Concepedia

William A. Paznekas

WA

Statistics

Publications

22

Citations

3K

H-Index

19

Active since

1977

Affiliations

Johns Hopkins University(Current)

Johns Hopkins Medicine

University of Washington

University of Maryland, Baltimore

Duke Medical Center

William A. Paznekas is an author at Johns Hopkins University specializing in life sciences, genetics, and molecular genetics.

Publications per year

1977–2012

22

Publications

22

Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome

Timothy D. Howard, William A. Paznekas, Eric D. Green et al. · Nature Genetics · 1997 · 656 citations

, , +6

Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

William A. Paznekas, Simeon A. Boyadjiev, Robert E. Shapiro et al. · The American Journal of Human Genetics · 2003 · 628 citations · Full text

, , +12

Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations

William A. Paznekas, Michael L. Cunningham, Timothy D. Howard et al. · The American Journal of Human Genetics · 1998 · 221 citations · Full text

, , +17

Fibroblast growth factor receptor 2 mutations in Beare–Stevenson cutis gyrata syndrome

Kelly A. Przylepa, William A. Paznekas, Minghuang Zhang et al. · Nature Genetics · 1996 · 190 citations

, , +11

<i>TCOF1</i> gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region

Carol A. Wise, Lydia C. Chiang, William A. Paznekas et al. · Proceedings of the National Academy of Sciences · 1997 · 171 citations · Full text

, , +14

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