Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

Autor: Sarah E.M. Stephenson, Gregory Costain, Laura E.R. Blok, Michael A. Silk, Thanh Binh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally A. Lynch, Aditi Gupta, Kristen J. Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine E. Agre, Ilana Chilton, Wendy K. Chung, Anya Revah-Politi, P.Y. Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas-Rothschild, Bruria Ben Zeev, Ortal Barel, Sebastien Moutton, Fanny Morice-Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange-line Bruel, Kerith-Rae Dias, Carey-Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua J. Baker, Ingrid E. Scheffer, Fiona J. Gardiner, Amy L. Schneider, Alison M. Muir, Heather C. Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amelie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Suk-Ying Goh, Christopher Richmond, David J. Amor, Jessica O. Boyce, Angela T. Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kári Stefánsson, Hans Tómas Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher, Annette Schenck, Paul J. Lockhart, John Christodoulou, Tiong Yang Tan

Publikováno v: TUDP Study Group & Broad Center for Mendelian Genomics 2022, ' Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome ', American journal of human genetics, vol. 109, no. 4, pp. 601-617 . https://doi.org/10.1016/j.ajhg.2022.03.002
American Journal of Human Genetics, 109, 601-617
Am J Hum Genet
American journal of human genetics, 109(4), 601-617. Cell Press
American Journal of Human Genetics, 109, 4, pp. 601-617

Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7), a recognized developmental regulator and tumor suppressor, has been s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86d68479414d6d44e2d08be3692959a
https://doi.org/10.1016/j.ajhg.2022.03.002

Evaluating the Impacts of Dam Construction and Longshore Transport upon Modern Sedimentation within the Rio Grande Delta (Texas, U.S.A.)

Autor: Samantha Moore, Jude A. Benavides, Marty Grove, Elizabeth A. Heise, Anthony Reisinger

Publikováno v: Journal of Coastal Research. 37

Moore, S.; Heise, E.A.; Grove, M.; Reisinger, A., and Benavides, J.A., 2021. Evaluating the impacts of dam construction and longshore transport upon modern sedimentation within the Rio Grande Delta (Texas, U.S.A.). Journal of Coastal Research, 37(1),

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::65c8012f5c68f81c181c7980c39e2046
https://doi.org/10.2112/jcoastres-d-20-00049.1

INCREASING THE DIVERSITY IN THE FACULTY AT A GROWING EMERGING RESEARCH INSTITUTION

Autor: Elizabeth A. Heise

Publikováno v: Geological Society of America Abstracts with Programs.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7d9c0d223c4dd85246643dc9faba4d51
https://doi.org/10.1130/abs/2017am-307629

LONGITUDINAL AND TEMPORAL COMPARISION OF BEACH SAND ON THE RIO GRANDE DELTA SYSTEM

Autor: Elizabeth A. Heise, Samantha Moore, Marty Grove

Publikováno v: Geological Society of America Abstracts with Programs.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::719a172539caa4e6f8bcb79e2be83a7b
https://doi.org/10.1130/abs/2017am-307522

STIMULATING HISPANIC PARTICIPATION IN THE GEOSCIENCES (SHIP-GEO) AT RIO GRANDE VALLEY IN SOUTH TEXAS

Autor: Frank Dirrigl, Jude A. Benavides, James Hinthorne, Chu-Lin Cheng, Jihoon Kang, Carlos E. Cintra-Buenrostro, Juan L. Gonzalez, Elizabeth A. Heise

Publikováno v: Geological Society of America Abstracts with Programs.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fa4a798164e8990335fa2e8aca9be2fd
https://doi.org/10.1130/abs/2016am-286199