At 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.

Please contact with any questions regarding these publications, or to arrange a discussion with any of the authors.

(All publications marked with a "*" resulted from the Coriell Personalized Medicine Collaborative)

Safety, Outcomes, and T-Cell Characteristics in Patients with Relapsed or Refractory MDS or CMML Treated with Atezolizumab in Combination with Guadecitabine

Clinical Cancer Research, December 2022
O'Connell CL, Baer MR, Ørskov AD, Saini SK, Duong VH, Kropf P, Hansen JW, Tsao-Wei D, Jang HS, Emadi A, Holmberg-Thyden S, Cowland J, Brinker BT, Horwood K, Burgos R, Hostetter G, Youngblood BA, Hadrup SR, Issa JP, Jones P, Baylin SB, Siddiqi I, Grønbaek K.

Semi-automated assembly of high-quality diploid human reference genomes

Nature, November 2022
Jarvis ED, Formenti G, Rhie A, Guarracino A, Yang C, Wood J, Tracey A, Thibaud-Nissen F, Vollger MR, Porubsky D, Cheng H, Asri M, Logsdon GA, Carnevali P, Chaisson MJP, Chin CS, Cody S, Collins J, Ebert P, Escalona M, Fedrigo O, Fulton RS, Fulton LL, Garg S, Gerton JL, Ghurye J, Granat A, Green RE, Harvey W, Hasenfeld P, Hastie A, Haukness M, Jaeger EB, Jain M, Kirsche M, Kolmogorov M, Korbel JO, Koren S, Korlach J, Lee J, Li D, Lindsay T, Lucas J, Luo F, Marschall T, Mitchell MW, McDaniel J, Nie F, Olsen HE, Olson ND, Pesout T, Potapova T, Puiu D, Regier A, Ruan J, Salzberg SL, Sanders AD, Schatz MC, Schmitt A, Schneider VA, Selvaraj S, Shafin K, Shumate A, Stitziel NO, Stober C, Torrance J, Wagner J, Wang J, Wenger A, Xiao C, Zimin AV, Zhang G, Wang T, Li H, Garrison E, Haussler D, Hall I, Zook JM, Eichler EE, Phillippy AM, Paten B, Howe K, Miga KH; Human Pangenome Reference Consortium.

Epigenome-Wide Study Identifies Epigenetic Outliers in Normal Mucosa of Patients with Colorectal Cancer

Cancer Prevention Research, November 2022
Ghosh J, Schultz BM, Chan J, Wultsch C, Singh R, Shureiqi I, Chow S, Doymaz A, Varriano S, Driscoll M, Muse J, Kleiman FE, Krampis K, Issa JJ, Sapienza C.

Patient perceptions and potential utility of pharmacogenetic testing in chronic pain management and opioid use disorder in the Camden Opioid Research Initiative

Pharmaceutics, September 2022
Kusic D, Heil J, Zajic S, Brangan A, Dairo O, Smith G, Morales-Scheihing D, Buono RJ, Ferraro TN, Haroz R, Salzman M, Baston K, Bodofsky E, Sabia M, Resch A, Scheinfeldt LB

Transcriptional responses to injury of regenerative lung alveolar epithelium

iScience, August 2022
Ali M, LaCanna R, Lian Z, Huang J, Tan Y, Shao W, Yu X, Tian Y

Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project

The Journal of Molecular Diagnostics, August 2022
Pratt VM, Wang WY, Boone EC, Broeckel U, Cody N, Edelmann L, Gaedigk A, Lynnes TC, Medeiros EB, Moyer AM, Mitchell MW, Scott SA, Starostik P, Turner A, Kalman LV

An induced pluripotent stem cell line (CIMRi001-A) from a Vici syndrome donor with a homozygous recessive c.1007A>G (p.Q336R) mutation in the EPG5 gene

