M
Matthew A. Deardorff
Researcher at University of Southern California
Publications - 172
Citations - 9308
Matthew A. Deardorff is an academic researcher from University of Southern California. The author has contributed to research in topics: Cornelia de Lange Syndrome & NIPBL. The author has an hindex of 42, co-authored 163 publications receiving 7870 citations. Previous affiliations of Matthew A. Deardorff include Children's Hospital of Philadelphia & University of Pennsylvania.
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Journal ArticleDOI
A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome
Marjorie J. Lindhurst,Julie C Sapp,Jamie K. Teer,Jennifer J. Johnston,Erin M Finn,Kathryn F. Peters,Joyce T. Turner,Jennifer L. Cannons,David P. Bick,Laurel C Blakemore,Catherine Blumhorst,Knut Brockmann,Peter Calder,Natasha Cherman,Matthew A. Deardorff,David B. Everman,Gretchen Golas,Robert M. Greenstein,B. Maya Kato,Kim M. Keppler-Noreuil,Sergei A. Kuznetsov,Richard T. Miyamoto,Kurt D. Newman,David Ng,Kevin O'Brien,Steven S. Rothenberg,Douglas J. Schwartzentruber,Virender Singhal,Roberto Tirabosco,Joseph Upton,Shlomo Wientroub,Elaine H. Zackai,Kimberly Hoag,Tracey Whitewood-Neal,Pamela Gehron Robey,Pamela L. Schwartzberg,Thomas N. Darling,Laura L. Tosi,James C. Mullikin,Leslie G. Biesecker +39 more
TL;DR: In this article, exome sequencing of DNA from biopsy samples obtained from patients with the Proteus syndrome and compared the resultant DNA sequences with those of unaffected tissues obtained from the same patients were performed.
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
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
Matthew A. Deardorff,Masashige Bando,Ryuichiro Nakato,Erwan Watrin,Takehiko Itoh,Masashi Minamino,Katsuya Saitoh,Makiko Komata,Yuki Katou,Dinah Clark,Kathryn E. Cole,Elfride De Baere,Christophe Decroos,Nataliya Di Donato,Sarah Ernst,Lauren J. Francey,Yolanda Gyftodimou,Kyotaro Hirashima,Melanie Hullings,Yuuichi Ishikawa,Christian Jaulin,Maninder Kaur,Tohru Kiyono,Patrick M. Lombardi,Laura Magnaghi-Jaulin,Geert Mortier,Naohito Nozaki,Michael B. Petersen,Hiroyuki Seimiya,Victoria Mok Siu,Yutaka Suzuki,Kentaro Takagaki,Jonathan J. Wilde,Patrick Willems,Claude Prigent,Gabriele Gillessen-Kaesbach,David W. Christianson,Frank J. Kaiser,Laird G. Jackson,Toru Hirota,Ian D. Krantz,Katsuhiko Shirahige +41 more
TL;DR: HDRAC8 is identified as the vertebrate SMC3 deacetylase, as well as loss-of-function HDAC8 mutations in six CdLS probands, which results in increased SMC 3 acetylation and inefficient dissolution of the ‘used’ cohesin complex released from chromatin in both prophase and anaphase.
Journal ArticleDOI
Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation
Matthew A. Deardorff,Matthew A. Deardorff,Maninder Kaur,Dinah Yaeger,Abhinav Rampuria,Sergey Korolev,Juan Pié,Concepcion Gil-Rodríguez,María Teresa Echeverría Arnedo,Bart Loeys,Antonie D. Kline,Meredith Wilson,Kaj Lillquist,Victoria Mok Siu,Feliciano J. Ramos,Antonio Musio,Laird S. Jackson,Dale Dorsett,Ian D. Krantz,Ian D. Krantz +19 more
TL;DR: The authors' data indicate that SMC3 and SMC1A mutations contribute to approximately 5% of cases of CdLS, result in a consistently mild phenotype with absence of major structural anomalies typically associated with Cd LS, and in some instances, result with a phenotype that approaches that of apparently nonsyndromic mental retardation.
Journal ArticleDOI
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
Laura K. Conlin,Brian D. Thiel,Carsten G. Bönnemann,Livija Medne,Linda M. Ernst,Elaine H. Zackai,Matthew A. Deardorff,Ian D. Krantz,Hakon Hakonarson,Nancy B. Spinner +9 more
TL;DR: Differentiation of mitotic and meiotic origins for aneuploidy and UPD supports existence of selective factors against full trisomy of some chromosomes in the early embryo and provides data for estimation of recurrence and disease mechanisms.