COBRE Phase I Publications

Year 1

Rivera-Torres N, Strouse B, Bialk P, Niamat RA, Kmiec EB. The position of DNA cleavage by TALENs and cell synchronization influences the frequency of gene editing directed by single-stranded oligonucleotides. PLoS One. 2014;9(5):e96483.

Investigator: Rivera-Torres N | Date: 2014

Wiener, L., Reader, S.K., & Kazak, A.E. (2015). Special considerations in working with families. In L. Wiener, M. Pao, A.E. Kazak, M.J. Kupst, & A.F. Patenaude (Vol. Eds.), Quick Reference for Pediatric Oncology Clinicians: The Psychiatric and Psychological Dimensions of Pediatric Cancer Symptom Management, 2nd Edition (pp. 271-79). New York, NY: Oxford University Press.

Investigator: S. Reader | Date: 2015 | Type: Book chapter

Kazak, A.E., Alderfer, M.A., & Reader, S.K., (in press). Families and other systems in pediatric psychology. In M.C. Roberts & R.G. Steele (Eds.). Handbook of Pediatric Psychology, 5th Edition. New York: Guilford Press.

Investigator: S. Reader | Date: 2015 | Type: Book chapter

Year 2

Bloh KM, Bialk PA, Gopalakrishnapillai A, Kolb EA, Kmiec EB. CRISPR/Cas9-Directed Reassignment of the GATA1 Initiation Codon in K562 Cells to Recapitulate AML in Down Syndrome. Mol Ther Nucleic Acids. 2017;7:288-298.

Investigator: Bloh KM, Kolb EA, Kmiec EB | Date: 2017

Bialk P, Rivera-Torres N, Strouse B, Kmiec EB. Regulation of Gene Editing Activity Directed by Single-Stranded Oligonucleotides and CRISPR/Cas9 Systems. PLoS One. 2015;10(6):e0129308.

Investigator: Rivera-Torres N, Kmiec EB | Date: 2015

Crowgey EL, Stabley DL, Chen C, et al. An integrated approach for analyzing clinical genomic variant data from next-generation sequencing. J Biomol Tech. 2015;26(1):19-28.

Investigator: Crowgey EL | Date: 2015

Hildenbrand AK, Barakat LP, Alderfer MA, Marsac ML. Coping and coping assistance among children with sickle cell disease and their parents. J Pediatr Hematol Oncol. 2015;37(1):25-34.

Investigator: Hildenbrand AK | Date: 2015

Schultz CL, Tchume-Johnson T, Schapira MM, Bellamy S, Smith-Whitley K, Ellison A. Adherence to prompt fever evaluation in children with sickle cell disease and the health belief model. Pediatr Blood Cancer. 2015;62(11):1968-1973.

Investigator: Schultz CL | Date: 2015

Burenbatu, Borjigin M, Eerdunduleng, Huo W, Gong C, Hasengaowa, Zhang G, Longmei, Li M, Zhang X, Sun X, Yang J, Wang S, Narisu N, Liu Y, Bai H. Profiling of miRNA expression in Immune thrombocytopenia patients before and after Qishunbaolier (QSBLE) treatment. Biomed Pharmacother. 2015 Aug 18. pii: S0753-3322(15)00166-3. doi: 10.1016/j.biopha.2015.07.022. (*Borjigin M is a penn name for Dula Man)

Investigator: D. Man | Date: Aug 2015 | Type: Peer-reviewed manuscript | PubMED

Wu R, Niamat RA, Sansbury B, Borjigin M. Fabrication and Evaluation of Multilayer Nanofiber-Hydrogel Meshes with a Controlled Release Property. Fibers 2015, 3, 296-308. (note: Borjigin M is a pen name for Dula Man)

Investigator: D. Man | Date: Jul 2015 | Type: Peer-reviewed manuscript

Hooper SR, Laney N, Radcliffe J, Moodalbail D, Hartung EA, Ruebner RL, Jawad AF, Furth SL. "Executive Functioning in Children, Adolescents, and Young Adulsts with Chronic Kidney Disease", J Dev Behav Pediatr. 2015 Nov-Dec;36(9):734-42. doi: 10.1097/DBP.0000000000000221.