Stem Cell Research, August 2022
Mitchell MW, Grandizio C, Turan N, Requesens DV

Selective CDK9 Inhibition by Natural Compound Toyocamycin in Cancer Cells

Cancers, July 2022
Pandey S, Djibo R, Darracq A, Calendo G, Zhang H, Henry RA, Andrews AJ, Baylin SB, Madzo J, Najmanovich R, Issa JJ, Raynal NJ

Hypoxia drives hematopoiesis with the enhancement of T lineage through eliciting arterial specification of hematopoietic endothelial progenitors from hESC

Stem Cell Research & Therapy, June 2022
Wang N, Chen C, Cheng Y, Fu Y, Zhong Z, Yang Y, Lv L, Chen H, Huang J, Duan Y

Prospective comparison of outcomes with azacitidine and decitabine in patients with AML ineligible for intensive chemotherapy

Blood, July 2022
Zeidan AM, Fenaux P, Gobbi M, Mayer J, Roboz GJ, Krauter J, Robak T, Kantarjian HM, Novák J, Jedrzejczak WW, Thomas X, Ojeda-Uribe M, Miyazaki Y, Min YH, Yeh SP, Brandwein JM, Gercheva L, Demeter J, Griffiths EA, Yee KWL, Issa JJ, Bewersdorf JP, Keer H, Hao Y, Azab M, Döhner H

Single cell transcriptomic analysis reveals cellular diversity of murine esophageal epithelium

Nature Communications, April 2022
Kabir, MF; Karami, AL; Cruz-Acuña, R; Klochkova, A; Saxena, R; Mu, A; Murray, MG; Cruz J, Fuller, AD; Clevenger, MH; Chitrala, KN; Tan, Y; Keith, K; Madzo, J; Huang, H; Jelinek, J; Karakasheva, T; Hamilton, KE; Muir, AB; Tétreault, MP; Whelan, KA

Genome-wide DNA methylation profile in feline haematological tumours: A preliminary study

Research in Veterinary Science, November 2021
Yamazaki J, Jelinek J, Yokoyama S, Takiguchi M.

Microsatellite Markers in Biobanking: A New Multiplexed Assay

Biobanking and Biopreservation, September 2021
Smith, G; Mathews, D; Sander-Effron, S; Requesens, D; Turan, N; Scheinfeldt, L

Pharmacogenomics: From Basic Research to Clinical Implementation

Journal of Personalized Medicine, August 2021 
Scheinfeldt LB

Obese status is associated with accelerated DNA methylation change in peripheral
blood of senior dogs

Research in Veterinary Science, July 2021 
Yamazaki J, Meagawa S, Jelinek J, Yokoyama S, Nagata N, Yuki M, Takiguchi M.

TET2 and DNMT3A Mutations Exert Divergent Effects on DNA Repair and Sensitivity of Leukemia Cells to PARP Inhibitors

Cancer Research, July 2021 
Maifrede S, Le BV, Nieborowska-Skorska M, Golovine K, Sullivan-Reed K, Dunuwille WMB, Nacson J, Hulse M, Keith K, Madzo J, Caruso LB, Gazze Z, Lian Z, Padella A, Chitrala KN, Bartholdy BA, Matlawska-Wasowska K, Di Marcantonio D, Simonetti G, Greiner G, Sykes SM, Valent P, Paietta EM, Tallman MS, Fernandez HF, Litzow MR, Minden MD, Huang J, Martinelli G, Vassiliou GS, Tempera I, Piwocka K, Johnson N, Challen GA, Skorski T

The Roles of DNA Demethylases in Triple-Negative Breast Cancer

Pharmaceuticals, June 2021
Panjarian, S; Issa, JJ

Accelerated aging in normal breast tissue of women with breast cancer

Breast Cancer Research, May 2021
Panjarian, S; Madzo, J; Keith, K; Slater, CM; Sapienza, C; Jelinek, J; Issa, JJ

Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX: A GeT-RM Collaborative Project

