David D. Weaver
Indiana University
5 Papers
48 Citations
David D. Weaver is an academic researcher from Indiana University. The author has contributed to research in topics: Exome sequencing & Marden–Walker syndrome. The author has an hindex of 4, co-authored 5 publications. Previous affiliations of David D. Weaver include University of Oregon & University of Washington.
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Papers
Evidence for two active X chromosomes in a human XXY triploid.
TL;DR: A human XXY chromatin negative triploid culture has been found to have both the A and B isozymes of glucose-6-phosphate dehydrogenase, as well as an intermediately migrating AB (hybrid) band, indicating that the cells in this culture each possess 2 active X chromosomes.
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The tricho-rhino-phalangeal syndrome
TL;DR: The clinical and radiological findings of four affected family members, a father and his three children, and the genetics of this condition and suggested counselling are presented.
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Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5
Margaret J. McMillin,Anita E. Beck,Anita E. Beck,Jessica X. Chong,Kathryn M. Shively,Kati J. Buckingham,Heidi I. S. Gildersleeve,Mariana Aracena,Arthur S. Aylsworth,Pierre Bitoun,John C. Carey,Carol L. Clericuzio,Yanick J. Crow,Cynthia J. Curry,Koenraad Devriendt,David B. Everman,Alan Fryer,Kate Gibson,Maria Luisa Giovannucci Uzielli,John M. Graham,Judith G. Hall,Jacqueline T. Hecht,Randall A. Heidenreich,Jane A. Hurst,Sarosh R. Irani,Ingrid P.C. Krapels,Jules G. Leroy,David Mowat,David Mowat,Gordon T. Plant,Stephen P. Robertson,Elizabeth K. Schorry,Richard H Scott,Laurie H. Seaver,Elliott H. Sherr,Miranda Splitt,Helen Stewart,Constance T. R. M. Stumpel,Sehime Gulsun Temel,Sehime Gulsun Temel,David D. Weaver,Margo Whiteford,Marc S. Williams,Holly K. Tabor,Joshua D. Smith,Jay Shendure,Deborah A. Nickerson,Michael J. Bamshad,Michael J. Bamshad +48 more
- 01 May 2014
TL;DR: Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital contractures of the hands and feet as discussed by the authors.
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Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
Margaret J. McMillin,Anita E. Beck,Anita E. Beck,Jessica X. Chong,Kathryn M. Shively,Kati J. Buckingham,Heidi I. S. Gildersleeve,Mariana Aracena,Arthur S. Aylsworth,Pierre Bitoun,John C. Carey,Carol L. Clericuzio,Yanick J. Crow,Cynthia J. Curry,Koenraad Devriendt,David B. Everman,Alan Fryer,Kate Gibson,Maria Luisa Giovannucci Uzielli,John M. Graham,Judith G. Hall,Jacqueline T. Hecht,Randall A. Heidenreich,Jane A. Hurst,Sarosh R. Irani,Ingrid P.C. Krapels,Jules G. Leroy,David Mowat,David Mowat,Gordon T. Plant,Stephen P. Robertson,Elizabeth K. Schorry,Richard H Scott,Laurie H. Seaver,Elliott H. Sherr,Miranda Splitt,Helen Stewart,Constance T. R. M. Stumpel,Sehime Gulsun Temel,Sehime Gulsun Temel,David D. Weaver,Margo Whiteford,Marc S. Williams,Holly K. Tabor,Joshua D. Smith,Jay Shendure,Deborah A. Nickerson,Michael J. Bamshad,Michael J. Bamshad +48 more
TL;DR: Findings indicate that GS, DA5, and MWS have traditionally been considered separate disorders, are etiologically related and perhaps represent variable expressivity of the same condition.
A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly
TL;DR: Two strikingly similar unrelated male children have the following pattern of anomalies: accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly.