Division of Cytogenetics

Research output

Research output per year 2001 2002 2007 2008 2010 2011 2015 2019 2020 2022 2023

• 21 h-index
• 28 Article
• 13 Review article
• 5 Comment/debate
• 2 Chapter
• 3 More
  • 2 Editorial
  • 1 Letter

Research output per year

Research output per year

Search results

• 2023

  Newborn Screening Long-Term Follow-Up Clinics (Continuity Clinics) in the Philippines during the COVID-19 Pandemic: Continuing Quality Patient Care

  Maceda, E. B. G., Abadingo, M. E., Panol, K. A. R., Beltran, F. D. E., Valdez-Acosta, I. R. C., Taquiqui, G. D., Gawigawen, S. B., Macalino, M. V. L., Aguirre-Aguinaldo, L. M. S. M., Flores-Declaro, M. A., Ventilacion, K. J. V., Boligao, M. R. A. S. R., Honor, N. G., Ellong, M. S., Ocho-Ortencio, R. D., Beley, G. J., Bondoc-Eran, M. C. N., Therrell, B. L. & Padilla, C. D., Mar 2023, In: International Journal of Neonatal Screening. 9, 1, 2.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Newborn Screening 100%
  • Continuity Clinics 80%
  • Patient 80%
  • Follow up 30%
  • COVID-19 30%
• 2022

  Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors

  Kharrazi, M., Sacramento, C., Comeau, A. M., Hale, J. E., Caggana, M., Kay, D. M., Lee, R., Reilly, B., Thompson, J. D., Nasr, S. Z., Kleyn, M., Hoffman, G., Baker, M. W., Clarke, C., Harris, C. L., Dorley, M. C., Fryman, H., Sutaria, A., Hietala, A., Winslow, H., & 2 othersRichards, H. & Therrell, B. L., Dec 2022, In: International Journal of Neonatal Screening. 8, 4, 58.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Immunoreactive Trypsinogen 100%
  • Cystic Fibrosis 63%
  • Laboratory 27%
  • Laboratories 27%
  • Newborn Screening 18%
  2 Scopus citations

• Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry

  Padilla, C. D., Therrell, B. L., Alcausin, M. M. L. B., Chiong, M. A. D., Abacan, M. A. R., Reyes, M. E. L., Jomento, C. M., Dizon-Escoreal, M. T. T., Canlas, M. A. E., Abadingo, M. E., Posecion, J. E. W. C., Abarquez, C. G., Andal, A. P., Elizaga, A. L. G., Halili-Mendoza, B. C., Otayza, M. P. V. K. & Millington, D. S., Mar 2022, In: International Journal of Neonatal Screening. 8, 1, 8.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Screening 100%
  • Condition 54%
  • Philippines 36%
  • Mass Spectroscopy 18%
  • Laboratory 18%
  3 Scopus citations
• 2021

  Successful implementation of newborn screening for hemoglobin disorders in the philippines

  Padilla, C. D., Therrell, B. L., Alcausin, M. M. L. B., de Castro, R. C., Gepte, M. B. P., Reyes, M. E. L., Jomento, C. M., Suarez, R. C. N., Maceda, E. B. G., Abarquez, C. G., Posecion, J. E. W. C., Andal, A. P., Elizaga, A. L. G., Halili-Mendoza, B. C., Otayza, M. P. V. K. & Hoppe, C. C., 2021, In: International Journal of Neonatal Screening. 7, 2, 30.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Screening 100%
  • Neonatal Infant 75%
  • Hemoglobinopathy 33%
  • Diseases 16%
  • Newborn Screening 16%
  3 Scopus citations
• 2020

  Empowering newborn screening programs in African countries through establishment of an international collaborative effort

  On behalf of the faculty and speakers at the First Pan African Workshop on Newborn Screening, Rabat, Morocco, June 12-14, 2019, Jul 1 2020, In: Journal of Community Genetics. 11, 3, p. 253-268 16 p.

  Research output: Contribution to journal › Article › peer-review

  • Screening 100%
  • Africans 66%
  • African Country 50%
  • Cells 33%
  • Stakeholders 16%
  19 Scopus citations

• Philippine Performance Evaluation and Assessment Scheme (PPEAS): Experiences in Newborn Screening System Quality Improvement

  Padilla, C. D., Therrell, B. L., Panol, K. A. R., Suarez, R. C. N., Reyes, M. E. L., Jomento, C. M., Maceda, E. B. G., Lising, J. A. C., Beltran, F. D. E. & Orbillo, L. L., Dec 2020, In: International Journal of Neonatal Screening. 6, 4, 95.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Philippines 100%
  • Evaluation 70%
  • Assessment 70%
  • Laboratory 30%
  • Health 30%
  7 Scopus citations
• 2019

  Including ELSI research questions in newborn screening pilot studies

  for the Bioethics and Legal Workgroup of the Newborn Screening Translational Research Network, Mar 1 2019, In: Genetics in Medicine. 21, 3, p. 525-533 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Screening 100%
  • Newborn Screening 73%
  • Pilot Study 26%
  • Electric Potential 20%
  • Policy 13%
  14 Scopus citations
• 2017

