Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Szabolcs, Szelinger"'
Autor:
Wai Park, Elyssa Zukin, Rachelle Manookian, Kevin McDonnell, Szabolcs Szelinger, Ali Zhumkhawala, Stacy Gray
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100959- (2024)
Externí odkaz:
https://doaj.org/article/574796aa551d4a7da1a8cbbd12348507
Autor:
Christina H. Wei, Edward Wang, Evita Sadimin, Lorna Rodriguez-Rodriguez, Mark Agulnik, Janet Yoon, Janine LoBello, Szabolcs Szelinger, Clarke Anderson
Publikováno v:
Gynecologic Oncology Reports, Vol 50, Iss , Pp 101294- (2023)
Externí odkaz:
https://doaj.org/article/d87174b9f16a4304bc0bd2d48e0addbb
Autor:
Eric Frankel, Avijit Podder, Megan Sharifi, Roshan Pillai, Newell Belnap, Keri Ramsey, Julius Dodson, Pooja Venugopal, Molly Brzezinski, Lorida Llaci, Brittany Gerald, Gabrielle Mills, Meredith Sanchez-Castillo, Chris D. Balak, Szabolcs Szelinger, Wayne M. Jepsen, Ashley L. Siniard, Ryan Richholt, Marcus Naymik, Isabelle Schrauwen, David W. Craig, Ignazio S. Piras, Matthew J. Huentelman, Nicholas J. Schork, Vinodh Narayanan, Sampathkumar Rangasamy
Publikováno v:
Cells, Vol 12, Iss 10, p 1437 (2023)
Mutations of the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2) cause classical forms of Rett syndrome (RTT) in girls. A subset of patients who are recognized to have an overlapping neurological phenotype with RTT but are lacking a mutat
Externí odkaz:
https://doaj.org/article/20acec46706042719162109c33744bd6
Autor:
Kazuo Nakajima, Alannah Miranda, David W. Craig, Tatyana Shekhtman, Stanislav Kmoch, Anthony Bleyer, Szabolcs Szelinger, Tadafumi Kato, John R. Kelsoe
Publikováno v:
Translational Psychiatry, Vol 10, Iss 1, Pp 1-13 (2020)
Abstract Previously, we reported a family in which bipolar disorder (BD) co-segregates with a Mendelian kidney disorder linked to 1q22. The causative renal gene was later identified as MUC1. Genome-wide linkage analysis of BD in the family yielded a
Externí odkaz:
https://doaj.org/article/f27b9e1bb83e49ca84843cea95c47723
Autor:
Keri Ramsey, Newell Belnap, Anna Bonfitto, Wayne Jepsen, Marcus Naymik, Meredith Sanchez‐Castillo, David W. Craig, Szabolcs Szelinger, Matthew J. Huentelman, Vinodh Narayanan, Sampath Rangasamy
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 2, Pp n/a-n/a (2022)
Externí odkaz:
https://doaj.org/article/e6b7818630924806a65e2e80cd8dda6c
Autor:
René Breuer, Manuel Mattheisen, Josef Frank, Bertram Krumm, Jens Treutlein, Layla Kassem, Jana Strohmaier, Stefan Herms, Thomas W. Mühleisen, Franziska Degenhardt, Sven Cichon, Markus M. Nöthen, George Karypis, John Kelsoe, Tiffany Greenwood, Caroline Nievergelt, Paul Shilling, Tatyana Shekhtman, Howard Edenberg, David Craig, Szabolcs Szelinger, John Nurnberger, Elliot Gershon, Ney Alliey-Rodriguez, Peter Zandi, Fernando Goes, Nicholas Schork, Erin Smith, Daniel Koller, Peng Zhang, Judith Badner, Wade Berrettini, Cinnamon Bloss, William Byerley, William Coryell, Tatiana Foroud, Yirin Guo, Maria Hipolito, Brendan Keating, William Lawson, Chunyu Liu, Pamela Mahon, Melvin McInnis, Sarah Murray, Evaristus Nwulia, James Potash, John Rice, William Scheftner, Sebastian Zöllner, Francis J. McMahon, Marcella Rietschel, Thomas G. Schulze