Investigator: D. Moodalbail | Date: Dec 2015 | Type: Peer-reviewed manuscript | PubMED

Wiener, L., Reader, S.K., & Kazak, A.E. (2015). Special considerations in working with families. In L. Wiener, M. Pao, A.E. Kazak, M.J. Kupst, & A.F. Patenaude (Vol. Eds.), Quick Reference for Pediatric Oncology Clinicians: The Psychiatric and Psychological Dimensions of Pediatric Cancer Symptom Management, 2nd Edition (pp. 271-79). New York, NY: Oxford University Press.

Investigator: S. Reader | Date: 2015 | Type: Book Chapter

Daniel, LC, Li, Y, Smith, K, Tarazi, R, Robinson, MR, Patterson, CA, Smith-Whitley, Stuart, M, Barakat, LP. Lessons learned from a randomized controlled trial of a family-based intervention to promote school functioning for school-age children with sickle cell disease. Journal of Pediatric Psychology, 2015; 40: 1085-94. PMID: 26136404; PubMed Central pmcid: PMC4626743.​

Investigator: M. Stuart | Date: Dec 2015 | Type: Peer-reviewed manuscript | PubMED

Year 3

Crowgey EL, Matlock A, Venkatraman V, Fert-Bober J, Van Eyk JE. Mapping Biological Networks from Quantitative Data-Independent Acquisition Mass Spectrometry: Data to Knowledge Pipelines. Methods Mol Biol. 2017;1558:395-413.

Investigator: Crowgey EL | Date: 2017

Dula Man1*, Brett Sansbury1*, Pawel Bialk2, Kevin Bloh3, E. Anders Kolb3 and Eric B. Kmiec2 , "Target Site Mutagenesis during CRISPR/Cas 9/Single-Stranded- Oligonucleotide Directed Gene Editing for Sickle Cell Anemia"

Investigator: D. Man | Date: Dec 2016 | Type: Abstract

Bialk P, Sansbury B, Rivera-Torres N, Bloh K, Dula M, Kmiec EB (2016) Analysis of point mutation repair and allelic heterogeneity generated by CRISP/Cas9 and single-stranded DNA oligonucleotides. Nature: Sci. Rep.

Investigator: D. Man | Date: Sept 2016 | Type: Peer-reviewed manuscript | PubMED

Rigumula Wu, Brett Sansbury, Dula Man, Gene Editing of Sickle Cell Disease Hemoglobin β Gene (HBB) in CD34+ Cells

Investigator: D. Man | Date: Jun 2016 | Type: Abstract

Divya G. Moodalbail MD1 and Bonita Falkner MD, "Genetic Risk and Markers of Early Kidney Disease in Children and Young Adults with Sickle Cell Disease"

Investigator: D. Moodalbail | Date: Apr 2016 | Type: Abstract

Divya G. Moodalbail MD1, Marie Stuart MD1, and Bonita Falkner MD2, Early Kidney Disease in Youth with Sickle Cell Disease

Investigator: D. Moodalbail | Date: Jun 2016 | Type: Abstract

Moodalbail DG, Apple LZ, Meyers KE, Ginsberg JP, Kaplan BS, Bellah R. Acquired Multiple Cysts of the Kidney in Neuroblastoma Survivors. Am J Kidney Dis. 2016 Jul; 68(1):134-7. doi: 10.1053/j.ajkd.2016.01.028

Investigator: D. Moodalbail | Date: Jul 2016 | Type: Review article | PubMED

Divya G. Moodalbail MD, Joshua Zaritsky MD, PhD, Rob Mathias MD, Carlos Araya MD, and Bonita Falkner MD, 'Apolipoprotein L1 Genetic Variants are Associated with Evidence of Early Kidney Injury in Sickle Cell Disease'

Investigator: D. Moodalbail | Date: Nov 2016 | Type: Abstract

Moodalbail DG, Hooper SR, Chapter: Neurocognitive Functioning in Children Undergoing Dialysis, Book: Handbook of Dialysis Therapy, 5th Edition, 955-964, 2017

Investigator: D. Moodalbail | Date: 2017 | Type: Book chapter | PubMED

Rivera-Torres N, Banas K, Bialk PB, Bloh K, Kmiec EB (2016) Insertional mutagenesis by CRISPR/Cas9 Ribonucleoprotein gene editing in cells targeted for point mutation repair directed by short single-stranded DNA oligonucleotides. PLOS ONE

