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Richard W. McCombie
Researcher at Cold Spring Harbor Laboratory
Publications - 20
Citations - 9626
Richard W. McCombie is an academic researcher from Cold Spring Harbor Laboratory. The author has contributed to research in topics: Genome & Genomics. The author has an hindex of 16, co-authored 20 publications receiving 9058 citations.
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Journal ArticleDOI
PTEN, a Putative Protein Tyrosine Phosphatase Gene Mutated in Human Brain, Breast, and Prostate Cancer
Jing Li,Clifford Yen,Danny Liaw,Katrina Podsypanina,Shikha Bose,Steven I. Wang,Janusz Puc,Christa Miliaresis,Linda Rodgers,Richard W. McCombie,Sandra H. Bigner,Beppino C. Giovanella,Michael Ittmann,B. Tycko,Hanina Hibshoosh,Michael Wigler,Ramon Parsons +16 more
TL;DR: The PTEN product has a protein tyrosine phosphatase domain and extensive homology to tensin, a protein that interacts with actin filaments at focal adhesions as discussed by the authors.
Journal ArticleDOI
De Novo Gene Disruptions in Children on the Autistic Spectrum
Ivan Iossifov,Michael Ronemus,Dan Levy,Zihua Wang,Inessa Hakker,Julie Rosenbaum,Boris Yamrom,Yoon-ha Lee,Giuseppe Narzisi,Anthony Leotta,Jude Kendall,Ewa A. Grabowska,Beicong Ma,Steven Marks,Linda Rodgers,Asya Stepansky,Jennifer Troge,Peter Andrews,Mitchell A. Bekritsky,Kith Pradhan,Elena Ghiban,Melissa Kramer,Jennifer Parla,Ryan Demeter,Lucinda Fulton,Robert S. Fulton,Vincent Magrini,Kenny Ye,Jennifer C. Darnell,Robert B. Darnell,Robert B. Darnell,Elaine R. Mardis,Richard K. Wilson,Michael C. Schatz,Richard W. McCombie,Michael Wigler +35 more
TL;DR: Exome sequencing of 343 families, each with a single child on the autism spectrum and at least one unaffected sibling, reveals de novo small indels and point substitutions, which suggest FMRP-associated genes are especially dosage-sensitive targets of cognitive disorders.
Journal ArticleDOI
Inactivation of the apoptosis effector Apaf-1 in malignant melanoma.
Maria S. Soengas,Paola Capodieci,David Polsky,Jaume Mora,Manel Esteller,Ximena Opitz-Araya,Richard W. McCombie,James G. Herman,William L. Gerald,Yuri Lazebnik,Carlos Cordon-Cardo,Scott W. Lowe +11 more
TL;DR: It is concluded that Apaf-1 is inactivated in metastatic melanomas, which leads to defects in the execution of apoptotic cell death, which may contribute to the low frequency of p53 mutations observed in this highly chemoresistant tumour type.
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Maize HapMap2 identifies extant variation from a genome in flux
Jer Ming Chia,Chi Song,Peter J. Bradbury,Peter J. Bradbury,Denise E. Costich,Denise E. Costich,Natalia de Leon,Natalia de Leon,John Doebley,Robert J. Elshire,Brandon S. Gaut,Laura Geller,Jeffrey C. Glaubitz,Michael A. Gore,Kate E. Guill,Kate E. Guill,James B. Holland,James B. Holland,Matthew B. Hufford,Jinsheng Lai,Meng Li,Xin Liu,Yanli Lu,Richard W. McCombie,Rebecca Nelson,Jesse Poland,Jesse Poland,Boddupalli M. Prasanna,Tanja Pyhäjärvi,Tingzhao Rong,Rajandeep S. Sekhon,Rajandeep S. Sekhon,Qi Sun,Maud I. Tenaillon,Maud I. Tenaillon,Feng Tian,Jun Wang,Xun Xu,Zhiwu Zhang,Shawn M. Kaeppler,Shawn M. Kaeppler,Jeffrey Ross-Ibarra,Michael D. McMullen,Michael D. McMullen,Edward S. Buckler,Edward S. Buckler,Gengyun Zhang,Yunbi Xu,Doreen Ware,Doreen Ware +49 more
TL;DR: It is found that structural variations are pervasive in the Z. mays genome and are enriched at loci associated with important traits and the larger Tripsacum genome can be explained by transposable element abundance rather than an allopolyploid origin.
Journal ArticleDOI
A genome triplication associated with early diversification of the core eudicots
Yuannian Jiao,Jim Leebens-Mack,Saravanaraj Ayyampalayam,John E. Bowers,Michael R. McKain,Joel R. McNeal,Joel R. McNeal,Megan Rolf,Daniel R. Ruzicka,Eric K. Wafula,Norman J. Wickett,Xiaolei Wu,Yong Zhang,Jun Wang,Jun Wang,Yeting Zhang,Eric J. Carpenter,Michael K. Deyholos,Toni M. Kutchan,André S. Chanderbali,Pamela S. Soltis,Dennis W. Stevenson,Richard W. McCombie,J. C. Pires,Gane Ka-Shu Wong,Gane Ka-Shu Wong,Douglas E. Soltis,Claude W. dePamphilis +27 more
TL;DR: The rapid radiation of core eudicot lineages that gave rise to nearly 75% of angiosperm species appears to have occurred coincidentally or shortly following the gamma triplication event.