Publikováno v:
International Journal of Bipolar Disorders, Vol 6, Iss 1, Pp 1-10 (2018)
Abstract Background Disentangling the etiology of common, complex diseases is a major challenge in genetic research. For bipolar disorder (BD), several genome-wide association studies (GWAS) have been performed. Similar to other complex disorders, ma
Externí odkaz:
https://doaj.org/article/eebc34bafd184ebf9661b11b72caa06e
Autor:
Gargi Basu, Sameer S. Udhane, Susan Dombrowski, Lenny Hong, Fadel Alyaqoub, Michelle Barbi de Moura, Thiruppavai Chandrasekaran, Turgut Dogruluk, David Driscoll, Aimee Jalkanen, Pawan Noel, Szabolcs Szelinger, Min Wang, David Hall, Jess Hoag, Janine Lobello, Frederick Baehner, Snehal Thakkar, Joyce O’Shaughnessy
Publikováno v:
Cancer Research. 83:P5-14
Introduction/Background Endocrine therapy remains the fundamental treatment for advanced HR+ breast cancer (BC). For those patients who become refractory to endocrine therapy, resistance may be associated with mutations, amplifications, and fusions i
Autor:
Ole Kristian Drange, Olav Bjerkehagen Smeland, Alexey A. Shadrin, Per Ivar Finseth, Aree Witoelar, Oleksandr Frei, Psychiatric Genomics Consortium Bipolar Disorder Working Group, Yunpeng Wang, Sahar Hassani, Srdjan Djurovic, Anders M. Dale, Ole A. Andreassen, Eli A Stahl, Gerome Breen, Andreas J Forstner, Andrew McQuillin, Stephan Ripke, Vassily Trubetskoy, Manuel Mattheisen, Jonathan R I Coleman, Heìleìna A Gaspar, Christiaan A de Leeuw, Stacy Steinberg, Jennifer M Whitehead Pavlides, Maciej Trzaskowski, Tune H Pers, Peter A Holmans, Liam Abbott, Esben Agerbo, Huda Akil, Diego Albani, Ney Alliey-Rodriguez, Thomas D Als, Adebayo Anjorin, Verneri Antilla, Swapnil Awasthi, Judith A Badner, Marie Bækvad-Hansen, Jack D Barchas, Nicholas Bass, Michael Bauer, Richard Belliveau, Sarah E Bergen, Carsten Bøcker Pedersen, Erlend Bøen, Marco Boks, James Boocock, Monika Budde, William Bunney, Margit Burmeister, Jonas Bybjerg-Grauholm, William Byerley, Miquel Casas, Felecia Cerrato, Pablo Cervantes, Kimberly Chambert, Alexander W Charney, Danfeng Chen, Claire Churchhouse, Toni-Kim Clarke, William Coryell, David W Craig, Cristiana Cruceanu, David Curtis, Piotr M Czerski, Anders M Dale, Simone de Jong, Franziska Degenhardt, Jurgen Del-Favero, J Raymond DePaulo, Amanda L Dobbyn, Ashley Dumont, Torbjørn Elvsåshagen, Valentina Escott-Price, Chun Chieh Fan, Sascha B Fischer, Matthew Flickinger, Tatiana M Foroud, Liz Forty, Josef Frank, Christine Fraser, Nelson B Freimer, Louise Friseìn, Katrin Gade, Diane Gage, Julie Garnham, Claudia Giambartolomei, Marianne