Publications

publicationsAt Coriell, milestones are met daily and exciting new developments are nothing out of the ordinary for one of the nation's premier research institutions. As part of our pledge to communicate and collaborate with the international scientific community, Coriell's scientists and staff routinely contribute their findings to leading publications. Several articles are available below.

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Cell-line Authentication Demystified

Nature Methods, May 2014
Vivien Marx

Genetic Testing of Children for Predisposition to Mood Disorders: Anticipating the Clinical Issues

Journal of Genetic Counseling, March 2014
Erickson, JA; Kuzmich, L; Ormond, KE; Gordon, ES; Christman, MF; Cho, MK; Levinson, DF

Design and Implementation of a Randomized Controlled Trial of Genomic Counseling for Patients with Chronic Disease

Journal of Personalized Medicine, January 2014
Sweet, K; Gordon, ES; Sturm, AM; Schmidlen, TJ; Manickam, K; Toland, AE; Keller, MA; Stack, CB; García-España, JF; Bellafante, M; Tayal, N; Embi, P; Binkley, P; Hershberger, RE; Sadee, W; Christman, MF; Marsh, C

Personalized Genomic Results: Analysis of Informational Needs

Journal of Genetic Counseling, January 2014
Schmidlen, TJ; Wawak, L; Kasper, R; García-España, JF; Christman, MF; Gordon, ES

A Randomized Trial of the Clinical Utility of Genetic Testing for Obesity: Design and Implementation Considerations

Clinical Trials, November 2013
Wang, C; Gordon, ES; Stack, CB; Ching-Ti, L; Norkunas, T; Wawak, L; Christman, MF; Green, RC; Bowen, DJ

Translating Pharmacogenomics Discoveries Into the Clinic: An Implementation Framework

Genome Medicine, October 2013
Huang, RS; Gamazon, ER  

The Coriell Personalized Medicine Collaborative Pharmacogenomics Appraisal, Evidence Scoring and Interpretation System

Genome Medicine, October 2013
Gharani, N; Keller, MA; Stack, CB; Hodges, LM; Schmidlen, TJ; Lynch, DE; Gordon, ES; Christman, MF 

Recent Human Adaptation: Genomic Approaches, Interpretation and Insights

Nature Reviews Genetics, October 2013
Scheinfeldt, LB; Tishkoff, SA 

Association of Cerebrospinal Fluid β-Amyloid 1-42, T-tau, P-tau181, and α-Synuclein Levels With Clinical Features of Drug-Naive Patients With Early Parkinson Disease

JAMA Neurology, August 2013
Kang, JH; Irwin, DJ; Chen-Plotkin, AS; Siderowf, A; Caspell, C; Coffey, CS; Waligorska, T; Taylor, P; Pan, S; Frasier, M; Marek, K; Kieburtz, K; Jennings, D; Simuni, T; Tanner, CM; Singleton, A; Toga, AW; Chowdhurry, S; Mollenhauer, B; Trojanowski, JQ; Shaw, LM; Parkinson's Progression Markers Initiative

Preparedness For a Natural Disaster: How Coriell Planned For Hurricane Sandy

Biopreservation and Biobanking, August 2013
Mintzer, JL; Kronenthal, CJ; Kelly, V; Seneca, M; Butler, G; Fecenko-Tacka, K; Altamuro, D; Madore, SJ

Development of a Genomic DNA Reference Material Panel For Myotonic Dystrophy Type 1 (DM1) Genetic Testing

Journal of Molecular Diagnostics, July 2013
Kalman, L; Tarleton, J; Hitch, M; Hegde, M; Hjelm, N; Berry-Kravis, E; Zhou, L; Hilbert, JE; Luebbe, EA; Moxley III, RT; Toji, L

A Dynamic Database of Microarray-Characterized Cell Lines with Various Cytogenetic and Genomic Backgrounds

G3: Genes | Genomes | Genetics, May 2013
Tang, Z; Berlin, D; Toji, L; Toruner, GA; Beiswanger, C; Kulkarni, S; Martin, CL; Emanuel, BS; Christman, MF; Gerry, NP

