Concepedia

Karen Stephens

KS

Statistics

Publications

35

Citations

2.1K

H-Index

26

Active since

1978

Affiliations

University of Washington(Current)

University of Washington Medical Center

Seattle University

University of Utah

University of California, San Francisco

Karen Stephens is an author at University of Washington specializing in life sciences, genetics, and molecular genetics.

Publications per year

1978–2021

35

Publications

35

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

Lucille M. Kayes, Wylie Burke, Vincent M. Riccardi et al. · PubMed · 1994 · 211 citations

, , +11

Identification of NF1 mutations in both alleles of a dermal neurofibroma

Shunichi Sawada, Scott R. Florell, Smita M. Purandare et al. · Nature Genetics · 1996 · 175 citations

, , +12

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

Karen Stephens, Lucille M. Kayes, VincentM. Riccardi et al. · Human Genetics · 1992 · 130 citations

, , +10

Familial neurofibromatosis 1 microdeletions: Cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata

Kathleen A. Leppig, Paige Kaplan, David Viskochil et al. · American Journal of Medical Genetics · 1997 · 118 citations

, , +13

ABCA12 Is the Major Harlequin Ichthyosis Gene

Anna Thomas, Tom Cullup, Elizabeth E. Norgett et al. · Journal of Investigative Dermatology · 2006 · 115 citations · Full text

, , +9

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