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.

  • 5 Similar Profiles
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Telomere Medicine & Life Sciences
Disorders of Sex Development Medicine & Life Sciences
Embryonic Structures Medicine & Life Sciences
Proteins Medicine & Life Sciences
Extremities Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Grants 2002 2020

Research Output 1993 2017

  • 1426 Citations
  • 17 Scopus h-Index
  • 42 Article
  • 5 Review article
  • 2 Comment/debate
  • 2 Letter

Disorders of sex development (DSD): Clinical service delivery in the United States

Rolston, A. M., Gardner, M., van Leeuwen, K., Mohnach, L., Keegan, C., Délot, E., Vilain, E., Sandberg, D. E., members of the DSD-TRN Advocacy & Advisory Network Accord Alliance Jun 1 2017 In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 175, 2, p. 268-278 11 p.

Research output: Contribution to journalArticle

Disorders of Sex Development
Practice Management
Pediatrics
Neonatology
Endocrinology

MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature

Granados, A., Alaniz, V. I., Mohnach, L., Barseghyan, H., Vilain, E., Ostrer, H., Quint, E. H., Chen, M. & Keegan, C. E. Jun 1 2017 In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 175, 2, p. 253-259 7 p.

Research output: Contribution to journalArticle

Gonadal Dysgenesis
XY Disorders of Sex Development 46
Female Genitalia
Disorders of Sex Development
Genes

Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency

Byers, H. M., Mohnach, L. H., Fechner, P. Y., Chen, M., Thomas, I. H., Ramsdell, L. A., Shnorhavorian, M., McCauley, E. A., Amies Oelschlager, A. M. E., Park, J. M., Sandberg, D. E., Adam, M. P. & Keegan, C. E. Jun 1 2017 In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 175, 2, p. 260-267 8 p.

Research output: Contribution to journalArticle

Cholestenone 5 alpha-Reductase
Disorders of Sex Development
Puberty
Genitalia
Fertility
2 Citations

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
3 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