An Integrated Map of Genetic Variation From 1,092 Human Genomes

Nature, November 2012
The 1000 Genomes Project Consortium 

Genome-wide Association Study Identifies Novel Loci Association with Fasting Insulin and Insulin Resistance in African Americans

Human Molecular Genetics, October 2012 
Chen, G; Bentley, A; Adeyemo, A; Shriner, D; Zhou, J; Doumatey, A; Huang, H; Ramos, E; Erdos, M; Gerry, N; Herbert, A; Christman, MF; Rotimi, CN 

Multiple Loci Associated with Renal Function in African Americans

PLOS ONE, September 2012
Shriner, D; Herbert, A; Doumatey, AP; Zhou, J; Huang, H; Erdos, MR; Chen, G; Gerry, NP; Christman, MF; Adeyemo, A; Rotimi, CN    

Incorporating Direct-to-consumer Genomic Information into Patient Care: Attitudes and Experiences of Primary Care Physicians

Personalized Medicine, September 2012
Bernhardt, BA; Zayac, C; Gordon, ES; Wawak, L; Pyeritz, RE; Gollust, SE

Transferability and Fine Mapping of Genome-wide Associated Loci for Lipids in African Americans 

BMC Medical Genetics, September 2012
Adeyemo, A; Bentley, AR; Meilleur, KG; Doumatey, AP; Chen, G; Zhou, J; Shriner, D; Huang, H; Herbert, A; Gerry, N; Christman, MF; Rotimi, CN

C-reactive Protein (CRP) Promoter Polymorphisms Influence Circulating CRP Levels in a Genome-wide Association Study of African Americans

Human Molecular Genetics, July 2012
Doumatey, AP; Chen, G; Tekola, Ayele F; Zhou, J; Erdos, M; Shriner, D; Huang, H; Adeleye, J; Balogun, W; Fasanmade, O; Johnson, T; Oli, J; Okafor, G; Amoah, A; Eghan, BA; Agyenim-Boateng, K; Acheampong, J; Adebamowo, C; Gerry, NP; Christman, MF; Adeyemo, A; Rotimi, CN

Chromosomal Variation in Lymphoblastoid Cell Lines

Human Mutation, July 2012
Shirley, MD; Baugher, JD; Stevens, EL; Tang, Z; Gerry, N;, Beiswanger, CM; Berlin, DS; Pevsner, J

"It's Not Like Judgment Day": Public Understanding of and Reactions to Personalized Genomic Risk Information

Journal of Genetic Counseling, June 2012
Gordon, ES; Griffin, G; Wawak, L; Pang, H; Gollust, SE; Bernhardt, BA

Genome-wide Associated Loci Influencing Interleukin (IL)-10, IL-1Ra, and IL-6 Levels in African Americans

Immunogenetics, May 2012
Ayele, FT; Doumatey, A; Huang, H; Zhou, J; Charles, B; Erdos, M; Adeleye, J; Balogun, W; Fasanmade, O; Johnson, T; Oli, J; Okafor, G; Amoah, A; Eghan Jr., BA; Agyenim-Boateng, K; Acheampong, J; Adebamowo, CA; Herbert, A; Gerry, N; Christman, MF; Chen, G; Shriner, D; Adeyemo, A; Rotimi, CN  

UGT1A1 is a Major Locus Influencing Bilirubin Levels in African Americans

European Journal of Human Genetics, April 2012
Chen, G; Ramos, E; Adeyemo, A; Shriner, D; Zhou, J; Doumatey, AP; Huang, H; Erdos, MR; Gerry, NP; Herbert, A; Bentley, AR; Xu, H; Charles, BA; Christman, MF; Rotimi, CN

Managing Incidental Findings and Research Results in Genomic Research Involving Biobanks and Archived Data Sets

Genetics in Medicine, April 2012
Wolf, SM; Crock, BN; Van Ness, B; Lawrenz, F; Kahn, JP; Beskow, LM; Cho, MK; Christman, MF; Green, RC; Hall, R; Illes, J; Keane, M; Knoppers, BM; Koenig, BA; Kohane, IS; Leroy, B; Maschke, KJ; McGeveran, W; Ossorio, P; Parker, LS; Petersen, GM; Richardson, HS; Scott, JA; Terry, SF; Wilfond, BS; Wolf, WA