Journal of Molecular Diagnostics, August 2021 
Pratt VM, Turner A, Broeckel U, Dawson DB, Gaedigk A, Lynnes TC, Medeiros EB, Moyer AM, Requesens D, Vetrini F, Kalman LV

DNA methylation landscape of 16 canine somatic tissues by methylation-sensitive restriction enzyme-based next generation sequencing

Scientific Reports, May 2021 
Yamazaki J, Matsumoto Y, Jelinek J, Ishizaki T, Maeda S, Watanabe K, Ishihara
G, Yamagishi J, Takiguchi M

Genome-wide DNA methylation analysis of dogs with high lead exposure living near a lead mining area in Kabwe, Zambia

Environmental Pollution, May 2021 
Yamazaki J, Toyomaki H, Nakayama SMM, Yabe J, Muzandu K, Jelinek J, Yokoyama S, Ikenaka Y, Takiguchi M, Ishizuka M

Astrocytes in cocaine addiction and beyond

Molecular Psychiatry, April 2021 
Wang J, Holt LM, Huang HH, Sesack SR, Nestler EJ, Dong Y

Common Treatment, Common Variant: Evolutionary Prediction of Functional Pharmacogenomic Variants

Journal of Personalized Medicine, Feb 2021
Scheinfeldt, L; Brangan, A; Kusic, DM; Kumar, S; Gharani, N

Cellular Heterogeneity-Adjusted cLonal Methylation (CHALM) improves prediction
of gene expression

Nature Communications, January 2021 
Xu J, Shi J, Cui X, Cui Y, Li JJ, Goel A, Chen X, Issa JP, Su J, Li W.

The Genomics of Opioid Addiction Longitudinal Study (GOALS): study design for a prospective evaluation of genetic and non-genetic factors for development of and recovery from opioid use disorder

BMC Medical Genomics, January 2021
Heil, J; Zajic, S; Albertson, E; Brangan, A; Jones, I; Roberts, W; Sabia, M; Bodofsky, E; Resch, A; Rafeq, R; Haroz, R; Buono, R; Ferraro, T; Scheinfeldt, L; Salzman, M & Baston, K

Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project

Journal of Molecular Diagnostics, November 2020
Prior TW, Bayrak-Toydemir P, Lynnes TC, Mao R, Metcalf JD, Muralidharan K, Iwata-Otsubo A, Pham HT, Pratt VM, Qureshi S, Requesens D, Shen J, Vetrini F, Kalman L

Testing a best practices risk result format to communicate genetic risks *

Patient Education and Counseling, October 2020
Davis, K; Roter, D; Schmidlen, T; Scheinfeldt, L; Klein, W

Pharmacogenomic (PGx) Counseling: Exploring Participant Questions about PGx Test Results *

Journal of Personalized Medicine, June 2020
Schmidlen, T;  Sturm, A; Scheinfeldt, L

rs11670527 Upstream of ZNF264 Associated with Body Mass Index in the Coriell Personalized Medicine Collaborative *

Military Medicine, February 2020
Kusic, D; Jarvis, J; Zhang, P; Scheinfeldt, L; Rajula, K; Brenner, R; Dempsey, M; Zajic, S

Genomic and Epigenomic Predictors of Response to Guadecitabine in Relapsed/Refractory Acute Myelogenous Leukemia

Clinical Epigenetics, July 2019
Chung, Woonbok; Kelly, Andrew D.; Kropf, Patricia; Fung, Henry; Jelinek, Jaroslav; Yao Su, Xiang; Roboz, Gail J.; Kantarjian, Hagop M.; Azab, Mohammad; Issa, Jean-Pierre J.

Individuals with CYP2C8 and CYP2C9 Reduced Metabolism Haplotypes Self-adjusted Ibuprofen Dose in the Coriell Personalized Medicine Collaborative *

Pharmacogenetics and Genomics, December 2018
Zajic, Stefan C; Jarvis, Joseph P; Zhang, Pan; Rajula, Kaveri D; Brangan, Andrew; Brenner, Ruth; Dempsey, Michael P; Christman, Michael F.

Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: A Framework for the Scalable Delivery of Genomic Counseling and Testing *

Journal of Genetic Counseling 27 (5), 1111-1129 8 2018
Tara Schmidlen, Amy C Sturm, Shelly Hovick, Laura Scheinfeldt, J Scott Roberts, Lindsey Morr, Joseph McElroy, Amanda E Toland, Michael Christman, Julianne M O’Daniel, Erynn S Gordon, Barbara A Bernhardt, Kelly E Ormond, Kevin Sweet

Early Outcome Data Assessing Utility of a Post-Test Genomic Counseling Framework for the Scalable Delivery of Precision Health *

Journal of Personalized Medicine, July 2018
Amy Sturm, Tara Schmidlen, Laura Scheinfeldt, Shelly Hovick, Joseph McElroy, Amanda Toland, J Roberts, Kevin Sweet

Genetic and Genomic Stability Across Lymphoblastoid Cell Line Expansions

BMC Research Notes, August 2018
Laura B. Scheinfeldt, Kelly Hodges, Jonathan Pevsner, Dorit Berlin, Nahid Turan and Norman P. Gerry

Outcomes of a Randomized Controlled Trial of Genomic Counseling for Patients Receiving Personalized and Actionable Complex Disease Reports *

Journal of Genetic Counseling, March 2017
Sweet K, Sturm AC, Schmidlen T, McElroy J, Scheinfeldt L, Manickam K, Gordon ES, Hovick S, Scott Roberts J, Toland AE, Christman M:

Precision Military Medicine: Conducting a Multi-site Clinical Utility Study of Genomic and Lifestyle Risk Factors in the United States Air Force *

Genomic Medicine, January 2017
Delaney, SK; Brenner, R; Schmidlen, TJ; Dempsey, MP; London, KE; Gordon, ES; Bellafante, M; Nasuti, A; Scheinfeldt, LB; Rajula, KD; Jose, L; Jarvis, JP; Gerry, NP; Christman, MF

Counselees' Perspectives of Genomic Counseling Following Online Receipt of Multiple Actionable Complex Disease and Pharmacogenomic Results: a Qualitative Research Study *

Journal of Genetic Counseling, December 2016
Sweet, K; Hovick, S; Sturm, AC; Schmidlen, T; Gordon, E; Bernhardt, B; Wawak, L; Wernke, K; McElroy, J; Scheinfeldt, L; Toland, AE; Roberts, JS; Christman, MF

A Randomized Trial Examining the Impact of Communicating Genetic and Lifestyle Risks for Obesity *

Obesity Journal, December 2016
Wang, C; Gordon, ES; Norkunas, T; Wawak, L; Liu, C; Winter, M; Kasper, RS; Christman, MF; Green, RC; Bowen, DJ

Challenges in Translating GWAS Results to Clinical Care *

International Journal of Molecular Sciences, August 2016
Scheinfeldt, LB; Schmidlen, T; Gerry, NP; Christman, MF

EMR Documentation of Physician-Patient Communication Following Genomic Counseling for Actionable Complex Disease and Pharmacogenomic Results *

Clinical Genetics, June 2016
Sweet, K; Sturm, AC; Schmidlen, T; Hovick, S; Peng, J; Manickam, K; Salikhova, A; McElroy, J; Scheinfeldt, L; Toland, AE; Roberts, JS; Christman, MF

Coronary Artery Disease Genetic Risk Awareness Motivates Heart Health Behaviors in the Coriell Personalized Medicine Collaborative *

Expert Review of Precision Medicine and Drug Development, June 2016
Scheinfeldt, LB; Schmidlen, TJ; Gharani, N; MacKnight, M; Jarvis, JP; Delaney, SK; Gordon, ES; Kronenthal, CJ; Gerry, NP; Christman, MF