Giørtz Pedersen, Jaqueline Goldstein, Scott D Gordon, Katherine Gordon-Smith, Elaine K Green, Melissa J Green, Tiffany A Greenwood, Jakob Grove, Weihua Guan, Joseì Guzman Parra, Marian L Hamshere, Martin Hautzinger, Urs Heilbronner, Stefan Herms, Maria Hipolito, Per Hoffmann, Dominic Holland, Laura Huckins, Steìphane Jamain, Jessica S Johnson, Anders Jureìus, Radhika Kandaswamy, Robert Karlsson, James L Kennedy, Sarah Kittel-Schneider, Sarah V Knott, James A Knowles, Manolis Kogevinas, Anna C Koller, Ralph Kupka, Catharina Lavebratt, Jacob Lawrence, William B Lawson, Markus Leber, Phil H Lee, Shawn E Levy, Jun Z Li, Chunyu Liu, Susanne Lucae, Anna Maaser, Donald J MacIntyre, Pamela B Mahon, Wolfgang Maier, Lina Martinsson, Steve McCarroll, Peter McGuffin, Melvin G McInnis, James D McKay, Helena Medeiros, Sarah E Medland, Fan Meng, Lili Milani, Grant W Montgomery, Derek W Morris, Thomas W Mühleisen, Niamh Mullins, Hoang Nguyen, Caroline M Nievergelt, Annelie Nordin Adolfsson, Evaristus A Nwulia, Claire O’Donovan, Loes M Olde Loohuis, Anil P S Ori, Lilijana Oruc, Urban Ösby, Roy H Perlis, Amy Perry, Andrea Pfennig, James B Potash, Shaun M Purcell, Eline J Regeer, Andreas Reif, Ceìline S Reinbold, John P Rice, Fabio Rivas, Margarita Rivera, Panos Roussos, Douglas M Ruderfer, Euijung Ryu, Cristina Saìnchez-Mora, Alan F Schatzberg, William A Scheftner, Nicholas J Schork, Cynthia Shannon Weickert, Tatyana Shehktman, Paul D Shilling, Engilbert Sigurdsson, Claire Slaney, Olav B Smeland, Janet L Sobell, Christine Søholm Hansen, Anne T Spijker, David St Clair, Michael Steffens, John S Strauss, Fabian Streit, Jana Strohmaier, Szabolcs Szelinger, Robert C Thompson, Thorgeir E Thorgeirsson, Jens Treutlein, Helmut Vedder, Weiqing Wang, Stanley J Watson, Thomas W Weickert, Stephanie H Witt, Simon Xi, Wei Xu, Allan H Young, Peter Zandi, Peng Zhang, Sebastian Zollner, Rolf Adolfsson, Ingrid Agartz, Martin Alda, Lena Backlund, Bernhard T Baune, Frank Bellivier, Wade H Berrettini, Joanna M Biernacka, Douglas H R Blackwood, Michael Boehnke, Anders D Børglum, Aiden Corvin, Nicholas Craddock, Mark J Daly, Udo Dannlowski, ToÞnu Esko, Bruno Etain, Mark Frye, Janice M Fullerton, Elliot S Gershon, Michael Gill, Fernando Goes, Maria Grigoroiu-Serbanescu, Joanna Hauser, David M Hougaard, Christina M Hultman, Ian Jones, Lisa A Jones, Reneì S Kahn, George Kirov, Mikael Landeìn, Marion Leboyer, Cathryn M Lewis, Qingqin S Li, Jolanta Lissowska, Nicholas G Martin, Fermin Mayoral, Susan L McElroy, Andrew M McIntosh, Francis J McMahon, Ingrid Melle, Andres Metspalu, Philip B Mitchell, Gunnar Morken, Ole Mors, Preben Bo Mortensen, Bertram Müller-Myhsok, Richard M Myers, Benjamin M Neale, Vishwajit Nimgaonkar, Merete Nordentoft, Markus M Nöthen, Michael C O’Donovan, Ketil J Oedegaard, Michael J Owen, Sara A Paciga, Carlos Pato, Michele T Pato, Danielle Posthuma, Josep Antoni Ramos-Quiroga, Marta