Broadening Research Consent in the Era of Genome-Informed Medicine

Genetics in Medicine, March 2012
Kronenthal, CJ; Delaney, SK; Christman, MF

Genetic Adaptation to High Altitude in the Ethiopian Highlands

Genome Biology, January 2012
Scheinfeldt, LB; Soi, S; Thompson, S; Ranciaro, A; Woldemeskel, D; Beggs, W; Lambert, C; Jarvis, JP; Abate, D; Belay, G; Tishkoff, SA

Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks

Molecular Genetics and Metabolism, September-October 2011
Oster-Granite, ML; Parisi, MA; Abbeduto, L; Berlin, DS; Bodine, C; Bynum, D; Capone, G; Collier, E; Hall, D; Kaeser, L; Kaufmann, P; Krischer, J; Livingston, M; McCabe, LL; Pace, J; Pfenninger, K; Rasmussen, SA; Reeves, RH; Rubinstein, Y; Sherman, S; Terry, SF; Whitten, MS; Williams, S; McCabe, ER; Maddox, YT

The Functional Spectrum of Low-Frequency Coding Variation 

Genome Biology, September 2011
Marth, GT; Yu, F; Indap, AR; Garimella, K; Gravel, S; Leong, WF; Tyler-Smith, C; Bainbridge, M; Blackwell, T; Zheng-Bradley, X; Chen, Y; Challis, D; Clarke, L; Ball, EV; Cibulskis, K; Cooper, DN; Fulton, B; Hartl, C; Koboldt, D

A Comprehensive Map of Mobile Element Insertion Polymorphisms in Humans

PLoS Genetics, August 2011
Stewart, C; Kural, D; Strömberg, MP; Walker, JA; Konkel, MK; Stütz, AM; Urban, AE; Grubert, F; Lam, HY; Lee, WP; Busby, M; Indap, AR; Garrison, E; Huff, C; Xing, J; Snyder, MP; Jorde, LB

The Variant Call Format and VCFtools

Bioinformatics, August 2011
Danecek, P; Auton, A; Abecasis, G; Albers, CA; Banks, E; DePristo, MA; Handsaker, RE; Lunter, G; Marth, GT; Sherry, ST; McVean, G; Durbin, R; 1000 Genomes Project Analysis Group

Demographic History and Rare Allele Sharing Among Human Populations

Proceedings of the National Academy of Sciences of the United States of America, July 2011
Gravel, S; Henn, BM; Gutenkunst, RN; Indap, AR; Marth, GT; Clark, AG; Yu, F; Gibbs, RA; 1000 Genomes Project; Bustamante, CD

Motivations and Perceptions of Early Adopters of Personalized Genomics: Perspectives from Research Participants

Public Health Genomics, June 2011
Gollust, SE; Gordon, ES; Zayac, C; Griffin, G; Christman, MF; Pyeritz, RE; Wawak, L; Bernhard, BA

Variation in Genome-Wide Mutation Rates within and between Human Families

Nature Genetics, June 2011
Conrad, DF; Keebler, JE; DePristo, MA; Lindsay, SJ; Zhang, Y; Casals, F; Idaghdour, Y; Hartl, CL; Torroja, C; Garimella, KV; Zilversmit, M; Cartwright, R; Rouleau, GA; Daly, M; Stone, EA; Hurles, ME

PharmGKB Summary: Cytochrome P450, Family 2, Subfamily J, Polypeptide 2: CYP2J2

Pharmacogenetics and Genomics, May 2011
Berlin, DS; Sangkuhl, K; Klein, TE; Altman, RB

Replication of Genome-wide Association Studies (GWAS) Loci for Fasting Plasma Glucose in African-Americans

Diabetologia, April 2011
Ramos, E; Chen, G; Shriner, D; Doumatey, A; Gerry, NP; Herbert, A; Huang, H; Zhou, J; Christman, MF; Adeyemo, A; Rotimi, CN

The Use of Human Tissues in Research: What Do We Owe the Research Subjects?

