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.

  • 2 Similar Profiles
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Telomere Medicine & Life Sciences
Embryonic Structures Medicine & Life Sciences
Citrullinemia Medicine & Life Sciences
Disorders of Sex Development Medicine & Life Sciences
Corticotropin-Releasing Hormone Medicine & Life Sciences

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Grants 2002 2020

Research Output 1993 2016

  • 1346 Citations
  • 17 Scopus h-Index
  • 39 Article
  • 5 Review article
  • 2 Comment/debate
  • 2 Letter

CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype

Dixon, M. W., Stem, M. S., Schuette, J. L., Keegan, C. E. & Besirli, C. G. Oct 1 2016 In : Ophthalmic Genetics. 37, 4, p. 468-470 3 p.

Research output: Contribution to journalLetter

Phenotype
Mutation
2 Citations

De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome

Srivastava, A., Ritesh, K. C., Tsan, Y. C., Liao, R., Su, F., Cao, X., Hannibal, M. C., Keegan, C. E., Chinnaiyan, A. M., Martin, D. M. & Bielas, S. L. Feb 1 2016 In : Human Molecular Genetics. 25, 3, p. 597-608 12 p., ddv499

Research output: Contribution to journalArticle

Comb and Wattles
Mutation
Fibroblasts
Genes
Language Development Disorders

Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management

Hipp, L. E., Mohnach, L. H., Wei, S., Thomas, I. H., Elhassan, M. E., Sandberg, D. E., Quint, E. H. & Keegan, C. E. Jan 1 2016 In : American Journal of Medical Genetics, Part A. 170, 1, p. 233-238 6 p.

Research output: Contribution to journalArticle

Gonadoblastoma
Abnormal Karyotype
Disorders of Sex Development
Mosaicism
Fertility
1 Citations

The Lived Experience of MRKH: Sharing Health Information with Peers

Ernst, M. E., Sandberg, D. E., Keegan, C., Quint, E. H., Lossie, A. C. & Yashar, B. M. Apr 1 2016 In : Journal of Pediatric and Adolescent Gynecology. 29, 2, p. 154-158 5 p.

Research output: Contribution to journalArticle

Disclosure
Health Personnel
Self Disclosure
Information Dissemination
Self-Help Groups
2 Citations

The shelterin complex and hematopoiesis

Jones, M., Bisht, K., Savage, S. A., Nandakumar, J., Keegan, C. E. & Maillard, I. May 2 2016 In : Journal of Clinical Investigation. 126, 5, p. 1621-1629 9 p.

Research output: Contribution to journalReview article

Telomere
Hematopoiesis
Telomeric Repeat Binding Protein 1
Dyskeratosis Congenita
Mammalian Chromosomes