D
David D. Weaver
Researcher at Indiana University
Publications - 131
Citations - 4484
David D. Weaver is an academic researcher from Indiana University. The author has contributed to research in topics: Microcephaly & Short stature. The author has an hindex of 34, co-authored 131 publications receiving 4133 citations. Previous affiliations of David D. Weaver include University of Geneva.
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Journal ArticleDOI
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Santhosh Girirajan,Jill A. Rosenfeld,Gregory M. Cooper,Francesca Antonacci,Priscillia Siswara,Andy Itsara,Laura Vives,Tom Walsh,Shane McCarthy,Carl Baker,Heather C Mefford,Jeffrey M. Kidd,Sharon R. Browning,Brian L. Browning,Diane E. Dickel,Deborah L. Levy,Blake C. Ballif,Kathryn Platky,Darren Farber,Gordon C. Gowans,Jessica J. Wetherbee,Alexander Asamoah,David D. Weaver,Paul R. Mark,Jennifer Dickerson,Bhuwan P. Garg,Sara Ellingwood,Rosemarie Smith,Valerie Banks,Wendy E. Smith,Marie T. McDonald,Joe J. Hoo,Beatrice N. French,Cindy Hudson,John P. Johnson,Jillian R Ozmore,John B. Moeschler,Urvashi Surti,Luis F. Escobar,Dima El-Khechen,Jerome L. Gorski,Jennifer Kussmann,Bonnie A. Salbert,Yves Lacassie,Alisha Biser,Donna M. McDonald-McGinn,Elaine H. Zackai,Matthew A. Deardorff,Tamim H. Shaikh,Eric Haan,Eric Haan,Kathryn Friend,Marco Fichera,Corrado Romano,Jozef Gecz,Jozef Gecz,Lynn E. DeLisi,Lynn E. DeLisi,Jonathan Sebat,Mary Claire King,Lisa G. Shaffer,Evan E. Eichler +61 more
TL;DR: The data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications.
Journal ArticleDOI
Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature
M. J. Pettenati,J. L. Haines,R. R. Higgins,R. S. Wappner,Catherine G. Palmer,David D. Weaver +5 more
TL;DR: Twenty-two cases of WBS were examined clinically and cytogenetically, and compared to 226 previously reported cases, finding all individuals examined were chromosomally normal with no evidence of 11p abnormality as has been reported recently.
Journal ArticleDOI
Mutations in EZH2 cause Weaver syndrome.
William T. Gibson,William T. Gibson,Rebecca L. Hood,Rebecca L. Hood,Shing Hei Zhan,Dennis E. Bulman,Anthony P. Fejes,Richard A. Moore,Andrew J. Mungall,Patrice Eydoux,Riyana Babul-Hirji,Jianghong An,Marco A. Marra,Marco A. Marra,David Chitayat,David Chitayat,Kym M. Boycott,David D. Weaver,Steven J.M. Jones,Steven J.M. Jones,Steven J.M. Jones +20 more
TL;DR: Using trio-based whole-exome sequencing to analyze two families affected by Weaver syndrome, including one of the original families reported in 1974, data show that mutations in EZH2 cause Weaver syndrome.
Journal ArticleDOI
The VATER Association: Analysis of 46 Patients
TL;DR: Evaluation of 46 patients with the VATER association indicates that in addition to the major defects seen in this association, numerous other abnormalities occur at lesser frequency.
Journal Article
The Axial Mesodermal Dysplasia Spectrum
TL;DR: It is suggested that the term, "axial mesodermal dysplasia spectrum" be used in patients manifesting this overlap to emphasize the importance of searching for the other malformations seen in this spectrum of anomalies.