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Wendy Schackwitz
Researcher at Joint Genome Institute
Publications - 26
Citations - 2734
Wendy Schackwitz is an academic researcher from Joint Genome Institute. The author has contributed to research in topics: Genome & Population. The author has an hindex of 17, co-authored 26 publications receiving 2440 citations. Previous affiliations of Wendy Schackwitz include United States Department of Energy & Lawrence Berkeley National Laboratory.
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Journal ArticleDOI
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
Marco Tartaglia,Len A. Pennacchio,Len A. Pennacchio,Chen Zhao,Kamlesh K Yadav,Valentina Fodale,Anna Sarkozy,Anna Sarkozy,Bhaswati Pandit,Kimihiko Oishi,Simone Martinelli,Wendy Schackwitz,Wendy Schackwitz,Anna Ustaszewska,Joel Martin,Joel Martin,James Bristow,James Bristow,Claudio Carta,Francesca Romana Lepri,Francesca Romana Lepri,Cinzia Neri,Cinzia Neri,Isabella Vasta,Kate Gibson,Cynthia J. Curry,Juan Pedro López Siguero,Maria Cristina Digilio,Giuseppe Zampino,Bruno Dallapiccola,Bruno Dallapiccola,Dafna Bar-Sagi,Bruce D. Gelb +32 more
TL;DR: In this paper, the authors reported that 22 of 129 NoNoonan syndrome (NS) patients without PTPN11 or KRAS mutation (17 percent) have missense mutations in SOS1, which encodesa RAS-specific guanine nucleotide exchange factor (GEF).
Journal Article
Gain-of-function SOS1 mutations cause a distinctive form of noonan syndrome
Marco Tartaglia,Len A. Pennacchio,Len A. Pennacchio,Chen Zhao,Kamlesh K Yadav,Valentina Fodale,Anna Sarkozy,Anna Sarkozy,Bhaswati Pandit,Kimihiko Oishi,Simone Martinelli,Wendy Schackwitz,Wendy Schackwitz,Anna Ustaszewska,Joel Martin,Joel Martin,James Bristow,James Bristow,Claudio Carta,Francesca Romana Lepri,Francesca Romana Lepri,Cinzia Neri,Cinzia Neri,Isabella Vasta,Kate Gibson,Cynthia J. Curry,Juan Pedro López Siguero,Maria Cristina Digilio,Giuseppe Zampino,Bruno Dallapiccola,Bruno Dallapiccola,Dafna Bar-Sagi,Bruce D. Gelb +32 more
TL;DR: It is reported that 22 of 129 individuals with Noonan syndrome without PTPN11 or KRAS mutation have missense mutations in SOS1, which encodes a RAS-specific guanine nucleotide exchange factor, and this finding defines a new mechanism by which upregulation of the RAS pathway can profoundly change human development.
Journal ArticleDOI
Population genomics of Populus trichocarpa identifies signatures of selection and adaptive trait associations
Luke M. Evans,Gancho T. Slavov,Eli Rodgers-Melnick,Joel Martin,Priya Ranjan,Wellington Muchero,Amy M. Brunner,Wendy Schackwitz,Lee E. Gunter,Jin-Gui Chen,Gerald A. Tuskan,Stephen P. DiFazio +11 more
TL;DR: A combination of whole-genome selection scans and association analyses of Populus trichocarpa trees are used to reveal genomic bases of adaptive variation across a wide latitudinal range, providing unexpected insights into the evolutionary dynamics of duplicated genes and their roles in adaptive trait variation.
Journal ArticleDOI
Extensive gene content variation in the Brachypodium distachyon pan-genome correlates with population structure
Sean P. Gordon,Bruno Contreras-Moreira,Daniel P. Woods,Daniel P. Woods,David L. Des Marais,David L. Des Marais,Diane Burgess,Shengqiang Shu,Christoph Stritt,Anne C. Roulin,Wendy Schackwitz,Ludmila Tyler,Joel Martin,Anna Lipzen,Niklas Dochy,Jeremy Phillips,Kerrie Barry,Koen Geuten,Hikmet Budak,Thomas E. Juenger,Richard M. Amasino,Richard M. Amasino,Ana L. Caicedo,David Goodstein,Patrick Davidson,Luis A. J. Mur,Melania Figueroa,Michael Freeling,Pilar Catalán,Pilar Catalán,John P. Vogel,John P. Vogel +31 more
TL;DR: The data suggest that differentially present genes contribute substantially to phenotypic variation within a eukaryote species, these genes have a major influence in population genetics, and transposable elements play a key role in pan-genome evolution.
Journal ArticleDOI
One Bacterial Cell, One Complete Genome
Tanja Woyke,Damon Tighe,Konstantinos Mavromatis,Alicia Clum,Alex Copeland,Wendy Schackwitz,Alla Lapidus,Dongying Wu,John P. McCutcheon,Bradon R. McDonald,Nancy A. Moran,James Bristow,Jan Fang Cheng +12 more
TL;DR: This study demonstrates the power of single cell genomics to generate a complete, high quality, non-composite reference genome within an environmental sample, which can be used for population genetic analyzes.