Clinical Chemistry, April 2011
Gronowski, AM; Moye, J Jr; Wendler, DS; Caplan, AL; Christman, MF

Quality Assurance for Duchenne and Becker Muscular Dystrophy Genetic Testing: Development of a Genomic DNA Reference Material Panel

The Journal of Molecular Diagnostics, March 2011
Kalman, L; Leonard, J; Gerry, N; Tarleton, J; Bridges, C; Gastier-Foster, JM; Pyatt, RE; Stonerock, E; Johnson, MA; Richards, CS; Schrijver, I; Ma, T; Miller, VR; Adadevoh, Y; Furlong, P

Genetic Risk Estimation in the Coriell Personalized Medicine Collaborative

Genetics in Medicine, February 2011
Stack, CB; Gharani, N; Gordon, ES; Schmidlen, TJ; Christman, MF; Keller, MA

Mapping Copy Number Variation by Population-Scale Genome Sequencing

Nature, February 2011
Mills, RE; Walter, K; Stewart, C; Handsaker, RE; Chen, K; Alkan, C; Abyzov, A; Yoon, SC; Ye, K; Cheetham, RK; Chinwalla, A; Conrad, DF; Fu, Y; Grubert, F; Hajirasouliha, I; Hormozdiari, F

A Genome-wide Association Study of Serum Uric Acid in African Americans

BMC Medical Genomics, February 2011
Charles, BA; Shriner, D; Doumatey, A; Chen, G; Zhou, J; Huang, H; Herbert, A; Gerry, NP; Christman, MF; Adeyemo, A; Rotimi, CN

Population Differences in the Rate of Proliferation of International HapMap Cell Lines

American Journal of Human Genetics, December 2010
Stark, AL; Zhang, W; Zhou, T; O'Donnell, PH; Beiswanger, CM; Huang, RS; Cox, NJ; Dolan, ME

Characterization of 107 Genomic DNA Reference Materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: A GeT-RM and Association for Molecular Pathology Collaborative Project

The Journal of Molecular Diagnostics, November 2010
Pratt, VM; Zehnbauer, B; Wilson, JA; Baak, R; Babic, N; Bettinotti, M; Buller, A; Butz, K; Campbell, M; Civalier, C; El-Badry, A; Farkas, DH; Lyon, E; Mandal, S; McKinney, J

Diversity of Human Copy Number Variation and Multicopy Genes

Science, October 2010
Sudmant, PH; Kitzman, JO; Antonacci, F; Alkan, C; Malig, M; Tsalenko, A; Sampas, N; Bruhn, L; Shendure, J; 1000 Genomes Project; Eichler, EE

CoAIMs: A Cost-Effective Panel of Ancestry Informative Markers for Determining Continental Origins

PLoS One, October 2010
Londin, ER; Keller, MA; Maista, C; Smith, G; Mamounas, LA; Zhang, R; Madore, SJ; Gwinn, K; Corriveau, RA

A Map of Human Genome Variation from Population-Scale Sequencing

Nature, October 2010
The 1000 Genomes Project Consortium

Development of Admixture Mapping Panels for African Americans from Commercial High-Density SNP Arrays

BMC Genomics, July 2010
Chen, G; Shriner, D; Zhou, J; Doumatey, A; Huang, H; Gerry, NP; Herbert, A; Christman, MF; Chen, Y; Dunston, GM; Faruque, MU; Rotimi, CN; Adeyemo, A

Vascular Endothelial Growth Factor Pathway

Pharmacogenetics and Genomics, May 2010
Maitland, ML; Lou, XJ; Ramirez, J; Desai, AA; Berlin, DS; McLeod, HL; Weichselbaum, RR; Ratain, MJ; Altman, RB; Klein, TE

The Coriell Personalized Medicine Collaborative: A Prospective Study of Personalized Medicine