  Newborn screening for hyperargininemia due to arginase 1 deficiency

  Therrell, B. L., Currier, R., Lapidus, D., Grimm, M. & Cederbaum, S. D., Aug 2017, In: Molecular Genetics and Metabolism. 121, 4, p. 308-313 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Screening 100%
  • Newborn Screening 100%
  • Arginine 87%
  • Argininemia 75%
  • Hyperargininemia 75%
  17 Scopus citations
• 2013

  Design and evaluation of a decision aid for inviting parents to participate in a fragile X newborn screening pilot study

  Bailey, D. B., Lewis, M. A., Harris, S. L., Grant, T., Bann, C., Bishop, E., Roche, M., Guarda, S., Barnum, L., Powell, C. & Therrell, B. L., Feb 2013, In: Journal of Genetic Counseling. 22, 1, p. 108-117 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Screening 100%
  • Newborn Screening 100%
  • Evaluation Study 100%
  • Woman 100%
  • Parent 100%
  7 Scopus citations

• Including the initial newborn screening bloodspot collection device serial number on birth certificates: Basis and recommendations from the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children

  Therrell, B. L. & Wu, C., Mar 2013, In: Genetics in Medicine. 15, 3, p. 229-233 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Newborn Screening 100%
  • Ethinylestradiol Plus Megestrol Acetate 50%
  • Diseases 30%
  • Advisory Committee 30%
  • Child 30%
  6 Scopus citations
• 2012

  Consolidating newborn screening efforts in the Asia Pacific region: Networking and shared education

  Padilla, C. D. & Therrell, B. L., Jan 2012, In: Journal of Community Genetics. 3, 1, p. 35-45 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Screening 100%
  • Asia 58%
  • Asia-Pacific 58%
  • Workshop 50%
  • Activity 41%
  37 Scopus citations
• 2011

  Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening

  Therrell, B. L., Hannon, W. H., Bailey, D. B., Goldman, E. B., Monaco, J., Norgaard-Pedersen, B., Terry, S. F., Johnson, A. & Howell, R. R., Jul 2011, In: Genetics in Medicine. 13, 7, p. 621-624 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Specimen 100%
  • Newborn Screening 85%
  • Screening 42%
  • Privacy 42%
  • Dried Blood Spot 28%
  55 Scopus citations

• Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States-Lessons learned

  Livingston, J., Therrell, B. L., Mann, M. Y., Anderson, C. S., Christensen, K., Gorski, J. L., Grange, D. K., Peck, D., Roberston, M., Rogers, S., Taylor, M. & Kaye, C. I., Dec 2011, In: Journal of Community Genetics. 2, 4, p. 191-200 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Neonatal Infant 100%
  • Screening 70%
  • Service Industries 70%
  • Genetics 52%
  • Program 52%
  5 Scopus citations
• 2010

  Effect of laboratory practices on the incidence rate of congenital hypothyroidism

  Hertzberg, V., Mei, J. & Therrell, B. L., May 2010, In: Pediatrics. 125, SUPPL. 2, p. S48-S53

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Congenital Hypothyroidism 100%
  • Incidence 100%
  • Hypothyroidism 100%
  • Screening 81%
  • Assay 81%
  28 Scopus citations
• 2008

  Communication of positive newborn screening results for sickle cell disease and sickle cell trait: Variation across states

  Kavanagh, P. L., Wang, C. J., Therrell, B. L., Sprinz, P. G. & Bauchner, H., Feb 15 2008, In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 148, 1, p. 15-22 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Sickle-Cell Disease 100%
  • Screening 85%
  • Sickle Cell Trait 71%
  • Newborn Screening 57%
  • Follow up 28%
  61 Scopus citations

• Considerations in choosing screening conditions: One (US) approach

  Therrell, B. L., Dec 1 2008, In: Annals of the Academy of Medicine Singapore. 37, 12 SUPPL., p. 22-26 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Screening 100%
  • State 85%
  • Newborn Screening 57%
  • United States 28%
  • Condition 28%
  2 Scopus citations

• Newborn screening for all identifiable disorders with tandem mass spectrometry is cost effective: Supporting arguments

  Therrell, B. L. & Buechner, C., Dec 1 2008, In: Annals of the Academy of Medicine Singapore. 37, 12 SUPPL., p. 32-35 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Tandem Mass Spectrometry 100%
  • Newborn Screening 66%
  • Technology 33%
  • Screening 16%
  • Inborn Error of Metabolism 16%
  2 Scopus citations
• 2007

  Assuring clinical genetic services for newborns identified through U.S. newborn screening programs

  Kaye, C. I., Livingston, J., Canfield, M. A., Mann, M. Y., Lloyd-Puryear, M. A. & Therrell, B. L., Aug 2007, In: Genetics in Medicine. 9, 8, p. 518-527 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Newborn Screening 100%
  • Neonatal Infant 85%
  • Clinical Genetics 71%
  • Screening 57%
  • Follow up 28%
  7 Scopus citations

• Financing newborn screening: Sources, issues, and future considerations

  Therrell, B. L., Williams, D., Johnson, K., Lloyd-Puryear, M. A., Mann, M. Y. & Ramos, L. R., 2007, In: Journal of Public Health Management and Practice. 13, 2, p. 207-213 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Program 100%
  • Screening 66%
  • Newborn Screening 58%
  • Health Policy 25%
  • State 25%
  13 Scopus citations

• Newborn screening in North America

  Therrell, B. L. & Adams, J., Aug 2007, In: Journal of Inherited Metabolic Disease. 30, 4, p. 447-465 19 p.