Ribaseìs, Marcella Rietschel, Guy A Rouleau, Martin Schalling, Peter R Schofield, Thomas G Schulze, Alessandro Serretti, Jordan W Smoller, Hreinn Stefansson, Kari Stefansson, Eystein Stordal, Patrick F Sullivan, Gustavo Turecki, Arne E Vaaler, Eduard Vieta, John B Vincent, Thomas Werge, John I Nurnberger, Naomi R Wray, Arianna Di Florio, Howard J Edenberg, Sven Cichon, Roel A Ophoff, Laura J Scott, Ole A Andreassen, John Kelsoe, Pamela Sklar
Publikováno v:
Frontiers in Neuroscience, Vol 13 (2019)
Background: Alzheimer’s disease (AD) and bipolar disorder (BIP) are complex traits influenced by numerous common genetic variants, most of which remain to be detected. Clinical and epidemiological evidence suggest that AD and BIP are related. Howev
Externí odkaz:
https://doaj.org/article/86fd88785b5745c79b1fba01a8b863d5
Autor:
Jeffrey M. Trent, Giselle L. Saulnier Sholler, Javed Khan, Rebecca F. Halperin, Jonathan J. Keats, Szabolcs Szelinger, Bryce Turner, Austin Christofferson, Faith Cisneros, Apurva M. Hegde, Daniel Enriquez, Tyler Izatt, Sara Nasser, Alison Roos, Hue V. Reardon, Xinyu Wen, Jun S. Wei, Hsien-Chao Chou, Jeffrey Bond, Karl Dykema, Elizabeth VanSickle, Genevieve Bergendahl, Virginia L. Harrod, Peter E. Zage, Kathleen Neville, Jawhar Rawwas, Randal K. Wada, Javier E. Oesterheld, Michael S. Isakoff, William Roberts, Albert Cornelius, Deanna Mitchell, Don E. Eslin, Valerie I. Brown, William S. Ferguson, Jacqueline M. Kraveka, Abhinav B. Nagulapally, William P.D. Hendricks, Sara A. Byron
Additional Longitudinal Analysis of Relapsed and Refractory Childhood Solid Tumors.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::358f5743a8a96e060a39f9e37a70c1e5
https://doi.org/10.1158/0008-5472.22431250.v1
https://doi.org/10.1158/0008-5472.22431250.v1
Autor:
Jeffrey M. Trent, Giselle L. Saulnier Sholler, Javed Khan, Rebecca F. Halperin, Jonathan J. Keats, Szabolcs Szelinger, Bryce Turner, Austin Christofferson, Faith Cisneros, Apurva M. Hegde, Daniel Enriquez, Tyler Izatt, Sara Nasser, Alison Roos, Hue V. Reardon, Xinyu Wen, Jun S. Wei, Hsien-Chao Chou, Jeffrey Bond, Karl Dykema, Elizabeth VanSickle, Genevieve Bergendahl, Virginia L. Harrod, Peter E. Zage, Kathleen Neville, Jawhar Rawwas, Randal K. Wada, Javier E. Oesterheld, Michael S. Isakoff, William Roberts, Albert Cornelius, Deanna Mitchell, Don E. Eslin, Valerie I. Brown, William S. Ferguson, Jacqueline M. Kraveka, Abhinav B. Nagulapally, William P.D. Hendricks, Sara A. Byron
Table S1. Extended Cohort Annotations. Table S2. Mutational Signatures. Table S3. GISTIC Copy Number Analysis. Table S4. Somatic Variants in Relapsed/Refractory Childhood Solid Tumors (n=184 Patients with T/N WES). Table S5. Clinvar Pathogenic and Li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1e39ae7fd69f2b814d3c10f93f7f3e1
https://doi.org/10.1158/0008-5472.22431247.v1
https://doi.org/10.1158/0008-5472.22431247.v1