Personalized Medicine, May 2010
Keller, MA; Gordon, ES; Stack, CB; Gharani, N; Sill, CJ; Schmidlen, TJ; Mintzer, J; Pallies, J; Gerry, NP; Christman, MF

Clinical Evaluation Incorporating a Personal Genome

The Lancet, May 2010
Ashley, EA; Butte, AJ; Wheeler, MT; Chen, R; Klein, TE; Dewey, FE; Dudley, JT; Ormond, KE; Pavlovic A; Morgan, AA; Pushkarev, D; Neff, NF; Hudgins, L; Gong, L; Hodges, LM; Berlin, DS; Thorn, CF; Sangkuhl, K; Hebert, JM; Woon, M; Sagreiya, H; Whaley, R; Knowles, JW; Chou, MF; Thakuria, JV; Rosenbaum, AM; Zaranek, AW; Church, GM; Greely, HT; Quake, SR; Altman, RB

DNATwist: A Web-based Tool for Teaching Middle and High School Students About Pharmacogenomics

Clinical Pharmacology and Therapeutics, April 2010
Berlin, DS; Person, MG; Mittal, A; Oppezzo, MA; Chin, DB; Starr, B; Klein, TE; Schwartz, DL; Altman, RB

Disease Risks Derived from Genetic Variants Need Clinical Context

Genetics In Medicine, January 2010
Stack, CB

Transferability and Fine-Mapping of Genome-wide Associated Loci for Adult Height Across Human Populations

PLoS One, December 2009
Shriner, D; Adeyemo, A; Gerry, NP; Herbert, A; Chen, G; Doumatey, A; Huang, H; Zhou, J; Christman, MF; Rotimi, CN

Development of Genomic DNA Reference Materials for Genetic Testing of Disorders Common in People of Ashkenazi Jewish Descent

The Journal of Molecular Diagnostics, November 2009
Kalman, L; Wilson, JA; Buller, A; Dixon, J; Edelmann, L; Geller, L; Highsmith, WE; Holtegaard, L; Kornreich, R; Rohlfs, EM; Payeur, TL; Sellers, T; Toji, L; Muralidharan, K 

Autism-Associated Haplotype Affects the Regulation of the Homeobox Gene, ENGRAILED 2 

Biological Psychiatry, November 2009 
Benayed, R; Choi, J; Matteson, PG; Gharani, N; Kamdar, S; Brzustoq 

Development and Characterization of Reference Materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 Genetic Testing

The Journal of Molecular Diagnostics, November 2009
Barker, SD; Bale, S; Booker, J; Buller, A; Das, S; Friedman, K; Godwin, AK; Grody, WW; Highsmith, E; Kant, JA; Lyon, E; Mao, R; Monaghan, KG; Payne, DA; Pratt, VM; Schrijver, I

A Genome-wide Association Study of Hypertension and Blood Pressure in African Americans

PLoS Genetics, July 2009
Adeyemo, A; Gerry, N; Chen, G; Herbert, A; Doumatey, A; Huang, H; Zhou, J; Lashley, K; Chen, Y; Christman, MF; Rotimi, CN

Development of Genomic Reference Materials for Cystic Fibrosis Genetic Testing

The Journal of Molecular Diagnostics, May 2009
Pratt VM, Caggana M, Bridges C, Buller AM, DiAntonio L, Highsmith WE, Holtegaard LM, Muralidharan K, Rohlfs EM, Tarleton J, Toji L, Barker SD, Kalman LV

The Signatures of Autozygosity Among Patients with Colorectal Cancer

Cancer Research, April 2008
Bacolod, MD; Schemmann, GS; Wang, S; Shattock, R; Giardina, SF; Zeng, Z; Shia, J; Stengel, RF; Gerry, N; Hoh, J; Kirchhoff, T; Gold, B; Christman, MF; Offit, K; Gerald, WL; Notterman, DA; Ott, J; Paty, PB; Barany, F

Open-Access Database of Candidate Associations from a Genome-wide SNP Scan of the Framingham Heart Study

Nature Genetics, February 2007
Herbert, A; Lenburg, ME; Ulrich, D; Gerry, NP; Schlauch, K; Christman, MF