Concepedia

R. Sid Wilroy

RS

35

Publications

2K

Citations

23

H-Index

1966

Active since

Affiliations

University of Tennessee Health Science Center(Current)

University of Tennessee at Knoxville

Greenwood Genetic Center

Le Bonheur Children's Hospital

University of Pennsylvania

R. Sid Wilroy is an author at University of Tennessee Health Science Center specializing in medicine, genetics, and pathology.

Top concepts

Publications per year

1966–2014

35

Publications

35

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Maximilian Muenke, Karen W. Gripp, Donna M. McDonald‐McGinn et al. · PubMed · 1997 · 394 citations

Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative RhoRac guanine nucleotide exchange factor

N.German Pasteris, Amy B. Cadle, Lindsay J. Logie et al. · Cell · 1994 · 296 citations · Full text

, , +11

Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.

Sugandhi A. Tharapel, Raymond Lewandowski, Avirachan T. Tharapel et al. · Journal of Medical Genetics · 1986 · 134 citations · Full text

, , +16

Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions.

Avirachan T. Tharapel, Kathleen P. Anderson, Joe Leigh Simpson et al. · PubMed · 1993 · 116 citations

ABCA12 Is the Major Harlequin Ichthyosis Gene

Anna Thomas, Tom Cullup, Elizabeth E. Norgett et al. · Journal of Investigative Dermatology · 2006 · 114 citations · Full text

, , +6

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