An Expanded Pharmacogenomics Warfarin Dosing Table with Utility in Generalised Dosing Guidance *

Journal of Thrombosis and Haemostasis, April 2016
Shahabi, P; Scheinfeldt, LB; Lynch, DE; Schmidlen, TJ; Perreault, S; Keller, MA; Kasper, R; Wawak, L; Jarvis, JP; Gerry, NP; Gordon, ES; Christman, MF; Dube, M; Gharani, N

Assays for Qualification and Quality Stratification of Clinical Biospecimens Used in Research: A Technical Report from the ISBER Biospecimen Science Working Group

Biopreservation and Biobanking, April 2016
Betsou, F; Bulla, A; Cho, SY; Clements, J; Chuaqui, R; Coppola, D; De Souza, Y; De Wilde, A; Grizzle, W; Guadagni, F; Gunter, E; Heil, S; Hodgkinson, V; Kessler, J; Kiehntopf, M; Kim, HS; Koppandi, I; Shea, K; Singh, R; Sobel, M; Somiari, S; Spyropoulos, D; Stone, M; Tybring, G; Valyi-Nagy, K; Van den Eynden, G; Wadhwa, L

Toward Clinical Genomics in Everyday Medicine: Perspectives and Recommendations *

Expert Review of Molecular Diagnostics, February 2016
Delaney, SK; Hultner, ML; Jacob, HJ; Ledbetter, DH; McCarthy, JJ; Ball, Michael; Beckman, KB; Belmont, JW; Bloss, CS; Christman, MF; Cosgrove, A; Damiani, SA; Danis, T; Delledonne, M; Doughtery, MJ; Dudley, JT; Faucett, WA; Friedman, JR; Haase, DH; Hays, TS; Heilsberg, S; Huber, J; Kaminsky, L; Ledbetter, N; Lee, WH; Levin, E; Libiger, O; Linderman, M; Love, RL; Magnus, DV; Martland, A; McClure, SL; Megill, SE; Messier, H; Nussbaum, RL; Palaniappan, L; Patay, BA; Popovich, BW; Quackenbush, J; Savant, MJ; Su, MM; Terry, SF; Tucker, S; Wong, WT; Green, RC

An Integrated Map of Structural Variation in 2,504 Human Genomes

Nature, October 2015
The 1000 Genomes Project Consortium

A Global Reference for Human Genetic Variation

Nature, October 2015
The 1000 Genomes Project Consortium

Using the Coriell Personalized Medicine Collaborative Data to Conduct a Genome-Wide Association Study of Sleep Duration *

American Journal of Medical Genetics: Neuropsychiatric Genetics, September 2015

Scheinfeldt, LB; Gharani, N; Kasper, RS; Schmidlen, TJ; Gordon, ES; Jarvis, JP; Delaney, SK; Kronenthal, CK; Gerry, NP; Christman, MF

Genetic Knowledge Among Participants in the Coriell Personalized Medicine Collaborative *

Journal of Genetic Counseling, August 2015
Schmidlen, TJ; Scheinfeldt, LB; Zhaoyang, R; Kasper, RS; Sweet, K; Gordon, ES; Keller, MA; Stack, CB; Gharani, N; Daly, MB; Jarvis, JP; Christman, MF

Common Genetic Risk for Melanoma Encourages Preventive Behavior Change *

Journal of Personalized Medicine, February 2015
Diseati, L; Scheinfeldt, LB; Kasper, RS; Zhaoyang, R; Gharani, N; Schmidlen, TJ; Gordon, ES; Sessions, CK; Delaney, SK; Jarvis, JP; Gerry, N; Christman, MF

Biobanking for Genomics-based Translational Medicine

Genomics and Clinical Medicine, Second Edition, 2014. Oxford University Press.Edited by Kumar, D; Eng, C

Cell-line Authentication Demystified

Nature Methods, May 2014
Marx, V

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-tau 181, 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