Investigator: E. Kmiec | Date: Oct 2016 | Type: Peer-reviewed manuscript | PubMED

E. Anders Kolb, MD1, Erin Coyne, MSN, NP2*, Erin Crowgey, PhD3*, Villanueva Raymond, BSN, RN, CHTS-CP4*, Jean Wadman, MSN, NP2*, Sidnie Jacobs-Allen2* and Robin E. Miller, M.D., 2331 Improving Care of Patients with Sickle Cell Disease through Discrete Clinical Data Extraction and Automated Analysis of the Electronic Healthcare Records.

Publication

Investigator: EA. Kolb | Date: Dec 2016 | Type: Abstract

Robin Miller, MD*, Dawn S Brown, PCNS, FNP, CCRC*, Scott W Keith, PhD**, Benjamin E Leiby, PhD**, Sarah E Hegarty, MPhil**, Yamaja Setty, PhD*, Claudia M Campbell, PhD***, and Marie Stuart, MD*, Quantitative Sensory Testing (QST) in Children with Sickle Cell Disease

Investigator: R. Miller | Date: Jun 2016 | Type: Abstract

Steven K. Reader, Ph.D., Nicole M. Ruppe, B.S., Janet A. Deatrick, Ph.D., Diana Rash-Ellis, M.S.W., Jean R. Wadman, M.S.N., C.P.N.P., Robin E. Miller, M.D., Anne E. Kazak, Ph.D., ABPP, "Assessing psychosocial risk in pediatric Sickle Cell Disease using the Psychosocial Assessment Tool (PAT): Acceptability and content validity

Investigator: S. Reader | Date: Jun 2016 | Type: Abstract

Steven K. Reader, Ph.D., Nicole M. Ruppe, B.S., Janet A. Deatrick, Ph.D., Diana Rash-Ellis, M.S.W., Jean R. Wadman, M.S.N., C.P.N.P., Robin E. Miller, M.D., Anne E. Kazak, Ph.D., ABPP. Caregiver perspectives on family psychosocial risk and adaptive coping strategies in pediatric Sickle Cell Disease: informing the adaptation of the Psychosocial Assessment Tool (PAT).

Investigator: S. Reader | Date: Apr 2017 | Type: Abstract

Cherese Winstead, PhD, Nanofiber Scaffolds as an Ex-vivo Method for CD34+Hematopoietic Progenitor Stem Cell (HPC) Growth and Expansion

Investigator: C. Winstead | Date: Jun-16 | Type: Abstract

Year 4

Crowgey EL, Marsh AG, Robinson KG, Yeager SK, Akins RE. Epigenetic machine learning: utilizing DNA methylation patterns to predict spastic cerebral palsy. BMC Bioinformatics. 2018;19(1):225.

Investigator: Crowgey EL | Date: 2018

Crowgey EL, Wyffels JT, Osborn PM, Wood TT, Edsberg LE. A Systems Biology Approach for Studying Heterotopic Ossification: Proteomic Analysis of Clinical Serum and Tissue Samples. Genomics Proteomics Bioinformatics. 2018;16(3):212-220.

Investigator: Crowgey EL | Date: 2018

*Modarai SR, *Man D, Bialk P, Rivera-Torres N, Bloh K, Kmiec EB, Efficient delivery and nuclear uptake is not sufficient to detect gene editing in CD34+ cells directed by a ribonucleoprotein complex, Molecular Therapy: Nucleic Acid (2018), doi: 10.1016/j.omtn.2018.01.013. (* first co-authours)

Investigator: D. Man | Date: Jan 2018 | Type: Peer-reviewed manuscript | PubMED

Divya G. Moodalbail, MD1 and Bonita Falkner, MD2, Ambulatory Hypertension in a Pediatric Cohort of Sickle Cell Disease

Investigator: D. Moodalbail | Date: Aug 2017 | Type: Abstract

Divya G. Moodalbail, MD1 and Bonita Falkner, MD2, Apolipoprotein L1 Genetic Variants Are Associated with Evidence of Early Kidney Injury in Sickle Cell Disease

