William A. Paznekas

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 · 654 citations

Mendelian Disorder, Genetic Disorder, Genetics +4

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 · 625 citations · Full text

Developmental Biology, Mendelian Disorder, Mutations Cause +8

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 · 218 citations · Full text

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 · 189 citations

Growth Hormone, Human Growth, Genetic Disorder +6

<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 · 170 citations · Full text

Genetics, Collins Syndrome, Genomic Mechanism +20