Fingerprint Fingerprint is based on mining the text of the person's 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
Disorders of Sex Development Medicine & Life Sciences
Embryonic Structures Medicine & Life Sciences
Citrullinemia Medicine & Life Sciences
Corticotropin-Releasing Hormone Medicine & Life Sciences

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Grants 2002 2020

Research Output 1993 2017

  • 1463 Citations
  • 17 h-Index
  • 43 Article
  • 6 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: Research - peer-reviewArticle

Disorders of Sex Development
Practice Management
Surveys and Questionnaires
Patient Care
Pediatrics
1 Citations

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

Délot, E. C. , Papp, J. C. , Délot, E. C. , Fox, M. , Grody, W. , Lee, H. , Papp, J. C. , Vilain, E. , Keegan, C. , Ramsdell, L. , Green, J. , Barseghyan, H. , Dorrani, N. , Mohnach, L. , Pearson, M. A. , Diaz, J. , Leon, E. , Hopkin, R. J. , Johnson, J. , Saal, H. & 6 others Amarillo, I., Adam, M., Sandberg, D. E., Vilain, E., DSD-TRN Genetics Workgroup & DSD-TRN Genetics Workgroup Jun 1 2017 In : Endocrinology and Metabolism Clinics of North America. 46, 2, p. 519-537 19 p.

Research output: Research - peer-reviewReview article

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

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: Research - peer-reviewArticle

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: Research - peer-reviewArticle

Disorders of Sex Development
Pseudovaginal Perineoscrotal Hypospadias
Parturition
Puberty
Genitalia
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: Research - peer-reviewLetter

Phenotype
Mutation
Familial Exudative Vitreoretinopathy