Investigator: D. Moodalbail | Date: Aug 2017 | Type: Abstract

Erin L. Crowgey, PhD, H. Timothy Bunnell, PhD, E. Anders Kolb, MD, Analysis of Whole Exome Sequencing Data from Sickle Cell Disease Subjects: A Focus on Genomic Variants and Adverse Events

Investigator: E. Corwgey | Date: Jan 2018 | Type: Abstract

Erin L. Crowgey, PhD1, Jeffrey C. Myers, B1S, Joseph D. Romano, Mphil, MA2, and Shawn W. Polson, PhD3, Computational Resources for Personalized Genomics: High Performance Clusters and Bioinformatics Resources for Analysis and Functional Interprertation of Next-Generation Sequencing Data

Investigator: E. Corwgey | Date: Jan 2018 | Type: Abstract

Jing J, R Miller, J Salvin, S Lehman, D Hendricks, A Freiss, L Libfraind, "Funduscopic Examination and SD-ODT in Detecting Sickle Cell Retinopathy among Pediatric Patients"

Investigator: R. Miller | Date: Dec 2017 | Type: Abstract | PubMED

Robin Miller, MD1, Erin Coyne, MSN, CRNP1, Dan Eckrich, MS1, Raymond Villanueva, BSN, CHTS-CP, RN1, Jean Wadman, ARNP1, Renee Gresh, DO1, H. Timothy Bunnell, PhD1, Erin L. Crowgey, PhD1, and E. Anders Kolb, MD1, Implementation of a Learning Healthcare System for Sickle Cell Disease

Investigator: R. Miller | Date: Jan 2018 | Type: Abstract

Jing J, R Miller, J Salvin, S Lehman, D Hendricks, A Freiss, L Libfraind, Funduscopic Examination and SD-ODT in Detecting Sickle Cell Retinopathy among Pediatric Patients, J AAPOS 22(3): 197-201.e191.

Investigator: R. Miller | Date: 2018 | Type: Peer-reviewed manuscript

Reader, S.K., Ruppe, N.M., Deatrick, J.A., Rash-Ellis, D.L., Wadman, J.R., Miller, R.E., & Kazak, A.E. (2017). Caregiver perspectives on family psychosocial risks and resiliencies in pediatric Sickle Cell Disease: informing the adaptation of the Psychosocial Assessment Tool. Clinical Practice in Pediatric Psychology, 5, 330-341

Investigator: S. Reader | Date: Dec 2017 | Type: Peer-reviewed manuscript

Kazak, A.E., Alderfer, M.A., & Reader, S.K., (2017). Families and other systems in pediatric psychology. In M.C. Roberts & R.G. Steele (Eds.). Handbook of Pediatric Psychology, 5th Edition (pp. 566-579). New York: Guilford Press

Investigator: S. Reader | Date: 2017 | Type: Book chapter

Yamaja Setty, PhD1, Suhita Gayen-Betal, PhD2 and Marie Stuart, MD3. "Pathophusiologic Implications of Type-2 Phosphatidylserine-Positive Erythrocytes in Hemoglobin SS Disease (sickle cell anemia) and ß-Thalassemia.

Investigator: Y. Setty | Date: Aug 2017 | Type: Abstract

Year 5

Moodalbail DG, Falkner B, Keith SW, Mathias RS, Araya CE, Zaritsky JJ, Stuart MJ. "Ambulatory hypertension in a pediatric cohort of sickle cell disease". J Am Soc Hypertens. 2018 Jul;12(7):542-550. doi: 10.1016/j.jash.2018.04.005. Epub 2018 May 5

Investigator: D. Moodalbail | Date: Jul 2018 | Type: Peer-reviewed manuscript | PubMED

Jing Jin MD, PhD, Robin Miller MD, Jonathan Salvin MD, Sharon Lehman MD, Dorothy Hendricks MD, Amanda Friess OD and Lauren Libfraind MD, Funduscopic Examination and SD-ODT in Detecting Sickle Cell Retinopathy among Pediatric Patients. Journal of AAPOS, 2018-06-01, Volume 22, Issue 3, Pages 197-201.e1

Investigator: R Miller | Date: Jun 2018 | Type: Peer-reviewed manuscript | PubMED

