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Ann Haskins Olney
Researcher at University of Nebraska Medical Center
Publications - 43
Citations - 2217
Ann Haskins Olney is an academic researcher from University of Nebraska Medical Center. The author has contributed to research in topics: Pallister–Hall syndrome & Mutation. The author has an hindex of 22, co-authored 43 publications receiving 2029 citations. Previous affiliations of Ann Haskins Olney include University of Nebraska–Lincoln & University of Nebraska Omaha.
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GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome.
TL;DR: Two PHS families with frameshift mutations in GLI3 that are 3′ of the zinc finger-encoding domains are reported, including one family with a de novo mutation, which implicate mutations inGLI3 as the cause of autosomal dominant PHS, and suggest that frameshIFT mutations of the GLi3 transcription factor gene can alter the development of multiple organ systems in vertebrates.
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Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome
Rosanna Weksberg,Cheryl Shuman,Oana Caluseriu,Adam C. Smith,Yan-Ling Fei,Joy L. Nishikawa,Tracy Stockley,Lyle Best,David Chitayat,Ann Haskins Olney,Elizabeth Ives,Adele Schneider,Timothy H. Bestor,Madeline Li,Paul D. Sadowski,Jeremy A. Squire +15 more
TL;DR: It is shown here that the incidence of female monozygotic twins among patients with BWS is dramatically increased over that of the general population, and that KCNQ1OT1 is especially vulnerable to a loss of imprinting event at a critical stage of preimplantation development.
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Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3
Carlos Cardoso,Richard J. Leventer,Richard J. Leventer,Heather L. Ward,Kazuhito Toyo-oka,June Chung,Alyssa Gross,Christa Lese Martin,J E Allanson,Daniela T. Pilz,Ann Haskins Olney,Osvaldo M. Mutchinick,Shinji Hirotsune,Anthony Wynshaw-Boris,William B. Dobyns,David H. Ledbetter +15 more
TL;DR: It is shown that the critical region that differentiates ILS from MDS at the molecular level can be reduced to 400 kb, and eight genes that are consistently deleted in patients classified as having MDS are identified.
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De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
Dianna M. Milewicz,John R. Østergaard,Leena Ala-Kokko,Nadia Khan,Dorothy K. Grange,Roberto Mendoza-Londono,Timothy J. Bradley,Ann Haskins Olney,Lesley C. Adès,Joseph F. Maher,Dongchuan Guo,L. Maximilian Buja,Dong H. Kim,James C. Hyland,Ellen S. Regalado +14 more
TL;DR: A unique and de novo mutation in ACTA2, R179H, is reported here on a syndrome characterized by dysfunction of SMCs throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension.
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Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
Karen W. Gripp,Cynthia J. Curry,Ann Haskins Olney,Claudio Sandoval,Jamie Fisher,Jessica X. Chong,Lisa Pilchman,Rebecca Sahraoui,Deborah L. Stabley,Katia Sol-Church +9 more
TL;DR: The phenotype combining features of TCS with DBA is genetically heterogeneous and each of the pathogenic variants identified is predicted to impede ribosome biogenesis, which in turn could result in altered cell growth and proliferation, causing abnormal embryologic development, defective erythropoiesis and reduced growth.