Division of Cytogenetics

2024

Causes of death in individuals with trisomy 18 after the first year of life

Mehl, J. M., Gelfond, J., Carey, J. C. & Cody, J. D., feb 2024, En: American Journal of Medical Genetics, Part A. 194, 2, p. 279-287 9 p.

Producción científica: Article › revisión exhaustiva

Acceso abierto

1 Cita (Scopus)

Understanding type and quality of relationships between individuals with chromosome 18 syndromes and their siblings

Larson, C. C., O'Donnell, L., Soileau, B., Van Riper, M., Stark, D., Hale, D. E. & Cody, J. D., oct 2024, En: Journal of Genetic Counseling. 33, 5, p. 1070-1081 12 p.

Producción científica: Article › revisión exhaustiva

2 Citas (Scopus)

2022

Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact

Commission on Novel Technologies for Neurodevelopmental Copy Number Variants, ago 4 2022, En: American Journal of Human Genetics. 109, 8, p. 1353-1365 13 p.

Producción científica: Review article › revisión exhaustiva

Acceso abierto

10 Citas (Scopus)

2020

Re-evaluation of the classification system for the clinical interpretation of genomic copy number variation

Cody, J. D., ene 1 2020, En: Genetics in Medicine. 22, 1, p. 234-235 2 p.

Producción científica: Letter › revisión exhaustiva

Acceso abierto

The Consequences of Abnormal Gene Dosage: Lessons from Chromosome 18

Cody, J. D. M., oct 2020, En: Trends in Genetics. 36, 10, p. 764-776 13 p.

Producción científica: Review article › revisión exhaustiva

6 Citas (Scopus)

2016

A framework for assessing outcomes from newborn screening: on the road to measuring its promise

the Follow-up and Treatment Sub-committee of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), ago 1 2016, En: Molecular Genetics and Metabolism. 118, 4, p. 221-229 9 p.

Producción científica: Comment/debate › revisión exhaustiva

Acceso abierto

25 Citas (Scopus)

2011

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., dic 2011, En: Journal of Community Genetics. 2, 4, p. 191-200 10 p.

Producción científica: Article › revisión exhaustiva

Acceso abierto

5 Citas (Scopus)

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. y 32 otros, Larson, 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, En: Pediatrics. 117, 5, p. S296-S307

Producción científica: Article › revisión exhaustiva

Acceso abierto

174 Citas (Scopus)

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., 2001, En: Community Genetics. 4, 3, p. 175-196 22 p.

Producción científica: Article › revisión exhaustiva

21 Citas (Scopus)

Division of Cytogenetics

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