Robin E. Miller, Dawn S. Brown, Scott W. Keith, Sarah E. Hegarty,2Yamaja Setty, Claudia M. Campbell, Suzanne M. McCahan, Suhita Gayen-Betal, Hal Byck and Marie Stuart. "Quantitative sensory testing in children with sickle cell disease: additional insights and future possibilities". British Journal of Haematology. 28 March 2019; 925-934 Volume 185, Issue 5. doi.: 10.1111/bjh.15876

Publication

Investigator: Robin E. Miller | Date: Mar 2019 | Type: Peer-reviewed manuscript

B N Yamaja Setty, Suhita Gayen Betal, Robin E Miller, Dawn S Brown, Maureen Meier, Michele Cahill, Norma B Lerner, Nataly Apollonsky, and Marie J Stuart (2019) Relationship of omega-3 fatty acids DHA and EPA with the inflammatory biomarker hs-CRP in children with sickle cell anemia. Prostaglandins, Leukotrienes and Essential Fatty Acids 146: 11-18.

Publication

Investigator: B N Yamaja Setty | Date: Jul 2019 | Type: Peer-reviewed manuscript

Steven K. Reader, Laura M. Rockman, Katherine M. Okonak, Nicole M. Ruppe, Colleen N. Keeler, Anne E. Kazak (2019) Systematic Review: Pain and Emotional Functioning in Pediatric Sickle Cell Disease. Journal of Clinical Psychology in Medical Settings, 1-23, DOI 10.1007/s10880-019-09647-x

Publication

Investigator: Steven K. Reader | Date: Aug 2019 | Type: Peer-reviewed manuscript

Reader, S.K., Pantaleao, A., Keeler, C.N., Rash-Ellis, D., Wadman, J., Miller, R.E., Kazak, A.E., & Deatrick, J.A. Family resilience from the perspective of caregivers of youth with Sickle Cell Disease. Journal of Pediatric Hematology Oncology.

Investigator: S. Reader | Date: Dec 2019 | Type: Peer-reviewed manuscript | PubMED

Potential Inequities in New Medical Technologies, Scientific American, March 28, 2020

Publication

Investigator: Eric Kmiec, Jonathan Marron | Date: Mar 2020

Reader, S.K., Keeler, C.N., Chen, F.F., Ruppe, N.M., Rash-Ellis, D.L., Wadman, J.R., Miller, R.E., & Kazak, A.E. . Screening for family psychosocial risk in pediatric Sickle Cell Disease: Validation of the Psychosocial Assessment Tool (PAT). Journal of Pediatric Psychology. 2020 May 1;45(4):423-433. doi: 10.1093/jpepsy/jsaa002.

Investigator: S. Reader | Date: May 2020 | PubMED

Bawre, S.P., Gopalakrisnapillai, A., Mahajan, N., Druley, T.E, Kolb, E.A, and Crowgey, EL. (2020) Strong concordance between RNA structural and single nucleotide variants identified via next generation sequencing techniques in primary pediatric leukemia and patient-derived xenograft samples. Genomics & Informatics. doi.org/10.5808/GI.2020.18.1.e6

Investigator: Crowgey, EL | Date: 2020

Crowgey, E.L., Soini, T., Shah, N., Pauniaho, SL., Lahdenne, P., Wilson, D.B., Heikinheimo, M., Druley, T.E. (2020) Germline sequencing identifies rare variants in Finnish subjects with familial germ cell tumors. Application of Clinical Genetics. doi.org/10.2147/TACG.S245093

Investigator: Crowgey, EL | Date: 2020

Breitenstein MK and Crowgey EL. (2020) Fundamentals of Drug Metabolism and Pharmacogenomics Within a Learning Healthcare System Workflow Perspective. In: Adam T., Aliferis C. (eds) Personalized and Precision Medicine Informatics. Health Informatics. Springer, Cham. DOI: 10.1007/978-3-030-18626-5_5.

