Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Laura Schultz‐Rogers"'
Autor:
Jeanine Ruggeri, Billie Carstens, Veronica McDaniel, Christine Henderson, Hala Nijmeh, Patricia Trevisan, Sudabeh Balakhani, Kimberly Harding, Aline Murakami-Walter, Alexandra Ohene-Mobley, Karen Swisshelm, Stephen Wicks, Laura Schultz-Rogers, Mary Haag
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101004- (2024)
Externí odkaz:
https://doaj.org/article/1926f52cb097426a85850f245ac057d6
Autor:
Rory Olson, Alejandro Ferrer, Patrick Duffy, Filippo Pinto E Vairo, Laura Schultz-Rogers, Erica Macke, Stephanie Safgren, Joel Morales-Rosado, Gavin Oliver, Lisa Schimmenti, Eva Kahn, Myra Wick, Ralitza Gavrilova, Michael Meiners, David Rider, Megan Williams, Eric Klee
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100703- (2023)
Externí odkaz:
https://doaj.org/article/2a9081f435c94a41954074cdb8437e04
Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report
Autor:
Laura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto e Vairo, Eric W. Klee, Brendan Lanpher
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenotype, the clinical s
Externí odkaz:
https://doaj.org/article/8184bd3472574ff0852a9d101a250343
Autor:
Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Pisani, Conceicao Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Gueden, Omer Bar-Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago-Sim, Richard E. Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong-Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael A. Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad M. Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz-Rogers, Eric W. Klee, David Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier Gonzalez-Peñas, Angel Carracedo, Arie Van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Heron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, SYNAPS Study Group, Miquel Raspall-Chaure, Michael Chez, Anne Tsai, Emily Fassi, Marwan Shinawi, John N. Constantino, Rita De Zorzi, Sara Fortuna, Fernando Kok, Boris Keren, Dominique Bonneau, Murim Choi, Bruria Benzeev, Federico Zara, Heather C. Mefford, Ingrid E. Scheffer, Jill Clayton-Smith, Alfons Macaya, James E. Rothman, Evan E. Eichler, Dimitri M. Kullmann, Henry Houlden
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Genetic variants in ionotropic glutamate receptors have been implicated in neurodevelopmental disorders. Here, the authors report heterozygous de novo mutations in the GRIA2 gene in 28 individuals with intellectual disability and neurodevelopmental a
Externí odkaz:
https://doaj.org/article/67fdcf82e84544e095b6c7c81e0bd8ff
Autor:
Laura Schultz‐Rogers, Ikuo Masuho, Filippo Pinto e Vairo, Christopher T. Schmitz, Tanya L. Schwab, Karl J. Clark, Lauren Gunderson, Pavel N. Pichurin, Klaas Wierenga, Kirill A. Martemyanov, Eric W. Klee
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background GNB1 encodes a subunit of a heterotrimeric G‐protein complex that transduces intracellular signaling cascades. Disruptions to the gene have previously been shown to be embryonic lethal in knockout mice and to cause complex neuro
Externí odkaz:
https://doaj.org/article/fe7e66d8dd3c450096d3d2ed8e80544c
Autor:
Laura Schultz-Rogers, Francis P. Lach, Kimberly A. Rickman, Alejandro Ferrer, Abhishek A. Mangaonkar, Tanya L. Schwab, Christopher T. Schmitz, Karl J. Clark, Nikita R. Dsouza, Michael T. Zimmermann, Mark Litzow, Nicole Jacobi, Eric W. Klee, Agata Smogorzewska, Mrinal M. Patnaik
Publikováno v:
Haematologica, Vol 106, Iss 4 (2020)
Externí odkaz:
https://doaj.org/article/beb550a59f7b428c94671a0f636897b2
Autor:
Lauren O'Grady, Samantha A. Schrier Vergano, Trevor L. Hoffman, Dean Sarco, Sara Cherny, Emily Bryant, Laura Schultz‐Rogers, Wendy K. Chung, Stephanie Sacharow, Ladonna L. Immken, Susan Holder, Rebecca R. Blackwell, Catherine Buchanan, Roman Yusupov, François Lecoquierre, Anne‐Marie Guerrot, Lance Rodan, Bert B. A. de Vries, Erik Jan Kamsteeg, Fernando Santos Simarro, Maria Palomares‐Bralo, Natasha Brown, Lynn Pais, Alejandro Ferrer, Eric W. Klee, Dusica Babovic‐Vuksanovic, Lindsay Rhodes, Richard Person, Amber Begtrup, Jennifer Keller‐Ramey, Teresa Santiago‐Sim, Rhonda E. Schnur, David A. Sweetser, Nina B. Gold
Publikováno v:
American Journal of Medical Genetics. Part A, 188, 9, pp. 2750-2759
American Journal of Medical Genetics. Part A, 188, 2750-2759
