1990 …2019
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Fingerprint Dive into the research topics where Ada Hamosh is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 15 Similar Profiles
Genetic Databases Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Mutation Medicine & Life Sciences
Cystic Fibrosis Medicine & Life Sciences
Genes Medicine & Life Sciences
Medical Genetics Medicine & Life Sciences
Cystic Fibrosis Transmembrane Conductance Regulator Medicine & Life Sciences
Exome Medicine & Life Sciences

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Research Output 1990 2019

Insights into genetics, human biology and disease gleaned from family based genomic studies

Centers for Mendelian Genomics, Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Medical Genetics
Genomics
Rare Diseases
Human Genome
Genes

OMIM.org: leveraging knowledge across phenotype-gene relationships

Amberger, J. S., Bocchini, C. A., Scott, A. F. & Hamosh, A., Jan 8 2019, In : Nucleic Acids Research. 47, D1, p. D1038-D1043

Research output: Contribution to journalArticle

Genetic Databases
Phenotype
Genes
Genetic Heterogeneity
Medical Genetics

Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy

Fichtman, B., Harel, T., Biran, N., Zagairy, F., Applegate, C. D., Salzberg, Y., Gilboa, T., Salah, S., Shaag, A., Simanovsky, N., Ayoubieh, H., Sobreira, N., Punzi, G., Pierri, C. L., Hamosh, A., Elpeleg, O., Harel, A. & Edvardson, S., Jul 3 2019, In : American journal of human genetics. 105, 1, p. 48-64 17 p.

Research output: Contribution to journalArticle

Nuclear Pore
Fibroblasts
Nuclear Pore Complex Proteins
Microcephaly
Myoclonus

Bioinformatics for medical students: a 5-year experience using OMIM® in medical student education

Lee-Barber, J., Kulo, V., Lehmann, H. P., Hamosh, A. & Bodurtha, J. N., Jun 21 2018, (Accepted/In press) In : Genetics in Medicine. p. 1-5 5 p.

Research output: Contribution to journalArticle

Genetic Databases
Clinical Competence
Medical Education
Computational Biology
Medical Students

Metabolic diseases in hyperammonemic newborns

Roshan Lal, T. R. & Hamosh, A., Jan 1 2018, The 5-Minute Pediatric Consult, 8th Edition. Wolters Kluwer Health, p. 594-595 2 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Metabolic Diseases