Investigator: Crowgey, EL | Date: 2020

Crowgey, E. L., Lee, M.M., Sansbury, B., and Kmiec, E.B. Perspectives on molecular diagnostics testing for the COVID19 pandemic in Delaware. 2020. Delaware Journal of Public Health. https://djph.org/wp-content/uploads/2020/07/7_Kmiec-et-al_Molecular-Diagnostic-Testing.pdf

Investigator: Crowgey, EL | Date: 2020

Robin Miller, Erin Coyne, Erin L Crowgey, Dan Eckrich, Jeffrey C Myers, Raymond Villanueva, Jean Wadman, Sidnie Jacobs-Allen, Renee Gresh, Samuel LVolchenboum, and E Anders Kolb*. Implementation of a learning healthcare system for sickle cell disease. JAMIA Open, 0(0), 2020, 1–11 doi: 10.1093/jamiaopen/ooaa024

Investigator: Robin Miller, Erin L Crowgey and E Anders Kolb | Date: 2020

Winstead C, Lott, L, Milligan, K, Hyppolite L. Review: Biomimetic nanofibers in the ex vivo expansion of cord blood-derived hematopoietic stem cells. Medical Research Archives. 2020;8(7).

Investigator: Winstead C | Date: 2020

Modarai SR, Kanda S, Bloh K, Opdenaker LM, Kmiec EB. Precise and error-prone CRISPR-directed gene editing activity in human CD34+ cells varies widely among patient samples. Gene Ther. 2020.

Investigator: Modarai SR | Date: 2020

Crowgey EL, Mahajan N, Wong WH, et al. Error-corrected sequencing strategies enable comprehensive detection of leukemic mutations relevant for diagnosis and minimal residual disease monitoring. BMC Med Genomics. 2020;13(1):32.

Investigator: Crowgey EL | Date: 2020

Crowgey EL, Washburn MC, Kolb EA, Puffenberger EG. Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania. J Mol Diagn. 2019;21(4):687-694.

Investigator: Crowgey EL | Date: 2019

Franke KR, Crowgey EL. Accelerating next generation sequencing data analysis: an evaluation of optimized best practices for Genome Analysis Toolkit algorithms. Genomics Inform. 2020;18(1):e10.

Investigator: Crowgey EL | Date: 2020

Schultz CL, Alderfer MA, Lindell RB, et al. The Influence of Adolescence on Parents' Perspectives of Testing and Discussing Inherited Cancer Predisposition. J Genet Couns. 2018.

Investigator: Schultz CL | Date: 2018

Schultz CL, Tchume-Johnson T, Jackson T, Enninful-Eghan H, Schapira MM, Smith-Whitley K. Reproductive intentions in mothers of young children with sickle cell disease. Pediatr Blood Cancer. 2020:e28227.

Investigator: Schultz CL | Date: 2020

Schultz CL, Tchume-Johnson T, Jackson T, Enninful-Eghan H, Schapira MM, Smith-Whitley K. Reproductive intentions in mothers of young children with sickle cell disease. Pediatr Blood Cancer. 2020;67(5):e28227.

Investigator: Schultz CL | Date: 2020

Hildenbrand AK, Quinn CT, Mara CA, et al. A preliminary investigation of the psychometric properties of PROMIS(R) scales in emerging adults with sickle cell disease. Health Psychol. 2019;38(5):386-390.

Investigator: Hildenbrand AK | Date: 2019

Hildenbrand AK, Conour C, Straus JA, Moufarrej S, Palermo TM. Trial Registration and Outcome Reporting in Child and Pediatric Psychology: A Systematic Review. J Pediatr Psychol. 2019;44(9):1024-1033.

Investigator: Hildenbrand AK | Date: 2019

Rebecca Rossi, Neil Rellosa, Robin Miller, Corinna L Schultz, Jonathan M Miller, Loren Berman, Elissa G Miller. A Complicated Case of Vaccine Refusal. 2020 Oct;146(4):e20200768.doi: 10.1542/peds.2020-0768

Investigator: Robin Miller , Corinna L Schultz | Date: Oct 2020

Kazak A, Alderfer M, Enlow P, Lewis AM, Vega G, Barakat L, Kassam-Adams N, Pai A, Canter K, Hildenbrand A, McDonnell GA, Price J, Schultz C, Sood E, Phan TL. COVID-19 Exposure and Family Impact Scales (CEFIS): A caregiver measure of pandemic- related experiences. Journal of Pediatric Psychology. Accepted for publication. 2021

Investigator: Hildenbrand A, Schultz C | Date: 2021