Fingerprint Fingerprint is based on mining the text of the persons scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 3 Similar Profiles
Gyrate Atrophy Medicine & Life Sciences
Ornithine-Oxo-Acid Transaminase Medicine & Life Sciences
Genes Medicine & Life Sciences
Ornithine Medicine & Life Sciences
Mutation Medicine & Life Sciences
Peroxisomes Medicine & Life Sciences
Proline Medicine & Life Sciences
Proteins Medicine & Life Sciences

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Research Output 1973 2017

An evidence framework for genetic testing

Committee on the Evidence Base for Genetic Testing, Board on the Health of Select Populations, Board on Health Care Services, Health and Medicine Division & National Academies of Sciences, Engineering, and Medicine Apr 21 2017 National Academies Press. 136 p.

Research output: Book/ReportBook

Genetic Testing
Costs and Cost Analysis
Decision Making
Lamin Type A
Gene Frequency
Type 2 Diabetes Mellitus
Hispanic Americans
African Americans

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

Sobreira, N., Brucato, M., Zhang, L., Ladd-Acosta, C., Ongaco, C., Romm, J., Doheny, K. F., Mingroni-Netto, R. C., Bertola, D., Kim, C. A., Perez, A. B., Melaragno, M. I., Valle, D., Meloni, V. A. & Bjornsson, H. T. Dec 1 2017 In : European Journal of Human Genetics. 25, 12, p. 1335-1344 10 p.

Research output: Contribution to journalArticle

DNA Methylation
Histone Code

Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD

Guo, W. , Samuels, J. F. , Wang, Y. , Cao, H. , Ritter, M. , Nestadt, P. S. , Krasnow, J. , Greenberg, B. D. , Fyer, A. J. , McCracken, J. T. , Geller, D. A. , Murphy, D. L. , Knowles, J. A. , Grados, M. A. , Riddle, M. A. , Rasmussen, S. A. , McLaughlin, N. C. , Nurmi, E. L. , Askland, K. D. , Cullen, B. A. & 12 others Piacentini, J., Pauls, D. L., Bienvenu, O. J., Stewart, S. E., Goes, F. S., Maher, B., Pulver, A. E., Valle, D., Mattheisen, M., Qian, J., Nestadt, G. & Shugart, Y. Y. Jul 1 2017 In : European Neuropsychopharmacology. 27, 7, p. 657-666 10 p.

Research output: Contribution to journalArticle

Obsessive-Compulsive Disorder
Genome-Wide Association Study
Chromosomes, Human, Pair 16
Nuclear Family

Skeletal dysplasias: Growing therapy for growing bones

Jelin, A. C., O'Hare, E., Blakemore, K., Jelin, E. B., Valle, D. & Hoover-Fong, J. Mar 6 2017 In : Frontiers in Pharmacology. 8, MAR, 79

Research output: Contribution to journalReview article

Bone and Bones
Airway Obstruction
Respiratory Insufficiency