American Journal of Medical Genetics. Part A, 188, 2750-2759
Contains fulltext : 282684.pdf (Publisher’s version ) (Closed access) The pre-mRNA-processing factor 8, encoded by PRPF8, is a scaffolding component of a spliceosome complex involved in the removal of introns from mRNA precursors. Previously, heter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b18646a505c76b23692e3a8d5bfa0148
https://doi.org/10.1002/ajmg.a.62772
https://doi.org/10.1002/ajmg.a.62772
Autor:
Judith Bluvstein, Suneeta Madan-Khetarpal, Daniel Groepper, Theodore Sheehan, Michael J. Lyons, Louise Bier, Julie Fleischer, Annapurna Poduri, Lynn Pais, Pascal Joset, Elena Infante, Evan H. Baugh, David Goldstein, Tristan T. Sands, Katharina Steindl, Pim Suwannarat, Cyril Mignot, Boris Keren, Matthew J. Ferber, Laura Schultz-Rogers, Natalie Lippa, Linda Hasadsri, Vinodh Narayanan, Maureen S. Mulhern, Alejandra Vasquez, Claudia A. L. Ruivenkamp, Marleen Simon, Susan M. White, Vimla Aggarwal, Eric W. Klee, Kristine K. Bachman, Lindsay C. Burrage, Caroline Nava, Nicholas Stong, Neil A. Hanchard, Josephine S.C. Chong, Anita Rauch, Renee Bend, Erin L. Heinzen, Sulagna Kushary, Marije Koopmans, Marissa S. Ellingson, Keri Ramsey, Raymond Yeh, Michelle E. Ernst, Ellen van Binsbergen, Sarah S. Barnett, Amanda Thomas, Kristin G. Monaghan, Eva H. Brilstra, Magalie S. Leduc, Weimin Bi, Jennifer A. Lee, Cigdem I. Akman, Sophie Mathieu, Andrea H. Seeley, Grazia M. S. Mancini
Publikováno v:
Epilepsia
Epilepsia, 62(7), e103-e109. Wiley-Blackwell Publishing Ltd
Epilepsia, 62(7), E103-E109. WILEY
Epilepsia, 62(7), e103-e109. Wiley-Blackwell Publishing Ltd
Epilepsia, 62(7), E103-E109. WILEY
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow-up for many of the previously reported cases, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ff1f7a4791f249c8207fa1b00bd1a82
https://pure.eur.nl/en/publications/397106a8-1886-4437-9d53-67a1bb04cf25
https://pure.eur.nl/en/publications/397106a8-1886-4437-9d53-67a1bb04cf25
Autor:
Gavin R. Oliver, Jennifer L. Kemppainen, Ashley N. Sigafoos, Konstantinos N. Lazaridis, Megan M. Hager, Teresa M. Kruisselbrink, Jessica Jackson, Jessica M. Tarnowski, Laura Rust, Nicole J. Boczek, Cherisse A. Marcou, Nicole L. Bertsch, Marissa S. Ellingson, Pavel N. Pichurin, Brendan C. Lanpher, Sarah K. Macklin-Mantia, Dusica Babovic-Vuksanovic, Gianrico Farrugia, Eva Morava-Kozicz, Aditi Gupta, Lauren Gunderson, Paldeep S. Atwal, Jolene M. Summer Bolster, Michael T. Zimmermann, Marine I. Murphree, A. Keith Stewart, Carrie A. Lahner, Tanya L. Schwab, Zhiyv Niu, Tammy M. McAllister, Matthew J. Ferber, Lindsay A. Mulvihill, Ralitza H. Gavrilova, Kristen J. Rasmussen, Laura Schultz-Rogers, Sarah A. Kroc, Carri A. Prochnow, Scott A. Beck, Joel A. Morales-Rosado, Garrett Jenkinson, Eric W. Klee, Filippo Vairo, Karl J. Clark, Stacy L. Aoudia, Katherine Agre, Rebecca J. Lowy, David R. Deyle, Alejandro Ferrer, Erica L. Macke, Lisa A. Schimmenti, Sarah S. Barnett, Laura J. Fisher, Margot A. Cousin, Rory J. Olson, Radhika Dhamija, Linda Hasadsri, Patrick R. Blackburn, Raul Urrutia, Charu Kaiwar, Klaas J. Wierenga
Publikováno v:
Genetics in Medicine. 25:100359
Purpose Exome sequencing often identifies pathogenic genetic variants in patients with undiagnosed diseases. Nevertheless, frequent findings of variants of uncertain significance necessitate additional efforts to establish causality before reaching a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed701e7ad61196d0260a02ac5deae04a
https://doi.org/10.1016/j.gim.2022.12.006
https://doi.org/10.1016/j.gim.2022.12.006
Autor:
Aidin Foroutan, Bekim Sadikovic, Celeste Panteghini, Simone Pizzi, Evelina Miele, Federica Invernizzi, Maria Iascone, Paolo Prontera, Lucia Pedace, Vincenzo Leuzzi, Maria Francesca Bedeschi, Giovanna Zorzi, Marco Tartaglia, Rory J. Olson, Chiara Reale, Marcello Niceta, Laura Schultz-Rogers, Paola Soliveri, Andrea Ciolfi, Matteo Garibaldi, Alessandro Capuano, Emanuele Agolini, Ralitza H. Gavrilova, Barbara Garavaglia, Marco Andreani, Serena Galosi, Lorena Travaglini
Publikováno v:
Paediatrics Publications
Clinical Epigenetics
Clinical Epigenetics
BackgroundDystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements and/or postures. Heterozygous variants in lysine methyltra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5a5fff3a0c65195efd70cd21ad8c892
https://doi.org/10.1186/s13148-021-01145-y
https://doi.org/10.1186/s13148-021-01145-y