  Research output: Contribution to journal › Article › peer-review

  • United States of America 100%
  • Screening 83%
  • Newborn Screening 83%
  • Consumer 66%
  • Country 50%
  118 Scopus citations

• Newborn screening in the Asia Pacific region

  Padilla, C. D. & Therrell, B. L., Aug 2007, In: Journal of Inherited Metabolic Disease. 30, 4, p. 490-506 17 p.

  Research output: Contribution to journal › Article › peer-review

  • Screening 100%
  • Child 50%
  • Asia 33%
  • Asia and the Pacific 33%
  • Pacific Region 33%
  94 Scopus citations
• 2006

  Newborn screening: Toward a uniform screening panel and system - Executive summary

  Watson, M. S., Mann, M. Y., Lloyd-Puryear, M. A., Rinaldo, P., Howell, R. R., Cordero, J., Edwards, E. S., Howse, J. L., Mullaley, T., Van Dyck, P., Becker, W., Boyle, C., Cunningham, G. C., DeBaun, M. R., Downs, S. M., Goldman, E., Goodman, S. I., Guerra, F., Hannon, W. H., Hanson, J., & 32 othersLarson, C., McLean, S., Randhawa, G., Robertson, D., Rothstein, M., Steiner, R. D., Suter, S., Therrell, B., Tonniges, T., Yazzie, W., Bailey, D., Kaye, C. I., Kemper, A. R., Pass, K., Puck, J. M., Desposito, F., Hoffman, G., Stagni, K., Strauss, A., Trotter, T., Willey, A. M., Levy, H. L., Eckman, J. R., Lorey, F., Marsden, D. L., Miller, J., Laraque, D., Leight, K. R., Yawn, B., Goldman, E. B., Dozier, B. & Fleisher, L. D., May 2006, In: Pediatrics. 117, 5, p. S296-S307

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Screening 100%
  • Newborn Screening 60%
  • Differential Diagnosis 20%
  • Child Health 20%
  • Maternal Welfare 20%
  158 Scopus citations
• 2003

  Challenges and opportunities in establishing and maintaining newborn screening systems.

  Therrell, B. L., 2003, In: The Southeast Asian journal of tropical medicine and public health. 34 Suppl 3, p. 6-12 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Newborn Screening 100%
  • Screening 50%
  • Health 50%
  • Diseases 33%
  • Public Health 33%
  2 Scopus citations

• History of the International Society for Neonatal Screening.

  Therrell, B., Wilcken, B. & Naruse, H., 2003, In: The Southeast Asian journal of tropical medicine and public health. 34 Suppl 3, p. 3-5 3 p.

  Research output: Contribution to journal › Article › peer-review
  1 Scopus citations
• 2002

  Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss

  Nance, W. E., Arnos, K. S., Carey, J. C., Cunningham, G. C., Falk, R. E., Finitzo, T., Honrubia, D., Keats, B. J., Kimberling, W. J., Lim, G., Morton, C. C., Pandya, A., Pelias, M. K., Skordas, J., Smith, R., Watson, M. S., Boyle, C., Kenneson, A., Donahue, A., Lloyd-Puryear, M., & 4 othersMann, M., Sheehan, J., Therrell, B. & White, K. R., 2002, In: Genetics in Medicine. 4, 3, p. 162-171 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Genetic Service 100%
  • Hearing Impairment 80%
  • Practice Guideline 40%
  • Auditory Screening 40%
  • Evaluation Study 40%
  130 Scopus citations

• Newborn screening: Rationale for a comprehensive, fully integrated public health system

  McCabe, L. L., Therrell, B. L. & McCabe, E. R. B., 2002, In: Molecular Genetics and Metabolism. 77, 4, p. 267-273 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Newborn Screening 100%
  • Public Health 40%
  • Health System 40%
  • Time 40%
  • Health 40%
  48 Scopus citations
• 2001

  Integrating genetic services into public health - Guidance for state and territorial programs from the National Newborn Screening and Genetics Resource Center (NNSGRC)

  Kaye, C. I., Laxova, R., Livingston, J. E., Lloyd-Puryear, M. A., Mann, M., Mccabe, E. R. B. & Therrell, B. L., Dec 1 2001, In: Community Genetics. 4, 3, p. 175-196 22 p.

  Research output: Contribution to journal › Article › peer-review
  20 Scopus citations

• U.S. Newborn screening policy dilemmas for the twenty-first century

  Therrell, B. L., Jan 1 2001, In: Molecular Genetics and Metabolism. 74, 1-2, p. 64-74 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Newborn Screening 100%
  • Public Health 42%
  • Screening 28%
  • Diseases 14%
  • Disparity 14%
  99 Scopus citations