CD, Hu H, Jerominski L, Hansen J, Klein M, Callor WB, Byrd J, Bakian A, Crowell SE, McMahon WM, Rajamanickam V, Camp NJ, McGlade E, Yurgelun-Todd D, Grey T, Gray D. Genetic Risk Factors in two Utah Pedigrees at High Risk for Suicide. Transl Psychiatry 3:e325, 2013. e-Pub 2013. PMID: 24252905.
- Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E, Genetics Consortium EAHOC, Nicole S, Gurrieri F, Neri G, de Vries B, Koelewijn S, Kamphorst J, Geilenkirchen M, Pelzer N, Laan L, Haan J, Ferrari M, van den Maagdenberg A, Alternante Consortium BERCPL, Zucca C, Bassi MT, Franchini F, Vavassori R, Giannotta M, Gobbi G, Granata T, Nardocci N, De Grandis E, Veneselli E, Stagnaro M, Gurrieri F, Neri G, Vigevano F, for Small ENFROAH, Consortium ME, Panagiotakaki E, Oechsler C, Arzimanoglou A, Nicole S, Giannotta M, Gobbi G, Ninan M, Neville B, Ebinger F, Fons C, Campistol J, Kemlink D, Nevsimalova S, Laan L, Peeters-Scholte C, van den Maagdenberg A, Casaer P, Casari G, Sange G, Spiel G, Martinelli Boneschi F, Zucca C, Bassi MT, Schyns T, Crawley F, Poncelin D, Vavassori R, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff CD, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptácek LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet 44(9):1030-4, 2012. e-Pub 2012. PMID: 22842232.
- Ge RL, Simonson TS, Cooksey RC, Tanna U, Qin G, Huff CD, Witherspoon DJ, Xing J, Zhengzhong B, Prchal JT, Jorde LB, McClain DA. Metabolic insight into mechanisms of high-altitude adaptation in Tibetans. Mol Genet Metab 106(2):244-7, 2012. e-Pub 2012. PMID: 22503288.
- Huff CD, Witherspoon DJ, Zhang Y, Gatenbee C, Denson LA, Kugathasan S, Hakonarson H, Whiting A, Davis CT, Wu W, Xing J, Watkins WS, Bamshad MJ, Bradfield JP, Bulayeva K, Simonson TS, Jorde LB, Guthery SL. Crohn's disease and genetic hitchhiking at IBD5. Mol Biol Evol 29(1):101-11, 2012. e-Pub 2012. PMID: 21816865.
- Watkins W S, Xing J, Huff CD, Witherspoon D, Zhang Y, Perego U, Woodward S, Jorde LB. Genetic analysis of ancestry, admixture and selection in Bolivian and Totonac populations of the New World. BMC Genetics 13(1):39, 2012. e-Pub 2012.
- Yandell M, Huff C, Hu H, Singleton M, Moore B, Xing J, Jorde LB, Reese MG. A probabilistic disease-gene finder for personal genomes. Genome Res 21(9):1529-42, 2011. e-Pub 2011. PMID: 21700766.
- Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, Fain HD, Robison R, Dalley B, Chin S, South ST, Pysher TJ, Jorde LB, Hakonarson H, Lillehaug JR, Biesecker LG, Yandell M, Arnesen T, Lyon GJ. Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet 89(1):28-43, 2011. e-Pub 2011. PMID: 21700266.
- Huff CD, Witherspoon DJ, Simonson TS, Xing J, Watkins WS, Zhang Y, Tuohy TM, Neklason DW, Burt RW, Guthery SL, Woodward SR, Jorde LB, Author C. Maximum-likelihood estimation of recent shared ancestry (ERSA). Genome Res 21(5):768-74, 2011. e-Pub 2011. PMID: 21324875.
- Stewart C, Kural D, Strömberg MP, Walker JA, Konkel MK, Stütz AM, Urban AE, Grubert F, Lam HYK, Lee WP, Busby M, Indap AR, Garrison E, Huff CD, Xing J, Snyder MP, Jorde LB, Batzer MA, Korbel JO, Marth GT, Project G. A comprehensive map of mobile element insertion polymorphisms in humans. PLoS Genetics 7(8):e1002236, 2011. e-Pub 2011.
- Simonson TS, Xing J, Barrett R, Jerah E, Loa P, Zhang Y, Watkins WS, Witherspoon DJ, Huff CD, Woodward S, Mowry B, Jorde LB. Ancestry of the Iban is predominantly Southeast Asian: genetic evidence from autosomal, mitochondrial, and Y chromosomes. PLoS One 6(1):e16338, 2011. e-Pub 2011. PMID: 21305013.
- Xing J, Watkins WS, Shlien A, Walker E, Huff CD, Witherspoon DJ, Zhang Y, Simonson TS, Weiss RB, Schiffman JD, Malkin D, Woodward SR, Jorde LB. Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping. Genomics 96(4):199-210, 2010. e-Pub 2010. PMID: 20643205.
- Simonson TS, Yang Y, Huff CD, Yun H, Qin G, Witherspoon DJ, Bai Z, Lorenzo FR, Xing J, Jorde LB, Prchal JT, Ge R. Genetic evidence for high-altitude adaptation in Tibet. Science 329(5987):72-5, 2010. e-Pub 2010. PMID: 20466884.
- Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ, Author C. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 328(5978):636-9, 2010. e-Pub 2010. PMID: 20220176.
- Simonson TS, Zhang Y, Huff CD, Xing J, Watkins WS, Witherspoon DJ, Woodward SR, Jorde LB. Limited distribution of a cardiomyopathy-associated variant in India. Ann Hum Genet 74(2):184-8, 2010. e-Pub 2010. PMID: 20201939.
- Huff CD, Xing J, Rogers AR, Witherspoon D, Jorde LB. Mobile elements reveal small population size in the ancient ancestors of Homo sapiens. Proc Natl Acad Sci U S A 107(5):2147-52, 2010. e-Pub 2010. PMID: 20133859.
- Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42(1):30-5, 2010. e-Pub 2010. PMID: 19915526.
- Huff CD, Harpending HC, Rogers AR. Detecting positive selection from genome scans of linkage disequilibrium. BMC Genomics 11:8, 2010. e-Pub 2010. PMID: 20051139.
- Xing J, Watkins WS, Hu Y, Huff CD, Sabo A, Muzny DM, Bamshad MJ, Gibbs RA, Jorde LB, Yu F. Genetic diversity in India and the inference of Eurasian population expansion. Genome Biol 11(11):R113, 2010. e-Pub 2010. PMID: 21106085.
- Xing J, Zhang Y, Han K, Salem AH, Sen SK, Huff CD, Zhou Q, Kirkness EF, Levy S, Batzer MA, Jorde LB. Mobile elements create structural variation: analysis of a complete human genome. Genome Res 19(9):1516-26, 2009. e-Pub 2009. PMID: 19439515.
- Smith SE, Hayes MG, Cabana GS, Huff CD, Coltrain JB, O'Rourke DH. Inferring population continuity versus replacement with a DNA: A cautionary tale from the Aleutian Islands. Hum Biol 81(4):407-726, 2009. e-Pub 2009.
- Rogers AR, Huff CD. Linkage disequilibrium between loci with unknown phase. Genetics 182:834-839, 2009. e-Pub 2009.
- Rogers AR, Wooding S, Huff CD, Batzer MA, Jorde LB. Ancestral alleles and population origins: inferences depend on mutation rate. Mol Biol Evol 24(4):990-7, 2007. e-Pub 2007. PMID: 17267423.
Invited Articles
- Kennedy B, Kronenbert Z, Hu H, Moore B, Flygare S, Reese MG, Jorde LB, Yandell M, Huff CD. Using VAAST to identify disease-associated variants in next generation sequencing data. Current Protocols in Human Genetics 81:6.14.1-6.14.25, 2014. e-Pub 2014.
Other Articles
- Plowman, JN, Matoy, EJ, Uppala, LV, Draves, SB, Watson, CJ, Sefranek, BA, Stacey, M, Anderson, SP, Belshan, MA, Blue, EE, Huff, C, Fu, Y, Stessman, HA Erratum. Human Genetics and Genomics Advances 6(3), 2025. PMID: 40411790.
- Hassan MM, Li D, Han Y, Byun J, Hatia RI, Long E, Choi J, Kelley RK, Cleary SP, Lok AS, Bracci P, Permuth JB, Bucur R, Yuan JM, Singal AG, Jalal PK, Ghobrial RM, Santella RM, Kono Y, Shah DP, Nguyen MH, Liu G, Parikh ND, Kim R, Wu HC, El-Serag H, Chang P, Li Y, Chun YS, Lee SS, Gu J, Hawk E, Sun R, Huff C, Rashid A, Amin HM, Beretta L, Wolff RA, Antwi SO, Patt Y, Hwang LY, Klein AP, Zhang K, Schmidt MA, White DL, Goss JA, Khaderi SA, Marrero JA, Cigarroa FG, Shah PK, Kaseb AO, Roberts LR, Amos CI Genome-wide association study identifies high-impact susceptibility loci for HCC in North America. Hepatology 80(1):87-101, 2024. PMID: 38381705.
- Lancaster MC, Chen HH, Shoemaker MB, Fleming MR, Baker JT, Evans G, Polikowsky HG, Samuels DC, Huff CD, Roden DM, Below JE Detection of distant relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome. Res Sq, 2023. PMID: 37790303.
- Dareng, EO, Tyrer, JP, Barnes, D, Jones, MR, Yang, X, Aben, KK, Adank, MA, Agata, S, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Aravantinos, G, Arun, BK, Augustinsson, A, Balmaña, J, Bandera, EV, Barkardottir, RB, Barrowdale, D, Beckmann, MW, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, MQ, Bjørge, L, Black, A, Bogdanova, NV, Bonanni, B, Borg, Å, Brenton, JD, Budzilowska, A, Butzow, R, Buys, S, Cai, H, Caligo, MA, Campbell, I, Cannioto, R, Cassingham, H, Chang-Claude, J, Chanock, SJ, Chen, K, Chiew, YE, Chung, WK, Claes, K, Colonna, S, Cook, LS, Couch, FJ, Hildebrandt, MA, Huff, C, Lu, KH, Sieh, W Correction to. European Journal of Human Genetics 30(5):630-631, 2022. PMID: 35314806.
Book Chapters
- Huff, CD. In: Selective sweep. The International Encyclopedia of Biological Anthropology, 1-4, 2018.
Patient Reviews
CV information above last modified March 30, 2026