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

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Grants 2002 2020

Research Output 1993 2017

  • 1510 Citations
  • 17 h-Index
  • 43 Article
  • 6 Review article
  • 2 Comment/debate
  • 2 Letter
2 Citations

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
Patient Care
Pediatrics
Neonatology
2 Citations

Genetics of Disorders of Sex Development: The DSD-TRN Experience

DSD-TRN Genetics Workgroup Jun 1 2017 In : Endocrinology and Metabolism Clinics of North America. 46, 2, p. 519-537 19 p.

Research output: Contribution to journalReview article

Disorders of Sex Development
Inborn Genetic Diseases
Translational Medical Research
Electronic Health Records
Registries
2 Citations

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
Gonads

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

Disorders of Sex Development
Parturition
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
Familial Exudative Vitreoretinopathy